gene_symbol condition_label condition_key condition_db_ids condition_PLP_record_count condition_unique_coordinate_count condition_support_status condition_architecture_class condition_architecture_rationale best_single_exon_unit best_single_exon_condition_coverage_fraction best_single_exon_payload_bp best_adjacent_exon_block_unit best_adjacent_exon_block_condition_coverage_fraction best_adjacent_exon_block_payload_bp best_boundary_CDS_payload_unit best_boundary_CDS_payload_condition_coverage_fraction best_boundary_CDS_payload_bp gene_semantic_class_prePAExact gene_public_label gene_class_group unit_coverage_rows_available condition_layer_scope NF1 Neurofibromatosis, type 1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 4600 4600 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E37 0.053043 433 NF1:exon_block:E36-E40 0.155217 69803 NF1:boundary_CDS_coverage:after_E1 0.980870 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 281 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Breast-ovarian cancer, familial, susceptibility to, 2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 3395 3395 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.483947 4932 BRCA2:exon_block:E10-E14 0.641532 23017 BRCA2:boundary_CDS_coverage:after_E1 0.995582 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 126 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 3209 3209 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.486133 4932 BRCA2:exon_block:E10-E14 0.638205 23017 BRCA2:boundary_CDS_coverage:after_E1 0.992521 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 127 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2883 2883 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.566077 3426 BRCA1:exon_block:E10-E14 0.661117 20530 BRCA1:boundary_CDS_coverage:after_E1 0.984738 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 105 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 2743 2743 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.483777 4932 BRCA2:exon_block:E10-E14 0.638352 23017 BRCA2:boundary_CDS_coverage:after_E1 0.996719 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 127 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Ataxia-telangiectasia syndrome mondo_mondo_0008840_medgen_c0004135_omim_208900_orphanet_100 MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100 2437 2437 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E10 0.034879 372 ATM:exon_block:E7-E11 0.121461 7244 ATM:boundary_CDS_coverage:after_E1 0.991383 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 306 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2145 2145 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.543590 3426 BRCA1:exon_block:E10-E14 0.644289 20530 BRCA1:boundary_CDS_coverage:after_E1 0.992075 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 103 record-level condition-associated architecture; not patient coverage or disease prevalence APC Familial adenomatous polyposis 1 mondo_mondo_0021056_medgen_c2713442_omim_175100 MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 2057 2057 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.628099 8687 APC:exon_block:E12-E16 0.747205 19132 APC:boundary_CDS_coverage:after_E1 0.991736 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1908 1908 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E10 0.036688 372 ATM:exon_block:E6-E10 0.119497 7120 ATM:boundary_CDS_coverage:after_E1 0.997904 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 306 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1824 1824 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E10 0.036732 372 ATM:exon_block:E6-E10 0.124452 7120 ATM:boundary_CDS_coverage:after_E1 0.999452 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 306 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1784 1784 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.534753 3426 BRCA1:exon_block:E10-E14 0.628924 20530 BRCA1:boundary_CDS_coverage:after_E1 0.993834 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 105 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1362 1362 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E21 0.047724 441 NF1:exon_block:E37-E41 0.139501 10654 NF1:boundary_CDS_coverage:after_E1 0.986784 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 278 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1324 1324 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.556647 2545 MSH6:exon_block:E4-E8 0.785498 7748 MSH6:boundary_CDS_coverage:after_E1 0.954683 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 42 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1319 1319 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E12 0.103867 246 MSH2:exon_block:E3-E7 0.373768 19848 MSH2:boundary_CDS_coverage:after_E1 0.944655 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1236 1236 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E21 0.045307 441 NF1:exon_block:E37-E41 0.143204 10654 NF1:boundary_CDS_coverage:after_E1 0.987864 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 278 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1172 1172 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.400171 1473 PALB2:exon_block:E4-E8 0.711604 12326 PALB2:boundary_CDS_coverage:after_E1 0.971843 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 57 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Lynch syndrome 5 mondo_mondo_0013710_medgen_c1833477_omim_614350_orphanet_144 MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144 1114 1114 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.552065 2545 MSH6:exon_block:E4-E8 0.777379 7748 MSH6:boundary_CDS_coverage:after_E1 0.961400 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 42 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1103 1103 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E12 0.097915 371 MLH1:exon_block:E12-E16 0.306437 22047 MLH1:boundary_CDS_coverage:after_E1 0.937443 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 87 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Tuberous sclerosis 2 mondo_mondo_0013199_medgen_c1860707_omim_613254_orphanet_805 MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805 1084 1084 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC2:single_exon:E34 0.093173 488 TSC2:exon_block:E34-E38 0.224170 2644 TSC2:boundary_CDS_coverage:after_E1 0.989852 5421 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 200 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Hereditary nonpolyposis colorectal neoplasms mesh_d003123_medgen_c0009405 MeSH:D003123,MedGen:C0009405 1072 1072 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.516791 2545 MSH6:exon_block:E4-E8 0.768657 7748 MSH6:boundary_CDS_coverage:after_E1 0.961754 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 42 record-level condition-associated architecture; not patient coverage or disease prevalence APC Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1035 1035 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.615459 8687 APC:exon_block:E12-E16 0.737198 19132 APC:boundary_CDS_coverage:after_E1 0.991304 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1011 1011 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.514342 4932 BRCA2:exon_block:E7-E11 0.654797 14698 BRCA2:boundary_CDS_coverage:after_E1 0.999011 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 126 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1000 1000 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E14 0.102000 248 MSH2:exon_block:E3-E7 0.365000 19848 MSH2:boundary_CDS_coverage:after_E1 0.933000 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Colorectal cancer, hereditary nonpolyposis, type 2 mondo_mondo_0012249_medgen_c1333991_omim_609310_orphanet_144 MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144 868 868 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E12 0.110599 371 MLH1:exon_block:E10-E14 0.338710 22789 MLH1:boundary_CDS_coverage:after_E1 0.932028 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 87 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 849 849 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CHEK2:single_exon:E2 0.151943 325 CHEK2:exon_block:E2-E6 0.484099 22819 CHEK2:boundary_CDS_coverage:after_E1 0.990577 1629 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 66 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Hereditary nonpolyposis colorectal neoplasms mesh_d003123_medgen_c0009405 MeSH:D003123,MedGen:C0009405 819 819 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E12 0.097680 246 MSH2:exon_block:E3-E7 0.362637 19848 MSH2:boundary_CDS_coverage:after_E1 0.926740 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 779 779 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.406932 1473 PALB2:exon_block:E4-E8 0.712452 12326 PALB2:boundary_CDS_coverage:after_E1 0.967908 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 57 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Retinoblastoma human_phenotype_ontology_hp_0009919_mondo_mondo_0008380_mesh_d012175_medgen_c0035335_omim_180200_orphanet_790 Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790 776 776 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RB1:single_exon:E17 0.074742 197 RB1:exon_block:E17-E21 0.275773 82589 RB1:boundary_CDS_coverage:after_E1 0.918814 2647 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 124 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Hereditary nonpolyposis colorectal neoplasms mesh_d003123_medgen_c0009405 MeSH:D003123,MedGen:C0009405 765 765 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E12 0.094118 371 MLH1:exon_block:E15-E19 0.305882 8579 MLH1:boundary_CDS_coverage:after_E1 0.922876 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 87 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 723 723 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRIP1:single_exon:E7 0.084371 291 BRIP1:exon_block:E7-E11 0.320885 24488 BRIP1:boundary_CDS_coverage:after_E1 0.991701 3747 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 91 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Li-Fraumeni syndrome mondo_mondo_0018875_medgen_c0085390_omim_ps151623_orphanet_524 MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524 694 694 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.208934 184 TP53:exon_block:E4-E8 0.848703 2572 TP53:boundary_CDS_coverage:after_E1 0.992795 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 47 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN PTEN hamartoma tumor syndrome mondo_mondo_0017623_mesh_d006223_medgen_c1959582_orphanet_306498 MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498 682 682 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E5 0.239003 239 PTEN:exon_block:E4-E8 0.728739 30073 PTEN:boundary_CDS_coverage:after_E1 0.898827 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 37 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 DICER1-related tumor predisposition mondo_mondo_0100216_medgen_c3839822_orphanet_284343 MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343 644 644 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution DICER1:single_exon:E21 0.166149 781 DICER1:exon_block:E21-E25 0.473602 12924 DICER1:boundary_CDS_coverage:after_E1 0.992236 5766 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 125 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Lynch syndrome mondo_mondo_0005835_medgen_c4552100_orphanet_144 MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144 596 596 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E12 0.078859 371 MLH1:exon_block:E9-E13 0.302013 14501 MLH1:boundary_CDS_coverage:after_E1 0.882550 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 87 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 594 594 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PMS2:single_exon:E11 0.267677 862 PMS2:exon_block:E7-E11 0.521886 10665 PMS2:boundary_CDS_coverage:after_E1 0.964646 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Tuberous sclerosis 1 mondo_mondo_0008612_medgen_c1854465_omim_191100_orphanet_805 MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805 581 581 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC1:single_exon:E15 0.172117 559 TSC1:exon_block:E15-E19 0.376936 4551 TSC1:boundary_CDS_coverage:after_E1 0.987952 3492 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 105 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 554 554 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.231047 184 TP53:exon_block:E4-E8 0.861011 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 46 record-level condition-associated architecture; not patient coverage or disease prevalence BLM Bloom syndrome mondo_mondo_0008876_medgen_c0005859_omim_210900_orphanet_125 MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125 539 539 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BLM:single_exon:E7 0.152134 662 BLM:exon_block:E3-E7 0.400742 11889 BLM:boundary_CDS_coverage:after_E1 0.990724 4251 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 100 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 537 537 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E5 0.249534 239 PTEN:exon_block:E4-E8 0.729981 30073 PTEN:boundary_CDS_coverage:after_E1 0.919926 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 37 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Lynch syndrome mondo_mondo_0005835_medgen_c4552100_orphanet_144 MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144 519 519 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E3 0.094412 279 MSH2:exon_block:E3-E7 0.358382 19848 MSH2:boundary_CDS_coverage:after_E1 0.903661 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Cowden syndrome 1 mondo_mondo_0008021_medgen_cn072330_omim_158350 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 513 513 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E5 0.241715 239 PTEN:exon_block:E4-E8 0.773879 30073 PTEN:boundary_CDS_coverage:after_E1 0.923977 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 37 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Fanconi anemia complementation group J mondo_mondo_0012187_medgen_c1836860_omim_609054_orphanet_84 MONDO:MONDO:0012187,MedGen:C1836860,OMIM:609054,Orphanet:84 507 507 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRIP1:single_exon:E7 0.080868 291 BRIP1:exon_block:E7-E11 0.323471 24488 BRIP1:boundary_CDS_coverage:after_E1 0.990138 3747 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 91 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Tuberous sclerosis syndrome mondo_mondo_0001734_medgen_c0041341_omim_ps191100_orphanet_805 MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805 499 499 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC2:single_exon:E34 0.088176 488 TSC2:exon_block:E34-E38 0.232465 2644 TSC2:boundary_CDS_coverage:after_E1 1.000000 5421 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 199 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Multiple endocrine neoplasia, type 1 mondo_mondo_0007540_mesh_d018761_medgen_c0025267_omim_131100_orphanet_652 MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:652 495 495 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MEN1:single_exon:E2 0.258586 468 MEN1:exon_block:E2-E6 0.537374 3122 MEN1:boundary_CDS_coverage:after_E1 0.991919 1830 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 41 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Hereditary diffuse gastric adenocarcinoma mondo_mondo_0007648_medgen_c1708349_omim_137215_orphanet_26106 MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106 495 495 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CDH1:single_exon:E10 0.105051 245 CDH1:exon_block:E9-E13 0.379798 10314 CDH1:boundary_CDS_coverage:after_E1 0.945455 2598 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 481 481 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CHEK2:single_exon:E2 0.151767 325 CHEK2:exon_block:E2-E6 0.467775 22819 CHEK2:boundary_CDS_coverage:after_E1 0.989605 1629 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 66 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Lynch syndrome 4 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 477 477 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PMS2:single_exon:E11 0.276730 862 PMS2:exon_block:E7-E11 0.505241 10665 PMS2:boundary_CDS_coverage:after_E1 0.962264 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Hereditary nonpolyposis colorectal neoplasms mesh_d003123_medgen_c0009405 MeSH:D003123,MedGen:C0009405 468 468 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PMS2:single_exon:E11 0.288462 862 PMS2:exon_block:E7-E11 0.521368 10665 PMS2:boundary_CDS_coverage:after_E1 0.957265 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Microcephaly, normal intelligence and immunodeficiency mondo_mondo_0009623_medgen_c0398791_omim_251260_orphanet_647 MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260,Orphanet:647 439 439 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NBN:single_exon:E11 0.145786 448 NBN:exon_block:E10-E14 0.448747 12303 NBN:boundary_CDS_coverage:after_E1 0.970387 2225 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Li-Fraumeni syndrome 1 gene_553989_medgen_c1835398_omim_151623_orphanet_524 Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524 428 428 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.252336 184 TP53:exon_block:E4-E8 0.878505 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 46 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 424 424 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRIP1:single_exon:E7 0.082547 291 BRIP1:exon_block:E5-E9 0.323113 50157 BRIP1:boundary_CDS_coverage:after_E1 1.000000 3747 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 91 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 379 379 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.554090 3426 BRCA1:exon_block:E10-E14 0.654354 20530 BRCA1:boundary_CDS_coverage:after_E1 0.994723 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 104 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Von Hippel-Lindau syndrome mondo_mondo_0008667_medgen_c0019562_omim_193300_orphanet_892 MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892 373 373 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution VHL:single_exon:E1 0.391421 410 VHL:exon_block:E1-E3 0.906166 11890 VHL:boundary_CDS_coverage:after_E1 0.512064 299 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 8 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Lynch syndrome mondo_mondo_0005835_medgen_c4552100_orphanet_144 MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144 330 330 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.551515 2545 MSH6:exon_block:E4-E8 0.824242 7748 MSH6:boundary_CDS_coverage:after_E1 0.975758 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 41 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Birt-Hogg-Dube syndrome mondo_mondo_0800444_medgen_c0346010_omim_ps135150_orphanet_122 MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122 316 316 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FLCN:single_exon:E4 0.145570 273 FLCN:exon_block:E8-E12 0.477848 6444 FLCN:boundary_CDS_coverage:after_E1 0.990506 1737 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 56 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Familial adenomatous polyposis 2 mondo_mondo_0012041_medgen_c3272841_omim_608456_orphanet_220460_orphanet_247798 MONDO:MONDO:0012041,MedGen:C3272841,OMIM:608456,Orphanet:220460,Orphanet:247798 311 311 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MUTYH:single_exon:E3 0.112540 149 MUTYH:exon_block:E10-E14 0.401929 1129 MUTYH:boundary_CDS_coverage:after_E1 0.964630 1563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 BAP1-related tumor predisposition syndrome mondo_mondo_0013692_medgen_c3280492_omim_614327_orphanet_289539 MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539 296 296 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BAP1:single_exon:E13 0.185811 479 BAP1:exon_block:E10-E14 0.459459 2775 BAP1:boundary_CDS_coverage:after_E1 0.962838 2150 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 77 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 286 286 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution DICER1:single_exon:E21 0.181818 781 DICER1:exon_block:E21-E25 0.458042 12924 DICER1:boundary_CDS_coverage:after_E1 1.000000 5766 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 123 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 285 285 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MEN1:single_exon:E2 0.266667 468 MEN1:exon_block:E2-E6 0.526316 3122 MEN1:boundary_CDS_coverage:after_E1 1.000000 1830 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 41 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 278 278 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.564748 2545 MSH6:exon_block:E4-E8 0.791367 7748 MSH6:boundary_CDS_coverage:after_E1 0.964029 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 41 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Peutz-Jeghers syndrome mondo_mondo_0008280_mesh_d010580_medgen_c0031269_omim_175200_orphanet_2869 MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:2869 274 274 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution STK11:single_exon:E1 0.193431 1426 STK11:exon_block:E1-E5 0.620438 14940 STK11:boundary_CDS_coverage:after_E1 0.784672 1009 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 41 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 263 263 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CDH1:single_exon:E10 0.106464 245 CDH1:exon_block:E10-E14 0.368821 12790 CDH1:boundary_CDS_coverage:after_E1 0.961977 2598 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Pheochromocytoma/paraganglioma syndrome 5 mondo_mondo_0013602_medgen_c3279992_omim_614165_orphanet_29072 MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072 250 250 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHA:single_exon:E8 0.108000 169 SDHA:exon_block:E8-E12 0.400000 17627 SDHA:boundary_CDS_coverage:after_E1 0.904000 1929 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 248 248 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RB1:single_exon:E1 0.080645 299 RB1:exon_block:E17-E21 0.241935 82589 RB1:boundary_CDS_coverage:after_E1 0.911290 2647 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 124 record-level condition-associated architecture; not patient coverage or disease prevalence FH Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 248 248 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FH:single_exon:E7 0.177419 204 FH:exon_block:E4-E8 0.669355 9701 FH:boundary_CDS_coverage:after_E1 0.983871 1398 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 42 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Juvenile myelomonocytic leukemia human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 244 244 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E21 0.053279 441 NF1:exon_block:E36-E40 0.180328 69803 NF1:boundary_CDS_coverage:after_E1 0.983607 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 279 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 241 241 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MUTYH:single_exon:E3 0.132780 149 MUTYH:exon_block:E10-E14 0.385892 1129 MUTYH:boundary_CDS_coverage:after_E1 0.987552 1563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Chuvash polycythemia mondo_mondo_0009892_medgen_c1837915_omim_263400_orphanet_238557 MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557 235 235 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution VHL:single_exon:E1 0.434043 410 VHL:exon_block:E1-E3 0.995745 11890 VHL:boundary_CDS_coverage:after_E1 0.557447 299 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 8 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 Neurofibromatosis, type 2 mondo_mondo_0007039_medgen_c0027832_omim_101000_orphanet_637 MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637 229 229 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF2:single_exon:E3 0.091703 123 NF2:exon_block:E1-E5 0.366812 51093 NF2:boundary_CDS_coverage:after_E1 0.908297 1671 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Pheochromocytoma/paraganglioma syndrome 4 mondo_mondo_0007273_medgen_c1861848_omim_115310_orphanet_29072 MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072 218 218 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHB:single_exon:E6 0.183486 102 SDHB:exon_block:E3-E7 0.729358 10538 SDHB:boundary_CDS_coverage:after_E1 0.903670 768 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 32 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Mitochondrial complex II deficiency, nuclear type 1 mondo_mondo_0100294_medgen_c5700310_omim_252011_orphanet_3208 MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208 216 216 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHA:single_exon:E8 0.115741 169 SDHA:exon_block:E8-E12 0.407407 17627 SDHA:boundary_CDS_coverage:after_E1 0.921296 1929 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1A Juvenile polyposis syndrome mondo_mondo_0017380_medgen_c0345893_omim_174900_orphanet_2929 MONDO:MONDO:0017380,MedGen:C0345893,OMIM:174900,Orphanet:2929 213 213 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BMPR1A:single_exon:E10 0.206573 298 BMPR1A:exon_block:E7-E11 0.591549 21669 BMPR1A:boundary_CDS_coverage:after_E1 1.000000 1596 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 54 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 210 210 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NBN:single_exon:E11 0.195238 448 NBN:exon_block:E9-E13 0.480952 12715 NBN:boundary_CDS_coverage:after_E1 0.971429 2225 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Tuberous sclerosis syndrome mondo_mondo_0001734_medgen_c0041341_omim_ps191100_orphanet_805 MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805 206 206 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC1:single_exon:E15 0.140777 559 TSC1:exon_block:E14-E18 0.393204 4231 TSC1:boundary_CDS_coverage:after_E1 1.000000 3492 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 100 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 BRCA2-related cancer predisposition mondo_mondo_0700269_medgen_cn377758 MONDO:MONDO:0700269,MedGen:CN377758 205 205 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.434146 4932 BRCA2:exon_block:E7-E11 0.570732 14698 BRCA2:boundary_CDS_coverage:after_E1 0.985366 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 125 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Pheochromocytoma human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 204 204 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHB:single_exon:E6 0.181373 102 SDHB:exon_block:E3-E7 0.730392 10538 SDHB:boundary_CDS_coverage:after_E1 0.911765 768 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 32 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Gastrointestinal stromal tumor human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 203 203 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHB:single_exon:E6 0.182266 102 SDHB:exon_block:E3-E7 0.733990 10538 SDHB:boundary_CDS_coverage:after_E1 0.911330 768 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 32 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Breast-ovarian cancer, familial, susceptibility to, 3 mondo_mondo_0013253_medgen_c3150659_omim_613399_orphanet_145 MONDO:MONDO:0013253,MedGen:C3150659,OMIM:613399,Orphanet:145 199 199 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RAD51C:single_exon:E2 0.251256 259 RAD51C:exon_block:E1-E5 0.768844 17389 RAD51C:boundary_CDS_coverage:after_E1 0.894472 983 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 36 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Fanconi anemia complementation group D1 mondo_mondo_0011584_medgen_c1838457_omim_605724_orphanet_319462 MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:319462 199 199 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.492462 4932 BRCA2:exon_block:E7-E11 0.648241 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 123 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Fanconi anemia complementation group O mondo_mondo_0013248_medgen_c3150653_omim_613390_orphanet_84 MONDO:MONDO:0013248,MedGen:C3150653,OMIM:613390,Orphanet:84 197 197 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RAD51C:single_exon:E2 0.218274 259 RAD51C:exon_block:E1-E5 0.751269 17389 RAD51C:boundary_CDS_coverage:after_E1 0.873096 983 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 37 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 195 195 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BAP1:single_exon:E13 0.169231 479 BAP1:exon_block:E10-E14 0.400000 2775 BAP1:boundary_CDS_coverage:after_E1 0.958974 2150 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 77 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 194 194 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FLCN:single_exon:E4 0.139175 273 FLCN:exon_block:E9-E13 0.500000 4225 FLCN:boundary_CDS_coverage:after_E1 1.000000 1737 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 56 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Fanconi anemia, complementation group S mondo_mondo_0054748_medgen_c4554406_omim_617883 MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883 189 189 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.486772 3426 BRCA1:exon_block:E10-E14 0.576720 20530 BRCA1:boundary_CDS_coverage:after_E1 0.989418 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 105 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Breast-ovarian cancer, familial, susceptibility to, 4 mondo_mondo_0013669_medgen_c3280345_omim_614291_orphanet_145 MONDO:MONDO:0013669,MedGen:C3280345,OMIM:614291,Orphanet:145 188 188 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RAD51D:single_exon:E3 0.154255 119 RAD51D:exon_block:E3-E7 0.574468 15166 RAD51D:boundary_CDS_coverage:after_E1 0.877660 902 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 42 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 186 186 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.236559 184 TP53:exon_block:E4-E8 0.881720 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 40 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 183 183 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution VHL:single_exon:E1 0.459016 410 VHL:exon_block:E1-E3 1.000000 11890 VHL:boundary_CDS_coverage:after_E1 0.540984 299 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 8 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Juvenile polyposis syndrome mondo_mondo_0017380_medgen_c0345893_omim_174900_orphanet_2929 MONDO:MONDO:0017380,MedGen:C0345893,OMIM:174900,Orphanet:2929 183 183 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SMAD4:single_exon:E10 0.153005 169 SMAD4:exon_block:E8-E12 0.551913 25177 SMAD4:boundary_CDS_coverage:after_E1 1.000000 1656 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 51 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Pancreatic cancer, susceptibility to, 2 mondo_mondo_0013235_medgen_c3150546_omim_613347_orphanet_1333 MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347,Orphanet:1333 177 177 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.542373 4932 BRCA2:exon_block:E7-E11 0.689266 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 122 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 170 170 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHA:single_exon:E1 0.100000 99 SDHA:exon_block:E4-E8 0.388235 8227 SDHA:boundary_CDS_coverage:after_E1 0.900000 1929 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 170 170 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.535294 4932 BRCA2:exon_block:E7-E11 0.682353 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 122 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 169 169 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RAD51C:single_exon:E2 0.266272 259 RAD51C:exon_block:E1-E5 0.781065 17389 RAD51C:boundary_CDS_coverage:after_E1 0.893491 983 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 36 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Wilms tumor 1 mondo_mondo_0008679_medgen_cn033288_omim_194070_orphanet_654 MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654 169 169 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.532544 4932 BRCA2:exon_block:E7-E11 0.680473 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 122 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Glioma susceptibility 3 mondo_mondo_0013093_medgen_c2751641_omim_613029_orphanet_182067_orphanet_360 MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029,Orphanet:182067,Orphanet:360 169 169 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.532544 4932 BRCA2:exon_block:E7-E11 0.680473 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 122 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 168 168 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution STK11:single_exon:E1 0.202381 1426 STK11:exon_block:E1-E5 0.690476 14940 STK11:boundary_CDS_coverage:after_E1 0.791667 1009 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 41 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 167 167 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC2:single_exon:E17 0.059880 123 TSC2:exon_block:E34-E38 0.197605 2644 TSC2:boundary_CDS_coverage:after_E1 0.994012 5421 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 196 record-level condition-associated architecture; not patient coverage or disease prevalence BLM Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 166 166 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BLM:single_exon:E7 0.162651 662 BLM:exon_block:E3-E7 0.415663 11889 BLM:boundary_CDS_coverage:after_E1 1.000000 4251 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 100 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 CDH1-related diffuse gastric and lobular breast cancer syndrome mondo_mondo_0100488_medgen_cn311521 MONDO:MONDO:0100488,MedGen:CN311521 160 160 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CDH1:single_exon:E10 0.112500 245 CDH1:exon_block:E10-E14 0.375000 12790 CDH1:boundary_CDS_coverage:after_E1 0.943750 2598 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Aplastic anemia human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 159 159 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NBN:single_exon:E11 0.188679 448 NBN:exon_block:E7-E11 0.515723 17314 NBN:boundary_CDS_coverage:after_E1 0.962264 2225 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence APC Familial multiple polyposis syndrome mondo_mondo_0021055_medgen_c0032580_omim_ps175100_orphanet_733 MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733 150 150 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.526667 8687 APC:exon_block:E12-E16 0.666667 19132 APC:boundary_CDS_coverage:after_E1 0.986667 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 148 148 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHB:single_exon:E7 0.216216 123 SDHB:exon_block:E3-E7 0.750000 10538 SDHB:boundary_CDS_coverage:after_E1 0.905405 768 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 32 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 148 148 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.493243 4932 BRCA2:exon_block:E7-E11 0.614865 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 122 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Lynch syndrome mondo_mondo_0005835_medgen_c4552100_orphanet_144 MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144 147 147 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PMS2:single_exon:E11 0.265306 862 PMS2:exon_block:E7-E11 0.496599 10665 PMS2:boundary_CDS_coverage:after_E1 0.891156 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Neurofibromatosis-Noonan syndrome mondo_mondo_0011035_medgen_c2931482_omim_601321_orphanet_638 MONDO:MONDO:0011035,MedGen:C2931482,OMIM:601321,Orphanet:638 144 144 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E38 0.097222 341 NF1:exon_block:E36-E40 0.222222 69803 NF1:boundary_CDS_coverage:after_E1 0.965278 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 268 record-level condition-associated architecture; not patient coverage or disease prevalence FH Hereditary leiomyomatosis and renal cell cancer human_phenotype_ontology_hp_0007437_mondo_mondo_0007888_medgen_c1708350_omim_150800_orphanet_523 Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523 143 143 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FH:single_exon:E7 0.223776 204 FH:exon_block:E3-E7 0.664336 9672 FH:boundary_CDS_coverage:after_E1 0.993007 1398 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 42 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 142 142 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.415493 4932 BRCA2:exon_block:E7-E11 0.556338 14698 BRCA2:boundary_CDS_coverage:after_E1 0.978873 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 122 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 140 140 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.507143 3426 BRCA1:exon_block:E10-E14 0.628571 20530 BRCA1:boundary_CDS_coverage:after_E1 0.985714 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 103 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1A Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 138 138 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BMPR1A:single_exon:E10 0.195652 298 BMPR1A:exon_block:E8-E12 0.543478 11267 BMPR1A:boundary_CDS_coverage:after_E1 1.000000 1596 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 54 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Café-au-lait macules with pulmonary stenosis mondo_mondo_0008672_medgen_c0553586_omim_193520 MONDO:MONDO:0008672,MedGen:C0553586,OMIM:193520 137 137 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E38 0.102190 341 NF1:exon_block:E36-E40 0.226277 69803 NF1:boundary_CDS_coverage:after_E1 0.956204 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 266 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Hereditary nonpolyposis colon cancer mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 131 131 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.572519 2545 MSH6:exon_block:E4-E8 0.870229 7748 MSH6:boundary_CDS_coverage:after_E1 1.000000 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 40 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 BRCA2-related disorder brca2_related_disorder MedGen:CN239275 127 127 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.464567 4932 BRCA2:exon_block:E9-E13 0.614173 15978 BRCA2:boundary_CDS_coverage:after_E1 0.992126 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 124 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 126 126 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RAD51D:single_exon:E9 0.150794 165 RAD51D:exon_block:E5-E9 0.595238 5922 RAD51D:boundary_CDS_coverage:after_E1 0.896825 902 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 42 record-level condition-associated architecture; not patient coverage or disease prevalence ATM ATM-related cancer predisposition mondo_mondo_0700270_medgen_cn377759 MONDO:MONDO:0700270,MedGen:CN377759 126 126 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E10 0.063492 372 ATM:exon_block:E7-E11 0.150794 7244 ATM:boundary_CDS_coverage:after_E1 0.976190 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 294 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 124 124 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.580645 4932 BRCA2:exon_block:E7-E11 0.758065 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 119 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 117 117 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SMAD4:single_exon:E9 0.179487 184 SMAD4:exon_block:E7-E11 0.572650 18437 SMAD4:boundary_CDS_coverage:after_E1 1.000000 1656 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 51 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Neurofibromatosis, familial spinal mondo_mondo_0008078_medgen_c1834235_omim_162210_orphanet_636 MONDO:MONDO:0008078,MedGen:C1834235,OMIM:162210,Orphanet:636 117 117 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E38 0.085470 341 NF1:exon_block:E36-E40 0.230769 69803 NF1:boundary_CDS_coverage:after_E1 0.965812 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 265 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 117 117 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.495726 4932 BRCA2:exon_block:E7-E11 0.632479 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 118 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 114 114 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.429825 3426 BRCA1:exon_block:E10-E14 0.526316 20530 BRCA1:boundary_CDS_coverage:after_E1 0.947368 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 102 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 BRCA1-related cancer predisposition mondo_mondo_0700268_medgen_cn377757 MONDO:MONDO:0700268,MedGen:CN377757 114 114 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.280702 3426 BRCA1:exon_block:E10-E14 0.359649 20530 BRCA1:boundary_CDS_coverage:after_E1 0.973684 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 99 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 112 112 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SMAD4:single_exon:E9 0.169643 184 SMAD4:exon_block:E7-E11 0.562500 18437 SMAD4:boundary_CDS_coverage:after_E1 1.000000 1656 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 51 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Hereditary nonpolyposis colon cancer mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 110 110 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E3 0.100000 279 MSH2:exon_block:E3-E7 0.390909 19848 MSH2:boundary_CDS_coverage:after_E1 0.954545 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 72 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Pancreatic cancer, susceptibility to, 4 mondo_mondo_0013685_medgen_c3280442_omim_614320_orphanet_1333 MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320,Orphanet:1333 100 100 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.460000 3426 BRCA1:exon_block:E10-E14 0.580000 20530 BRCA1:boundary_CDS_coverage:after_E1 1.000000 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 102 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 99 99 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC1:single_exon:E15 0.121212 559 TSC1:exon_block:E5-E9 0.313131 13458 TSC1:boundary_CDS_coverage:after_E1 1.000000 3492 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 103 record-level condition-associated architecture; not patient coverage or disease prevalence APC Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 97 97 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.463918 8687 APC:exon_block:E12-E16 0.618557 19132 APC:boundary_CDS_coverage:after_E1 0.938144 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 69 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Breast-ovarian cancer, familial, susceptibility to, 5 mondo_mondo_0957530_medgen_c5830615_omim_620442 MONDO:MONDO:0957530,MedGen:C5830615,OMIM:620442 95 95 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.263158 1473 PALB2:exon_block:E3-E7 0.610526 11717 PALB2:boundary_CDS_coverage:after_E1 0.978947 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 57 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 93 93 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.376344 1473 PALB2:exon_block:E3-E7 0.655914 11717 PALB2:boundary_CDS_coverage:after_E1 0.967742 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 57 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 NF1-related disorder nf1_related_disorder MedGen:CN379171 93 93 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E38 0.064516 341 NF1:exon_block:E24-E28 0.182796 4931 NF1:boundary_CDS_coverage:after_E1 0.989247 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 261 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 93 93 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E19 0.107527 361 MLH1:exon_block:E15-E19 0.333333 8579 MLH1:boundary_CDS_coverage:after_E1 0.881720 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 86 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Hereditary nonpolyposis colon cancer mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 89 89 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E16 0.146067 165 MLH1:exon_block:E12-E16 0.359551 22047 MLH1:boundary_CDS_coverage:after_E1 0.943820 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 87 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 85 85 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.576471 4932 BRCA2:exon_block:E8-E11 0.764706 11754 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 113 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Adrenocortical carcinoma, hereditary mondo_mondo_0008734_medgen_c1859972_omim_202300_orphanet_1501 MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501 83 83 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.277108 184 TP53:exon_block:E4-E8 0.867470 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 46 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Hereditary nonpolyposis colon cancer mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 80 80 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PMS2:single_exon:E11 0.287500 862 PMS2:exon_block:E7-E11 0.600000 10665 PMS2:boundary_CDS_coverage:after_E1 0.950000 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 66 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 80 80 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.412500 4932 BRCA2:exon_block:E10-E14 0.600000 23017 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 116 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 80 80 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E17 0.062500 172 ATM:exon_block:E6-E10 0.137500 7120 ATM:boundary_CDS_coverage:after_E1 1.000000 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 275 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 79 79 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHB:single_exon:E6 0.202532 102 SDHB:exon_block:E3-E7 0.822785 10538 SDHB:boundary_CDS_coverage:after_E1 0.924051 768 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 31 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Macrocephaly-autism syndrome mondo_mondo_0011537_medgen_c1854416_omim_605309_orphanet_210548 MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:210548 79 79 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E5 0.240506 239 PTEN:exon_block:E4-E8 0.810127 30073 PTEN:boundary_CDS_coverage:after_E1 0.949367 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 37 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Lymphangiomyomatosis mondo_mondo_0011705_medgen_c0751674_omim_606690_orphanet_538 MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538 77 77 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC2:single_exon:E41 0.090909 99 TSC2:exon_block:E27-E31 0.220779 2767 TSC2:boundary_CDS_coverage:after_E1 1.000000 5421 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 189 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Pancreatic cancer, susceptibility to, 3 mondo_mondo_0013236_medgen_c3150547_omim_613348_orphanet_1333 MONDO:MONDO:0013236,MedGen:C3150547,OMIM:613348,Orphanet:1333 76 76 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.263158 1473 PALB2:exon_block:E2-E6 0.526316 8926 PALB2:boundary_CDS_coverage:after_E1 0.973684 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 57 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome mondo_mondo_0008278_medgen_c1832942_omim_175050_orphanet_2929 MONDO:MONDO:0008278,MedGen:C1832942,OMIM:175050,Orphanet:2929 75 75 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SMAD4:single_exon:E9 0.146667 184 SMAD4:exon_block:E9-E12 0.573333 19620 SMAD4:boundary_CDS_coverage:after_E1 1.000000 1656 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 50 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Fanconi anemia complementation group N mondo_mondo_0012565_medgen_c1835817_omim_610832_orphanet_84 MONDO:MONDO:0012565,MedGen:C1835817,OMIM:610832,Orphanet:84 75 75 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.280000 1473 PALB2:exon_block:E1-E5 0.506667 11671 PALB2:boundary_CDS_coverage:after_E1 0.986667 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 56 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Mismatch repair cancer syndrome 3 mondo_mondo_0030841_medgen_c5436807_omim_619097 MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097 71 71 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.450704 2545 MSH6:exon_block:E4-E8 0.774648 7748 MSH6:boundary_CDS_coverage:after_E1 0.943662 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 40 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Muir-Torré syndrome mondo_mondo_0008018_medgen_c1321489_omim_158320_orphanet_587 MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587 70 70 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E5 0.171429 150 MSH2:exon_block:E3-E7 0.400000 19848 MSH2:boundary_CDS_coverage:after_E1 0.785714 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Muir-Torré syndrome mondo_mondo_0008018_medgen_c1321489_omim_158320_orphanet_587 MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587 70 70 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E18 0.100000 114 MLH1:exon_block:E15-E19 0.328571 8579 MLH1:boundary_CDS_coverage:after_E1 0.957143 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 87 record-level condition-associated architecture; not patient coverage or disease prevalence FH Fumarase deficiency mondo_mondo_0011730_medgen_c0342770_omim_606812_orphanet_24 MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24 70 70 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FH:single_exon:E5 0.200000 183 FH:exon_block:E3-E7 0.628571 9672 FH:boundary_CDS_coverage:after_E1 0.957143 1398 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 42 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 67 67 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.462687 4932 BRCA2:exon_block:E7-E11 0.567164 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 113 record-level condition-associated architecture; not patient coverage or disease prevalence APC Classic or attenuated familial adenomatous polyposis mondo_mondo_0021057_medgen_cn372698 MONDO:MONDO:0021057,MedGen:CN372698 66 66 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.636364 8687 APC:exon_block:E12-E16 0.727273 19132 APC:boundary_CDS_coverage:after_E1 0.939394 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 68 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Mismatch repair cancer syndrome 4 mondo_mondo_0030843_medgen_c5436817_omim_619101 MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101 65 65 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PMS2:single_exon:E11 0.261538 862 PMS2:exon_block:E7-E11 0.538462 10665 PMS2:boundary_CDS_coverage:after_E1 0.907692 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 63 63 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E10 0.063492 372 ATM:exon_block:E7-E10 0.158730 6285 ATM:boundary_CDS_coverage:after_E1 0.968254 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 264 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Mismatch repair cancer syndrome 2 mondo_mondo_0030840_medgen_c5436806_omim_619096 MONDO:MONDO:0030840,MedGen:C5436806,OMIM:619096 62 62 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E5 0.177419 150 MSH2:exon_block:E3-E7 0.451613 19848 MSH2:boundary_CDS_coverage:after_E1 0.758065 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 70 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Isolated focal cortical dysplasia type II human_phenotype_ontology_hp_0032051_mondo_mondo_0011818_medgen_c1846385_omim_607341_orphanet_268994 Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994 61 61 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC2:single_exon:E41 0.098361 99 TSC2:exon_block:E27-E31 0.229508 2767 TSC2:boundary_CDS_coverage:after_E1 1.000000 5421 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 179 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 CHEK2-related cancer predisposition mondo_mondo_0700271_medgen_c5882668_omim_609265_orphanet_524 MONDO:MONDO:0700271,MedGen:C5882668,OMIM:609265,Orphanet:524 61 61 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CHEK2:single_exon:E2 0.196721 325 CHEK2:exon_block:E2-E6 0.540984 22819 CHEK2:boundary_CDS_coverage:after_E1 0.967213 1629 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 65 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 60 60 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.516667 3426 BRCA1:exon_block:E10-E14 0.583333 20530 BRCA1:boundary_CDS_coverage:after_E1 1.000000 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 95 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 59 59 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E3 0.118644 279 MSH2:exon_block:E3-E7 0.389831 19848 MSH2:boundary_CDS_coverage:after_E1 0.745763 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 68 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 59 59 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CDH1:single_exon:E5 0.118644 156 CDH1:exon_block:E9-E13 0.389831 10314 CDH1:boundary_CDS_coverage:after_E1 0.949153 2598 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Acute lymphoid leukemia human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 58 58 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NBN:single_exon:E10 0.155172 273 NBN:exon_block:E7-E11 0.448276 17314 NBN:boundary_CDS_coverage:after_E1 0.931034 2225 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 68 record-level condition-associated architecture; not patient coverage or disease prevalence ATM ATM-related disorder atm_related_disorder . 58 58 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E3 0.068966 113 ATM:exon_block:E25-E29 0.155172 7092 ATM:boundary_CDS_coverage:after_E1 1.000000 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 266 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 57 57 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.421053 3426 BRCA1:exon_block:E10-E14 0.561404 20530 BRCA1:boundary_CDS_coverage:after_E1 1.000000 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 96 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 56 56 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF2:single_exon:E6 0.125000 83 NF2:exon_block:E5-E9 0.392857 10408 NF2:boundary_CDS_coverage:after_E1 0.910714 1671 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 71 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 56 56 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E1 0.107143 146 MLH1:exon_block:E1-E4 0.321429 10957 MLH1:boundary_CDS_coverage:after_E1 0.857143 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 85 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Birt-Hogg-Dube syndrome 1 mondo_mondo_0800445_medgen_cn375946_omim_135150_orphanet_122 MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122 56 56 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FLCN:single_exon:E12 0.196429 132 FLCN:exon_block:E4-E8 0.517857 6625 FLCN:boundary_CDS_coverage:after_E1 1.000000 1737 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 56 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 56 56 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.392857 3426 BRCA1:exon_block:E10-E14 0.464286 20530 BRCA1:boundary_CDS_coverage:after_E1 1.000000 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 100 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Hereditary retinoblastoma mondo_mondo_0018160_medgen_c0751483_orphanet_357027 MONDO:MONDO:0018160,MedGen:C0751483,Orphanet:357027 54 54 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RB1:single_exon:E17 0.111111 197 RB1:exon_block:E17-E21 0.370370 82589 RB1:boundary_CDS_coverage:after_E1 0.907407 2647 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 114 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 53 53 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.490566 2545 MSH6:exon_block:E2-E6 0.698113 14101 MSH6:boundary_CDS_coverage:after_E1 0.943396 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 41 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 53 53 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CHEK2:single_exon:E2 0.169811 325 CHEK2:exon_block:E2-E6 0.528302 22819 CHEK2:boundary_CDS_coverage:after_E1 1.000000 1629 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 65 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 BRCA1-related disorder brca1_related_disorder . 53 53 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.547170 3426 BRCA1:exon_block:E10-E14 0.622642 20530 BRCA1:boundary_CDS_coverage:after_E1 1.000000 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 95 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Glioma susceptibility 2 mondo_mondo_0013092_medgen_c2751642_omim_613028_orphanet_182067 MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028,Orphanet:182067 52 52 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E5 0.365385 239 PTEN:exon_block:E3-E7 0.788462 32507 PTEN:boundary_CDS_coverage:after_E1 0.942308 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 36 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Lynch-like syndrome lynch_like_syndrome . 52 52 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E6 0.115385 92 MLH1:exon_block:E5-E9 0.307692 7554 MLH1:boundary_CDS_coverage:after_E1 0.961538 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 87 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 52 52 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.557692 4932 BRCA2:exon_block:E7-E11 0.673077 14698 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 109 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 TP53-related disorder tp53_related_disorder . 50 50 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.220000 184 TP53:exon_block:E4-E8 0.900000 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 40 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Dilated cardiomyopathy 1GG mondo_mondo_0013339_medgen_c3150898_omim_613642_orphanet_154 MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154 47 47 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHA:single_exon:E6 0.127660 149 SDHA:exon_block:E9-E13 0.510638 16325 SDHA:boundary_CDS_coverage:after_E1 0.957447 1929 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 65 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 47 47 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.468085 1473 PALB2:exon_block:E4-E8 0.702128 12326 PALB2:boundary_CDS_coverage:after_E1 0.978723 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 55 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Tibial pseudarthrosis human_phenotype_ontology_hp_0009736_medgen_c4024216 Human_Phenotype_Ontology:HP:0009736,MedGen:C4024216 45 45 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E18 0.088889 250 NF1:exon_block:E36-E40 0.222222 69803 NF1:boundary_CDS_coverage:after_E1 0.977778 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 229 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 45 45 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRIP1:single_exon:E19 0.133333 330 BRIP1:exon_block:E7-E11 0.355556 24488 BRIP1:boundary_CDS_coverage:after_E1 1.000000 3747 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 90 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 PALB2-related disorder palb2_related_disorder . 43 43 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.372093 1473 PALB2:exon_block:E3-E7 0.674419 11717 PALB2:boundary_CDS_coverage:after_E1 1.000000 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 54 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 43 43 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MUTYH:single_exon:E3 0.139535 149 MUTYH:exon_block:E9-E13 0.441860 1069 MUTYH:boundary_CDS_coverage:after_E1 0.953488 1563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 69 record-level condition-associated architecture; not patient coverage or disease prevalence APC Desmoid disease, hereditary medgen_c1851124_omim_135290_orphanet_873 MedGen:C1851124,OMIM:135290,Orphanet:873 43 43 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.418605 8687 APC:exon_block:E12-E16 0.488372 19132 APC:boundary_CDS_coverage:after_E1 0.953488 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 68 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Mismatch repair cancer syndrome 1 mondo_mondo_0010159_medgen_c5399763_omim_276300_orphanet_252202 MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202 41 41 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MLH1:single_exon:E18 0.146341 114 MLH1:exon_block:E15-E19 0.390244 8579 MLH1:boundary_CDS_coverage:after_E1 0.902439 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 83 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Lynch-like syndrome lynch_like_syndrome . 40 40 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E7 0.125000 200 MSH2:exon_block:E3-E7 0.400000 19848 MSH2:boundary_CDS_coverage:after_E1 0.975000 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 70 record-level condition-associated architecture; not patient coverage or disease prevalence APC Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 40 40 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.500000 8687 APC:exon_block:E13-E16 0.600000 18311 APC:boundary_CDS_coverage:after_E1 1.000000 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 69 record-level condition-associated architecture; not patient coverage or disease prevalence APC Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 40 40 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.475000 8687 APC:exon_block:E14-E16 0.550000 17384 APC:boundary_CDS_coverage:after_E1 1.000000 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 66 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 39 39 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.307692 184 TP53:exon_block:E4-E8 0.846154 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 44 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 39 39 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.512821 2545 MSH6:exon_block:E2-E6 0.846154 14101 MSH6:boundary_CDS_coverage:after_E1 1.000000 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 39 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 39 39 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E26 0.076923 247 ATM:exon_block:E52-E56 0.205128 4083 ATM:boundary_CDS_coverage:after_E1 1.000000 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 208 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 PALB2-related cancer predisposition mondo_mondo_0700272_medgen_cn377761 MONDO:MONDO:0700272,MedGen:CN377761 36 36 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.305556 1473 PALB2:exon_block:E2-E6 0.583333 8926 PALB2:boundary_CDS_coverage:after_E1 0.972222 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 56 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome mondo_mondo_0018445_medgen_c4748924_omim_618272_orphanet_404476 MONDO:MONDO:0018445,MedGen:C4748924,OMIM:618272,Orphanet:404476 36 36 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution DICER1:single_exon:E23 0.138889 889 DICER1:exon_block:E21-E25 0.444444 12924 DICER1:boundary_CDS_coverage:after_E1 1.000000 5766 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 105 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Bone osteosarcoma mondo_mondo_0002629_medgen_c0585442_omim_259500_orphanet_668 MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668 36 36 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CHEK2:single_exon:E2 0.250000 325 CHEK2:exon_block:E2-E6 0.611111 22819 CHEK2:boundary_CDS_coverage:after_E1 1.000000 1629 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 65 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 MSH6-related disorder msh6_related_disorder . 35 35 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.628571 2545 MSH6:exon_block:E3-E7 0.885714 9814 MSH6:boundary_CDS_coverage:after_E1 0.942857 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 40 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 35 35 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.457143 4932 BRCA2:exon_block:E8-E11 0.685714 11754 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 88 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 35 35 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.428571 3426 BRCA1:exon_block:E6-E10 0.571429 12827 BRCA1:boundary_CDS_coverage:after_E1 1.000000 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 98 record-level condition-associated architecture; not patient coverage or disease prevalence APC Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 35 35 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.400000 8687 APC:exon_block:E14-E16 0.485714 17384 APC:boundary_CDS_coverage:after_E1 1.000000 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 66 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 34 34 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.588235 4932 BRCA2:exon_block:E9-E13 0.735294 15978 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 86 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 TSC2-related disorder tsc2_related_disorder . 33 33 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC2:single_exon:E37 0.121212 187 TSC2:exon_block:E36-E39 0.242424 2712 TSC2:boundary_CDS_coverage:after_E1 1.000000 5421 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 155 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Inherited ovarian cancer (without breast cancer) inherited_ovarian_cancer_without_breast_cancer . 33 33 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA2:single_exon:E11 0.666667 4932 BRCA2:exon_block:E10-E14 0.848485 23017 BRCA2:boundary_CDS_coverage:after_E1 1.000000 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 81 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN PTEN-related disorder pten_related_disorder . 32 32 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E8 0.343750 225 PTEN:exon_block:E4-E8 0.937500 30073 PTEN:boundary_CDS_coverage:after_E1 0.968750 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 35 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Cowden syndrome mondo_mondo_0016063_medgen_c0018553_omim_ps158350_orphanet_201 MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201 32 32 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E5 0.343750 239 PTEN:exon_block:E5-E8 0.812500 28106 PTEN:boundary_CDS_coverage:after_E1 0.968750 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 35 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Pleuropulmonary blastoma human_phenotype_ontology_hp_0100528_mondo_mondo_0011014_medgen_c1266144_omim_601200_orphanet_64742 Human_Phenotype_Ontology:HP:0100528,MONDO:MONDO:0011014,MedGen:C1266144,OMIM:601200,Orphanet:64742 32 32 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution DICER1:single_exon:E25 0.218750 163 DICER1:exon_block:E21-E25 0.406250 12924 DICER1:boundary_CDS_coverage:after_E1 1.000000 5766 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 106 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 32 32 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRIP1:single_exon:E7 0.156250 291 BRIP1:exon_block:E7-E11 0.406250 24488 BRIP1:boundary_CDS_coverage:after_E1 1.000000 3747 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 89 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Familial spontaneous pneumothorax mondo_mondo_0008259_medgen_c1868193_omim_173600_orphanet_2903 MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903 31 31 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FLCN:single_exon:E12 0.225806 132 FLCN:exon_block:E9-E13 0.516129 4225 FLCN:boundary_CDS_coverage:after_E1 1.000000 1737 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 55 record-level condition-associated architecture; not patient coverage or disease prevalence APC Gastric adenocarcinoma and proximal polyposis of the stomach mondo_mondo_0017790_medgen_c4749917_omim_619182_orphanet_314022 MONDO:MONDO:0017790,MedGen:C4749917,OMIM:619182,Orphanet:314022 31 31 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.451613 8687 APC:exon_block:E15-E16 0.483871 11289 APC:boundary_CDS_coverage:after_E1 0.935484 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 63 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Familial meningioma mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 30 30 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E5 0.200000 239 PTEN:exon_block:E3-E7 0.766667 32507 PTEN:boundary_CDS_coverage:after_E1 0.900000 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 36 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 30 30 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution CHEK2:single_exon:E2 0.166667 325 CHEK2:exon_block:E2-E6 0.500000 22819 CHEK2:boundary_CDS_coverage:after_E1 1.000000 1629 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 65 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 29 29 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RAD51C:single_exon:E2 0.275862 259 RAD51C:exon_block:E1-E5 0.827586 17389 RAD51C:boundary_CDS_coverage:after_E1 0.896552 983 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 36 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Inherited MMR deficiency (Lynch syndrome) inherited_mmr_deficiency_lynch_syndrome . 29 29 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.517241 2545 MSH6:exon_block:E2-E6 0.827586 14101 MSH6:boundary_CDS_coverage:after_E1 0.965517 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 39 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 29 29 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.379310 2545 MSH6:exon_block:E3-E6 0.758621 9134 MSH6:boundary_CDS_coverage:after_E1 0.896552 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 40 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Mismatch repair cancer syndrome 1 mondo_mondo_0010159_medgen_c5399763_omim_276300_orphanet_252202 MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202 28 28 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PMS2:single_exon:E11 0.214286 862 PMS2:exon_block:E7-E11 0.428571 10665 PMS2:boundary_CDS_coverage:after_E1 0.857143 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 65 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Familial ovarian cancer mondo_mondo_0016248_medgen_c5679802 MONDO:MONDO:0016248,MedGen:C5679802 28 28 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRIP1:single_exon:E7 0.142857 291 BRIP1:exon_block:E6-E10 0.571429 53624 BRIP1:boundary_CDS_coverage:after_E1 1.000000 3747 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 81 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Lymphangiomyomatosis mondo_mondo_0011705_medgen_c0751674_omim_606690_orphanet_538 MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538 27 27 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC1:single_exon:E18 0.185185 183 TSC1:exon_block:E14-E18 0.481481 4231 TSC1:boundary_CDS_coverage:after_E1 1.000000 3492 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 91 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 PMS2-related disorder pms2_related_disorder . 27 27 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PMS2:single_exon:E11 0.222222 862 PMS2:exon_block:E11-E15 0.518519 16696 PMS2:boundary_CDS_coverage:after_E1 0.925926 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 63 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Isolated focal cortical dysplasia type II human_phenotype_ontology_hp_0032051_mondo_mondo_0011818_medgen_c1846385_omim_607341_orphanet_268994 Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994 26 26 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TSC1:single_exon:E17 0.192308 167 TSC1:exon_block:E14-E18 0.461538 4231 TSC1:boundary_CDS_coverage:after_E1 1.000000 3492 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 98 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 26 26 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.461538 1473 PALB2:exon_block:E4-E8 0.807692 12326 PALB2:boundary_CDS_coverage:after_E1 0.961538 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 51 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 26 26 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.538462 3426 BRCA1:exon_block:E9-E10 0.538462 4488 BRCA1:boundary_CDS_coverage:after_E1 0.961538 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 75 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 26 26 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E37 0.076923 178 ATM:exon_block:E47-E50 0.192308 4364 ATM:boundary_CDS_coverage:after_E1 1.000000 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 209 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Inherited ovarian cancer (without breast cancer) inherited_ovarian_cancer_without_breast_cancer . 25 25 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRCA1:single_exon:E10 0.360000 3426 BRCA1:exon_block:E6-E10 0.440000 12827 BRCA1:boundary_CDS_coverage:after_E1 1.000000 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 84 record-level condition-associated architecture; not patient coverage or disease prevalence APC APC-related disorder apc_related_disorder . 25 25 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution APC:single_exon:E16 0.640000 8687 APC:exon_block:E14-E16 0.680000 17384 APC:boundary_CDS_coverage:after_E1 1.000000 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 55 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 24 24 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.291667 184 TP53:exon_block:E4-E8 0.833333 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 43 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Glioma susceptibility 1 mondo_mondo_0024498_medgen_c2750850_omim_137800 MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800 24 24 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.250000 184 TP53:exon_block:E4-E8 0.791667 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 45 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 24 24 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.250000 184 TP53:exon_block:E4-E8 0.833333 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 44 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Choroid plexus papilloma human_phenotype_ontology_hp_0200022_mondo_mondo_0009837_medgen_c0205770_omim_260500_orphanet_251899_orphanet_2807 Human_Phenotype_Ontology:HP:0200022,MONDO:MONDO:0009837,MedGen:C0205770,OMIM:260500,Orphanet:251899,Orphanet:2807 24 24 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.291667 184 TP53:exon_block:E4-E8 0.791667 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 45 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 24 24 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution BRIP1:single_exon:E18 0.125000 83 BRIP1:exon_block:E16-E20 0.375000 63996 BRIP1:boundary_CDS_coverage:after_E1 1.000000 3747 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 88 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 24 24 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E37 0.125000 178 ATM:exon_block:E35-E37 0.166667 3205 ATM:boundary_CDS_coverage:after_E1 1.000000 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 207 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Nasopharyngeal carcinoma mondo_mondo_0015459_medgen_c2931822_omim_607107_orphanet_150 MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:150 23 23 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E8 0.304348 137 TP53:exon_block:E4-E8 0.826087 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 43 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Bone osteosarcoma mondo_mondo_0002629_medgen_c0585442_omim_259500_orphanet_668 MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668 23 23 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.304348 184 TP53:exon_block:E4-E8 0.826087 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 43 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Basal cell carcinoma, susceptibility to, 7 mondo_mondo_0013876_medgen_c3553606_omim_614740 MONDO:MONDO:0013876,MedGen:C3553606,OMIM:614740 23 23 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.260870 184 TP53:exon_block:E4-E8 0.782609 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 45 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 23 23 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution RAD51D:single_exon:E5 0.260870 135 RAD51D:exon_block:E5-E9 0.782609 5922 RAD51D:boundary_CDS_coverage:after_E1 0.956522 902 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 40 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 23 23 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.434783 1473 PALB2:exon_block:E3-E7 0.826087 11717 PALB2:boundary_CDS_coverage:after_E1 1.000000 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 52 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 23 23 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PALB2:single_exon:E4 0.304348 1473 PALB2:exon_block:E3-E7 0.652174 11717 PALB2:boundary_CDS_coverage:after_E1 1.000000 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 50 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Euthyroid goiter human_phenotype_ontology_hp_0009798_mondo_mondo_0007681_medgen_c0302859_omim_138800_orphanet_276399 Human_Phenotype_Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800,Orphanet:276399 23 23 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution DICER1:single_exon:E25 0.217391 163 DICER1:exon_block:E15-E19 0.347826 2826 DICER1:boundary_CDS_coverage:after_E1 1.000000 5766 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 104 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Bone marrow failure syndrome 5 mondo_mondo_0032573_medgen_c4748488_omim_618165 MONDO:MONDO:0032573,MedGen:C4748488,OMIM:618165 22 22 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution TP53:single_exon:E5 0.227273 184 TP53:exon_block:E4-E8 0.727273 2572 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 44 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities mondo_mondo_0060760_medgen_c4748135_omim_618089 MONDO:MONDO:0060760,MedGen:C4748135,OMIM:618089 22 22 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:boundary_CDS_coverage:after_E1 1.000000 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 2 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Familial colorectal cancer type X mondo_mondo_0018604_medgen_c3896578_orphanet_440437 MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 22 22 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E10 0.090909 372 ATM:exon_block:E49-E52 0.181818 3017 ATM:boundary_CDS_coverage:after_E1 0.954545 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 192 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Neurodegeneration with ataxia and late-onset optic atrophy mondo_mondo_0031006_medgen_c5543254_omim_619259 MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259 21 21 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution SDHA:single_exon:E12 0.190476 112 SDHA:exon_block:E10-E13 0.476190 15041 SDHA:boundary_CDS_coverage:after_E1 0.857143 1929 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 62 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 21 21 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution PTEN:single_exon:E5 0.238095 239 PTEN:exon_block:E5-E9 0.714286 38918 PTEN:boundary_CDS_coverage:after_E1 0.904762 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 36 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Nonpapillary renal cell carcinoma mondo_mondo_0007763_medgen_cn074294_omim_144700_orphanet_422526 MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526 21 21 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FLCN:single_exon:E12 0.190476 132 FLCN:exon_block:E11-E14 0.476190 4292 FLCN:boundary_CDS_coverage:after_E1 1.000000 1737 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 54 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 20 20 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution NF1:single_exon:E22 0.100000 140 NF1:exon_block:E18-E22 0.250000 3540 NF1:boundary_CDS_coverage:after_E1 1.000000 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 187 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 20 20 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MUTYH:single_exon:E10 0.200000 145 MUTYH:exon_block:E9-E13 0.650000 1069 MUTYH:boundary_CDS_coverage:after_E1 1.000000 1563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 65 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Lynch-like syndrome lynch_like_syndrome . 20 20 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH6:single_exon:E4 0.600000 2545 MSH6:exon_block:E4-E8 0.950000 7748 MSH6:boundary_CDS_coverage:after_E1 1.000000 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 34 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Inherited MMR deficiency (Lynch syndrome) inherited_mmr_deficiency_lynch_syndrome . 20 20 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution MSH2:single_exon:E5 0.150000 150 MSH2:exon_block:E11-E15 0.450000 9907 MSH2:boundary_CDS_coverage:after_E1 0.900000 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 67 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 20 20 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution FLCN:single_exon:E12 0.200000 132 FLCN:exon_block:E11-E14 0.500000 4292 FLCN:boundary_CDS_coverage:after_E1 1.000000 1737 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 54 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 20 20 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E10 0.150000 372 ATM:exon_block:E10-E13 0.250000 3339 ATM:boundary_CDS_coverage:after_E1 1.000000 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 150 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Breast cancer, susceptibility to medgen_c3469522 MedGen:C3469522 20 20 condition_architecture_interpretable condition_tumor_predisposition_control_context gene-level tumor-predisposition control; condition facet retained as caution ATM:single_exon:E10 0.100000 372 ATM:exon_block:E37-E40 0.200000 7824 ATM:boundary_CDS_coverage:after_E1 1.000000 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 161 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 1450 1450 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 1383 1383 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 1199 1199 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 1169 1169 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 1063 1063 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 1058 1058 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 850 850 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 750 750 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 condition not provided condition_not_provided .|MedGen:C3661900 749 749 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 746 746 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 716 716 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 698 698 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 667 667 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 640 640 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 621 621 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 619 619 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 565 565 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 538 538 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 504 504 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 condition not provided condition_not_provided MedGen:C3661900 501 501 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 468 468 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 465 465 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 465 465 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 462 462 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 443 443 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 432 432 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 423 423 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 401 401 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 399 399 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 396 396 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 387 387 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 378 378 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 377 377 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH3 condition not provided condition_not_provided MedGen:C3661900 374 374 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FH condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 371 371 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 370 370 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 365 365 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 364 364 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 359 359 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 358 358 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 356 356 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 351 351 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13A condition not provided condition_not_provided MedGen:C3661900 346 346 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 338 338 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 335 335 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 328 328 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 319 319 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTC condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 314 314 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 condition not provided condition_not_provided MedGen:C3661900 305 305 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 condition not provided condition_not_provided MedGen:C3661900 305 305 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 285 285 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 condition not provided condition_not_provided MedGen:C3661900 284 284 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 283 283 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 283 283 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 280 280 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 279 279 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 277 277 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 269 269 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 condition not provided condition_not_provided .|MedGen:C3661900 268 268 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 264 264 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 260 260 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 259 259 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 253 253 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 253 253 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 253 253 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 252 252 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 249 249 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 249 249 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 245 245 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 245 245 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 244 244 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 240 240 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCNT condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 240 240 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 240 240 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 237 237 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 condition not provided condition_not_provided MedGen:C3661900 233 233 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 231 231 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 231 231 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 230 230 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 228 228 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHM condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 228 228 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 228 228 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 227 227 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 227 227 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 225 225 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 225 225 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 condition not provided condition_not_provided MedGen:C3661900 220 220 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 219 219 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 219 219 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 216 216 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 210 210 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRAS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 205 205 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 205 205 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 205 205 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS condition not provided condition_not_provided .|MedGen:C3661900 204 204 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 202 202 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 200 200 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 197 197 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK3 condition not provided condition_not_provided MedGen:C3661900 195 195 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 193 193 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 193 193 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOX2 condition not provided condition_not_provided MedGen:C3661900 192 192 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 192 192 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 190 190 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 190 190 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 condition not provided condition_not_provided MedGen:C3661900 187 187 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 187 187 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 187 187 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 184 184 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 184 184 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 182 182 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 182 182 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 condition not provided condition_not_provided MedGen:C3661900 180 180 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 178 178 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 condition not provided condition_not_provided MedGen:C3661900 177 177 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEB condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 176 176 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 175 175 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 175 175 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 174 174 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 173 173 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 173 173 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 173 173 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 171 171 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 171 171 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 169 169 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 condition not provided condition_not_provided MedGen:C3661900 165 165 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS3 condition not provided condition_not_provided MedGen:C3661900 163 163 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 163 163 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 162 162 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 162 162 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS2 condition not provided condition_not_provided MedGen:C3661900 160 160 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA12 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 160 160 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRPPRC condition not provided condition_not_provided MedGen:C3661900 158 158 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 158 158 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 157 157 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 157 157 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF31 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 156 156 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 156 156 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 155 155 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC3 condition not provided condition_not_provided MedGen:C3661900 155 155 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 154 154 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL4 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 154 154 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 condition not provided condition_not_provided MedGen:C3661900 153 153 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 153 153 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SZT2 condition not provided condition_not_provided MedGen:C3661900 152 152 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 152 152 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 152 152 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 condition not provided condition_not_provided MedGen:C3661900 152 152 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 152 152 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF469 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 151 151 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXMIF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 151 151 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 151 151 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 147 147 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 146 146 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 145 145 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP2 condition not provided condition_not_provided MedGen:C3661900 144 144 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC condition not provided condition_not_provided MedGen:C3661900 143 143 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT condition not provided condition_not_provided .|MedGen:C3661900 139 139 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B condition not provided condition_not_provided .|MedGen:C3661900 137 137 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 137 137 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 137 137 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL condition not provided condition_not_provided .|MedGen:C3661900 136 136 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 135 135 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS condition not provided condition_not_provided MedGen:C3661900 131 131 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC2 condition not provided condition_not_provided MedGen:C3661900 130 130 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL27A1 condition not provided condition_not_provided MedGen:C3661900 130 130 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 129 129 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPING1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 128 128 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM161A condition not provided condition_not_provided MedGen:C3661900 128 128 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH9 condition not provided condition_not_provided MedGen:C3661900 128 128 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 128 128 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM1 condition not provided condition_not_provided MedGen:C3661900 127 127 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 127 127 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 126 126 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 126 126 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP152 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 126 126 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A11 condition not provided condition_not_provided MedGen:C3661900 125 125 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATR condition not provided condition_not_provided MedGen:C3661900 125 125 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 124 124 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 123 123 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 122 122 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 122 122 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS1 condition not provided condition_not_provided MedGen:C3661900 122 122 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 condition not provided condition_not_provided MedGen:C3661900 122 122 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 121 121 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO18B condition not provided condition_not_provided MedGen:C3661900 121 121 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 121 121 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SI condition not provided condition_not_provided MedGen:C3661900 120 120 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 120 120 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 120 120 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF3 condition not provided condition_not_provided MedGen:C3661900 120 120 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 120 120 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIFR condition not provided condition_not_provided MedGen:C3661900 119 119 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC80 condition not provided condition_not_provided MedGen:C3661900 118 118 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLE1 condition not provided condition_not_provided MedGen:C3661900 118 118 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 118 118 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 117 117 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B condition not provided condition_not_provided MedGen:C3661900 117 117 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 117 117 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESCO2 condition not provided condition_not_provided MedGen:C3661900 117 117 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 condition not provided condition_not_provided MedGen:C3661900 116 116 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB1 condition not provided condition_not_provided MedGen:C3661900 116 116 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASNS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 116 116 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C condition not provided condition_not_provided MedGen:C3661900 115 115 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP6 condition not provided condition_not_provided MedGen:C3661900 114 114 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA condition not provided condition_not_provided MedGen:C3661900 114 114 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 condition not provided condition_not_provided .|MedGen:C3661900 114 114 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC2 condition not provided condition_not_provided MedGen:C3661900 113 113 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS5 condition not provided condition_not_provided MedGen:C3661900 113 113 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 113 113 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 113 113 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 condition not provided condition_not_provided MedGen:C3661900 111 111 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 111 111 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE condition not provided condition_not_provided .|MedGen:C3661900 109 109 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 109 109 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYMP condition not provided condition_not_provided MedGen:C3661900 108 108 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPDZ condition not provided condition_not_provided MedGen:C3661900 108 108 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 108 108 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 condition not provided condition_not_provided MedGen:C3661900 107 107 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 107 107 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 107 107 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 107 107 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 107 107 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 105 105 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS condition not provided condition_not_provided .|MedGen:C3661900 105 105 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 105 105 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALT condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 105 105 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 104 104 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 104 104 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 condition not provided condition_not_provided .|MedGen:C3661900 103 103 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 condition not provided condition_not_provided MedGen:C3661900 103 103 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 103 103 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMU condition not provided condition_not_provided MedGen:C3661900 102 102 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 101 101 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 101 101 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 101 101 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 condition not provided condition_not_provided MedGen:C3661900 101 101 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 100 100 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTTP condition not provided condition_not_provided MedGen:C3661900 100 100 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 99 99 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 99 99 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTHL1 condition not provided condition_not_provided MedGen:C3661900 98 98 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 98 98 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 98 98 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 98 98 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 condition not provided condition_not_provided MedGen:C3661900 98 98 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A1 condition not provided condition_not_provided .|MedGen:C3661900 97 97 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPL condition not provided condition_not_provided .|MedGen:C3661900 96 96 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 96 96 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A4 condition not provided condition_not_provided MedGen:C3661900 95 95 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 95 95 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH3A2 condition not provided condition_not_provided MedGen:C3661900 95 95 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 condition not provided condition_not_provided MedGen:C3661900 94 94 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 94 94 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 94 94 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 93 93 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 93 93 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD4 condition not provided condition_not_provided MedGen:C3661900 93 93 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA condition not provided condition_not_provided MedGen:C3661900 93 93 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 92 92 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 91 91 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 91 91 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP250 condition not provided condition_not_provided MedGen:C3661900 91 91 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 91 91 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 91 91 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 90 90 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 90 90 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 90 90 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 89 89 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC3 condition not provided condition_not_provided MedGen:C3661900 89 89 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 89 89 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC condition not provided condition_not_provided MedGen:C3661900 89 89 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 89 89 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 88 88 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKLR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 88 88 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM3AP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 88 88 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 88 88 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 condition not provided condition_not_provided MedGen:C3661900 88 88 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 88 88 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 88 88 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 88 88 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTLL5 condition not provided condition_not_provided MedGen:C3661900 87 87 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 87 87 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 87 87 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 87 87 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 condition not provided condition_not_provided MedGen:C3661900 87 87 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 86 86 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 86 86 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 86 86 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 85 85 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 85 85 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 85 85 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM1 condition not provided condition_not_provided MedGen:C3661900 84 84 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A2 condition not provided condition_not_provided MedGen:C3661900 84 84 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 84 84 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 84 84 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6A condition not provided condition_not_provided MedGen:C3661900 84 84 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 84 84 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B2 condition not provided condition_not_provided MedGen:C3661900 84 84 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 condition not provided condition_not_provided MedGen:C3661900 84 84 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 83 83 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO condition not provided condition_not_provided MedGen:C3661900 83 83 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 83 83 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 83 83 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 83 83 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 82 82 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 82 82 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 82 82 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 condition not provided condition_not_provided MedGen:C3661900 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 condition not provided condition_not_provided MedGen:C3661900 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASAH1 condition not provided condition_not_provided MedGen:C3661900 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 81 81 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 condition not provided condition_not_provided MedGen:C3661900 80 80 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPG2 condition not provided condition_not_provided MedGen:C3661900 80 80 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 80 80 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 80 80 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC88C condition not provided condition_not_provided MedGen:C3661900 80 80 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYRP1 condition not provided condition_not_provided MedGen:C3661900 79 79 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 79 79 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 condition not provided condition_not_provided MedGen:C3661900 78 78 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAK condition not provided condition_not_provided MedGen:C3661900 78 78 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 78 78 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 78 78 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 condition not provided condition_not_provided .|MedGen:C3661900 78 78 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 77 77 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 77 77 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 77 77 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 76 76 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A3 condition not provided condition_not_provided MedGen:C3661900 76 76 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 76 76 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 76 76 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME condition not provided condition_not_provided .|MedGen:C3661900 76 76 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MERTK condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 76 76 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L condition not provided condition_not_provided MedGen:C3661900 76 76 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS condition not provided condition_not_provided MedGen:C3661900 76 76 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCD condition not provided condition_not_provided MedGen:C3661900 75 75 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 75 75 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 condition not provided condition_not_provided MedGen:C3661900 75 75 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF5 condition not provided condition_not_provided MedGen:C3661900 75 75 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 75 75 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOGA1 condition not provided condition_not_provided MedGen:C3661900 75 75 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHPR condition not provided condition_not_provided MedGen:C3661900 75 75 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 75 75 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 74 74 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 73 73 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 73 73 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 73 73 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS13 condition not provided condition_not_provided MedGen:C3661900 73 73 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 72 72 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 72 72 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS6 condition not provided condition_not_provided MedGen:C3661900 72 72 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 72 72 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 71 71 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 71 71 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 71 71 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 condition not provided condition_not_provided MedGen:C3661900 71 71 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 71 71 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFAIP3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 70 70 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS15 condition not provided condition_not_provided MedGen:C3661900 70 70 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK6 condition not provided condition_not_provided MedGen:C3661900 70 70 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 70 70 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 70 70 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAR condition not provided condition_not_provided MedGen:C3661900 69 69 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS condition not provided condition_not_provided MedGen:C3661900 69 69 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 69 69 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 69 69 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCLO condition not provided condition_not_provided MedGen:C3661900 69 69 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLC1 condition not provided condition_not_provided MedGen:C3661900 69 69 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 69 69 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 69 69 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 condition not provided condition_not_provided MedGen:C3661900 68 68 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 68 68 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEPD condition not provided condition_not_provided MedGen:C3661900 68 68 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 68 68 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2CD3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 68 68 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTK condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 68 68 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 67 67 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARMIL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 67 67 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 67 67 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPA condition not provided condition_not_provided MedGen:C3661900 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 condition not provided condition_not_provided .|MedGen:C3661900 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A condition not provided condition_not_provided MedGen:C3661900 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADM condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 66 66 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 65 65 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 condition not provided condition_not_provided MedGen:C3661900 65 65 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 condition not provided condition_not_provided .|MedGen:C3661900 65 65 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 65 65 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK condition not provided condition_not_provided MedGen:C3661900 65 65 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 65 65 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 65 65 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 65 65 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 condition not provided condition_not_provided MedGen:C3661900 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA1 condition not provided condition_not_provided MedGen:C3661900 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E condition not provided condition_not_provided .|MedGen:C3661900 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 64 64 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED17 condition not provided condition_not_provided MedGen:C3661900 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B condition not provided condition_not_provided MedGen:C3661900 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 63 63 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 condition not provided condition_not_provided MedGen:C3661900 62 62 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 62 62 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTTN condition not provided condition_not_provided .|MedGen:C3661900 62 62 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 62 62 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMO3 condition not provided condition_not_provided MedGen:C3661900 62 62 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM37 condition not provided condition_not_provided .|MedGen:C3661900 61 61 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TONSL condition not provided condition_not_provided MedGen:C3661900 61 61 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL condition not provided condition_not_provided MedGen:C3661900 61 61 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 61 61 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5B condition not provided condition_not_provided MedGen:C3661900 61 61 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 condition not provided condition_not_provided MedGen:C3661900 61 61 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 61 61 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 60 60 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 60 60 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FECH condition not provided condition_not_provided MedGen:C3661900 60 60 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 60 60 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13C condition not provided condition_not_provided MedGen:C3661900 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 condition not provided condition_not_provided MedGen:C3661900 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 condition not provided condition_not_provided MedGen:C3661900 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 condition not provided condition_not_provided MedGen:C3661900 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO10 condition not provided condition_not_provided MedGen:C3661900 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 59 59 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA condition not provided condition_not_provided MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIOBP condition not provided condition_not_provided .|MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 condition not provided condition_not_provided MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F condition not provided condition_not_provided MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 condition not provided condition_not_provided .|MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOA condition not provided condition_not_provided MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 condition not provided condition_not_provided MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH condition not provided condition_not_provided MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK3 condition not provided condition_not_provided MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGAT1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 condition not provided condition_not_provided .|MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL condition not provided condition_not_provided MedGen:C3661900 58 58 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSFM condition not provided condition_not_provided MedGen:C3661900 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TK2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C condition not provided condition_not_provided MedGen:C3661900 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C7 condition not provided condition_not_provided MedGen:C3661900 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS17 condition not provided condition_not_provided MedGen:C3661900 57 57 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 56 56 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS23 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 56 56 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 condition not provided condition_not_provided .|MedGen:C3661900 56 56 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 56 56 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 condition not provided condition_not_provided MedGen:C3661900 56 56 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR condition not provided condition_not_provided MedGen:C3661900 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCOF1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A8 condition not provided condition_not_provided MedGen:C3661900 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEU1 condition not provided condition_not_provided MedGen:C3661900 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HJV condition not provided condition_not_provided MedGen:C3661900 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4V2 condition not provided condition_not_provided MedGen:C3661900 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP condition not provided condition_not_provided MedGen:C3661900 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CP condition not provided condition_not_provided .|MedGen:C3661900 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVPR2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 55 55 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 54 54 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARP7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 54 54 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM6 condition not provided condition_not_provided MedGen:C3661900 54 54 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 54 54 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 54 54 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 54 54 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP78 condition not provided condition_not_provided MedGen:C3661900 54 54 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC20A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RXYLT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B2 condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD2B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMXL2 condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGUOK condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C6 condition not provided condition_not_provided MedGen:C3661900 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 53 53 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNT3 condition not provided condition_not_provided MedGen:C3661900 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 condition not provided condition_not_provided MedGen:C3661900 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP19A1 condition not provided condition_not_provided MedGen:C3661900 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS18 condition not provided condition_not_provided MedGen:C3661900 52 52 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG condition not provided condition_not_provided MedGen:C3661900 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACO2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 51 51 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR1 condition not provided condition_not_provided MedGen:C3661900 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCE condition not provided condition_not_provided MedGen:C3661900 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 condition not provided condition_not_provided MedGen:C3661900 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCPH1 condition not provided condition_not_provided .|MedGen:C3661900 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB condition not provided condition_not_provided MedGen:C3661900 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A condition not provided condition_not_provided MedGen:C3661900 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 50 50 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 condition not provided condition_not_provided MedGen:C3661900 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5DC1 condition not provided condition_not_provided MedGen:C3661900 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL10A1 condition not provided condition_not_provided MedGen:C3661900 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFI condition not provided condition_not_provided MedGen:C3661900 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCN6 condition not provided condition_not_provided MedGen:C3661900 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMTA1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 49 49 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RG condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFAP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C5 condition not provided condition_not_provided MedGen:C3661900 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHB condition not provided condition_not_provided MedGen:C3661900 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 48 48 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A2 condition not provided condition_not_provided MedGen:C3661900 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIZ condition not provided condition_not_provided MedGen:C3661900 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH condition not provided condition_not_provided MedGen:C3661900 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1B condition not provided condition_not_provided .|MedGen:C3661900 47 47 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13D condition not provided condition_not_provided MedGen:C3661900 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H2 condition not provided condition_not_provided MedGen:C3661900 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 condition not provided condition_not_provided MedGen:C3661900 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A condition not provided condition_not_provided MedGen:C3661900 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 46 46 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROD condition not provided condition_not_provided MedGen:C3661900 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB condition not provided condition_not_provided .|MedGen:C3661900 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH condition not provided condition_not_provided .|MedGen:C3661900 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHYH condition not provided condition_not_provided MedGen:C3661900 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6L2 condition not provided condition_not_provided MedGen:C3661900 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF1R condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFH condition not provided condition_not_provided MedGen:C3661900 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C9 condition not provided condition_not_provided MedGen:C3661900 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 condition not provided condition_not_provided MedGen:C3661900 45 45 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TJP2 condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORB condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH5 condition not provided condition_not_provided .|MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX condition not provided condition_not_provided .|MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLM condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG8 condition not provided condition_not_provided MedGen:C3661900 44 44 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 condition not provided condition_not_provided MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 condition not provided condition_not_provided .|MedGen:C3661900 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCM2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 43 43 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN condition not provided condition_not_provided MedGen:C3661900 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 condition not provided condition_not_provided MedGen:C3661900 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLH condition not provided condition_not_provided .|MedGen:C3661900 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGN condition not provided condition_not_provided MedGen:C3661900 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT81 condition not provided condition_not_provided MedGen:C3661900 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMD7 condition not provided condition_not_provided MedGen:C3661900 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL3 condition not provided condition_not_provided MedGen:C3661900 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 condition not provided condition_not_provided MedGen:C3661900 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 42 42 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK5 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS2 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ1 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B3 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECHS1 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27A1 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK5RAP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2C1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC9 condition not provided condition_not_provided MedGen:C3661900 41 41 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 condition not provided condition_not_provided MedGen:C3661900 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS1 condition not provided condition_not_provided MedGen:C3661900 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPAA1 condition not provided condition_not_provided MedGen:C3661900 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GORAB condition not provided condition_not_provided MedGen:C3661900 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F7 condition not provided condition_not_provided .|MedGen:C3661900 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELANE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP135 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 40 40 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEG condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN23 condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO3A condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0753 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA6 condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS4 condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHR condition not provided condition_not_provided .|MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD1 condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDAN1 condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C8B condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP2 condition not provided condition_not_provided MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 condition not provided condition_not_provided .|MedGen:C3661900 39 39 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 condition not provided condition_not_provided .|MedGen:C3661900 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 condition not provided condition_not_provided MedGen:C3661900 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROP1 condition not provided condition_not_provided MedGen:C3661900 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYCN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MESP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCT condition not provided condition_not_provided MedGen:C3661900 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 condition not provided condition_not_provided MedGen:C3661900 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTCF condition not provided condition_not_provided .|MedGen:C3661900 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 condition not provided condition_not_provided MedGen:C3661900 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIP condition not provided condition_not_provided MedGen:C3661900 38 38 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 condition not provided condition_not_provided MedGen:C3661900 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3B condition not provided condition_not_provided MedGen:C3661900 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 condition not provided condition_not_provided .|MedGen:C3661900 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUSC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 condition not provided condition_not_provided MedGen:C3661900 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL condition not provided condition_not_provided MedGen:C3661900 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 condition not provided condition_not_provided MedGen:C3661900 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AEBP1 condition not provided condition_not_provided MedGen:C3661900 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 37 37 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WHRN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VLDLR condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RINT1 condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGS9 condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGCX condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNS condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC21 condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP1 condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH1L condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSG condition not provided condition_not_provided MedGen:C3661900 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 36 36 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3IP1 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX20 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMN1 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINC1 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON condition not provided condition_not_provided .|MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1B condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICU1 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC1 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTPBP3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR179 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFNB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX15 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHA condition not provided condition_not_provided MedGen:C3661900 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIRE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 35 35 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 condition not provided condition_not_provided MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELA condition not provided condition_not_provided MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 condition not provided condition_not_provided MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 condition not provided condition_not_provided .|MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSL1 condition not provided condition_not_provided MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1-AS1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 condition not provided condition_not_provided MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MID1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 condition not provided condition_not_provided MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPAT condition not provided condition_not_provided MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A4 condition not provided condition_not_provided MedGen:C3661900 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3B2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 34 34 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMOD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE4 condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A5 condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A1 condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1D condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 condition not provided condition_not_provided .|MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIVEP2 condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11A1 condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CWC27 condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC88A condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRPF1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD12 condition not provided condition_not_provided MedGen:C3661900 33 33 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF454 condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A5 condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC27A4 condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN1 condition not provided condition_not_provided MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 condition not provided condition_not_provided .|MedGen:C3661900 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 32 32 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP3A condition not provided condition_not_provided MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINF1 condition not provided condition_not_provided MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC23B condition not provided condition_not_provided .|MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR condition not provided condition_not_provided .|MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN condition not provided condition_not_provided MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2LI1 condition not provided condition_not_provided MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF4 condition not provided condition_not_provided MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP24A1 condition not provided condition_not_provided MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1S condition not provided condition_not_provided MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGBL5 condition not provided condition_not_provided MedGen:C3661900 31 31 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMPSTE24 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMIZ1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN12 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A9 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF168 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCBTB1 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP3 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PORCN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLK4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1L1 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPG5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B1 condition not provided condition_not_provided .|MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYM condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCHS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL13A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 condition not provided condition_not_provided MedGen:C3661900 30 30 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZC4H2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G condition not provided condition_not_provided MedGen:C3661900 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT condition not provided condition_not_provided MedGen:C3661900 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD3 condition not provided condition_not_provided MedGen:C3661900 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCCB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNX1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6B condition not provided condition_not_provided .|MedGen:C3661900 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXB condition not provided condition_not_provided .|MedGen:C3661900 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASL condition not provided condition_not_provided MedGen:C3661900 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY10 condition not provided condition_not_provided MedGen:C3661900 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 29 29 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOX condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF1 condition not provided condition_not_provided .|MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RERE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGB condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NYX condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYSM1 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B1 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IVD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IHH condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT43 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 condition not provided condition_not_provided .|MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON condition not provided condition_not_provided .|MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP63 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSS1 condition not provided condition_not_provided MedGen:C3661900 28 28 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS33B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAFAZZIN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN4IP1 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 condition not provided condition_not_provided .|MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG2 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PJVK condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFD1 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MILR1 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRBA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAMT condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERMT1 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC9 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTC1 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP4 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C8A condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSND condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATF6 condition not provided condition_not_provided MedGen:C3661900 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH5A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 27 27 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS2 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF3 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC24D condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYROXD1 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP3CA condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX3 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP13 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNHD1 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB2 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM4 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAMP1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD46 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD40LG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAT1 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO6 condition not provided condition_not_provided MedGen:C3661900 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALAS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 26 26 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG condition not provided condition_not_provided MedGen:C3661900 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13D condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A2 condition not provided condition_not_provided .|MedGen:C3661900 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCP2 condition not provided condition_not_provided MedGen:C3661900 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS6 condition not provided condition_not_provided MedGen:C3661900 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 condition not provided condition_not_provided MedGen:C3661900 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMF1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNIP condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLMN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2 condition not provided condition_not_provided MedGen:C3661900 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL condition not provided condition_not_provided MedGen:C3661900 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA2 condition not provided condition_not_provided .|MedGen:C3661900 25 25 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX condition not provided condition_not_provided .|MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM127 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORL1 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM2B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3C2A condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCCA condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRL condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECR condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX3 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIDINS220 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IARS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT1 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 condition not provided condition_not_provided .|MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK8 condition not provided condition_not_provided .|MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND5A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMER1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS10 condition not provided condition_not_provided MedGen:C3661900 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 24 24 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO2A1 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND1 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POP1 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE3B condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK1BP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 condition not provided condition_not_provided .|MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYS condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2R1 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPOX condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ2 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11B condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF18 condition not provided condition_not_provided MedGen:C3661900 23 23 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF462 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2CA condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU1F1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF21A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED23 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT6A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPDH1 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNAR1 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHRHR condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B4 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBT condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNKSR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8A2 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAT1 condition not provided condition_not_provided MedGen:C3661900 22 22 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF341 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX6 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RETREG1 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASGRP1 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH1 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSTM1 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPPL1 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IARS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMOX1 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 condition not provided condition_not_provided .|MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHFR condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APTX condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 condition not provided condition_not_provided MedGen:C3661900 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACBD5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 21 21 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VDR condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 condition not provided condition_not_provided .|MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCD2 condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A19 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A5 condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS19 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMRP condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCG condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGLUT1 condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC1 condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPK condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 condition not provided condition_not_provided .|MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAREM2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAH condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB5R3 condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSPP1 condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8B condition not provided condition_not_provided .|MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPA condition not provided condition_not_provided MedGen:C3661900 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANOS1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 20 20 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF276 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPA Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT1 Osteogenesis imperfecta type 15 mondo_mondo_0014086_medgen_c3808844_omim_615220_orphanet_666 MONDO:MONDO:0014086,MedGen:C3808844,OMIM:615220,Orphanet:666 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC5 Ritscher-Schinzel syndrome mondo_mondo_0019078_medgen_c0796137_omim_ps220210_orphanet_7 MONDO:MONDO:0019078,MedGen:C0796137,OMIM:PS220210,Orphanet:7 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X Intellectual disability, X-linked 99 mondo_mondo_0010487_medgen_c3806746_omim_300919_orphanet_777 MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919,Orphanet:777 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USB1 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR Familial gestational hyperthyroidism mondo_mondo_0011309_medgen_c1863959_omim_603373_orphanet_99819 MONDO:MONDO:0011309,MedGen:C1863959,OMIM:603373,Orphanet:99819 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRRAP Developmental delay with or without dysmorphic facies and autism mondo_mondo_0032760_medgen_c5193106_omim_618454 MONDO:MONDO:0032760,MedGen:C5193106,OMIM:618454 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT1 Intellectual developmental disorder, autosomal recessive 68 mondo_mondo_0032665_medgen_c4749033_omim_618302 MONDO:MONDO:0032665,MedGen:C4749033,OMIM:618302 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOE1 Pontocerebellar hypoplasia type 7 mondo_mondo_0013993_medgen_c3554226_omim_614969_orphanet_284339 MONDO:MONDO:0013993,MedGen:C3554226,OMIM:614969,Orphanet:284339 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNRC6B condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 TMEM67-related disorder tmem67_related_disorder MedGen:CN239423 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECRL Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 DOORS syndrome mondo_mondo_0009079_medgen_c0795934_omim_220500_orphanet_3231_orphanet_79500 MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500,Orphanet:3231,Orphanet:79500 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUZ12 Imagawa-Matsumoto syndrome mondo_mondo_0032916_medgen_c5394073_omim_618786_orphanet_659463 MONDO:MONDO:0032916,MedGen:C5394073,OMIM:618786,Orphanet:659463 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities mondo_mondo_0859202_medgen_c5562012_omim_619595 MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB Elliptocytosis 3 mondo_mondo_0054780_medgen_c1866810_omim_617948 MONDO:MONDO:0054780,MedGen:C1866810,OMIM:617948 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX4 Coffin-Siris syndrome 10 mondo_mondo_0032791_medgen_c4760583_omim_618506 MONDO:MONDO:0032791,MedGen:C4760583,OMIM:618506 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMS Syndromic X-linked intellectual disability Snyder type mondo_mondo_0010664_medgen_c0796160_omim_309583_orphanet_3063 MONDO:MONDO:0010664,MedGen:C0796160,OMIM:309583,Orphanet:3063 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMN1 Kugelberg-Welander disease mondo_mondo_0009672_medgen_c0152109_omim_253400_orphanet_70_orphanet_83419 MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400,Orphanet:70,Orphanet:83419 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLX4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Renal tubular acidosis, distal, 4, with hemolytic anemia mondo_mondo_0012700_medgen_c5436235_omim_611590_orphanet_93610 MONDO:MONDO:0012700,MedGen:C5436235,OMIM:611590,Orphanet:93610 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC46A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 Fanconi renotubular syndrome 2 mondo_mondo_0013247_medgen_c3150652_omim_613388 MONDO:MONDO:0013247,MedGen:C3150652,OMIM:613388 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 Autism, susceptibility to, 17 mondo_mondo_0013265_medgen_c3150693_omim_613436 MONDO:MONDO:0013265,MedGen:C3150693,OMIM:613436 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A SCN5A-related disorder scn5a_related_disorder . 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Developmental and epileptic encephalopathy, 62 mondo_mondo_0033371_medgen_c4693699_omim_617938 MONDO:MONDO:0033371,MedGen:C4693699,OMIM:617938 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMHD1 Chilblain lupus 2 mondo_mondo_0013739_medgen_c3280721_omim_614415 MONDO:MONDO:0013739,MedGen:C3280721,OMIM:614415 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH4A Primary ciliary dyskinesia 11 mondo_mondo_0012978_medgen_c2675229_omim_612649_orphanet_244 MONDO:MONDO:0012978,MedGen:C2675229,OMIM:612649,Orphanet:244 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP6 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive mondo_mondo_0009147_medgen_c3887494_omim_224900_orphanet_238468_orphanet_248 MONDO:MONDO:0009147,MedGen:C3887494,OMIM:224900,Orphanet:238468,Orphanet:248 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF8 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRODH Proline dehydrogenase deficiency mondo_mondo_0009400_medgen_c0268529_omim_239500_orphanet_419 MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1C condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLK Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 Combined oxidative phosphorylation defect type 13 mondo_mondo_0013977_medgen_c4706283_omim_614932_orphanet_319514 MONDO:MONDO:0013977,MedGen:C4706283,OMIM:614932,Orphanet:319514 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema mondo_mondo_0008689_medgen_c4551512_omim_194380_orphanet_3202 MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Hearing loss, autosomal recessive 57 mondo_mondo_0033201_medgen_c4693893_omim_618003 MONDO:MONDO:0033201,MedGen:C4693893,OMIM:618003 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX8 Hypothyroidism, congenital, nongoitrous, 2 mondo_mondo_0024264_medgen_c1869118_omim_218700_orphanet_95712 MONDO:MONDO:0024264,MedGen:C1869118,OMIM:218700,Orphanet:95712 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Anophthalmia-microphthalmia syndrome medgen_c5680330_orphanet_98555 MedGen:C5680330,Orphanet:98555 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSGEP Galloway-Mowat syndrome 3 mondo_mondo_0033007_medgen_c4540266_omim_617729 MONDO:MONDO:0033007,MedGen:C4540266,OMIM:617729 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 OPA1-related disorder opa1_related_disorder . 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy mondo_mondo_0033043_medgen_c4479653_omim_617560_orphanet_527497 MONDO:MONDO:0033043,MedGen:C4479653,OMIM:617560,Orphanet:527497 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS4 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Charcot-Marie-Tooth disease dominant intermediate D mondo_mondo_0011909_medgen_c1843075_omim_607791_orphanet_100046 MONDO:MONDO:0011909,MedGen:C1843075,OMIM:607791,Orphanet:100046 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MN1 CEBALID syndrome mondo_mondo_0032908_medgen_c5394044_omim_618774_orphanet_693549 MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774,Orphanet:693549 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Inherited MMR deficiency (Lynch syndrome) inherited_mmr_deficiency_lynch_syndrome . 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM3AP Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development mondo_mondo_0029131_medgen_c4748283_omim_618124 MONDO:MONDO:0029131,MedGen:C4748283,OMIM:618124 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPA condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Gonadotropin-independent familial sexual precocity mondo_mondo_0008303_medgen_c0342549_omim_176410_orphanet_3000 MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KPTN Macrocephaly-developmental delay syndrome mondo_mondo_0014289_medgen_c3810225_omim_615637_orphanet_397612 MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B Diets-Jongmans syndrome mondo_mondo_0030012_medgen_c5394263_omim_618846 MONDO:MONDO:0030012,MedGen:C5394263,OMIM:618846 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Seizures, benign familial neonatal, 2 mondo_mondo_0007366_medgen_c1852581_omim_121201_orphanet_1949 MONDO:MONDO:0007366,MedGen:C1852581,OMIM:121201,Orphanet:1949 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 Spinocerebellar ataxia type 19/22 mondo_mondo_0011819_medgen_c1846367_omim_607346_orphanet_98772 MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346,Orphanet:98772 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 Gillespie syndrome mondo_mondo_0008795_medgen_c0431401_omim_206700_orphanet_1065 MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700,Orphanet:1065 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITCH Syndromic multisystem autoimmune disease due to ITCH deficiency mondo_mondo_0013245_medgen_c3150649_omim_613385_orphanet_228426 MONDO:MONDO:0013245,MedGen:C3150649,OMIM:613385,Orphanet:228426 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR Leprechaunism syndrome mondo_mondo_0009517_medgen_c0265344_omim_246200_orphanet_508 MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 Autosomal recessive nonsyndromic hearing loss 42 mondo_mondo_0012326_medgen_c1864818_omim_609646_orphanet_90636 MONDO:MONDO:0012326,MedGen:C1864818,OMIM:609646,Orphanet:90636 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYCC1 Hypomyelination and Congenital Cataract mondo_mondo_0012514_medgen_c1864663_omim_610532_orphanet_85163 MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532,Orphanet:85163 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B7 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS6 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A Cone dystrophy 3 mondo_mondo_0011193_medgen_c1865869_omim_602093_orphanet_1872 MONDO:MONDO:0011193,MedGen:C1865869,OMIM:602093,Orphanet:1872 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIP1 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 Syndromic X-linked intellectual disability 94 mondo_mondo_0010402_medgen_c2678051_omim_300699_orphanet_364028 MONDO:MONDO:0010402,MedGen:C2678051,OMIM:300699,Orphanet:364028 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPSM2 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS McCune-Albright syndrome mondo_mondo_0018919_medgen_c0242292_omim_174800_orphanet_562 MONDO:MONDO:0018919,MedGen:C0242292,OMIM:174800,Orphanet:562 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 X-linked mixed hearing loss with perilymphatic gusher mondo_mondo_0010576_medgen_c1844678_omim_304400_orphanet_383 MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN5 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction mondo_mondo_0859152_medgen_c5543427_omim_619333 MONDO:MONDO:0859152,MedGen:C5543427,OMIM:619333 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP2 Childhood apraxia of speech mondo_mondo_0011184_medgen_c0750927_omim_602081_orphanet_209908 MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA FLNA-related disorder flna_related_disorder . 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLAD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 mondo_mondo_0013800_medgen_c3281160_omim_614557_orphanet_300179 MONDO:MONDO:0013800,MedGen:C3281160,OMIM:614557,Orphanet:300179 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 FGFR2-related disorder fgfr2_related_disorder MedGen:CN380096 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF3 Deafness with labyrinthine aplasia, microtia, and microdontia mondo_mondo_0012541_medgen_c1853144_omim_610706_orphanet_90024 MONDO:MONDO:0012541,MedGen:C1853144,OMIM:610706,Orphanet:90024 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCI condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Hereditary factor VIII deficiency disease mondo_mondo_0010602_medgen_c0019069_omim_306700_orphanet_98878 MONDO:MONDO:0010602,MedGen:C0019069,OMIM:306700,Orphanet:98878 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Cockayne syndrome mondo_mondo_0016006_medgen_c0009207_orphanet_191 MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 Inherited obesity mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 Vanishing white matter disease mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive mondo_mondo_0009147_medgen_c3887494_omim_224900_orphanet_238468_orphanet_248 MONDO:MONDO:0009147,MedGen:C3887494,OMIM:224900,Orphanet:238468,Orphanet:248 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECEL1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome mondo_mondo_0013971_medgen_c4706421_omim_614924_orphanet_314051 MONDO:MONDO:0013971,MedGen:C4706421,OMIM:614924,Orphanet:314051 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL1 Autosomal dominant Robinow syndrome 2 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC4 Primary ciliary dyskinesia 33 mondo_mondo_0014750_medgen_c4225230_omim_616726_orphanet_244 MONDO:MONDO:0014750,MedGen:C4225230,OMIM:616726,Orphanet:244 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC2 Primary ciliary dyskinesia 27 mondo_mondo_0014215_medgen_c3809701_omim_615504_orphanet_244 MONDO:MONDO:0014215,MedGen:C3809701,OMIM:615504,Orphanet:244 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRAM2 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH9 DNAH9-related disorder dnah9_related_disorder . 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL4 Adams-Oliver syndrome 6 mondo_mondo_0014703_medgen_c4225271_omim_616589_orphanet_974 MONDO:MONDO:0014703,MedGen:C4225271,OMIM:616589,Orphanet:974 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4F22 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 CYP21A2-related disorder cyp21a2_related_disorder . 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CWF19L1 Autosomal recessive spinocerebellar ataxia 17 mondo_mondo_0014503_medgen_c4015301_omim_616127_orphanet_453521 MONDO:MONDO:0014503,MedGen:C4015301,OMIM:616127,Orphanet:453521 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids 1 mondo_mondo_0800027_medgen_c5561929_omim_221820_orphanet_313808 MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820,Orphanet:313808 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRPPA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Seckel syndrome 4 mondo_mondo_0013358_medgen_c3888212_omim_613676_orphanet_808 MONDO:MONDO:0013358,MedGen:C3888212,OMIM:613676,Orphanet:808 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Ehlers-Danlos syndrome, classic type mondo_mondo_0007522_medgen_c4225429_orphanet_287 MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD63 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3G Combined immunodeficiency due to CD3gamma deficiency mondo_mondo_0014276_medgen_c3810107_omim_615607_orphanet_169082 MONDO:MONDO:0014276,MedGen:C3810107,OMIM:615607,Orphanet:169082 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3E Immunodeficiency 18 mondo_mondo_0014278_medgen_c3810127_omim_615615 MONDO:MONDO:0014278,MedGen:C3810127,OMIM:615615 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR CASR-related disorder casr_related_disorder . 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Thyrotoxic periodic paralysis, susceptibility to, 1 mondo_mondo_0008570_medgen_c2749982_omim_188580_orphanet_79102 MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1E condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2CD3 Orofaciodigital syndrome type 14 mondo_mondo_0014413_medgen_c4706604_omim_615948_orphanet_434179 MONDO:MONDO:0014413,MedGen:C4706604,OMIM:615948,Orphanet:434179 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures mondo_mondo_0014121_medgen_c4747715_omim_615290_orphanet_363447_orphanet_363454 MONDO:MONDO:0014121,MedGen:C4747715,OMIM:615290,Orphanet:363447,Orphanet:363454 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B1 Cholestasis, intrahepatic, of pregnancy, 1 mondo_mondo_0007829_medgen_c3549845_omim_147480_orphanet_69665 MONDO:MONDO:0007829,MedGen:C3549845,OMIM:147480,Orphanet:69665 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATF6 Achromatopsia 7 mondo_mondo_0014677_medgen_c4225297_omim_616517_orphanet_49382 MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517,Orphanet:49382 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL2 Shashi-Pena syndrome mondo_mondo_0014963_medgen_c4310672_omim_617190_orphanet_689408 MONDO:MONDO:0014963,MedGen:C4310672,OMIM:617190,Orphanet:689408 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Familial hypobetalipoproteinemia medgen_c1862596 MedGen:C1862596 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK1 ANK1-related disorder ank1_related_disorder . 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 condition not provided condition_not_provided MedGen:C3661900 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACO2 Infantile cerebellar-retinal degeneration mondo_mondo_0013802_medgen_c3281192_omim_614559_orphanet_313850 MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD12 PHARC syndrome mondo_mondo_0012984_medgen_c2675204_omim_612674_orphanet_171848 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 Sitosterolemia 2 mondo_mondo_0020748_medgen_c5231453_omim_618666 MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666 19 19 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF148 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies mondo_mondo_0014994_medgen_c4310644_omim_617260 MONDO:MONDO:0014994,MedGen:C4310644,OMIM:617260 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC4 Short stature, microcephaly, and endocrine dysfunction mondo_mondo_0014686_medgen_c4225288_omim_616541_orphanet_436182 MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPNPEP3 Nephronophthisis-like nephropathy 1 mondo_mondo_0013163_medgen_c3150419_omim_613159_orphanet_655 MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Pheochromocytoma human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence USB1 Poikiloderma with neutropenia mondo_mondo_0011405_medgen_c1858723_omim_604173_orphanet_221046 MONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173,Orphanet:221046 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYRP1 MELANESIAN BLOND HAIR medgen_c2677086_omim_612271 MedGen:C2677086,OMIM:612271 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN12 Exudative vitreoretinopathy 5 mondo_mondo_0013218_medgen_c2750079_omim_613310_orphanet_891 MONDO:MONDO:0013218,MedGen:C2750079,OMIM:613310,Orphanet:891 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM6 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3IP2 Candidiasis, familial, 8 mondo_mondo_0014230_medgen_c3714992_omim_615527_orphanet_1334 MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPRN condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Squamous cell carcinoma of the head and neck mondo_mondo_0010150_mesh_d000077195_medgen_c1168401_omim_275355_orphanet_67037 MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Adrenal cortex carcinoma human_phenotype_ontology_hp_0002889_human_phenotype_ontology_hp_0006744_human_phenotype_ontology_hp_0006759_mondo_mondo_0006639_mesh_d018268_medgen_c0206686_orphanet_1501 Human_Phenotype_Ontology:HP:0002889,Human_Phenotype_Ontology:HP:0006744,Human_Phenotype_Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS6 Iron-refractory iron deficiency anemia mondo_mondo_0008788_medgen_c0085576_omim_206200_orphanet_209981 MONDO:MONDO:0008788,MedGen:C0085576,OMIM:206200,Orphanet:209981 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TELO2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome mondo_mondo_0018820_medgen_c5567524_omim_616878_orphanet_480864 MONDO:MONDO:0018820,MedGen:C5567524,OMIM:616878,Orphanet:480864 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE4 Autosomal recessive nonsyndromic hearing loss 76 mondo_mondo_0014237_medgen_c3147083_omim_615540_orphanet_90636 MONDO:MONDO:0014237,MedGen:C3147083,OMIM:615540,Orphanet:90636 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT3 STAT3-related early-onset multisystem autoimmune disease mondo_mondo_0014414_medgen_c4014795_omim_615952_orphanet_438159 MONDO:MONDO:0014414,MedGen:C4014795,OMIM:615952,Orphanet:438159 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN2 Spinocerebellar ataxia type 5 mondo_mondo_0010848_medgen_c0752123_omim_600224_orphanet_98766 MONDO:MONDO:0010848,MedGen:C0752123,OMIM:600224,Orphanet:98766 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP140 Hepatic veno-occlusive disease-immunodeficiency syndrome mondo_mondo_0009338_medgen_c1856128_omim_235550_orphanet_79124 MONDO:MONDO:0009338,MedGen:C1856128,OMIM:235550,Orphanet:79124 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX6 Tolchin-Le Caignec syndrome mondo_mondo_0033544_medgen_c5436509_omim_618971 MONDO:MONDO:0033544,MedGen:C5436509,OMIM:618971 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP29 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Aortic valve disease 2 mondo_mondo_0013902_medgen_c3542024_omim_614823 MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A1 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A12 Dalmatian hypouricemia mondo_mondo_0020728_medgen_c0473219_omim_220150 MONDO:MONDO:0020728,MedGen:C0473219,OMIM:220150 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 Branchiootic syndrome 3 mondo_mondo_0012025_medgen_c1842124_omim_608389 MONDO:MONDO:0012025,MedGen:C1842124,OMIM:608389 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCG condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Carney-Stratakis syndrome mondo_mondo_0011740_medgen_c1847319_omim_606864_orphanet_97286 MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Generalized epilepsy with febrile seizures plus, type 1 mondo_mondo_0011416_medgen_c1858672_omim_604233_orphanet_36387 MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Fliedner-Zweier syndrome mondo_mondo_0957787_medgen_c5882693_omim_620511 MONDO:MONDO:0957787,MedGen:C5882693,OMIM:620511 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9 MIRAGE syndrome mondo_mondo_0014888_medgen_c4284088_omim_617053_orphanet_494433 MONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053,Orphanet:494433 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF14 Diencephalic-mesencephalic junction dysplasia syndrome 1 mondo_mondo_0009625_medgen_c4538630_omim_251280 MONDO:MONDO:0009625,MedGen:C4538630,OMIM:251280 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXAP MHC class II deficiency mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Deafness, X-linked 5 medgen_c1845095_omim_300614_orphanet_139583 MedGen:C1845095,OMIM:300614,Orphanet:139583 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP Parkinson disease 24, autosomal dominant, susceptibility to mondo_mondo_0859183_medgen_c5561969_omim_619491 MONDO:MONDO:0859183,MedGen:C5561969,OMIM:619491 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP Gaucher disease due to saposin C deficiency mondo_mondo_0012517_medgen_c1864651_omim_610539_orphanet_309252_orphanet_355 MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539,Orphanet:309252,Orphanet:355 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Reduced protein C activity human_phenotype_ontology_hp_0005543_mesh_d020151_medgen_c0398625 Human_Phenotype_Ontology:HP:0005543,MeSH:D020151,MedGen:C0398625 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCSH condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCD Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD mondo_mondo_8000024_medgen_c3809928_omim_615559_orphanet_3261_orphanet_664711 MONDO:MONDO:8000024,MedGen:C3809928,OMIM:615559,Orphanet:3261,Orphanet:664711 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Variegate porphyria mondo_mondo_0008297_medgen_c0162532_omim_176200_orphanet_79473 MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Colorectal cancer, susceptibility to, 12 mondo_mondo_0014038_medgen_c3554460_omim_615083_orphanet_220460 MONDO:MONDO:0014038,MedGen:C3554460,OMIM:615083,Orphanet:220460 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1A Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome mondo_mondo_0013894_medgen_c3542022_omim_614813_orphanet_314394 MONDO:MONDO:0013894,MedGen:C3542022,OMIM:614813,Orphanet:314394 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA8 Mitochondrial myopathy-lactic acidosis-deafness syndrome mondo_mondo_0016825_medgen_c1855033_omim_251950_orphanet_2597 MONDO:MONDO:0016825,MedGen:C1855033,OMIM:251950,Orphanet:2597 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Ataxia-hypogonadism-choroidal dystrophy syndrome mondo_mondo_0008980_medgen_c1859093_omim_215470_orphanet_1180 MONDO:MONDO:0008980,MedGen:C1859093,OMIM:215470,Orphanet:1180 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Microcephaly, seizures, and developmental delay mondo_mondo_0013254_medgen_c3150667_omim_613402_orphanet_1934 MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 PMM2-related disorder pmm2_related_disorder . 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLPBP condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA PIK3CA-related disorder pik3ca_related_disorder . 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGO condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF6 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX12 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH12 Diencephalic-mesencephalic junction dysplasia syndrome 1 mondo_mondo_0009625_medgen_c4538630_omim_251280 MONDO:MONDO:0009625,MedGen:C4538630,OMIM:251280 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBX1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSGEP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPTN condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Joubert syndrome 10 mondo_mondo_0010431_medgen_c2749019_omim_300804_orphanet_2754 MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Myofibromatosis, infantile, 2 mondo_mondo_0014122_medgen_c3809084_omim_615293_orphanet_2591 MONDO:MONDO:0014122,MedGen:C3809084,OMIM:615293,Orphanet:2591 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NNT Glucocorticoid deficiency 4 mondo_mondo_0013874_medgen_c3553587_omim_614736_orphanet_361 MONDO:MONDO:0013874,MedGen:C3553587,OMIM:614736,Orphanet:361 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 MYH3-related disorder myh3_related_disorder MedGen:CN239329 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH14 condition not provided condition_not_provided .|MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYEF2 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Methylmalonic aciduria, cblB type mondo_mondo_0009614_medgen_c1855102_omim_251110_orphanet_28_orphanet_79311 MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 MSH2-related disorder msh2_related_disorder . 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNX1 Currarino triad mondo_mondo_0008305_medgen_c1531773_omim_176450_orphanet_1552 MONDO:MONDO:0008305,MedGen:C1531773,OMIM:176450,Orphanet:1552 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R MC4R-related disorder mc4r_related_disorder . 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK1 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Bone mineral density quantitative trait locus 1 medgen_c1866079_omim_601884 MedGen:C1866079,OMIM:601884 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Mandibuloacral dysplasia with type A lipodystrophy mondo_mondo_0009557_medgen_c5399785_omim_248370_orphanet_2457_orphanet_90153 MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370,Orphanet:2457,Orphanet:90153 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Charcot-Marie-Tooth disease type 2B1 mondo_mondo_0011569_medgen_c1854154_omim_605588_orphanet_98856 MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588,Orphanet:98856 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ5 Intellectual disability, autosomal dominant 46 mondo_mondo_0030911_medgen_c4539851_omim_617601 MONDO:MONDO:0030911,MedGen:C4539851,OMIM:617601 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB2 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IPO8 VISS syndrome mondo_mondo_0859177_medgen_c5561955_omim_619472 MONDO:MONDO:0859177,MedGen:C5561955,OMIM:619472 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGSF1 X-linked central congenital hypothyroidism with late-onset testicular enlargement mondo_mondo_0010475_medgen_c3550963_omim_300888_orphanet_329235 MONDO:MONDO:0010475,MedGen:C3550963,OMIM:300888,Orphanet:329235 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 Immunodeficiency 27A mondo_mondo_0008856_medgen_c4011949_omim_209950_orphanet_319569_orphanet_99898 MONDO:MONDO:0008856,MedGen:C4011949,OMIM:209950,Orphanet:319569,Orphanet:99898 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH3B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPGD condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHB Mitochondrial trifunctional protein deficiency 2 mondo_mondo_0958185_medgen_c5830374_omim_620300 MONDO:MONDO:0958185,MedGen:C5830374,OMIM:620300 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT2 Achromatopsia 4 mondo_mondo_0013465_medgen_c1841721_omim_613856_orphanet_49382 MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA GAA-related disorder gaa_related_disorder . 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXN1 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant mondo_mondo_0032928_medgen_c5394133_omim_618806_orphanet_676039 MONDO:MONDO:0032928,MedGen:C5394133,OMIM:618806,Orphanet:676039 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FNIP1 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM161A Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Otofaciocervical syndrome 1 mondo_mondo_0024532_medgen_c3714941_omim_166780 MONDO:MONDO:0024532,MedGen:C3714941,OMIM:166780 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Lambdoidal craniosynostosis human_phenotype_ontology_hp_0004443_human_phenotype_ontology_hp_0004486_medgen_c1833340 Human_Phenotype_Ontology:HP:0004443,Human_Phenotype_Ontology:HP:0004486,MedGen:C1833340 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC3 Trichothiodystrophy 2, photosensitive mondo_mondo_0014615_medgen_c4225344_omim_616390_orphanet_33364 MONDO:MONDO:0014615,MedGen:C4225344,OMIM:616390,Orphanet:33364 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB41 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA Tooth agenesis, selective, X-linked, 1 mondo_mondo_0010741_medgen_c1970757_omim_313500_orphanet_99798 MONDO:MONDO:0010741,MedGen:C1970757,OMIM:313500,Orphanet:99798 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYD condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK7 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC21 Bone marrow failure syndrome 3 mondo_mondo_0014887_medgen_c4310744_omim_617052 MONDO:MONDO:0014887,MedGen:C4310744,OMIM:617052 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC2 Autosomal recessive nonsyndromic hearing loss 66 mondo_mondo_0012442_medgen_c1857750_omim_610212_orphanet_90636 MONDO:MONDO:0012442,MedGen:C1857750,OMIM:610212,Orphanet:90636 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 Congenital adrenal hyperplasia human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete mondo_mondo_0800379_medgen_cn042980 MONDO:MONDO:0800379,MedGen:CN042980 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Pseudohypoaldosteronism type 2E mondo_mondo_0013782_medgen_c3469606_omim_614496_orphanet_300530_orphanet_757 MONDO:MONDO:0013782,MedGen:C3469606,OMIM:614496,Orphanet:300530,Orphanet:757 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CP Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG1 COG1 congenital disorder of glycosylation mondo_mondo_0012637_medgen_c2931011_omim_611209_orphanet_263508 MONDO:MONDO:0012637,MedGen:C2931011,OMIM:611209,Orphanet:263508 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 Parenti-mignot neurodevelopmental syndrome mondo_mondo_0859249_medgen_c5676984_omim_619873 MONDO:MONDO:0859249,MedGen:C5676984,OMIM:619873 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP92 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP92 Acyl-CoA dehydrogenase 9 deficiency mondo_mondo_0012624_medgen_c4747517_omim_611126_orphanet_99901 MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEBPA condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Intellectual disability, autosomal recessive 3 mondo_mondo_0012037_medgen_c1838023_omim_608443_orphanet_88616 MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK FG syndrome 4 mondo_mondo_0010318_medgen_c1845546_omim_300422 MONDO:MONDO:0010318,MedGen:C1845546,OMIM:300422 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2A Intellectual disability, autosomal dominant 53 mondo_mondo_0030919_medgen_c4540481_omim_617798 MONDO:MONDO:0030919,MedGen:C4540481,OMIM:617798 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAD Developmental and epileptic encephalopathy, 50 mondo_mondo_0014647_medgen_c4225320_omim_616457_orphanet_448010 MONDO:MONDO:0014647,MedGen:C4225320,OMIM:616457,Orphanet:448010 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1R Ehlers-Danlos syndrome, periodontal type 1 mondo_mondo_0020684_medgen_c4551499_omim_130080_orphanet_75392 MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080,Orphanet:75392 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1A Generalized juvenile polyposis/juvenile polyposis coli mondo_mondo_0008276_medgen_c1868081_orphanet_329971 MONDO:MONDO:0008276,MedGen:C1868081,Orphanet:329971 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Autosomal dominant vitreoretinochoroidopathy mondo_mondo_0008662_medgen_c3888099_omim_193220_orphanet_263347_orphanet_3086 MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATR Seckel syndrome 1 mondo_mondo_0008869_medgen_c4551474_omim_210600_orphanet_808 MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSL X-linked chondrodysplasia punctata 1 mondo_mondo_0010555_medgen_c3669395_omim_302950_orphanet_79345 MONDO:MONDO:0010555,MedGen:C3669395,OMIM:302950,Orphanet:79345 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S2 Pettigrew syndrome mondo_mondo_0010574_medgen_c0796254_omim_304340_orphanet_1568_orphanet_85329_orphanet_85335 MONDO:MONDO:0010574,MedGen:C0796254,OMIM:304340,Orphanet:1568,Orphanet:85329,Orphanet:85335 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMT condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMHR2 condition not provided condition_not_provided MedGen:C3661900 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Deafness, X-linked 5 medgen_c1845095_omim_300614_orphanet_139583 MedGen:C1845095,OMIM:300614,Orphanet:139583 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase mondo_mondo_0013404_medgen_c3151058_omim_613752_orphanet_88618 MONDO:MONDO:0013404,MedGen:C3151058,OMIM:613752,Orphanet:88618 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Congenital myopathy 2c, severe infantile, autosomal dominant mondo_mondo_0859523_medgen_c5830333_omim_620278 MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 ABCC8-related disorder abcc8_related_disorder . 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Progressive familial intrahepatic cholestasis mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 18 18 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10B Split hand-foot malformation 6 mondo_mondo_0009157_medgen_c2749665_omim_225300_orphanet_2440 MONDO:MONDO:0009157,MedGen:C2749665,OMIM:225300,Orphanet:2440 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 mondo_mondo_0012430_medgen_c2750234_omim_610185_orphanet_1766 MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR26 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDPCP Heart defect - tongue hamartoma - polysyndactyly syndrome mondo_mondo_0009008_medgen_c1857587_omim_217085_orphanet_1338 MONDO:MONDO:0009008,MedGen:C1857587,OMIM:217085,Orphanet:1338 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 UGT1A1-related disorder ugt1a1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA2 ACCES syndrome mondo_mondo_0859262_medgen_c5677019_omim_619959 MONDO:MONDO:0859262,MedGen:C5677019,OMIM:619959 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2A Complex cortical dysplasia with other brain malformations 5 mondo_mondo_0014337_medgen_c3810407_omim_615763 MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB Complex cortical dysplasia with other brain malformations 6 mondo_mondo_0014341_medgen_c4014283_omim_615771 MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Pontocerebellar hypoplasia type 4 mondo_mondo_0009166_medgen_c1856974_omim_225753_orphanet_166063 MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2L Mucopolysaccharidosis, MPS-IV-A mondo_mondo_0009659_medgen_c0086651_omim_253000_orphanet_309297_orphanet_582 MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2 Spondyloepiphyseal dysplasia tarda mondo_mondo_0019667_medgen_cn033239_orphanet_93284 MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC12 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome mondo_mondo_0044696_medgen_c5567229_omim_617669_orphanet_500144 MONDO:MONDO:0044696,MedGen:C5567229,OMIM:617669,Orphanet:500144 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF11A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM138 Joubert syndrome 16 mondo_mondo_0013764_medgen_c3280906_omim_614465_orphanet_2318 MONDO:MONDO:0013764,MedGen:C3280906,OMIM:614465,Orphanet:2318 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC2 X-linked intellectual disability-short stature-overweight syndrome mondo_mondo_0010496_medgen_c0796218_omim_300957_orphanet_457240 MONDO:MONDO:0010496,MedGen:C0796218,OMIM:300957,Orphanet:457240 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB3 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX15 Spermatogenic failure 25 mondo_mondo_0054729_medgen_c4693765_omim_617960 MONDO:MONDO:0054729,MedGen:C4693765,OMIM:617960 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXAS1 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Developmental and epileptic encephalopathy, 16 mondo_mondo_0014133_medgen_c3809173_omim_615338_orphanet_293181_orphanet_352596 MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338,Orphanet:293181,Orphanet:352596 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT1 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome mondo_mondo_0033864_medgen_c4748715_omim_618218_orphanet_522077 MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK4 Combined immunodeficiency due to STK4 deficiency mondo_mondo_0013934_medgen_c3553943_omim_614868_orphanet_314689 MONDO:MONDO:0013934,MedGen:C3553943,OMIM:614868,Orphanet:314689 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAMBP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Elliptocytosis 2 mondo_mondo_0007533_medgen_c1851741_omim_130600_orphanet_288 MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 SOD1-related disorder sod1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX10 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Generalized juvenile polyposis/juvenile polyposis coli mondo_mondo_0008276_medgen_c1868081_orphanet_329971 MONDO:MONDO:0008276,MedGen:C1868081,Orphanet:329971 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 BLOOD GROUP--DIEGO SYSTEM medgen_c1292286_omim_110500 MedGen:C1292286,OMIM:110500 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 Mucopolysaccharidosis, MPS-I-H/S mondo_mondo_0011759_medgen_c0086431_omim_607015_orphanet_93476 MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015,Orphanet:93476 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A4 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A4 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome mondo_mondo_0014725_medgen_c4225254_omim_616657_orphanet_447997 MONDO:MONDO:0014725,MedGen:C4225254,OMIM:616657,Orphanet:447997 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX3 Holoprosencephaly 2 mondo_mondo_0007999_medgen_c1834877_omim_157170_orphanet_2162 MONDO:MONDO:0007999,MedGen:C1834877,OMIM:157170,Orphanet:2162 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERAC1 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC24D Cole-Carpenter syndrome 2 mondo_mondo_0014573_medgen_c4225382_omim_616294_orphanet_2050 MONDO:MONDO:0014573,MedGen:C4225382,OMIM:616294,Orphanet:2050 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB SDHB-related disorder sdhb_related_disorder MedGen:CN239418 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1B Bronchiectasis with or without elevated sweat chloride 1 mondo_mondo_0008887_medgen_c2749757_omim_211400_orphanet_60033 MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB1 Developmental delay with dysmorphic facies and dental anomalies mondo_mondo_0030988_medgen_c5543197_omim_619228 MONDO:MONDO:0030988,MedGen:C5543197,OMIM:619228 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMHD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 condition not provided condition_not_provided .|MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Hypotrichosis 8 mondo_mondo_0010206_medgen_c3279470_omim_278150_orphanet_55654 MONDO:MONDO:0010206,MedGen:C3279470,OMIM:278150,Orphanet:55654 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARB Microphthalmia, syndromic 12 mondo_mondo_0014229_medgen_c3809803_omim_615524_orphanet_2470_orphanet_689829 MONDO:MONDO:0014229,MedGen:C3809803,OMIM:615524,Orphanet:2470,Orphanet:689829 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Prostate cancer, hereditary, 1 mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Holoprosencephaly 7 mondo_mondo_0012562_medgen_c1835820_omim_610828_orphanet_2162 MONDO:MONDO:0012562,MedGen:C1835820,OMIM:610828,Orphanet:2162 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRUNE1 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies mondo_mondo_0060490_medgen_c4479566_omim_617481_orphanet_544469 MONDO:MONDO:0060490,MedGen:C4479566,OMIM:617481,Orphanet:544469 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT9 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R21 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities mondo_mondo_0859165_medgen_c5543591_omim_619383 MONDO:MONDO:0859165,MedGen:C5543591,OMIM:619383 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNLIP condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Inherited MMR deficiency (Lynch syndrome) inherited_mmr_deficiency_lynch_syndrome . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Charcot-Marie-Tooth disease, type IA mondo_mondo_0007309_medgen_c0270911_omim_118220_orphanet_101081 MONDO:MONDO:0007309,MedGen:C0270911,OMIM:118220,Orphanet:101081 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD1 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCE1 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA CLOVES syndrome mondo_mondo_0013038_medgen_c2752042_omim_612918_orphanet_140944 MONDO:MONDO:0013038,MedGen:C2752042,OMIM:612918,Orphanet:140944 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome mondo_mondo_0007158_medgen_c1862472_omim_108145_orphanet_1154 MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145,Orphanet:1154 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 PEX1-related disorder pex1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHX condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE3B Vitamin D hydroxylation-deficient rickets, type 1B mondo_mondo_0010810_medgen_c1838657_omim_600081_orphanet_289157 MONDO:MONDO:0010810,MedGen:C1838657,OMIM:600081,Orphanet:289157 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCBD1 Pterin-4 alpha-carbinolamine dehydratase 1 deficiency mondo_mondo_0009908_medgen_c1849700_omim_264070_orphanet_1578_orphanet_238583 MONDO:MONDO:0009908,MedGen:C1849700,OMIM:264070,Orphanet:1578,Orphanet:238583 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK3 Intellectual disability, X-linked 30 mondo_mondo_0010361_medgen_c0796237_omim_300558_orphanet_777 MONDO:MONDO:0010361,MedGen:C0796237,OMIM:300558,Orphanet:777 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC4 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C2 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 Congenital heart defects, multiple types, 4 mondo_mondo_0014344_medgen_c4014310_omim_615779 MONDO:MONDO:0014344,MedGen:C4014310,OMIM:615779 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHLRC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIB condition not provided condition_not_provided .|MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Neurofibroma human_phenotype_ontology_hp_0001067_human_phenotype_ontology_hp_0006746_human_phenotype_ontology_hp_0007386_human_phenotype_ontology_hp_0007612_mondo_mondo_0016755_mesh_d009455_medgen_c0027830_orphanet_252183 Human_Phenotype_Ontology:HP:0001067,Human_Phenotype_Ontology:HP:0006746,Human_Phenotype_Ontology:HP:0007386,Human_Phenotype_Ontology:HP:0007612,MONDO:MONDO:0016755,MeSH:D009455,MedGen:C0027830,Orphanet:252183 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A MYO15A-related disorder myo15a_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Thrombophilia due to thrombin defect mondo_mondo_0008559_medgen_c3160733_omim_188050 MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP21 Heterotaxy, visceral, 7, autosomal mondo_mondo_0014762_medgen_c4225217_omim_616749_orphanet_450 MONDO:MONDO:0014762,MedGen:C4225217,OMIM:616749,Orphanet:450 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAA condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFRP condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L Nizon-Isidor syndrome mondo_mondo_0030030_medgen_c5394350_omim_618872 MONDO:MONDO:0030030,MedGen:C5394350,OMIM:618872 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Blepharophimosis - intellectual disability syndrome, MKB type mondo_mondo_0010477_medgen_c3698541_omim_300895_orphanet_293707 MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895,Orphanet:293707 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBOAT7 Intellectual disability, autosomal recessive 57 mondo_mondo_0014962_medgen_c4310673_omim_617188 MONDO:MONDO:0014962,MedGen:C4310673,OMIM:617188 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD4 Tumor predisposition syndrome 2 mondo_mondo_0859267_medgen_c5774186_omim_619975_orphanet_661526 MONDO:MONDO:0859267,MedGen:C5774186,OMIM:619975,Orphanet:661526 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MACF1 Lissencephaly 9 with complex brainstem malformation mondo_mondo_0032677_medgen_c5193029_omim_618325_orphanet_572013 MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSS condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSS Alopecia-intellectual disability syndrome 4 mondo_mondo_0030009_medgen_c5394241_omim_618840 MONDO:MONDO:0030009,MedGen:C5394241,OMIM:618840 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPAR6 Hypotrichosis 8 mondo_mondo_0010206_medgen_c3279470_omim_278150_orphanet_55654 MONDO:MONDO:0010206,MedGen:C3279470,OMIM:278150,Orphanet:55654 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Emery-Dreifuss muscular dystrophy 3, autosomal recessive mondo_mondo_0014676_medgen_c2750035_omim_616516_orphanet_261_orphanet_98855 MONDO:MONDO:0014676,MedGen:C2750035,OMIM:616516,Orphanet:261,Orphanet:98855 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG4 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEPR LEPR-related disorder lepr_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCK Severe combined immunodeficiency due to LCK deficiency mondo_mondo_0014334_medgen_c4014233_omim_615758_orphanet_280142 MONDO:MONDO:0014334,MedGen:C4014233,OMIM:615758,Orphanet:280142 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCAT Fish-eye disease mondo_mondo_0007620_medgen_c0342895_omim_136120_orphanet_650_orphanet_79292 MONDO:MONDO:0007620,MedGen:C0342895,OMIM:136120,Orphanet:650,Orphanet:79292 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC3 Occipital pachygyria and polymicrogyria mondo_mondo_0013583_medgen_c3279875_omim_614115_orphanet_280640 MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB2 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRTCAP3 Retinitis pigmentosa 71 mondo_mondo_0014618_medgen_c4225342_omim_616394_orphanet_791 MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT17 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT16 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 PERCHING syndrome mondo_mondo_0014890_medgen_c4310742_omim_617055_orphanet_157820_orphanet_603684 MONDO:MONDO:0014890,MedGen:C4310742,OMIM:617055,Orphanet:157820,Orphanet:603684 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL3 Pseudohypoaldosteronism type 2D mondo_mondo_0013781_medgen_c3469605_omim_614495_orphanet_300525_orphanet_757 MONDO:MONDO:0013781,MedGen:C3469605,OMIM:614495,Orphanet:300525,Orphanet:757 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Piebaldism human_phenotype_ontology_hp_0007544_mondo_mondo_0008244_medgen_c0080024_omim_172800_orphanet_2884 Human_Phenotype_Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080024,OMIM:172800,Orphanet:2884 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIRREL2 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIDINS220 Spastic paraplegia, intellectual disability, nystagmus, and obesity mondo_mondo_0015007_medgen_c4284592_omim_617296_orphanet_521390 MONDO:MONDO:0015007,MedGen:C4284592,OMIM:617296,Orphanet:521390 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNIP Joubert syndrome 26 mondo_mondo_0014771_medgen_c4084843_omim_616784_orphanet_475 MONDO:MONDO:0014771,MedGen:C4084843,OMIM:616784,Orphanet:475 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITK Lymphoproliferative syndrome 1 mondo_mondo_0013081_medgen_c3552634_omim_613011_orphanet_238505_orphanet_538963 MONDO:MONDO:0013081,MedGen:C3552634,OMIM:613011,Orphanet:238505,Orphanet:538963 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL12B Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency mondo_mondo_0013954_medgen_c4013948_omim_614890_orphanet_319558 MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH3A condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSF4 Cataract 5 multiple types human_phenotype_ontology_hp_0007971_mondo_mondo_0007290_medgen_c0266537_omim_116800_orphanet_91492 Human_Phenotype_Ontology:HP:0007971,MONDO:MONDO:0007290,MedGen:C0266537,OMIM:116800,Orphanet:91492 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 mondo_mondo_0024546_medgen_c4551679_omim_259100_orphanet_1525_orphanet_2796 MONDO:MONDO:0024546,MedGen:C4551679,OMIM:259100,Orphanet:1525,Orphanet:2796 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE Hemochromatosis type 1 mondo_mondo_0021001_medgen_c3469186_omim_235200_orphanet_465508 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHB Mitochondrial trifunctional protein deficiency 1 mondo_mondo_0958181_medgen_cn376812_omim_609015 MONDO:MONDO:0958181,MedGen:CN376812,OMIM:609015 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPIHBP1 Hyperlipoproteinemia, type 1D mondo_mondo_0014412_medgen_c4014767_omim_615947_orphanet_444490_orphanet_535458 MONDO:MONDO:0014412,MedGen:C4014767,OMIM:615947,Orphanet:444490,Orphanet:535458 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT1 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI1 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities mondo_mondo_0859243_medgen_c5676975_omim_619854 MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIPC3 Autosomal recessive nonsyndromic hearing loss 15 mondo_mondo_0011160_medgen_c1866094_omim_601869_orphanet_90636 MONDO:MONDO:0011160,MedGen:C1866094,OMIM:601869,Orphanet:90636 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE3 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Posterior column ataxia-retinitis pigmentosa syndrome mondo_mondo_0012177_medgen_c1836916_omim_609033_orphanet_88628 MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT4 Congenital heart defects, multiple types, 7 mondo_mondo_0032913_medgen_c5394062_omim_618780 MONDO:MONDO:0032913,MedGen:C5394062,OMIM:618780 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Cardiac valvular dysplasia, X-linked mondo_mondo_0010753_medgen_c0262436_omim_314400_orphanet_1864_orphanet_555877_orphanet_75497 MONDO:MONDO:0010753,MedGen:C0262436,OMIM:314400,Orphanet:1864,Orphanet:555877,Orphanet:75497 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Yunis-Varon syndrome mondo_mondo_0008995_medgen_c1857663_omim_216340_orphanet_3472 MONDO:MONDO:0008995,MedGen:C1857663,OMIM:216340,Orphanet:3472 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Camptodactyly-tall stature-scoliosis-hearing loss syndrome mondo_mondo_0012504_medgen_c1864852_omim_610474_orphanet_85164 MONDO:MONDO:0012504,MedGen:C1864852,OMIM:610474,Orphanet:85164 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Jackson-Weiss syndrome mondo_mondo_0007400_medgen_c0795998_omim_123150_orphanet_1540 MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphanet:1540 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Acrocephalosyndactyly type I mondo_mondo_0007041_medgen_c0001193_omim_101200_orphanet_87 MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200,Orphanet:87 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC FANCC-related disorder fancc_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F7 F7-related disorder f7_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 EXT1-related disorder ext1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 XFE progeroid syndrome mondo_mondo_0012590_medgen_c1970416_omim_610965 MONDO:MONDO:0012590,MedGen:C1970416,OMIM:610965 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPS8L2 Hearing loss, autosomal recessive 106 mondo_mondo_0033198_medgen_c4539954_omim_617637 MONDO:MONDO:0033198,MedGen:C4539954,OMIM:617637 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPM2A condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPM2A Myoclonic epilepsy of Lafora 1 mondo_mondo_0958199_medgen_cn377204_omim_254780 MONDO:MONDO:0958199,MedGen:CN377204,OMIM:254780 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTPD5 Familial steroid-resistant nephrotic syndrome with sensorineural deafness mondo_mondo_0013836_medgen_c3553349_omim_614650_orphanet_280406 MONDO:MONDO:0013836,MedGen:C3553349,OMIM:614650,Orphanet:280406 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRP2 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 Polycystic kidney disease 6 with or without polycystic liver disease mondo_mondo_0054842_medgen_c4748044_omim_618061 MONDO:MONDO:0054842,MedGen:C4748044,OMIM:618061 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 DNAH11-related disorder dnah11_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC2 Nephronophthisis 19 mondo_mondo_0014537_medgen_c4015542_omim_616217_orphanet_84081 MONDO:MONDO:0014537,MedGen:C4015542,OMIM:616217,Orphanet:84081 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 Congenital bile acid synthesis defect 3 mondo_mondo_0013439_medgen_c3151147_omim_613812_orphanet_79302 MONDO:MONDO:0013439,MedGen:C3151147,OMIM:613812,Orphanet:79302 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2R1 Vitamin D hydroxylation-deficient rickets, type 1B mondo_mondo_0010810_medgen_c1838657_omim_600081_orphanet_289157 MONDO:MONDO:0010810,MedGen:C1838657,OMIM:600081,Orphanet:289157 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B2 CYP11B2-related disorder cyp11b2_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYFIP2 Developmental and epileptic encephalopathy, 65 mondo_mondo_0033374_medgen_c4693925_omim_618008 MONDO:MONDO:0033374,MedGen:C4693925,OMIM:618008 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CXCR4 Warts, hypogammaglobulinemia, infections, and myelokathexis mondo_mondo_0023880_medgen_c0472817_omim_ps193670 MONDO:MONDO:0023880,MedGen:C0472817,OMIM:PS193670 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CWC27 Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome mondo_mondo_0009598_medgen_c1855188_omim_250410_orphanet_166035 MONDO:MONDO:0009598,MedGen:C1855188,OMIM:250410,Orphanet:166035 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREB3L3 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 CPLANE1-related disorder cplane1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ9 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Hematuria human_phenotype_ontology_hp_0000790_medgen_c0018965 Human_Phenotype_Ontology:HP:0000790,MedGen:C0018965 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Hearing loss, autosomal dominant 37 mondo_mondo_0032802_medgen_c4760307_omim_618533 MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH Autosomal dominant nonsyndromic hearing loss 9 mondo_mondo_0011058_medgen_c1832425_omim_601369_orphanet_90635 MONDO:MONDO:0011058,MedGen:C1832425,OMIM:601369,Orphanet:90635 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN7 Autosomal dominant osteopetrosis 2 mondo_mondo_0008156_medgen_c3179239_omim_166600_orphanet_53 MONDO:MONDO:0008156,MedGen:C3179239,OMIM:166600,Orphanet:53 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN2 Familial hyperaldosteronism type II mondo_mondo_0011576_medgen_c1854107_omim_605635_orphanet_404 MONDO:MONDO:0011576,MedGen:C1854107,OMIM:605635,Orphanet:404 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 CLCN1-related disorder clcn1_related_disorder . 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP57 Mosaic variegated aneuploidy syndrome 2 mondo_mondo_0013582_medgen_c3279843_omim_614114_orphanet_1052 MONDO:MONDO:0013582,MedGen:C3279843,OMIM:614114,Orphanet:1052 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 Intellectual developmental disorder, autosomal recessive 77 mondo_mondo_0031031_medgen_c5774193_omim_619988 MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDT1 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Melanoma, cutaneous malignant, susceptibility to, 2 mondo_mondo_0007964_medgen_c1835044_omim_155601_orphanet_618 MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601,Orphanet:618 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Cone-rod dystrophy 15 mondo_mondo_0013348_medgen_c3150912_omim_613660 MONDO:MONDO:0013348,MedGen:C3150912,OMIM:613660 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 condition not provided condition_not_provided .|MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD55 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARMIL2 Severe combined immunodeficiency due to CARMIL2 deficiency mondo_mondo_0029134_medgen_c4748304_omim_618131_orphanet_542301 MONDO:MONDO:0029134,MedGen:C4748304,OMIM:618131,Orphanet:542301 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1E Developmental and epileptic encephalopathy, 69 mondo_mondo_0032657_medgen_c4748988_omim_618285 MONDO:MONDO:0032657,MedGen:C4748988,OMIM:618285 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA2 Osteopetrosis with renal tubular acidosis mondo_mondo_0009818_medgen_c0345407_omim_259730_orphanet_2785 MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730,Orphanet:2785 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QTNF5 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTK Autosomal recessive agammaglobulinemia 1 mondo_mondo_0020729_medgen_c3152144_omim_601495 MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRPF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP2 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity mondo_mondo_0019675_medgen_c0432243_omim_ps271640 MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALNT2 condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A4 Autosomal recessive distal renal tubular acidosis mondo_mondo_0018440_medgen_c1864498_orphanet_402041 MONDO:MONDO:0018440,MedGen:C1864498,Orphanet:402041 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A2 Wrinkly skin syndrome mondo_mondo_0010208_medgen_c0406587_omim_278250_orphanet_2834 MONDO:MONDO:0010208,MedGen:C0406587,OMIM:278250,Orphanet:2834 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Intellectual developmental disorder, autosomal dominant 66 mondo_mondo_0030891_medgen_c5677000_omim_619910 MONDO:MONDO:0030891,MedGen:C5677000,OMIM:619910 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APRT condition not provided condition_not_provided MedGen:C3661900 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP Alzheimer disease human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 Gillessen-Kaesbach-Nishimura syndrome mondo_mondo_0009890_medgen_c1849762_omim_263210 MONDO:MONDO:0009890,MedGen:C1849762,OMIM:263210 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Glycogen storage disease IIIa medgen_c1968739 MedGen:C1968739 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADPRS Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures mondo_mondo_0100095_medgen_c4748527_omim_618170_orphanet_694922 MONDO:MONDO:0100095,MedGen:C4748527,OMIM:618170,Orphanet:694922 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders mondo_mondo_0859292_medgen_c5774224_omim_620065 MONDO:MONDO:0859292,MedGen:C5774224,OMIM:620065 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN1 Platelet-type bleeding disorder 15 mondo_mondo_0014078_medgen_c3554663_omim_615193_orphanet_140957 MONDO:MONDO:0014078,MedGen:C3554663,OMIM:615193,Orphanet:140957 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Hypertrichotic osteochondrodysplasia Cantu type mondo_mondo_0009406_medgen_c0795905_omim_239850_orphanet_1517 MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA12 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 17 17 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND10 Primary ciliary dyskinesia 22 mondo_mondo_0014192_medgen_c3809543_omim_615444_orphanet_244 MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB7A Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin mondo_mondo_0859231_medgen_c5676928_omim_619769_orphanet_694956 MONDO:MONDO:0859231,MedGen:C5676928,OMIM:619769,Orphanet:694956 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPO1 XPO1-associated Neurodevelopmental Disorder xpo1_associated_neurodevelopmental_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR73 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDPCP Bardet-Biedl syndrome 15 mondo_mondo_0014443_medgen_c3150127_omim_615992_orphanet_110 MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992,Orphanet:110 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Neuronopathy, distal hereditary motor, autosomal recessive 10 mondo_mondo_0957876_medgen_c5882703_omim_620542 MONDO:MONDO:0957876,MedGen:C5882703,OMIM:620542 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS16 Dystonia 30 mondo_mondo_0025691_medgen_c5543312_omim_619291 MONDO:MONDO:0025691,MedGen:C5543312,OMIM:619291 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCAN condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROS condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF3B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13D Familial hemophagocytic lymphohistiocytosis mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Infantile onset spinocerebellar ataxia mondo_mondo_0010060_medgen_c1849096_omim_271245_orphanet_1186 MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245,Orphanet:1186 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC19 Mitochondrial complex III deficiency nuclear type 2 mondo_mondo_0014063_medgen_c3554605_omim_615157 MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN2 Pontocerebellar hypoplasia type 2B mondo_mondo_0012890_medgen_c2676466_omim_612389_orphanet_2524 MONDO:MONDO:0012890,MedGen:C2676466,OMIM:612389,Orphanet:2524 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 TSC1-related disorder tsc1_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Rapp-Hodgkin syndrome mondo_mondo_0007508_medgen_c1785148_omim_129400 MONDO:MONDO:0007508,MedGen:C1785148,OMIM:129400 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS15 Enterokinase deficiency mondo_mondo_0009173_medgen_c0268416_omim_226200_orphanet_168601 MONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200,Orphanet:168601 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TK2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 mondo_mondo_0014898_medgen_c4310734_omim_617069_orphanet_254886 MONDO:MONDO:0014898,MedGen:C4310734,OMIM:617069,Orphanet:254886 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC6 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome mondo_mondo_0013362_medgen_c3150939_omim_613680_orphanet_363444 MONDO:MONDO:0013362,MedGen:C3150939,OMIM:613680,Orphanet:363444 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TH condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TG TG-related disorder tg_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Glaucoma 3, primary congenital, E mondo_mondo_0014998_medgen_c4310639_omim_617272 MONDO:MONDO:0014998,MedGen:C4310639,OMIM:617272 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARDBP FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED medgen_c3150169 MedGen:C3150169 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Basal cell nevus syndrome 2 mondo_mondo_0958189_medgen_c5830451_omim_620343 MONDO:MONDO:0958189,MedGen:C5830451,OMIM:620343 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STUB1 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Melanoma, cutaneous malignant, susceptibility to, 1 mondo_mondo_0007963_medgen_c1835047_omim_155600_orphanet_618 MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG2 Mullegama-Klein-Martinez syndrome mondo_mondo_0026722_medgen_c5193008_omim_301022 MONDO:MONDO:0026722,MedGen:C5193008,OMIM:301022 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Aortic aneurysm, familial thoracic 10 mondo_mondo_0014950_medgen_c4284414_omim_617168 MONDO:MONDO:0014950,MedGen:C4284414,OMIM:617168 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPR Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Fibromatosis, gingival, 1 mondo_mondo_0007609_medgen_c4551558_omim_135300_orphanet_2024 MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300,Orphanet:2024 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX27 Severe myoclonic epilepsy in infancy mondo_mondo_0100135_medgen_c0751122_omim_607208_orphanet_33069 MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Arrhinia with choanal atresia and microphthalmia syndrome mondo_mondo_0011323_medgen_c1863878_omim_603457_orphanet_1135_orphanet_2250 MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457,Orphanet:1135,Orphanet:2250 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Southeast Asian ovalocytosis mondo_mondo_0008165_medgen_c1862322_omim_166900_orphanet_98868 MONDO:MONDO:0008165,MedGen:C1862322,OMIM:166900,Orphanet:98868 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Malaria, susceptibility to mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 BLOOD GROUP--WRIGHT ANTIGEN medgen_c1862190_omim_112050 MedGen:C1862190,OMIM:112050 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 BLOOD GROUP--WALDNER TYPE medgen_c1862191_omim_112010 MedGen:C1862191,OMIM:112010 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 BLOOD GROUP--SWANN SYSTEM medgen_c1832169_omim_601550 MedGen:C1832169,OMIM:601550 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 BLOOD GROUP--FROESE medgen_c1832168_omim_601551 MedGen:C1832168,OMIM:601551 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC46A1 Congenital defect of folate absorption mondo_mondo_0009238_medgen_c0342705_omim_229050_orphanet_90045 MONDO:MONDO:0009238,MedGen:C0342705,OMIM:229050,Orphanet:90045 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A2 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Renal tubulopathies renal_tubulopathies . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 condition not provided condition_not_provided .|MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGPL1 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 SDCCAG8-related disorder sdccag8_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Autosomal dominant epilepsy autosomal_dominant_epilepsy . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAR1B condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH9 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1L1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1L1 Retinitis pigmentosa 88 mondo_mondo_0032940_medgen_c5394208_omim_618826 MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF14 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM10 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Hydrolethalus syndrome mondo_mondo_0006037_medgen_c2931104_omim_ps236680_orphanet_2189 MONDO:MONDO:0006037,MedGen:C2931104,OMIM:PS236680,Orphanet:2189 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTS condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Noonan syndrome with multiple lentigines mondo_mondo_0007893_medgen_c0175704_omim_ps151100_orphanet_500 MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH1R Primary failure of tooth eruption mondo_mondo_0007434_medgen_c1852222_omim_125350_orphanet_412206 MONDO:MONDO:0007434,MedGen:C1852222,OMIM:125350,Orphanet:412206 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB8 Proteosome-associated autoinflammatory syndrome mondo_mondo_0009726_medgen_c1850568_omim_ps256040_orphanet_324977 MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Vitelliform macular dystrophy 3 mondo_mondo_0024561_medgen_cn295869_omim_608161 MONDO:MONDO:0024561,MedGen:CN295869,OMIM:608161 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF8 Retinitis pigmentosa 13 mondo_mondo_0010806_medgen_c1838702_omim_600059_orphanet_791 MONDO:MONDO:0010806,MedGen:C1838702,OMIM:600059,Orphanet:791 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R1A Houge-Janssens syndrome 2 mondo_mondo_0014605_medgen_c4225352_omim_616362_orphanet_457284 MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLRMT Combined oxidative phosphorylation deficiency 55 mondo_mondo_0859228_medgen_c5676915_omim_619743 MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Auriculocondylar syndrome 2 mondo_mondo_0013845_medgen_c3553404_omim_614669_orphanet_137888 MONDO:MONDO:0013845,MedGen:C3553404,OMIM:614669,Orphanet:137888 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1L1 PKD1L1-related disorder pkd1l1_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGT condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B PHOX2B-related disorder phox2b_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF8 Syndromic X-linked intellectual disability Siderius type mondo_mondo_0010286_medgen_c1846055_omim_300263_orphanet_85287 MONDO:MONDO:0010286,MedGen:C1846055,OMIM:300263,Orphanet:85287 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP3 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Rhizomelic chondrodysplasia punctata type 5 mondo_mondo_0014743_medgen_c4225237_omim_616716_orphanet_468717 MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE4D Acrodysostosis 2 with or without hormone resistance mondo_mondo_0013822_medgen_c3553250_omim_614613_orphanet_280651 MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH12 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PADI6 Preimplantation embryonic lethality 2 medgen_c4310659_omim_617234 MedGen:C4310659,OMIM:617234 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC1 Meier-Gorlin syndrome 1 mondo_mondo_0009143_medgen_c4552001_omim_224690_orphanet_2554 MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA3 Optic atrophy 3 mondo_mondo_0008133_medgen_c1833809_omim_165300_orphanet_67036 MONDO:MONDO:0008133,MedGen:C1833809,OMIM:165300,Orphanet:67036 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCLN Pseudo-TORCH syndrome 1 mondo_mondo_0020789_medgen_c4552078_omim_251290_orphanet_1229 MONDO:MONDO:0020789,MedGen:C4552078,OMIM:251290,Orphanet:1229 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 NPC1-related disorder npc1_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NICN1 Glycine encephalopathy human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Cafe au lait spots, multiple human_phenotype_ontology_hp_0007416_human_phenotype_ontology_hp_0007565_mondo_mondo_0007245_medgen_c1861975_omim_114030_orphanet_2678 Human_Phenotype_Ontology:HP:0007416,Human_Phenotype_Ontology:HP:0007565,MONDO:MONDO:0007245,MedGen:C1861975,OMIM:114030,Orphanet:2678 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEU1 Sialidosis mondo_mondo_0017734_medgen_c0268226_orphanet_309294 MONDO:MONDO:0017734,MedGen:C0268226,Orphanet:309294 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOC Glaucoma 1, open angle, A mondo_mondo_0007664_medgen_c1842028_omim_137750_orphanet_98977 MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750,Orphanet:98977 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO1E Focal segmental glomerulosclerosis 6 mondo_mondo_0013589_medgen_c3279905_omim_614131_orphanet_656 MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYCBP2 condition not provided condition_not_provided .|MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Schizophrenia human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia mondo_mondo_0060611_medgen_c4540434_omim_617780_orphanet_658813 MONDO:MONDO:0060611,MedGen:C4540434,OMIM:617780,Orphanet:658813 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSN condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MERTK Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV Familial Mediterranean fever mondo_mondo_0018088_medgen_c0031069_omim_249100_orphanet_342 MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 FG syndrome mondo_mondo_0002010_medgen_c0220769_omim_ps305450 MONDO:MONDO:0002010,MedGen:C0220769,OMIM:PS305450 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R Early onset severe obesity medgen_c4013980 MedGen:C4013980 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS1 condition not provided condition_not_provided .|MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAK Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF Ayme-Gripp syndrome mondo_mondo_0010992_medgen_c1832812_omim_601088 MONDO:MONDO:0010992,MedGen:C1832812,OMIM:601088 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Aortic aneurysm, familial thoracic 10 mondo_mondo_0014950_medgen_c4284414_omim_617168 MONDO:MONDO:0014950,MedGen:C4284414,OMIM:617168 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCAT condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCAT Norum disease mondo_mondo_0009515_medgen_c0023195_omim_245900_orphanet_79293 MONDO:MONDO:0009515,MedGen:C0023195,OMIM:245900,Orphanet:79293 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA5 Nephrotic syndrome, IIa 26 mondo_mondo_0031061_medgen_c5774221_omim_620049 MONDO:MONDO:0031061,MedGen:C5774221,OMIM:620049 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM X-linked complicated corpus callosum dysgenesis mondo_mondo_0010569_medgen_c1839909_omim_304100_orphanet_1497 MONDO:MONDO:0010569,MedGen:C1839909,OMIM:304100,Orphanet:1497 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRTCAP3 Short-rib thoracic dysplasia 10 with or without polydactyly mondo_mondo_0014284_medgen_c3810175_omim_615630_orphanet_474 MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Epidermolysis bullosa simplex 1A, generalized severe mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 KRIT1-related disorder krit1_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ5 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Short QT syndrome type 1 mondo_mondo_0012312_medgen_c1865020_omim_609620_orphanet_51083 MONDO:MONDO:0012312,MedGen:C1865020,OMIM:609620,Orphanet:51083 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Charcot-Marie-Tooth disease, axonal, Type 2HH mondo_mondo_0030458_medgen_c5562003_omim_619574 MONDO:MONDO:0030458,MedGen:C5562003,OMIM:619574 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Myocardial infarction, susceptibility to mondo_mondo_0012039_medgen_c1832662_omim_608446 MONDO:MONDO:0012039,MedGen:C1832662,OMIM:608446 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E MORM syndrome mondo_mondo_0012423_medgen_c1857802_omim_610156_orphanet_75858 MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156,Orphanet:75858 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RAPL1 Intellectual disability, X-linked 21 mondo_mondo_0010256_medgen_c5551510_omim_300143_orphanet_777 MONDO:MONDO:0010256,MedGen:C5551510,OMIM:300143,Orphanet:777 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10RB Inflammatory bowel disease 25 mondo_mondo_0012941_medgen_c2675508_omim_612567_orphanet_238569 MONDO:MONDO:0012941,MedGen:C2675508,OMIM:612567,Orphanet:238569 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Incontinentia pigmenti syndrome mondo_mondo_0010631_medgen_c0021171_omim_308300_orphanet_464 MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300,Orphanet:464 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 Disseminated atypical mycobacterial infection medgen_c0694566 MedGen:C0694566 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Hydrolethalus syndrome mondo_mondo_0006037_medgen_c2931104_omim_ps236680_orphanet_2189 MONDO:MONDO:0006037,MedGen:C2931104,OMIM:PS236680,Orphanet:2189 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD11B2 Apparent mineralocorticoid excess mondo_mondo_0009025_medgen_c0342488_omim_218030_orphanet_320 MONDO:MONDO:0009025,MedGen:C0342488,OMIM:218030,Orphanet:320 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPSE2 Urofacial syndrome type 1 mondo_mondo_0009368_medgen_cn033872_omim_236730_orphanet_2704 MONDO:MONDO:0009368,MedGen:CN033872,OMIM:236730,Orphanet:2704 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT Sanfilippo syndrome mondo_mondo_0018937_medgen_c0026706_orphanet_581 MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEPACAM condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A condition not provided condition_not_provided .|MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP6 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GORAB Geroderma osteodysplastica mondo_mondo_0009271_medgen_c0432255_omim_231070_orphanet_2078 MONDO:MONDO:0009271,MedGen:C0432255,OMIM:231070,Orphanet:2078 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Pituitary adenoma 3, multiple types mondo_mondo_0054665_medgen_c4540135_omim_617686 MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GH1 Autosomal dominant isolated somatotropin deficiency mondo_mondo_0008250_medgen_c0271567_omim_173100_orphanet_231679_orphanet_631 MONDO:MONDO:0008250,MedGen:C0271567,OMIM:173100,Orphanet:231679,Orphanet:631 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 Atrioventricular septal defect 4 mondo_mondo_0013747_medgen_c3280781_omim_614430 MONDO:MONDO:0013747,MedGen:C3280781,OMIM:614430 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 Epidermolysis bullosa, junctional 5A, intermediate mondo_mondo_0030768_medgen_c5676956_omim_619816 MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSIP2 Spermatogenic failure 34 mondo_mondo_0029148_medgen_c4748403_omim_618153 MONDO:MONDO:0029148,MedGen:C4748403,OMIM:618153 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHR Ovarian dysgenesis 1 mondo_mondo_0024463_medgen_c0949595_omim_233300_orphanet_243 MONDO:MONDO:0024463,MedGen:C0949595,OMIM:233300,Orphanet:243 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 Anterior segment dysgenesis 3 mondo_mondo_0024456_medgen_c5975707_omim_601631_orphanet_91483 MONDO:MONDO:0024456,MedGen:C5975707,OMIM:601631,Orphanet:91483 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Levy-Hollister syndrome mondo_mondo_0007872_medgen_c0265269_omim_ps149730_orphanet_2363 MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730,Orphanet:2363 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT4 Van Maldergem syndrome 2 mondo_mondo_0014242_medgen_c3809875_omim_615546_orphanet_314679 MONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546,Orphanet:314679 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20C Lethal osteosclerotic bone dysplasia mondo_mondo_0009821_medgen_c1850106_omim_259775_orphanet_1832 MONDO:MONDO:0009821,MedGen:C1850106,OMIM:259775,Orphanet:1832 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FA2H condition not provided condition_not_provided .|MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS EYS-related disorder eys_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Emery-Dreifuss muscular dystrophy 1, X-linked mondo_mondo_0100531_medgen_c5243475_omim_310300 MONDO:MONDO:0100531,MedGen:C5243475,OMIM:310300 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB Waardenburg syndrome type 4A mondo_mondo_0010192_medgen_c1848519_omim_277580_orphanet_897 MONDO:MONDO:0010192,MedGen:C1848519,OMIM:277580,Orphanet:897 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2LI1 Sitosterolemia 2 mondo_mondo_0020748_medgen_c5231453_omim_618666 MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC12 Hyperphenylalaninemia due to DNAJC12 deficiency mondo_mondo_0044304_medgen_c4479270_omim_617384_orphanet_508523 MONDO:MONDO:0044304,MedGen:C4479270,OMIM:617384,Orphanet:508523 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A condition not provided condition_not_provided .|MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Rhabdomyosarcoma, embryonal, 2 mondo_mondo_0859046_medgen_c1867234_omim_180295 MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 Congenital adrenal hyperplasia human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD Brooke-Spiegler syndrome mondo_mondo_0011512_medgen_c1857941_omim_605041_orphanet_79493 MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041,Orphanet:79493 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTRC Hereditary pancreatitis mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Bethlem myopathy 1B mondo_mondo_0958233_medgen_c5935580_omim_620725 MONDO:MONDO:0958233,MedGen:C5935580,OMIM:620725 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Fibrochondrogenesis 2 mondo_mondo_0013795_medgen_c3281128_omim_614524_orphanet_2021 MONDO:MONDO:0013795,MedGen:C3281128,OMIM:614524,Orphanet:2021 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Skeletal muscle channelopathy skeletal_muscle_channelopathy . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Batten-Turner congenital myopathy mondo_mondo_0100468_medgen_c0027127_omim_255300_orphanet_206973 MONDO:MONDO:0100468,MedGen:C0027127,OMIM:255300,Orphanet:206973 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CKAP2L Filippi syndrome mondo_mondo_0010092_medgen_c0795940_omim_272440_orphanet_3255 MONDO:MONDO:0010092,MedGen:C0795940,OMIM:272440,Orphanet:3255 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 Retinal dystrophy with or without macular staphyloma mondo_mondo_0060507_medgen_c4479651_omim_617547_orphanet_653709 MONDO:MONDO:0060507,MedGen:C4479651,OMIM:617547,Orphanet:653709 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP300 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Hyperparathyroidism 1 mondo_mondo_0007767_medgen_c1840402_omim_145000_orphanet_99879 MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000,Orphanet:99879 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3D Immunodeficiency 19 mondo_mondo_0014280_medgen_c3810147_omim_615617 MONDO:MONDO:0014280,MedGen:C3810147,OMIM:615617 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD36 CD36-related disorder cd36_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNO Primary ciliary dyskinesia 29 mondo_mondo_0014378_medgen_c4014534_omim_615872_orphanet_244 MONDO:MONDO:0014378,MedGen:C4014534,OMIM:615872,Orphanet:244 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS CBS-related disorder cbs_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ2 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM2 Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F X-linked cone-rod dystrophy 3 mondo_mondo_0010335_medgen_c1845407_omim_300476_orphanet_1872 MONDO:MONDO:0010335,MedGen:C1845407,OMIM:300476,Orphanet:1872 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 Atypical hemolytic-uremic syndrome with C3 anomaly mondo_mondo_0013043_medgen_c2752037_omim_612925_orphanet_2134 MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Severe neurodegenerative syndrome with lipodystrophy mondo_mondo_0014402_medgen_c4014700_omim_615924_orphanet_363400 MONDO:MONDO:0014402,MedGen:C4014700,OMIM:615924,Orphanet:363400 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Berardinelli-Seip congenital lipodystrophy mondo_mondo_0018883_medgen_cn262437_orphanet_528 MONDO:MONDO:0018883,MedGen:CN262437,Orphanet:528 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 BBS9-related disorder bbs9_related_disorder . 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GLCT Peters plus syndrome mondo_mondo_0009856_medgen_c0796012_omim_261540_orphanet_709 MONDO:MONDO:0009856,MedGen:C0796012,OMIM:261540,Orphanet:709 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1A Developmental and epileptic encephalopathy 93 mondo_mondo_0020632_medgen_c4693934_omim_618012 MONDO:MONDO:0020632,MedGen:C4693934,OMIM:618012 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPH Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome mondo_mondo_0011106_medgen_c1832167_omim_601552_orphanet_412022 MONDO:MONDO:0011106,MedGen:C1832167,OMIM:601552,Orphanet:412022 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC1 Spinal muscular atrophy with congenital bone fractures 2 mondo_mondo_0014807_medgen_c4225176_omim_616867 MONDO:MONDO:0014807,MedGen:C4225176,OMIM:616867 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARPC1B condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5Z1 condition not provided condition_not_provided MedGen:C3661900 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH1A3 Isolated microphthalmia 8 mondo_mondo_0014050_medgen_c3554524_omim_615113_orphanet_2542 MONDO:MONDO:0014050,MedGen:C3554524,OMIM:615113,Orphanet:2542 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKR1D1 Congenital bile acid synthesis defect 2 mondo_mondo_0009339_medgen_c1856127_omim_235555_orphanet_79303 MONDO:MONDO:0009339,MedGen:C1856127,OMIM:235555,Orphanet:79303 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTPBP1 Neurodegeneration, childhood-onset, with cerebellar atrophy mondo_mondo_0032650_medgen_c4748934_omim_618276 MONDO:MONDO:0032650,MedGen:C4748934,OMIM:618276 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AEBP1 Ehlers-Danlos syndrome, classic-like, 2 mondo_mondo_0054813_medgen_c4693870_omim_618000_orphanet_536532 MONDO:MONDO:0054813,MedGen:C4693870,OMIM:618000,Orphanet:536532 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Polymicrogyria, bilateral perisylvian, autosomal recessive mondo_mondo_0014333_medgen_c3810405_omim_615752 MONDO:MONDO:0014333,MedGen:C3810405,OMIM:615752 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 mondo_mondo_0030329_medgen_c5543636_omim_619431 MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence AASS Hyperlysinemia human_phenotype_ontology_hp_0002161_mondo_mondo_0009388_medgen_c0268553_orphanet_2203 Human_Phenotype_Ontology:HP:0002161,MONDO:MONDO:0009388,MedGen:C0268553,Orphanet:2203 16 16 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WHRN Usher syndrome type 2D mondo_mondo_0012662_medgen_c1568249_omim_611383_orphanet_231178_orphanet_886 MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 WFS1-related disorder mondo_mondo_0700293_medgen_cn379391 MONDO:MONDO:0700293,MedGen:CN379391 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WBP11 Vertebral, cardiac, tracheoesophageal, renal, and limb defects mondo_mondo_0030987_medgen_c5543189_omim_619227 MONDO:MONDO:0030987,MedGen:C5543189,OMIM:619227 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Von Willebrand disease type 2B mondo_mondo_0015629_medgen_c1282971_orphanet_166087 MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS45 Congenital neutropenia-myelofibrosis-nephromegaly syndrome mondo_mondo_0014118_medgen_c3809031_omim_615285_orphanet_369852 MONDO:MONDO:0014118,MedGen:C3809031,OMIM:615285,Orphanet:369852 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCAN Wagner disease human_phenotype_ontology_hp_0030673_mondo_mondo_0007740_medgen_c1840452_omim_143200_orphanet_898 Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Monogenic hearing loss monogenic_hearing_loss . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPB1 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13D Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUSC3 Intellectual disability, autosomal recessive 7 mondo_mondo_0012615_medgen_c1970197_omim_611093_orphanet_88616 MONDO:MONDO:0012615,MedGen:C1970197,OMIM:611093,Orphanet:88616 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC7A condition not provided condition_not_provided .|MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Pontocerebellar hypoplasia type 2A mondo_mondo_0010190_medgen_c1848526_omim_277470_orphanet_2524 MONDO:MONDO:0010190,MedGen:C1848526,OMIM:277470,Orphanet:2524 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM8 Focal segmental glomerulosclerosis and neurodevelopmental syndrome mondo_mondo_0100111_medgen_c5561938_omim_619428 MONDO:MONDO:0100111,MedGen:C5561938,OMIM:619428 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPRN Autosomal recessive nonsyndromic hearing loss 79 mondo_mondo_0013215_medgen_c2750082_omim_613307_orphanet_90636 MONDO:MONDO:0013215,MedGen:C2750082,OMIM:613307,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Dilated cardiomyopathy 1Y mondo_mondo_0012744_medgen_c2678476_omim_611878_orphanet_154_orphanet_54260 MONDO:MONDO:0012744,MedGen:C2678476,OMIM:611878,Orphanet:154,Orphanet:54260 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOPORS condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFE3 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies mondo_mondo_0859080_medgen_c5561930_omim_301066 MONDO:MONDO:0859080,MedGen:C5561930,OMIM:301066 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TF Atransferrinemia human_phenotype_ontology_hp_0012239_mondo_mondo_0008846_medgen_c0521802_omim_209300_orphanet_1195 Human_Phenotype_Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Pulmonary fibrosis human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCE Encephalopathy, progressive, with amyotrophy and optic atrophy mondo_mondo_0014968_medgen_c4310667_omim_617207 MONDO:MONDO:0014968,MedGen:C4310667,OMIM:617207 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Autosomal recessive nonsyndromic hearing loss 86 mondo_mondo_0013826_medgen_c2829265_omim_614617_orphanet_90636 MONDO:MONDO:0013826,MedGen:C2829265,OMIM:614617,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARS2 Combined oxidative phosphorylation defect type 21 mondo_mondo_0014398_medgen_c4706316_omim_615918_orphanet_420733 MONDO:MONDO:0014398,MedGen:C4706316,OMIM:615918,Orphanet:420733 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF4 Intellectual developmental disorder, autosomal dominant 73 mondo_mondo_0957536_medgen_c5830636_omim_620450 MONDO:MONDO:0957536,MedGen:C5830636,OMIM:620450 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 SYNE1-related disorder syne1_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCE2 Glutaric aciduria, type 1 mondo_mondo_0009281_medgen_c0268595_omim_231670_orphanet_25 MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAMBP Microcephaly-capillary malformation syndrome mondo_mondo_0013659_medgen_c3280296_omim_614261_orphanet_294016 MONDO:MONDO:0013659,MedGen:C3280296,OMIM:614261,Orphanet:294016 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG2 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Pyropoikilocytosis, hereditary human_phenotype_ontology_hp_0004805_human_phenotype_ontology_hp_0004839_mondo_mondo_0009948_medgen_c0520739_omim_266140 Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 SPG11-related disorder spg11_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEG Myopathy, centronuclear, 5 mondo_mondo_0014418_medgen_c4014814_omim_615959_orphanet_169186 MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMN1 Spinal muscular atrophy human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A3 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A7 Congenital myasthenic syndrome 20 mondo_mondo_0014939_medgen_c4310694_omim_617143 MONDO:MONDO:0014939,MedGen:C4310694,OMIM:617143 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 condition not provided condition_not_provided .|MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 SLC2A1-related disorder slc2a1_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Sulfate transporter-related osteochondrodysplasia sulfate_transporter_related_osteochondrodysplasia MedGen:CN120497 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A38 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A22 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA6B condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHAF2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1L1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORB Epilepsy, idiopathic generalized, susceptibility to, 15 mondo_mondo_0032699_medgen_c5193050_omim_618357 MONDO:MONDO:0032699,MedGen:C5193050,OMIM:618357 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC RNU4ATAC spectrum disorder mondo_mondo_0100558_medgen_cn377746 MONDO:MONDO:0100558,MedGen:CN377746 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC Osteodysplastic primordial dwarfism, type 1 mondo_mondo_0008871_medgen_c1859452_omim_210710_orphanet_2636 MONDO:MONDO:0008871,MedGen:C1859452,OMIM:210710,Orphanet:2636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Bothnia retinal dystrophy mondo_mondo_0011838_medgen_c1843816_omim_607475_orphanet_85128 MONDO:MONDO:0011838,MedGen:C1843816,OMIM:607475,Orphanet:85128 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFT1 RFT1-congenital disorder of glycosylation mondo_mondo_0012783_medgen_c2677590_omim_612015_orphanet_244310 MONDO:MONDO:0012783,MedGen:C2677590,OMIM:612015,Orphanet:244310 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Aganglionic megacolon human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDX Autosomal recessive nonsyndromic hearing loss 24 mondo_mondo_0012602_medgen_c1970239_omim_611022_orphanet_90636 MONDO:MONDO:0012602,MedGen:C1970239,OMIM:611022,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS2 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 RAI1-related disorder rai1_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 PYCR1-related de Barsy syndrome mondo_mondo_0013755_medgen_c3280799_omim_614438_orphanet_293633_orphanet_2962 MONDO:MONDO:0013755,MedGen:C3280799,OMIM:614438,Orphanet:293633,Orphanet:2962 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD12 Stankiewicz-Isidor syndrome mondo_mondo_0054591_medgen_c4479599_omim_617516 MONDO:MONDO:0054591,MedGen:C4479599,OMIM:617516 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP Krabbe disease due to saposin A deficiency mondo_mondo_0012720_medgen_c2673266_omim_611722_orphanet_487 MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722,Orphanet:487 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP Gerstmann-Straussler-Scheinker syndrome mondo_mondo_0007656_medgen_c0017495_omim_137440_orphanet_356 MONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440,Orphanet:356 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Lethal congenital glycogen storage disease of heart mondo_mondo_0009867_medgen_c1849813_omim_261740_orphanet_439854 MONDO:MONDO:0009867,MedGen:C1849813,OMIM:261740,Orphanet:439854 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F3 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRB Infantile myofibromatosis mondo_mondo_0016824_medgen_c0432284_omim_ps228550_orphanet_2591 MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550,Orphanet:2591 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX1 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H1 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD6B Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies mondo_mondo_0044319_medgen_c4479520_omim_617452_orphanet_505237 MONDO:MONDO:0044319,MedGen:C4479520,OMIM:617452,Orphanet:505237 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN Rhabdomyolysis, susceptibility to, 1 mondo_mondo_0859371_medgen_c5774307_omim_620235 MONDO:MONDO:0859371,MedGen:C5774307,OMIM:620235 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NYX Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 NOTCH1-related disorder notch1_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEMF condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEMF Intellectual developmental disorder with speech delay and axonal peripheral neuropathy mondo_mondo_0030849_medgen_c5436813_omim_619099 MONDO:MONDO:0030849,MedGen:C5436813,OMIM:619099 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 NEK1-related disorder nek1_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF6 Mitochondrial complex I deficiency, nuclear type 17 mondo_mondo_0032622_medgen_c4748786_omim_618239 MONDO:MONDO:0032622,MedGen:C4748786,OMIM:618239 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAXD NAD(P)HX dehydratase deficiency mondo_mondo_0034121_medgen_c5193026_omim_618321_orphanet_555402 MONDO:MONDO:0034121,MedGen:C5193026,OMIM:618321,Orphanet:555402 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYORG condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Autosomal recessive nonsyndromic hearing loss 37 mondo_mondo_0011912_medgen_c1843028_omim_607821_orphanet_90636 MONDO:MONDO:0011912,MedGen:C1843028,OMIM:607821,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL4 Atrial fibrillation, familial, 18 mondo_mondo_0015001_medgen_c4310636_omim_617280 MONDO:MONDO:0015001,MedGen:C4310636,OMIM:617280 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Familial cardiomyopathy mondo_mondo_0005217_medgen_c0264789 MONDO:MONDO:0005217,MedGen:C0264789 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A mondo_mondo_0008338_medgen_c1867440_omim_178110_orphanet_65743 MONDO:MONDO:0008338,MedGen:C1867440,OMIM:178110,Orphanet:65743 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Combined oxidative phosphorylation defect type 15 mondo_mondo_0013987_medgen_c4706313_omim_614947_orphanet_319524 MONDO:MONDO:0013987,MedGen:C4706313,OMIM:614947,Orphanet:319524 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Dejerine-Sottas disease mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy mondo_mondo_0030835_medgen_c5436781_omim_619090 MONDO:MONDO:0030835,MedGen:C5436781,OMIM:619090 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAA Methylmalonic acidemia human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIP Cataract 15 multiple types mondo_mondo_0014110_medgen_c3809001_omim_615274_orphanet_91492 MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274,Orphanet:91492 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b mondo_mondo_0014906_medgen_c4310725_omim_617087 MONDO:MONDO:0014906,MedGen:C4310725,OMIM:617087 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Cholestasis-pigmentary retinopathy-cleft palate syndrome mondo_mondo_0012997_mesh_c535632_medgen_c0795969_omim_301068_orphanet_1415 MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068,Orphanet:1415 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC1 Methylcrotonyl-CoA carboxylase deficiency mondo_mondo_0018950_medgen_c4551505_omim_ps210200_orphanet_6 MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP1 3MC syndrome 1 mondo_mondo_0009770_medgen_c0796059_omim_257920_orphanet_293843 MONDO:MONDO:0009770,MedGen:C0796059,OMIM:257920,Orphanet:293843 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARVELD2 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MANBA condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Heart-hand syndrome, Slovenian type mondo_mondo_0012417_medgen_c1857829_omim_610140_orphanet_168796 MONDO:MONDO:0012417,MedGen:C1857829,OMIM:610140,Orphanet:168796 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome mondo_mondo_0008915_medgen_c0796031_omim_212112_orphanet_2229 MONDO:MONDO:0008915,MedGen:C0796031,OMIM:212112,Orphanet:2229 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 Autosomal recessive nonsyndromic hearing loss 67 mondo_mondo_0012460_medgen_c1853223_omim_610265_orphanet_90636 MONDO:MONDO:0012460,MedGen:C1853223,OMIM:610265,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEPR condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 Dermatofibrosis lenticularis disseminata mondo_mondo_0008157_medgen_c0265514_omim_166700_orphanet_1306 MONDO:MONDO:0008157,MedGen:C0265514,OMIM:166700,Orphanet:1306 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC2 Junctional epidermolysis bullosa mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB1 Cobblestone lissencephaly without muscular or ocular involvement mondo_mondo_0014077_medgen_c3554657_omim_615191_orphanet_352682 MONDO:MONDO:0014077,MedGen:C3554657,OMIM:615191,Orphanet:352682 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT16 Pachyonychia congenita 1 mondo_mondo_0008173_medgen_c1706595_omim_167200_orphanet_2309 MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200,Orphanet:2309 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIFBP Goldberg-Shprintzen syndrome mondo_mondo_0012280_medgen_c1836123_omim_609460_orphanet_66629 MONDO:MONDO:0012280,MedGen:C1836123,OMIM:609460,Orphanet:66629 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF14 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome mondo_mondo_0014552_medgen_c4015701_omim_616258_orphanet_439897 MONDO:MONDO:0014552,MedGen:C4015701,OMIM:616258,Orphanet:439897 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B condition not provided condition_not_provided .|MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM2A KDM2A-related neurodevelopmental disorder kdm2a_related_neurodevelopmental_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B KAT6B-related disorder kat6b_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JMJD8 Spinocerebellar ataxia 48 mondo_mondo_0032526_medgen_c4748158_omim_618093_orphanet_631103 MONDO:MONDO:0032526,MedGen:C4748158,OMIM:618093,Orphanet:631103 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Deafness, congenital heart defects, and posterior embryotoxon mondo_mondo_0060713_medgen_c1866053_omim_617992 MONDO:MONDO:0060713,MedGen:C1866053,OMIM:617992 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA6 Epidermolysis bullosa, junctional 6, with pyloric atresia mondo_mondo_0859233_medgen_c5676957_omim_619817 MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Neuronopathy, distal hereditary motor, autosomal dominant mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IARS1 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy mondo_mondo_0014911_medgen_c4310720_omim_617093_orphanet_541423 MONDO:MONDO:0014911,MedGen:C4310720,OMIM:617093,Orphanet:541423 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 Neuronopathy, distal hereditary motor, type 2B mondo_mondo_0012080_medgen_c2608087_omim_608634_orphanet_139525 MONDO:MONDO:0012080,MedGen:C2608087,OMIM:608634,Orphanet:139525 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B2 Congenital adrenal hyperplasia human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 Synpolydactyly type 1 mondo_mondo_0008513_medgen_c5574994_omim_186000_orphanet_295195 MONDO:MONDO:0008513,MedGen:C5574994,OMIM:186000,Orphanet:295195 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 Developmental and epileptic encephalopathy, 24 mondo_mondo_0014377_medgen_c4014531_omim_615871_orphanet_442835 MONDO:MONDO:0014377,MedGen:C4014531,OMIM:615871,Orphanet:442835 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS2 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTPBP3 Combined oxidative phosphorylation defect type 23 mondo_mondo_0014525_medgen_c5567743_omim_616198_orphanet_444013 MONDO:MONDO:0014525,MedGen:C5567743,OMIM:616198,Orphanet:444013 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Hearing loss, autosomal dominant 80 mondo_mondo_0030998_medgen_c5543289_omim_619274 MONDO:MONDO:0030998,MedGen:C5543289,OMIM:619274 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPT2 Glutamate pyruvate transaminase 2 deficiency mondo_mondo_0014567_medgen_c4225388_omim_616281_orphanet_477673 MONDO:MONDO:0014567,MedGen:C4225388,OMIM:616281,Orphanet:477673 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR179 Congenital stationary night blindness 1E mondo_mondo_0013807_medgen_c3281215_omim_614565_orphanet_215 MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Nystagmus 6, congenital, X-linked mondo_mondo_0010435_medgen_c3151752_omim_300814 MONDO:MONDO:0010435,MedGen:C3151752,OMIM:300814 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPAA1 Glycosylphosphatidylinositol biosynthesis defect 15 mondo_mondo_0060627_medgen_c4540520_omim_617810_orphanet_529665 MONDO:MONDO:0060627,MedGen:C4540520,OMIM:617810,Orphanet:529665 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Autosomal recessive nonsyndromic hearing loss 1B mondo_mondo_0012977_medgen_c2675235_omim_612645_orphanet_90636 MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GANAB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAD1 Developmental and epileptic encephalopathy 89 mondo_mondo_0030856_medgen_c5436853_omim_619124 MONDO:MONDO:0030856,MedGen:C5436853,OMIM:619124 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRYL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 Mitochondrial complex I deficiency, nuclear type 19 mondo_mondo_0032624_medgen_c4748791_omim_618241 MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDXR Auditory neuropathy-optic atrophy syndrome mondo_mondo_0060582_medgen_c4521678_omim_617717_orphanet_542585 MONDO:MONDO:0060582,MedGen:C4521678,OMIM:617717,Orphanet:542585 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F5 Thrombophilia due to activated protein C resistance mondo_mondo_0008560_medgen_c1861171_omim_188055 MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13A1 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN Autosomal recessive nonsyndromic hearing loss 36 mondo_mondo_0012170_medgen_c1837007_omim_609006_orphanet_90636 MONDO:MONDO:0012170,MedGen:C1837007,OMIM:609006,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 Lymphatic malformation 7 mondo_mondo_0015009_medgen_c4310629_omim_617300 MONDO:MONDO:0015009,MedGen:C4310629,OMIM:617300 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB42 Hereditary spherocytosis type 5 mondo_mondo_0012985_medgen_c2675192_omim_612690_orphanet_822 MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTPD1 Hereditary spastic paraplegia 64 mondo_mondo_0014303_medgen_c3810289_omim_615683_orphanet_401810 MONDO:MONDO:0014303,MedGen:C3810289,OMIM:615683,Orphanet:401810 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 Leukoencephalopathy with vanishing white matter 2 mondo_mondo_0957870_medgen_c5830404_omim_620312 MONDO:MONDO:0957870,MedGen:C5830404,OMIM:620312 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2LI1 Short-rib thoracic dysplasia 15 with polydactyly mondo_mondo_0014907_medgen_c4310724_omim_617088 MONDO:MONDO:0014907,MedGen:C4310724,OMIM:617088 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 DYNC1H1-related disorder dync1h1_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Familial isolated arrhythmogenic right ventricular dysplasia mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 Palmoplantar keratoderma i, striate, focal, or diffuse mondo_mondo_0007859_medgen_c2931122_omim_148700_orphanet_369999_orphanet_370002 MONDO:MONDO:0007859,MedGen:C2931122,OMIM:148700,Orphanet:369999,Orphanet:370002 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 Autosomal dominant polycystic kidney disease mondo_mondo_0004691_medgen_c0085413_orphanet_730 MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Very long chain acyl-CoA dehydrogenase deficiency mondo_mondo_0008723_medgen_c3887523_omim_201475_orphanet_26793 MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLAT Pyruvate dehydrogenase E2 deficiency mondo_mondo_0009502_medgen_c1855565_omim_245348_orphanet_765_orphanet_79244 MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348,Orphanet:765,Orphanet:79244 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHFR Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGUOK Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 mondo_mondo_0014899_medgen_c4310733_omim_617070_orphanet_329314 MONDO:MONDO:0014899,MedGen:C4310733,OMIM:617070,Orphanet:329314 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Subcortical laminar heterotopia, X-linked medgen_c1848070 MedGen:C1848070 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 condition not provided condition_not_provided .|MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB5R3 Deficiency of cytochrome-b5 reductase mondo_mondo_0009606_medgen_c0268193_omim_250800_orphanet_621 MONDO:MONDO:0009606,MedGen:C0268193,OMIM:250800,Orphanet:621 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB2 Focal segmental glomerulosclerosis 9 mondo_mondo_0014539_medgen_c4015555_omim_616220_orphanet_656 MONDO:MONDO:0014539,MedGen:C4015555,OMIM:616220,Orphanet:656 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT1C Hereditary spastic paraplegia 73 mondo_mondo_0014568_medgen_c5568981_omim_616282_orphanet_444099 MONDO:MONDO:0014568,MedGen:C5568981,OMIM:616282,Orphanet:444099 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 mondo_mondo_0014051_medgen_c3554534_omim_615119_orphanet_1561 MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119,Orphanet:1561 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLQ Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Ehlers-Danlos syndrome, classic type, 2 mondo_mondo_0019568_medgen_c0268336_omim_130010_orphanet_287_orphanet_90318 MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Familial aortopathy familial_aortopathy MedGen:CN078214 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG6 condition not provided condition_not_provided .|MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPP Perrault syndrome 3 mondo_mondo_0013588_medgen_c3808414_omim_614129_orphanet_2855 MONDO:MONDO:0013588,MedGen:C3808414,OMIM:614129,Orphanet:2855 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 RNU4ATAC spectrum disorder mondo_mondo_0100558_medgen_cn377746 MONDO:MONDO:0100558,MedGen:CN377746 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 Osteodysplastic primordial dwarfism, type 1 mondo_mondo_0008871_medgen_c1859452_omim_210710_orphanet_2636 MONDO:MONDO:0008871,MedGen:C1859452,OMIM:210710,Orphanet:2636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 Autosomal recessive nonsyndromic hearing loss 48 mondo_mondo_0012273_medgen_c1836199_omim_609439_orphanet_90636 MONDO:MONDO:0012273,MedGen:C1836199,OMIM:609439,Orphanet:90636 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFI Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP43 Spermatogenic failure 19 mondo_mondo_0054723_medgen_c4539818_omim_617592 MONDO:MONDO:0054723,MedGen:C4539818,OMIM:617592 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Blepharocheilodontic syndrome 1 mondo_mondo_0054740_medgen_c4551988_omim_119580_orphanet_1997 MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580,Orphanet:1997 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCBE1 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBLIF Hereditary intrinsic factor deficiency mondo_mondo_0009852_medgen_c2062370_omim_261000_orphanet_332 MONDO:MONDO:0009852,MedGen:C2062370,OMIM:261000,Orphanet:332 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL CBL-related disorder mondo_mondo_0013308_medgen_c3150803_omim_613563_orphanet_363972 MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM1 Long QT syndrome 14 mondo_mondo_0014548_medgen_c4015671_omim_616247_orphanet_101016_orphanet_768 MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D2 Cerebellar atrophy with seizures and variable developmental delay mondo_mondo_0032788_medgen_c5193132_omim_618501 MONDO:MONDO:0032788,MedGen:C5193132,OMIM:618501 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSND Bartter disease type 4A mondo_mondo_0011242_medgen_c1865270_omim_602522_orphanet_112 MONDO:MONDO:0011242,MedGen:C1865270,OMIM:602522,Orphanet:112 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Neuronopathy, distal hereditary motor, type 5C mondo_mondo_0030860_medgen_c5436838_omim_619112 MONDO:MONDO:0030860,MedGen:C5436838,OMIM:619112 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP1 Osteogenesis imperfecta type 13 mondo_mondo_0013924_medgen_c3553887_omim_614856_orphanet_666 MONDO:MONDO:0013924,MedGen:C3553887,OMIM:614856,Orphanet:666 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 BEST1-related disorder best1_related_disorder MedGen:CN239200 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 BBS10-related disorder bbs10_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVPR2 Nephrogenic syndrome of inappropriate antidiuresis mondo_mondo_0010356_medgen_c1845202_omim_300539_orphanet_93606 MONDO:MONDO:0010356,MedGen:C1845202,OMIM:300539,Orphanet:93606 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2C1 Familial benign pemphigus mondo_mondo_0008218_medgen_c0085106_omim_169600_orphanet_2841 MONDO:MONDO:0008218,MedGen:C0085106,OMIM:169600,Orphanet:2841 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Developmental and epileptic encephalopathy 98 mondo_mondo_0030472_medgen_c5562017_omim_619605 MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC1 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC9 Joubert syndrome 30 mondo_mondo_0033308_medgen_c4539937_omim_617622 MONDO:MONDO:0033308,MedGen:C4539937,OMIM:617622 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP6 Amelogenesis imperfecta type 1E mondo_mondo_0010521_medgen_c1845053_omim_301200_orphanet_88661 MONDO:MONDO:0010521,MedGen:C1845053,OMIM:301200,Orphanet:88661 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP Alzheimer disease type 1 mondo_mondo_0007088_medgen_c1863052_omim_104300 MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMH Persistent Mullerian duct syndrome mondo_mondo_0009857_medgen_c1849930_omim_261550_orphanet_2856 MONDO:MONDO:0009857,MedGen:C1849930,OMIM:261550,Orphanet:2856 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMELX Amelogenesis imperfecta type 1E mondo_mondo_0010521_medgen_c1845053_omim_301200_orphanet_88661 MONDO:MONDO:0010521,MedGen:C1845053,OMIM:301200,Orphanet:88661 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Juvenile primary lateral sclerosis mondo_mondo_0011663_medgen_c1853396_omim_606353_orphanet_247604 MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353,Orphanet:247604 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 ALMS1-related disorder alms1_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG11 ALG11-congenital disorder of glycosylation mondo_mondo_0013349_medgen_c3150913_omim_613661_orphanet_280071 MONDO:MONDO:0013349,MedGen:C3150913,OMIM:613661,Orphanet:280071 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDOB condition not provided condition_not_provided .|MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS10 Weill-Marchesani syndrome 1 mondo_mondo_0010194_medgen_c4552002_omim_277600_orphanet_3449 MONDO:MONDO:0010194,MedGen:C4552002,OMIM:277600,Orphanet:3449 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 ACVRL1-related disorder acvrl1_related_disorder . 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Atrial septal defect 5 mondo_mondo_0013011_medgen_c2748552_omim_612794_orphanet_1478 MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE Renal tubular dysgenesis human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD9 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Congenital heart defects and skeletal malformations syndrome mondo_mondo_0060532_medgen_c4539857_omim_617602_orphanet_643503 MONDO:MONDO:0060532,MedGen:C4539857,OMIM:617602,Orphanet:643503 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 condition not provided condition_not_provided MedGen:C3661900 15 15 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC9 Syndromic X-linked intellectual disability Raymond type mondo_mondo_0010427_medgen_c3275406_omim_300799 MONDO:MONDO:0010427,MedGen:C3275406,OMIM:300799 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 BBS1-related disorder bbs1_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Meacham syndrome mondo_mondo_0012164_medgen_c1837026_omim_608978_orphanet_3097 MONDO:MONDO:0012164,MedGen:C1837026,OMIM:608978,Orphanet:3097 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS53 Pontocerebellar hypoplasia type 2E mondo_mondo_0014370_medgen_c4014488_omim_615851_orphanet_247198 MONDO:MONDO:0014370,MedGen:C4014488,OMIM:615851,Orphanet:247198 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement mondo_mondo_0010912_medgen_c2748801_omim_600638 MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC19 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT10A condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP11 Odontochondrodysplasia 1 mondo_mondo_0100325_medgen_c5542277_omim_184260_orphanet_166272 MONDO:MONDO:0100325,MedGen:C5542277,OMIM:184260,Orphanet:166272 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREM2 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM3 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Hypertrophic cardiomyopathy 3 mondo_mondo_0007267_medgen_c1861863_omim_115196 MONDO:MONDO:0007267,MedGen:C1861863,OMIM:115196 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Split hand-foot malformation 4 mondo_mondo_0011535_medgen_c1854442_omim_605289_orphanet_2440 MONDO:MONDO:0011535,MedGen:C1854442,OMIM:605289,Orphanet:2440 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Lip and oral cavity carcinoma mondo_mondo_0023644_medgen_c0220641 MONDO:MONDO:0023644,MedGen:C0220641 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS6 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM94 Intellectual developmental disorder with cardiac defects and dysmorphic facies mondo_mondo_0032672_medgen_c5193024_omim_618316_orphanet_562569 MONDO:MONDO:0032672,MedGen:C5193024,OMIM:618316,Orphanet:562569 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TK2 Mitochondrial DNA depletion syndrome mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM5 Acral peeling skin syndrome mondo_mondo_0012345_medgen_c1853354_omim_609796_orphanet_263534 MONDO:MONDO:0012345,MedGen:C1853354,OMIM:609796,Orphanet:263534 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCAP Autosomal recessive limb-girdle muscular dystrophy type 2G mondo_mondo_0011170_medgen_c1866008_omim_601954_orphanet_34514 MONDO:MONDO:0011170,MedGen:C1866008,OMIM:601954,Orphanet:34514 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX6 Spondylocostal dysostosis 5 mondo_mondo_0007389_medgen_c4083048_omim_122600 MONDO:MONDO:0007389,MedGen:C4083048,OMIM:122600 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCE Hypoparathyroidism-retardation-dysmorphism syndrome mondo_mondo_0009426_medgen_c1855840_omim_241410_orphanet_2323 MONDO:MONDO:0009426,MedGen:C1855840,OMIM:241410,Orphanet:2323 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TALDO1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUZ12 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIL condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSR4 SSR4-congenital disorder of glycosylation mondo_mondo_0010490_medgen_c4012395_omim_300934_orphanet_370927 MONDO:MONDO:0010490,MedGen:C4012395,OMIM:300934,Orphanet:370927 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRRM2 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Congenital myasthenic syndrome 18 mondo_mondo_0014590_medgen_c4225364_omim_616330_orphanet_590 MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMOC1 Microphthalmia with limb anomalies mondo_mondo_0008800_medgen_c0599973_omim_206920_orphanet_1106 MONDO:MONDO:0008800,MedGen:C0599973,OMIM:206920,Orphanet:1106 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMN1 Spinal muscular atrophy, type II mondo_mondo_0009673_medgen_c0393538_omim_253550_orphanet_70_orphanet_83418 MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550,Orphanet:70,Orphanet:83418 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Blepharophimosis-impaired intellectual development syndrome mondo_mondo_0859139_medgen_c5443984_omim_619293_orphanet_637013 MONDO:MONDO:0859139,MedGen:C5443984,OMIM:619293,Orphanet:637013 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35D1 Schneckenbecken dysplasia mondo_mondo_0010013_medgen_c0432194_omim_269250_orphanet_3144 MONDO:MONDO:0010013,MedGen:C0432194,OMIM:269250,Orphanet:3144 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A10 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A10 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 Mucopolysaccharidosis, MPS-I-S mondo_mondo_0011760_medgen_c0026708_omim_607016_orphanet_93474 MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016,Orphanet:93474 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 SLC12A3-related disorder slc12a3_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGPL1 Nephrotic syndrome 14 mondo_mondo_0033203_medgen_c4540559_omim_617575_orphanet_506334 MONDO:MONDO:0033203,MedGen:C4540559,OMIM:617575,Orphanet:506334 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA6B Epilepsy, progressive myoclonic, 11 mondo_mondo_0030034_medgen_c5394362_omim_618876 MONDO:MONDO:0030034,MedGen:C5394362,OMIM:618876 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC63 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Mitochondrial complex 2 deficiency, nuclear type 4 mondo_mondo_0030974_medgen_c5543176_omim_619224 MONDO:MONDO:0030974,MedGen:C5543176,OMIM:619224 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Mitochondrial neurogastrointestinal encephalomyopathy mondo_mondo_0017575_medgen_c0872218_orphanet_298 MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A Bronchiectasis with or without elevated sweat chloride 2 mondo_mondo_0013087_medgen_c2751666_omim_613021_orphanet_60033 MONDO:MONDO:0013087,MedGen:C2751666,OMIM:613021,Orphanet:60033 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Primary erythromelalgia mondo_mondo_0007571_medgen_c0014805_omim_133020_orphanet_306577_orphanet_90026 MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A SCN8A-related disorder scn8a_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A SCN4A-related disorder scn4a_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF2 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RXYLT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 mondo_mondo_0014022_medgen_c3554381_omim_615041_orphanet_899 MONDO:MONDO:0014022,MedGen:C3554381,OMIM:615041,Orphanet:899 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Macular degeneration, X-linked atrophic mondo_mondo_0010443_medgen_c3151784_omim_300834_orphanet_1872 MONDO:MONDO:0010443,MedGen:C3151784,OMIM:300834,Orphanet:1872 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF216 Cerebellar ataxia-hypogonadism syndrome mondo_mondo_0008935_medgen_c1859305_omim_212840_orphanet_1173 MONDO:MONDO:0008935,MedGen:C1859305,OMIM:212840,Orphanet:1173 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK1 condition not provided condition_not_provided .|MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIN2 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXANK MHC class II deficiency 2 mondo_mondo_0971013_medgen_c1859535_omim_620815 MONDO:MONDO:0971013,MedGen:C1859535,OMIM:620815 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP2 Martsolf syndrome mondo_mondo_0023910_medgen_c0796037_omim_ps212720_orphanet_1387 MONDO:MONDO:0023910,MedGen:C0796037,OMIM:PS212720,Orphanet:1387 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN23 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity mondo_mondo_0030046_medgen_c5394423_omim_618890 MONDO:MONDO:0030046,MedGen:C5394423,OMIM:618890 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Choroidal dystrophy, central areolar 2 mondo_mondo_0013137_medgen_c2751290_omim_613105_orphanet_75377 MONDO:MONDO:0013137,MedGen:C2751290,OMIM:613105,Orphanet:75377 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPIB condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1D Treacher Collins syndrome 2 mondo_mondo_0013385_medgen_c3150983_omim_613717_orphanet_861 MONDO:MONDO:0013385,MedGen:C3150983,OMIM:613717,Orphanet:861 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKDCC condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Cystic renal disease cystic_renal_disease . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIKFYVE Fleck corneal dystrophy mondo_mondo_0007376_medgen_c1562113_omim_121850_orphanet_98970 MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850,Orphanet:98970 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B Congenital central hypoventilation mondo_mondo_0800031_medgen_c1275808_omim_ps209880_orphanet_661_orphanet_99803 MONDO:MONDO:0800031,MedGen:C1275808,OMIM:PS209880,Orphanet:661,Orphanet:99803 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Peroxisome biogenesis disorder 2A (Zellweger) mondo_mondo_0008954_medgen_c3550273_omim_214110_orphanet_912 MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C Achromatopsia human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX5 Acute lymphoid leukemia human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD1 Primary ciliary dyskinesia 20 mondo_mondo_0014030_medgen_c3540844_omim_615067_orphanet_244 MONDO:MONDO:0014030,MedGen:C3540844,OMIM:615067,Orphanet:244 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5C3A Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency mondo_mondo_0009946_medgen_c1849507_omim_266120_orphanet_35120 MONDO:MONDO:0009946,MedGen:C1849507,OMIM:266120,Orphanet:35120 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSDHL Child syndrome mondo_mondo_0010621_medgen_c0265267_omim_308050_orphanet_139 MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050,Orphanet:139 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL2 Epilepsy, familial focal, with variable foci 2 mondo_mondo_0014924_medgen_c4310709_omim_617116 MONDO:MONDO:0014924,MedGen:C4310709,OMIM:617116 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy mondo_mondo_0007432_medgen_c0751587_omim_ps125310 MONDO:MONDO:0007432,MedGen:C0751587,OMIM:PS125310 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOD2 Blau syndrome mondo_mondo_0008523_medgen_c5201146_omim_186580_orphanet_90340 MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 Mitochondrial complex I deficiency, nuclear type 10 mondo_mondo_0032616_medgen_c4748768_omim_618233 MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH MUTYH-related disorder mutyh_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT METHYLMALONIC ACIDURIA, mut(0) TYPE medgen_c1855115 MedGen:C1855115 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICU1 Proximal myopathy with extrapyramidal signs mondo_mondo_0014300_medgen_c3810285_omim_615673_orphanet_401768 MONDO:MONDO:0014300,MedGen:C3810285,OMIM:615673,Orphanet:401768 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFRP Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED16 Guillouet-Gordon syndrome mondo_mondo_0979227_medgen_c6012729_omim_621220 MONDO:MONDO:0979227,MedGen:C6012729,OMIM:621220 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDH2 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAT1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK8IP3 Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA mondo_mondo_0032755_medgen_c5193102_omim_618443 MONDO:MONDO:0032755,MedGen:C5193102,OMIM:618443 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAG Hereditary spastic paraplegia 75 mondo_mondo_0014729_medgen_c4225250_omim_616680_orphanet_459056 MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF Cataract 21 multiple types mondo_mondo_0012437_medgen_c1857768_omim_610202_orphanet_91492 MONDO:MONDO:0012437,MedGen:C1857768,OMIM:610202,Orphanet:91492 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LONP1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Restrictive dermopathy 2 mondo_mondo_0030781_medgen_c5676942_omim_619793 MONDO:MONDO:0030781,MedGen:C5676942,OMIM:619793 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI4 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect mondo_mondo_0060486_medgen_c4479539_omim_617468 MONDO:MONDO:0060486,MedGen:C4479539,OMIM:617468 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCAT LCAT deficiency mondo_mondo_0018999_medgen_c5779633_orphanet_650_orphanet_79293 MONDO:MONDO:0018999,MedGen:C5779633,Orphanet:650,Orphanet:79293 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM L1CAM-related disorder l1cam_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 Cerebral cavernous malformation 1 mondo_mondo_0020724_medgen_c1366911 MONDO:MONDO:0020724,MedGen:C1366911 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Cardiofaciocutaneous syndrome 2 mondo_mondo_0014112_medgen_c3809005_omim_615278_orphanet_1340 MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF1 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK3 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RA Immunodeficiency due to CD25 deficiency mondo_mondo_0011664_medgen_c1853392_omim_606367_orphanet_169100 MONDO:MONDO:0011664,MedGen:C1853392,OMIM:606367,Orphanet:169100 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Ectodermal dysplasia and immunodeficiency 1 mondo_mondo_0020740_medgen_c1846008_omim_300291_orphanet_238468_orphanet_98813 MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2 Silver-Russell syndrome 3 mondo_mondo_0014663_medgen_c4225307_omim_616489 MONDO:MONDO:0014663,MedGen:C4225307,OMIM:616489 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B10 HSD10 mitochondrial disease mondo_mondo_0010327_medgen_c3266731_omim_300438_orphanet_391417_orphanet_85295 MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HR condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA1 Chronic progressive multiple sclerosis mondo_mondo_0005284_medgen_c0393665 MONDO:MONDO:0005284,MedGen:C0393665 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young mondo_mondo_0014458_medgen_c4014962_omim_616026_orphanet_93111 MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HELLS condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 Generalized epilepsy with febrile seizures plus, type 10 mondo_mondo_0032777_medgen_c5193120_omim_618482 MONDO:MONDO:0032777,MedGen:C5193120,OMIM:618482 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS2 Perrault syndrome 2 mondo_mondo_0013972_medgen_c3554105_omim_614926_orphanet_2855_orphanet_642976 MONDO:MONDO:0013972,MedGen:C3554105,OMIM:614926,Orphanet:2855,Orphanet:642976 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYS2 condition not provided condition_not_provided .|MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Nonarteritic anterior ischemic optic neuropathy, susceptibility to mondo_mondo_0009789_medgen_c1847711_omim_258660 MONDO:MONDO:0009789,MedGen:C1847711,OMIM:258660 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPA Alacrima, achalasia, and intellectual disability syndrome mondo_mondo_0014219_medgen_c4706563_omim_615510_orphanet_869 MONDO:MONDO:0014219,MedGen:C4706563,OMIM:615510,Orphanet:869 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GM2A Tay-Sachs disease, variant AB mondo_mondo_0010099_medgen_c0268275_omim_272750_orphanet_309246 MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750,Orphanet:309246 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Monogenic hearing loss monogenic_hearing_loss . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGCX Vitamin K-dependent clotting factors, combined deficiency of, type 1 mondo_mondo_0010187_medgen_c1848534_omim_277450_orphanet_98434 MONDO:MONDO:0010187,MedGen:C1848534,OMIM:277450,Orphanet:98434 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF2 Telangiectasia, hereditary hemorrhagic, type 5 mondo_mondo_0014217_medgen_c3809710_omim_615506_orphanet_774 MONDO:MONDO:0014217,MedGen:C3809710,OMIM:615506,Orphanet:774 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Atrioventricular septal defect 5 mondo_mondo_0013769_medgen_c3280939_omim_614474 MONDO:MONDO:0013769,MedGen:C3280939,OMIM:614474 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAREM2 Mitochondrial trifunctional protein deficiency 1 mondo_mondo_0958181_medgen_cn376812_omim_609015 MONDO:MONDO:0958181,MedGen:CN376812,OMIM:609015 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Developmental and epileptic encephalopathy, 74 mondo_mondo_0032725_medgen_c5193074_omim_618396 MONDO:MONDO:0032725,MedGen:C5193074,OMIM:618396 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 Exudative vitreoretinopathy 1 mondo_mondo_0007589_medgen_c1851402_omim_133780_orphanet_891_orphanet_90050 MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMPD4 Intellectual disability, X-linked 104 mondo_mondo_0010509_medgen_c4310817_omim_300983 MONDO:MONDO:0010509,MedGen:C4310817,OMIM:300983 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 Premature ovarian failure 3 mondo_mondo_0012169_medgen_c1837008_omim_608996 MONDO:MONDO:0012169,MedGen:C1837008,OMIM:608996 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Rett syndrome mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FN1 Spondylometaphyseal dysplasia - Sutcliffe type mondo_mondo_0008479_medgen_c0432221_omim_184255_orphanet_93315 MONDO:MONDO:0008479,MedGen:C0432221,OMIM:184255,Orphanet:93315 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR2 Fowler syndrome mondo_mondo_0009168_medgen_c1856972_omim_225790_orphanet_221126 MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790,Orphanet:221126 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Thanatophoric dysplasia, type 2 mondo_mondo_0008547_medgen_c1300257_omim_187601_orphanet_2655_orphanet_93274 MONDO:MONDO:0008547,MedGen:C1300257,OMIM:187601,Orphanet:2655,Orphanet:93274 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Muenke syndrome mondo_mondo_0011274_medgen_c1864436_omim_602849_orphanet_53271 MONDO:MONDO:0011274,MedGen:C1864436,OMIM:602849,Orphanet:53271 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Crouzon syndrome-acanthosis nigricans syndrome mondo_mondo_0012833_medgen_c2677099_omim_612247_orphanet_93262 MONDO:MONDO:0012833,MedGen:C2677099,OMIM:612247,Orphanet:93262 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Beare-Stevenson cutis gyrata syndrome mondo_mondo_0007412_medgen_c1852406_omim_123790_orphanet_1555 MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790,Orphanet:1555 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis mondo_mondo_0020667_medgen_c2936791_omim_207410_orphanet_596008_orphanet_83 MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410,Orphanet:596008,Orphanet:83 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Osteoglophonic dysplasia mondo_mondo_0008150_medgen_c0432283_omim_166250_orphanet_2645 MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orphanet:2645 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 FGFR1-related disorder fgfr1_related_disorder MedGen:CN380097 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASTKD2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS FAS-related autoimmune lymphoproliferative syndrome medgen_c1866119 MedGen:C1866119 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Spermatogenic failure 28 mondo_mondo_0054732_medgen_c4748117_omim_618086 MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Premature ovarian failure 15 mondo_mondo_0054862_medgen_c4748170_omim_618096 MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 F9-related disorder f9_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F10 Factor X deficiency mondo_mondo_0002247_mesh_d005171_medgen_c0015519 MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Thrombocytopenia 5 mondo_mondo_0014536_medgen_c4015537_omim_616216 MONDO:MONDO:0014536,MedGen:C4015537,OMIM:616216 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 Cockayne syndrome mondo_mondo_0016006_medgen_c0009207_orphanet_191 MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 ERCC6-related disorder ercc6_related_disorder MedGen:CN239385 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 ERCC2-related disorder ercc2_related_disorder MedGen:CN239291 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 EP300-related disorder ep300_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Aniridia 1 mondo_mondo_0024507_medgen_c0344542_omim_106210_orphanet_250923 MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGLN1 Erythrocytosis, familial, 3 mondo_mondo_0012353_medgen_c1853286_omim_609820_orphanet_247511 MONDO:MONDO:0012353,MedGen:C1853286,OMIM:609820,Orphanet:247511 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON Microcephaly, short stature, and limb abnormalities mondo_mondo_0060533_medgen_c4539873_omim_617604_orphanet_572773 MONDO:MONDO:0060533,MedGen:C4539873,OMIM:617604,Orphanet:572773 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1 mondo_mondo_0009454_medgen_c4551557_omim_242860_orphanet_2268 MONDO:MONDO:0009454,MedGen:C4551557,OMIM:242860,Orphanet:2268 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB6 Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) mondo_mondo_0021018_medgen_c4721885_omim_603511_orphanet_34516 MONDO:MONDO:0021018,MedGen:C4721885,OMIM:603511,Orphanet:34516 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF4 Primary ciliary dyskinesia 25 mondo_mondo_0014203_medgen_c3809641_omim_615482_orphanet_244 MONDO:MONDO:0014203,MedGen:C3809641,OMIM:615482,Orphanet:244 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF3 Primary ciliary dyskinesia 2 mondo_mondo_0011718_medgen_c1847554_omim_606763_orphanet_244 MONDO:MONDO:0011718,MedGen:C1847554,OMIM:606763,Orphanet:244 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMP1 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 Intellectual disability-epilepsy-extrapyramidal syndrome mondo_mondo_0014952_medgen_c4310683_omim_617171_orphanet_468620 MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171,Orphanet:468620 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4F22 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL7 3-M syndrome mondo_mondo_0007477_medgen_c1848862_omim_ps273750_orphanet_2616 MONDO:MONDO:0007477,MedGen:C1848862,OMIM:PS273750,Orphanet:2616 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 CTNNB1-related disorder ctnnb1_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA1 Cataract 10 multiple types mondo_mondo_0010948_medgen_c1833229_omim_600881_orphanet_91492 MONDO:MONDO:0010948,MedGen:C1833229,OMIM:600881,Orphanet:91492 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 CRB1-related disorder crb1_related_disorder . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPS1 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAMD8 Anterior segment dysgenesis 8 mondo_mondo_0015017_medgen_c4310622_omim_617319_orphanet_519388 MONDO:MONDO:0015017,MedGen:C4310622,OMIM:617319,Orphanet:519388 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORO1A Severe combined immunodeficiency due to CORO1A deficiency mondo_mondo_0014168_medgen_c3809383_omim_615401_orphanet_228003 MONDO:MONDO:0014168,MedGen:C3809383,OMIM:615401,Orphanet:228003 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLQ condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 Epiphyseal dysplasia, multiple, 2 mondo_mondo_0010844_medgen_c1838429_omim_600204 MONDO:MONDO:0010844,MedGen:C1838429,OMIM:600204 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Hematuria human_phenotype_ontology_hp_0000790_medgen_c0018965 Human_Phenotype_Ontology:HP:0000790,MedGen:C0018965 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Junctional epidermolysis bullosa, non-Herlitz type mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Amelogenesis imperfecta type 1A mondo_mondo_0007094_medgen_c4011403_omim_104530_orphanet_88661 MONDO:MONDO:0007094,MedGen:C4011403,OMIM:104530,Orphanet:88661 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP1 Neuropathy, congenital hypomyelinating, 3 mondo_mondo_0020766_medgen_c4748608_omim_618186 MONDO:MONDO:0020766,MedGen:C4748608,OMIM:618186 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN5 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN16 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST14 Ehlers-Danlos syndrome, musculocontractural type 1 mondo_mondo_0020681_medgen_cn295219_omim_601776 MONDO:MONDO:0020681,MedGen:CN295219,OMIM:601776 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRDL1 Megalocornea human_phenotype_ontology_hp_0000485_human_phenotype_ontology_hp_0007660_mondo_mondo_0009576_medgen_c5574682_omim_249300 Human_Phenotype_Ontology:HP:0000485,Human_Phenotype_Ontology:HP:0007660,MONDO:MONDO:0009576,MedGen:C5574682,OMIM:249300 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1C condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC45 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD27 Lymphoproliferative syndrome 2 mondo_mondo_0014054_medgen_c3554540_omim_615122_orphanet_238505 MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1R Ehlers-Danlos syndrome, periodontal type 2 mondo_mondo_0014954_medgen_c4310681_omim_617174 MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QTNF5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Autosomal recessive nonsyndromic hearing loss 12 mondo_mondo_0011067_medgen_c1832394_omim_601386_orphanet_90636 MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Hereditary spastic paraplegia 17 mondo_mondo_0010043_medgen_c2931276_omim_270685_orphanet_100998 MONDO:MONDO:0010043,MedGen:C2931276,OMIM:270685,Orphanet:100998 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1A Polyposis syndrome, hereditary mixed, 2 mondo_mondo_0012405_medgen_c1864730_omim_610069_orphanet_157794 MONDO:MONDO:0012405,MedGen:C1864730,OMIM:610069,Orphanet:157794 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALNT1 Hereditary spastic paraplegia 26 mondo_mondo_0012213_medgen_c1836632_omim_609195_orphanet_101006 MONDO:MONDO:0012213,MedGen:C1836632,OMIM:609195,Orphanet:101006 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVP condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B1 Progressive familial intrahepatic cholestasis mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A2 condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Autosomal recessive primary microcephaly mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 Familial apolipoprotein C-II deficiency mondo_mondo_0008810_medgen_c1720779_omim_207750_orphanet_309020_orphanet_444490 MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750,Orphanet:309020,Orphanet:444490 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMH condition not provided condition_not_provided MedGen:C3661900 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 ALDH18A1-related de Barsy syndrome mondo_mondo_0009053_medgen_c5234852_omim_219150_orphanet_2962_orphanet_35664 MONDO:MONDO:0009053,MedGen:C5234852,OMIM:219150,Orphanet:2962,Orphanet:35664 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL2 Geleophysic dysplasia 1 mondo_mondo_0009269_medgen_c3278147_omim_231050_orphanet_2623 MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM9 Cone-rod dystrophy 9 mondo_mondo_0013002_medgen_c1423873_omim_612775_orphanet_1872 MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Permanent neonatal diabetes mellitus mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 14 14 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF699 DEGCAGS syndrome mondo_mondo_0859181_medgen_c5561967_omim_619488 MONDO:MONDO:0859181,MedGen:C5561967,OMIM:619488 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF469 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WHRN Autosomal recessive nonsyndromic hearing loss 31 mondo_mondo_0011767_medgen_c1846839_omim_607084_orphanet_90636 MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VIPAS39 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCHL1 Spastic paraplegia 79A, autosomal dominant, with ataxia mondo_mondo_0859363_medgen_c5774300_omim_620221 MONDO:MONDO:0859363,MedGen:C5774300,OMIM:620221 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE2A Syndromic X-linked intellectual disability Nascimento type mondo_mondo_0010461_medgen_c3275464_omim_300860_orphanet_163956 MONDO:MONDO:0010461,MedGen:C3275464,OMIM:300860,Orphanet:163956 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN TTN-related myopathy mondo_mondo_0100175_medgen_cn294812 MONDO:MONDO:0100175,MedGen:CN294812 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR Tooth agenesis, selective, 10 mondo_mondo_0859339_medgen_c5774277_omim_620173 MONDO:MONDO:0859339,MedGen:C5774277,OMIM:620173 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Pontocerebellar hypoplasia type 5 mondo_mondo_0012438_medgen_c1857762_omim_610204_orphanet_166068 MONDO:MONDO:0012438,MedGen:C1857762,OMIM:610204,Orphanet:166068 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV6 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO TRIO-related disorder trio_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRDN Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF7 Cardiac, facial, and digital anomalies with developmental delay mondo_mondo_0032572_medgen_c4748484_omim_618164 MONDO:MONDO:0032572,MedGen:C4748484,OMIM:618164 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency evans_syndrome_immunodeficiency_and_premature_immunosenescence_associated_with_tripeptidyl_peptidase_ii_deficiency MedGen:CN231723 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOE1 condition not provided condition_not_provided .|MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Cardiomyopathy, familial restrictive, 1 mondo_mondo_0007270_medgen_c1861861_omim_115210_orphanet_75249 MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF9 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM147 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly mondo_mondo_0859298_medgen_c5774232_omim_620075_orphanet_698085 MONDO:MONDO:0859298,MedGen:C5774232,OMIM:620075,Orphanet:698085 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126B condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM107 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP1 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Loeys-Dietz syndrome mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TG Congenital hypothyroidism human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET3 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 Osteopetrosis human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TALDO1 Deficiency of transaldolase mondo_mondo_0011624_medgen_c1291329_omim_606003_orphanet_101028 MONDO:MONDO:0011624,MedGen:C1291329,OMIM:606003,Orphanet:101028 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC STRC-related disorder strc_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Premature ovarian failure 8 mondo_mondo_0014321_medgen_c3810367_omim_615723 MONDO:MONDO:0014321,MedGen:C3810367,OMIM:615723 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG8 Acromesomelic dysplasia 1, Maroteaux type mondo_mondo_0011275_medgen_c1864356_omim_602875_orphanet_40 MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875,Orphanet:40 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 SMPD1-related disorder smpd1_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Rhabdoid tumor predisposition syndrome 1 mondo_mondo_0012252_medgen_c1836327_omim_609322_orphanet_231108_orphanet_69077 MONDO:MONDO:0012252,MedGen:C1836327,OMIM:609322,Orphanet:231108,Orphanet:69077 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A4 Autosomal recessive proximal renal tubular acidosis mondo_mondo_0011422_medgen_c1970309_omim_604278_orphanet_93607 MONDO:MONDO:0011422,MedGen:C1970309,OMIM:604278,Orphanet:93607 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Hereditary cryohydrocytosis with reduced stomatin mondo_mondo_0012143_medgen_c1837206_omim_608885_orphanet_168577 MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885,Orphanet:168577 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A46 Pontocerebellar hypoplasia, type 1E mondo_mondo_0030260_medgen_c5543328_omim_619303 MONDO:MONDO:0030260,MedGen:C5543328,OMIM:619303 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A12 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPC Surfactant metabolism dysfunction, pulmonary, 2 mondo_mondo_0024465_medgen_c1970470_omim_610913 MONDO:MONDO:0024465,MedGen:C1970470,OMIM:610913 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Inherited phaeochromocytoma and paraganglioma excluding NF1 inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Brugada syndrome (shorter-than-normal QT interval) brugada_syndrome_shorter_than_normal_qt_interval . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCARF2 Van den Ende-Gupta syndrome mondo_mondo_0010959_medgen_c1833136_omim_600920_orphanet_2460 MONDO:MONDO:0010959,MedGen:C1833136,OMIM:600920,Orphanet:2460 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM2B RRM2B-related mitochondrial disease rrm2b_related_mitochondrial_disease MedGen:CN187502 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL11 Diamond-Blackfan anemia 7 mondo_mondo_0012938_medgen_c2675512_omim_612562_orphanet_124 MONDO:MONDO:0012938,MedGen:C2675512,OMIM:612562,Orphanet:124 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness medgen_c2749137_omim_300455_orphanet_247522 MedGen:C2749137,OMIM:300455,Orphanet:247522 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX6 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome mondo_mondo_0017400_medgen_c2748662_omim_615710_orphanet_293864 MONDO:MONDO:0017400,MedGen:C2748662,OMIM:615710,Orphanet:293864 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REST condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RD3 Leber congenital amaurosis 12 mondo_mondo_0012525_medgen_c1857743_omim_610612_orphanet_65 MONDO:MONDO:0012525,MedGen:C1857743,OMIM:610612,Orphanet:65 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASGRP2 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS1 Hypomyelinating leukodystrophy 9 mondo_mondo_0014506_medgen_c4015323_omim_616140_orphanet_438114 MONDO:MONDO:0014506,MedGen:C4015323,OMIM:616140,Orphanet:438114 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C RAD51C-related disorder rad51c_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP2 condition not provided condition_not_provided .|MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR2 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCHD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 PTCH1-related disorder ptch1_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRUNE1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP Huntington disease-like 1 mondo_mondo_0011299_medgen_c1864112_omim_603218_orphanet_157941 MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218,Orphanet:157941 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1B Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM12 Congenital insensitivity to pain-hypohidrosis syndrome mondo_mondo_0014662_medgen_c4225308_omim_616488_orphanet_478664 MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488,Orphanet:478664 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R1A condition not provided condition_not_provided .|MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F3 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A POLR3A-related disorder mondo_mondo_0700276_medgen_cn378587 MONDO:MONDO:0700276,MedGen:CN378587 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Mitochondrial DNA depletion syndrome 1 mondo_mondo_0011283_medgen_c4551995_omim_603041_orphanet_298 MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1B Cone-rod dystrophy 20 mondo_mondo_0014427_medgen_c4014856_omim_615973_orphanet_1872 MONDO:MONDO:0014427,MedGen:C4014856,OMIM:615973,Orphanet:1872 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPO condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA1 Congenital ichthyosiform erythroderma human_phenotype_ontology_hp_0007431_human_phenotype_ontology_hp_0007478_human_phenotype_ontology_hp_0007484_medgen_c0079583 Human_Phenotype_Ontology:HP:0007431,Human_Phenotype_Ontology:HP:0007478,Human_Phenotype_Ontology:HP:0007484,MedGen:C0079583 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Dejerine-Sottas disease mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG Plasminogen deficiency, type I mondo_mondo_0009009_medgen_c1968804_omim_217090_orphanet_722 MONDO:MONDO:0009009,MedGen:C1968804,OMIM:217090,Orphanet:722 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD1 Cardiac valvular defect, developmental mondo_mondo_0008913_medgen_c5774175_omim_212093 MONDO:MONDO:0008913,MedGen:C5774175,OMIM:212093 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Cowden syndrome 5 mondo_mondo_0014047_medgen_c3554518_omim_615108_orphanet_201 MONDO:MONDO:0014047,MedGen:C3554518,OMIM:615108,Orphanet:201 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Gordon syndrome mondo_mondo_0007252_medgen_c0220666_omim_114300_orphanet_376 MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300,Orphanet:376 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B Haddad syndrome mondo_mondo_0020493_medgen_c1859049_orphanet_99803 MONDO:MONDO:0020493,MedGen:C1859049,Orphanet:99803 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease mondo_mondo_0800026_medgen_c5562075_omim_209880_orphanet_661 MONDO:MONDO:0800026,MedGen:C5562075,OMIM:209880,Orphanet:661 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGK1 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency mondo_mondo_0010392_medgen_c1970848_omim_300653_orphanet_713 MONDO:MONDO:0010392,MedGen:C1970848,OMIM:300653,Orphanet:713 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP2 Hyperphosphatasia with intellectual disability syndrome 3 mondo_mondo_0013628_medgen_c3280153_omim_614207_orphanet_247262 MONDO:MONDO:0013628,MedGen:C3280153,OMIM:614207,Orphanet:247262 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX12 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C Achromatopsia 5 mondo_mondo_0800196_medgen_c2751309 MONDO:MONDO:0800196,MedGen:C2751309 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK9 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Waardenburg syndrome type 3 mondo_mondo_0007862_medgen_c0079661_omim_148820_orphanet_3440_orphanet_896 MONDO:MONDO:0007862,MedGen:C0079661,OMIM:148820,Orphanet:3440,Orphanet:896 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PATL2 Oocyte maturation defect 4 mondo_mondo_0021575_medgen_c4540284_omim_617743 MONDO:MONDO:0021575,MedGen:C4540284,OMIM:617743 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Spondyloepiphyseal dysplasia tarda mondo_mondo_0019667_medgen_cn033239_orphanet_93284 MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Simpson-Golabi-Behmel syndrome type 2 mondo_mondo_0010265_medgen_c1846175_omim_300209_orphanet_79022 MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT Hyperornithinemia human_phenotype_ontology_hp_0012026_medgen_c0599035 Human_Phenotype_Ontology:HP:0012026,MedGen:C0599035 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP188 Sandestig-stefanova syndrome mondo_mondo_0032926_medgen_c5394118_omim_618804 MONDO:MONDO:0032926,MedGen:C5394118,OMIM:618804 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NODAL Heterotaxy, visceral, 5, autosomal mondo_mondo_0700112_medgen_c3495537_omim_270100_orphanet_450 MONDO:MONDO:0700112,MedGen:C3495537,OMIM:270100,Orphanet:450 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA Chromosome 1p32-p31 deletion syndrome mondo_mondo_0013396_medgen_c4707828_orphanet_401986 MONDO:MONDO:0013396,MedGen:C4707828,Orphanet:401986 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 Amyotrophic lateral sclerosis, susceptibility to, 24 mondo_mondo_0054750_medgen_c4693523_omim_617892 MONDO:MONDO:0054750,MedGen:C4693523,OMIM:617892 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV2 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS4 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF2 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEAL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 Contractures, pterygia, and variable skeletal fusions syndrome 1B mondo_mondo_0020746_medgen_c5193114_omim_618469 MONDO:MONDO:0020746,MedGen:C5193114,OMIM:618469 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR Combined oxidative phosphorylation defect type 7 mondo_mondo_0013306_medgen_c3150801_omim_613559_orphanet_254930 MONDO:MONDO:0013306,MedGen:C3150801,OMIM:613559,Orphanet:254930 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Isolated focal cortical dysplasia type II human_phenotype_ontology_hp_0032051_mondo_mondo_0011818_medgen_c1846385_omim_607341_orphanet_268994 Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZL2 Hearing loss, autosomal recessive 111 mondo_mondo_0029142_medgen_c4748374_omim_618145 MONDO:MONDO:0029142,MedGen:C4748374,OMIM:618145 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Charcot-Marie-Tooth disease type 2J mondo_mondo_0011903_medgen_c1843153_omim_607736_orphanet_99943 MONDO:MONDO:0011903,MedGen:C1843153,OMIM:607736,Orphanet:99943 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Charcot-Marie-Tooth disease type 2I mondo_mondo_0011889_medgen_c3888087_omim_607677_orphanet_99942 MONDO:MONDO:0011889,MedGen:C3888087,OMIM:607677,Orphanet:99942 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH3 Colorectal cancer, hereditary nonpolyposis, type 7 mondo_mondo_0013725_medgen_c1858380_omim_614385_orphanet_144 MONDO:MONDO:0013725,MedGen:C1858380,OMIM:614385,Orphanet:144 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 MLH1-related disorder mlh1_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS MKKS-related disorder mkks_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFRP Nanophthalmos 2 mondo_mondo_0012299_medgen_c1836006_omim_609549_orphanet_35612 MONDO:MONDO:0012299,MedGen:C1836006,OMIM:609549,Orphanet:35612 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF10 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED23 Intellectual disability, autosomal recessive 18 mondo_mondo_0013651_medgen_c3280265_omim_614249_orphanet_88616 MONDO:MONDO:0013651,MedGen:C3280265,OMIM:614249,Orphanet:88616 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L MED13L-related disorder med13l_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R Obesity due to melanocortin 4 receptor deficiency mondo_mondo_0019115_medgen_c4273958_orphanet_71529 MONDO:MONDO:0019115,MedGen:C4273958,Orphanet:71529 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations mondo_mondo_0032648_medgen_c4748927_omim_618273 MONDO:MONDO:0032648,MedGen:C4748927,OMIM:618273 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Cardiofaciocutaneous syndrome 4 mondo_mondo_0014114_medgen_c3809007_omim_615280_orphanet_1340 MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280,Orphanet:1340 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB Multicentric carpo-tarsal osteolysis with or without nephropathy mondo_mondo_0008152_medgen_c2674705_omim_166300_orphanet_2774 MONDO:MONDO:0008152,MedGen:C2674705,OMIM:166300,Orphanet:2774 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MADD Deeah syndrome mondo_mondo_0033561_medgen_c5436579_omim_619004_orphanet_686495 MONDO:MONDO:0033561,MedGen:C5436579,OMIM:619004,Orphanet:686495 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA LMNA-related disorder lmna_related_disorder MedGen:CN380145 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG4 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDHA Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency mondo_mondo_0013047_medgen_c2931743_omim_612933_orphanet_284426 MONDO:MONDO:0013047,MedGen:C2931743,OMIM:612933,Orphanet:284426 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCT Congenital lactase deficiency mondo_mondo_0009115_medgen_c0268179_omim_223000_orphanet_53690 MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 LAMA2-related disorder lama2_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT9 Epidermolytic palmoplantar keratoderma, 1 mondo_mondo_0007758_medgen_cn377798_omim_144200_orphanet_2199 MONDO:MONDO:0007758,MedGen:CN377798,OMIM:144200,Orphanet:2199 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT17 Pachyonychia congenita 2 mondo_mondo_0008174_medgen_c1721007_omim_167210_orphanet_2309 MONDO:MONDO:0008174,MedGen:C1721007,OMIM:167210,Orphanet:2309 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive mondo_mondo_0010976_medgen_c3715082_omim_601001_orphanet_89838 MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1C condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF14 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Diabetes mellitus, permanent neonatal 2 mondo_mondo_0030087_medgen_c5394296_omim_618856 MONDO:MONDO:0030087,MedGen:C5394296,OMIM:618856 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA3 KCNA3-associated developmental and epileptic encephalopathy kcna3_associated_developmental_and_epileptic_encephalopathy . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAM3 Porencephaly-microcephaly-bilateral congenital cataract syndrome mondo_mondo_0013394_medgen_c3151000_omim_613730_orphanet_306547 MONDO:MONDO:0013394,MedGen:C3151000,OMIM:613730,Orphanet:306547 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITSN1 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B Platelet-type bleeding disorder 16 mondo_mondo_0008552_medgen_c5442010_omim_187800_orphanet_140957 MONDO:MONDO:0008552,MedGen:C5442010,OMIM:187800,Orphanet:140957 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 IRF6-related condition mondo_mondo_1040010_medgen_cn378148 MONDO:MONDO:1040010,MedGen:CN378148 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INVS condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E INPP5E-related disorder inpp5e_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B7 Congenital bile acid synthesis defect 1 mondo_mondo_0011906_medgen_c1843116_omim_607765_orphanet_79301 MONDO:MONDO:0011906,MedGen:C1843116,OMIM:607765,Orphanet:79301 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPDL condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B HNF1B-related disorder hnf1b_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIBCH condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HESX1 Septo-optic dysplasia sequence human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation mondo_mondo_0014863_medgen_c4310766_omim_617011_orphanet_457359 MONDO:MONDO:0014863,MedGen:C4310766,OMIM:617011,Orphanet:457359 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN4 Brugada syndrome 8 mondo_mondo_0013148_medgen_c2751083_omim_613123_orphanet_130 MONDO:MONDO:0013148,MedGen:C2751083,OMIM:613123,Orphanet:130 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPNMB Amyloidosis, primary localized cutaneous, 3 mondo_mondo_0054765_medgen_c4554421_omim_617920 MONDO:MONDO:0054765,MedGen:C4554421,OMIM:617920 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPD1 Transient infantile hypertriglyceridemia and hepatosteatosis mondo_mondo_0013771_medgen_c3280953_omim_614480_orphanet_300293 MONDO:MONDO:0013771,MedGen:C3280953,OMIM:614480,Orphanet:300293 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNS Sanfilippo syndrome mondo_mondo_0018937_medgen_c0026706_orphanet_581 MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCM2 Hypoparathyroidism, familial isolated, 2 mondo_mondo_0020798_medgen_c5394383_omim_618883 MONDO:MONDO:0020798,MedGen:C5394383,OMIM:618883 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 GBE1-related disorder gbe1_related_disorder MedGen:CN239402 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia mondo_mondo_0010308_medgen_c3550789_omim_300367_orphanet_67044 MONDO:MONDO:0010308,MedGen:C3550789,OMIM:300367,Orphanet:67044 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALT GALT-related disorder galt_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA2 Developmental and epileptic encephalopathy, 78 mondo_mondo_0032812_medgen_c5231409_omim_618557 MONDO:MONDO:0032812,MedGen:C5231409,OMIM:618557 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Glycogen storage disease due to acid maltase deficiency, late-onset mondo_mondo_0018485_medgen_c0342753_omim_621314_orphanet_420429 MONDO:MONDO:0018485,MedGen:C0342753,OMIM:621314,Orphanet:420429 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXF1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN FLCN-related disorder flcn_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome mondo_mondo_0014658_medgen_c2674173_omim_616482_orphanet_85165 MONDO:MONDO:0014658,MedGen:C2674173,OMIM:616482,Orphanet:85165 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Familial scaphocephaly syndrome, McGillivray type mondo_mondo_0012307_medgen_c1865070_omim_609579_orphanet_168624 MONDO:MONDO:0012307,MedGen:C1865070,OMIM:609579,Orphanet:168624 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Bent bone dysplasia syndrome 1 mondo_mondo_0013815_medgen_c3281247_omim_614592_orphanet_313855 MONDO:MONDO:0013815,MedGen:C3281247,OMIM:614592,Orphanet:313855 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCHO1 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 Developmental delay, hypotonia, and impaired language mondo_mondo_0859280_medgen_c5774202_omim_620012 MONDO:MONDO:0859280,MedGen:C5774202,OMIM:620012 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2 mondo_mondo_0014454_medgen_c4014939_omim_616006_orphanet_2136 MONDO:MONDO:0014454,MedGen:C4014939,OMIM:616006,Orphanet:2136 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20A condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Warfarin sensitivity, X-linked medgen_c5393318_omim_301052 MedGen:C5393318,OMIM:301052 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT2 Seizures-scoliosis-macrocephaly syndrome mondo_mondo_0014731_medgen_c4225248_omim_616682_orphanet_466926 MONDO:MONDO:0014731,MedGen:C4225248,OMIM:616682,Orphanet:466926 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN2 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA2 Cataract 6 multiple types mondo_mondo_0007288_medgen_c1861825_omim_116600_orphanet_91492 MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600,Orphanet:91492 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Autosomal dominant Robinow syndrome 3 mondo_mondo_0014819_medgen_c4225164_omim_616894_orphanet_3107_orphanet_97360 MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894,Orphanet:3107,Orphanet:97360 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP DSP-related disorder dsp_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG4 Hypotrichosis 6 mondo_mondo_0011932_medgen_c1842839_omim_607903_orphanet_55654 MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Autosomal dominant centronuclear myopathy mondo_mondo_0008048_mesh_d020914_medgen_c4551952_omim_160150_orphanet_169189 MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNASE1L3 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH17 Spermatogenic failure 39 mondo_mondo_0032845_medgen_c5231438_omim_618643 MONDO:MONDO:0032845,MedGen:C5231438,OMIM:618643 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 Primary ciliary dyskinesia 17 mondo_mondo_0013854_medgen_c3542550_omim_614679_orphanet_244 MONDO:MONDO:0013854,MedGen:C3542550,OMIM:614679,Orphanet:244 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF1 Primary ciliary dyskinesia 13 mondo_mondo_0013174_medgen_c2750790_omim_613193_orphanet_244 MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Dilated cardiomyopathy 1I mondo_mondo_0011482_medgen_c1858154_omim_604765_orphanet_154 MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765,Orphanet:154 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Pseudohypoaldosteronism type 2A mondo_mondo_0007772_medgen_c1840389_omim_145260_orphanet_757_orphanet_88938 MONDO:MONDO:0007772,MedGen:C1840389,OMIM:145260,Orphanet:757,Orphanet:88938 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN CUBN-related disorder cubn_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 Patterned macular dystrophy 2 mondo_mondo_0012162_medgen_c1837029_omim_608970_orphanet_99001 MONDO:MONDO:0012162,MedGen:C1837029,OMIM:608970,Orphanet:99001 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTCF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Unverricht-Lundborg syndrome mondo_mondo_0009698_medgen_c0751785_omim_254800_orphanet_308 MONDO:MONDO:0009698,MedGen:C0751785,OMIM:254800,Orphanet:308 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB2 Cataract 3 multiple types mondo_mondo_0011104_medgen_c1832175_omim_601547_orphanet_1377 MONDO:MONDO:0011104,MedGen:C1832175,OMIM:601547,Orphanet:1377 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX20 Mitochondrial complex IV deficiency, nuclear type 11 mondo_mondo_0033645_medgen_c5436694_omim_619054 MONDO:MONDO:0033645,MedGen:C5436694,OMIM:619054 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ9 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome mondo_mondo_0013840_medgen_c3553374_omim_614654_orphanet_319678 MONDO:MONDO:0013840,MedGen:C3553374,OMIM:614654,Orphanet:319678 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ6 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ2 Multiple system atrophy 1, susceptibility to mondo_mondo_0020715_medgen_c3714927_omim_146500 MONDO:MONDO:0020715,MedGen:C3714927,OMIM:146500 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Hematuria human_phenotype_ontology_hp_0000790_medgen_c0018965 Human_Phenotype_Ontology:HP:0000790,MedGen:C0018965 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 COL3A1-related disorder col3a1_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Ehlers-Danlos syndrome, classic type mondo_mondo_0007522_medgen_c4225429_orphanet_287 MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Junctional epidermolysis bullosa mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP418 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 Axial spondylometaphyseal dysplasia mondo_mondo_0011211_medgen_c1865695_omim_602271_orphanet_168549 MONDO:MONDO:0011211,MedGen:C1865695,OMIM:602271,Orphanet:168549 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP78 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Rett syndrome mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Intellectual developmental disorder with hypotonia and behavioral abnormalities mondo_mondo_0032897_medgen_c5231489_omim_618748 MONDO:MONDO:0032897,MedGen:C5231489,OMIM:618748 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1D condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Long QT syndrome 8 mondo_mondo_0032756_medgen_cn260585_omim_618447 MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C9 Complement component 9 deficiency mondo_mondo_0013445_medgen_c3151189_omim_613825 MONDO:MONDO:0013445,MedGen:C3151189,OMIM:613825 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QTNF5 Nanophthalmos 2 mondo_mondo_0012299_medgen_c1836006_omim_609549_orphanet_35612 MONDO:MONDO:0012299,MedGen:C1836006,OMIM:609549,Orphanet:35612 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRSK2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLNK Agammaglobulinemia 4, autosomal recessive mondo_mondo_0013289_medgen_c3150752_omim_613502 MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDK Branched-chain keto acid dehydrogenase kinase deficiency mondo_mondo_0013970_medgen_c3554078_omim_614923_orphanet_308410 MONDO:MONDO:0013970,MedGen:C3554078,OMIM:614923,Orphanet:308410 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 BBS7-related disorder bbs7_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 BBS12-related disorder bbs12_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies mondo_mondo_0859204_medgen_c5562015_omim_619602 MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Corpus callosum agenesis-abnormal genitalia syndrome mondo_mondo_0010224_medgen_c0796124_omim_300004_orphanet_2508 MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004,Orphanet:2508 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSG Usher syndrome, type 4 mondo_mondo_0029141_medgen_c4748364_omim_618144 MONDO:MONDO:0029141,MedGen:C4748364,OMIM:618144 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARPC1B Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease mondo_mondo_0060583_medgen_c4540232_omim_617718 MONDO:MONDO:0060583,MedGen:C4540232,OMIM:617718 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARG1 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Joubert syndrome 21 mondo_mondo_0014288_medgen_c3810212_omim_615636 MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1G1 Usmani-Riazuddin syndrome, autosomal dominant mondo_mondo_0859174_medgen_c5561952_omim_619467 MONDO:MONDO:0859174,MedGen:C5561952,OMIM:619467 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALK Neuroblastoma, susceptibility to, 3 mondo_mondo_0013083_medgen_c2751681_omim_613014_orphanet_635 MONDO:MONDO:0013083,MedGen:C2751681,OMIM:613014,Orphanet:635 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIMP1 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Spastic ataxia 5 mondo_mondo_0013776_medgen_c3280977_omim_614487_orphanet_313772 MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487,Orphanet:313772 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2B condition not provided condition_not_provided .|MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM9 condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN4 Focal segmental glomerulosclerosis 1 mondo_mondo_0011303_medgen_c4551527_omim_603278_orphanet_656 MONDO:MONDO:0011303,MedGen:C4551527,OMIM:603278,Orphanet:656 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Osteochondritis dissecans human_phenotype_ontology_hp_0010886_mondo_mondo_0017178_medgen_c0029421_orphanet_251262_orphanet_2764 Human_Phenotype_Ontology:HP:0010886,MONDO:MONDO:0017178,MedGen:C0029421,Orphanet:251262,Orphanet:2764 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADM ACADM-related disorder acadm_related_disorder . 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAGAB condition not provided condition_not_provided MedGen:C3661900 13 13 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF335 Microcephalic primordial dwarfism due to ZNF335 deficiency mondo_mondo_0014043_medgen_c3554499_omim_615095_orphanet_329228 MONDO:MONDO:0014043,MedGen:C3554499,OMIM:615095,Orphanet:329228 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMIZ1 Syndromic neurodevelopmental disorder syndromic_neurodevelopmental_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XYLT1 Desbuquois dysplasia 2 mondo_mondo_0014343_medgen_c4014294_omim_615777_orphanet_1425 MONDO:MONDO:0014343,MedGen:C4014294,OMIM:615777,Orphanet:1425 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Mesothelioma, malignant human_phenotype_ontology_hp_0100001_mondo_mondo_0006292_medgen_c0345967_omim_156240_orphanet_50251 Human_Phenotype_Ontology:HP:0100001,MONDO:MONDO:0006292,MedGen:C0345967,OMIM:156240,Orphanet:50251 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF von Willebrand disease type 2M mondo_mondo_0015630_medgen_c1282974_orphanet_166090 MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 Microphthalmia, isolated, with coloboma 3 mondo_mondo_0012408_medgen_c1864721_omim_610092_orphanet_98938 MONDO:MONDO:0012408,MedGen:C1864721,OMIM:610092,Orphanet:98938 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBIAD1 Schnyder crystalline corneal dystrophy human_phenotype_ontology_hp_0007760_mondo_mondo_0007374_medgen_c0271287_omim_121800_orphanet_98967 Human_Phenotype_Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800,Orphanet:98967 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Nonsyndromic Oculocutaneous Albinism nonsyndromic_oculocutaneous_albinism . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV6 Hyperparathyroidism, transient neonatal mondo_mondo_0032591_medgen_c1300287_omim_618188 MONDO:MONDO:0032591,MedGen:C1300287,OMIM:618188 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT10A Microcephaly, short stature, and impaired glucose metabolism 1 mondo_mondo_0000208_medgen_c4014997_omim_616033_orphanet_391408 MONDO:MONDO:0000208,MedGen:C4014997,OMIM:616033,Orphanet:391408 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIT1 Combined oxidative phosphorylation deficiency 35 mondo_mondo_0054742_medgen_c4693466_omim_617873 MONDO:MONDO:0054742,MedGen:C4693466,OMIM:617873 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM14 Spondyloepimetaphyseal dysplasia, Genevieve type mondo_mondo_0012495_medgen_c1864872_omim_610442_orphanet_168454 MONDO:MONDO:0012495,MedGen:C1864872,OMIM:610442,Orphanet:168454 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM3 Congenital myopathy 4A, autosomal dominant mondo_mondo_0800341_medgen_cn178536_omim_255310 MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNR Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus mondo_mondo_0859212_medgen_c5562040_omim_619653 MONDO:MONDO:0859212,MedGen:C5562040,OMIM:619653 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNPO2 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies mondo_mondo_0859197_medgen_c5561997_omim_619556 MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF11A Autosomal recessive osteopetrosis 7 mondo_mondo_0012859_medgen_c2676766_omim_612301_orphanet_178389 MONDO:MONDO:0012859,MedGen:C2676766,OMIM:612301,Orphanet:178389 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMTC3 Lissencephaly 8 mondo_mondo_0014992_medgen_c4310646_omim_617255 MONDO:MONDO:0014992,MedGen:C4310646,OMIM:617255 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMIE Autosomal recessive nonsyndromic hearing loss 6 mondo_mondo_0010965_medgen_c1832992_omim_600971_orphanet_90636 MONDO:MONDO:0010965,MedGen:C1832992,OMIM:600971,Orphanet:90636 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB THRB-related disorder thrb_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERC Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 mondo_mondo_0013879_medgen_c3553622_omim_614743_orphanet_88 MONDO:MONDO:0013879,MedGen:C3553622,OMIM:614743,Orphanet:88 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCOF1 TCOF1-related disorder tcof1_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Corneal dystrophy, Fuchs endothelial, 3 mondo_mondo_0013203_medgen_c2750451_omim_613267_orphanet_98974 MONDO:MONDO:0013203,MedGen:C2750451,OMIM:613267,Orphanet:98974 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Moderate global developmental delay human_phenotype_ontology_hp_0011343_medgen_c2237142 Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCE Autosomal recessive Kenny-Caffey syndrome mondo_mondo_0009486_medgen_c1855648_omim_244460_orphanet_2333_orphanet_93324 MONDO:MONDO:0009486,MedGen:C1855648,OMIM:244460,Orphanet:2333,Orphanet:93324 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D23 Pontocerebellar hypoplasia, type 11 mondo_mondo_0054669_medgen_c4540164_omim_617695_orphanet_611247 MONDO:MONDO:0054669,MedGen:C4540164,OMIM:617695,Orphanet:611247 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUMF1 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 Familial hemophagocytic lymphohistiocytosis mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIL Microcephaly 7, primary, autosomal recessive mondo_mondo_0012989_medgen_c2675187_omim_612703_orphanet_2512 MONDO:MONDO:0012989,MedGen:C2675187,OMIM:612703,Orphanet:2512 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAC3 Bailey-Bloch congenital myopathy mondo_mondo_0009722_medgen_c1850625_omim_255995_orphanet_168572 MONDO:MONDO:0009722,MedGen:C1850625,OMIM:255995,Orphanet:168572 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 SRD5A3-congenital disorder of glycosylation mondo_mondo_0012885_medgen_c4317224_omim_612379_orphanet_324737 MONDO:MONDO:0012885,MedGen:C4317224,OMIM:612379,Orphanet:324737 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset mondo_mondo_0014940_medgen_c4310693_omim_617145 MONDO:MONDO:0014940,MedGen:C4310693,OMIM:617145 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 SPTA1-related disorder spta1_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK1 Hereditary pancreatitis mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 SPG7-related disorder spg7_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG21 Mast syndrome mondo_mondo_0009568_medgen_c1855346_omim_248900_orphanet_101001 MONDO:MONDO:0009568,MedGen:C1855346,OMIM:248900,Orphanet:101001 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Troyer syndrome mondo_mondo_0010156_medgen_c0393559_omim_275900_orphanet_101000 MONDO:MONDO:0010156,MedGen:C0393559,OMIM:275900,Orphanet:101000 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPX Hearing loss, X-linked 4 mondo_mondo_0010238_medgen_c1848204_omim_300066_orphanet_90625 MONDO:MONDO:0010238,MedGen:C1848204,OMIM:300066,Orphanet:90625 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Intellectual disability, autosomal dominant 15 mondo_mondo_0013820_medgen_c3553248_omim_614608_orphanet_1465 MONDO:MONDO:0013820,MedGen:C3553248,OMIM:614608,Orphanet:1465 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 SLC4A1-related disorder slc4a1_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Monogenic hearing loss monogenic_hearing_loss . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Osteochondrodysplasia mondo_mondo_0005516_medgen_c0029422 MONDO:MONDO:0005516,MedGen:C0029422 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 SLC25A13-related disorder slc25a13_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A5 Decreased circulating carnitine concentration human_phenotype_ontology_hp_0003234_medgen_c5848230 Human_Phenotype_Ontology:HP:0003234,MedGen:C5848230 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC3 Trichohepatoenteric syndrome mondo_mondo_0009105_medgen_c1857276_omim_ps222470_orphanet_84064 MONDO:MONDO:0009105,MedGen:C1857276,OMIM:PS222470,Orphanet:84064 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 SETBP1-related disorder setbp1_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A Liddle syndrome 3 mondo_mondo_0029132_medgen_c4748292_omim_618126 MONDO:MONDO:0029132,MedGen:C4748292,OMIM:618126 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Paroxysmal extreme pain disorder mondo_mondo_0008179_medgen_c1833661_omim_167400_orphanet_46348 MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Hypokalemic periodic paralysis, type 1 mondo_mondo_0042979_medgen_c3714580_omim_170400_orphanet_681 MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH1 Dyschromatosis universalis hereditaria 1 mondo_mondo_0024524_medgen_c2675711_omim_127500 MONDO:MONDO:0024524,MedGen:C2675711,OMIM:127500 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAR1B Chylomicron retention disease mondo_mondo_0009528_medgen_c0795956_omim_246700_orphanet_71 MONDO:MONDO:0009528,MedGen:C0795956,OMIM:246700,Orphanet:71 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 mondo_mondo_0013117_medgen_c2751319_omim_613077 MONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS26 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR RPGR-related disorder rpgr_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 RPE65-related disorder rpe65_related_disorder MedGen:CN239301 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORC Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency mondo_mondo_0014710_medgen_c5567647_omim_616622_orphanet_477857 MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC Roifman syndrome mondo_mondo_0014722_medgen_c1846059_omim_616651_orphanet_353298 MONDO:MONDO:0014722,MedGen:C1846059,OMIM:616651,Orphanet:353298 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC Lowry-Wood syndrome mondo_mondo_0009191_medgen_c0796021_omim_226960_orphanet_1824 MONDO:MONDO:0009191,MedGen:C0796021,OMIM:226960,Orphanet:1824 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXAP MHC class II deficiency 4 mondo_mondo_0971015_medgen_c1859537_omim_620817 MONDO:MONDO:0971015,MedGen:C1859537,OMIM:620817 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REN Familial juvenile hyperuricemic nephropathy type 2 mondo_mondo_0013128_medgen_c2751310_omim_613092_orphanet_217330 MONDO:MONDO:0013128,MedGen:C2751310,OMIM:613092,Orphanet:217330 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASGRP1 Immunodeficiency 64 mondo_mondo_0032803_medgen_c5231402_omim_618534_orphanet_664699 MONDO:MONDO:0032803,MedGen:C5231402,OMIM:618534,Orphanet:664699 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB28 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Noonan syndrome 3 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS23 Exudative vitreoretinopathy 1 mondo_mondo_0007589_medgen_c1851402_omim_133780_orphanet_891_orphanet_90050 MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPA2 Sudden cardiac failure, infantile mondo_mondo_0014973_medgen_c4310664_omim_617222 MONDO:MONDO:0014973,MedGen:C4310664,OMIM:617222 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR Congenital adrenal hyperplasia human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B Charcot-Marie-Tooth disease, demyelinating, IIA 1I mondo_mondo_0030677_medgen_c5676914_omim_619742 MONDO:MONDO:0030677,MedGen:C5676914,OMIM:619742 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Ataxia - oculomotor apraxia type 4 mondo_mondo_0014557_medgen_c4225397_omim_616267_orphanet_459033 MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXNA1 Dworschak-Punetha neurodevelopmental syndrome mondo_mondo_0859260_medgen_c5677017_omim_619955 MONDO:MONDO:0859260,MedGen:C5677017,OMIM:619955 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGS Glycosylphosphatidylinositol biosynthesis defect 18 mondo_mondo_0029140_medgen_c4748357_omim_618143 MONDO:MONDO:0029140,MedGen:C4748357,OMIM:618143 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIDD1 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly mondo_mondo_0030785_medgen_c5676961_omim_619827 MONDO:MONDO:0030785,MedGen:C5676961,OMIM:619827 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIBF1 Joubert syndrome 33 mondo_mondo_0033311_medgen_c4540389_omim_617767 MONDO:MONDO:0033311,MedGen:C4540389,OMIM:617767 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKB condition not provided condition_not_provided .|MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDSS1 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome mondo_mondo_0013837_medgen_c3553354_omim_614651_orphanet_254898 MONDO:MONDO:0013837,MedGen:C3553354,OMIM:614651,Orphanet:254898 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA1 Pyruvate dehydrogenase complex deficiency mondo_mondo_0019169_medgen_c0034345_omim_ps312170_orphanet_765_orphanet_79243 MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE4D condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Coloboma, ocular, autosomal dominant mondo_mondo_0007350_medgen_c5886785_omim_120200 MONDO:MONDO:0007350,MedGen:C5886785,OMIM:120200 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 PAX2-related disorder pax2_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARN Pulmonary fibrosis human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARK7 Autosomal recessive early-onset Parkinson disease 7 mondo_mondo_0011658_medgen_c1853445_omim_606324_orphanet_2828 MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP93 Nephrotic syndrome, type 12 mondo_mondo_0014817_medgen_c4225166_omim_616892_orphanet_656 MONDO:MONDO:0014817,MedGen:C4225166,OMIM:616892,Orphanet:656 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Noonan syndrome 6 mondo_mondo_0013186_medgen_c2750732_omim_613224_orphanet_648 MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C1 Glucocorticoid resistance mondo_mondo_0014421_medgen_c1841972_omim_615962_orphanet_786 MONDO:MONDO:0014421,MedGen:C1841972,OMIM:615962,Orphanet:786 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NONO condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Familial amyloid nephropathy with urticaria AND deafness mondo_mondo_0008633_medgen_c0268390_omim_191900_orphanet_575 MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Chronic infantile neurological, cutaneous and articular syndrome mondo_mondo_0011776_medgen_c0409818_omim_607115_orphanet_1451 MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFU1 Multiple mitochondrial dysfunctions syndrome 1 mondo_mondo_0011582_medgen_c3276432_omim_605711_orphanet_401869 MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711,Orphanet:401869 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS7 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCR1 Hydatidiform mole, recurrent, 1 mondo_mondo_0009273_medgen_c3463897_omim_231090_orphanet_254688_orphanet_99927 MONDO:MONDO:0009273,MedGen:C3463897,OMIM:231090,Orphanet:254688,Orphanet:99927 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NANS Spondyloepimetaphyseal dysplasia, Genevieve type mondo_mondo_0012495_medgen_c1864872_omim_610442_orphanet_168454 MONDO:MONDO:0012495,MedGen:C1864872,OMIM:610442,Orphanet:168454 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYPN MYPN-related myopathy mondo_mondo_0015023_medgen_c4479186_omim_617336 MONDO:MONDO:0015023,MedGen:C4479186,OMIM:617336 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO1E condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Autosomal dominant nonsyndromic hearing loss 17 mondo_mondo_0011350_medgen_c1863659_omim_603622_orphanet_90635 MONDO:MONDO:0011350,MedGen:C1863659,OMIM:603622,Orphanet:90635 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes mondo_mondo_0100283_medgen_cn300503 MONDO:MONDO:0100283,MedGen:CN300503 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSTO1 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome mondo_mondo_0044714_medgen_c4540096_omim_617675_orphanet_502423 MONDO:MONDO:0044714,MedGen:C4540096,OMIM:617675,Orphanet:502423 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Mismatch repair cancer syndrome 1 mondo_mondo_0010159_medgen_c5399763_omim_276300_orphanet_252202 MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS22 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPO Myeloperoxidase deficiency mondo_mondo_0009694_medgen_c0398595_omim_254600_orphanet_2587 MONDO:MONDO:0009694,MedGen:C0398595,OMIM:254600,Orphanet:2587 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPLKIP condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP2 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAB condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAB Methylmalonic acidemia human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLIP Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis mondo_mondo_0979249_medgen_cn322496_omim_ps620138 MONDO:MONDO:0979249,MedGen:CN322496,OMIM:PS620138 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 MKS1-related disorder mks1_related_disorder MedGen:CN239382 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIPEP Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome mondo_mondo_0014976_medgen_c4310661_omim_617228_orphanet_478049 MONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228,Orphanet:478049 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINPP1 Pontocerebellar hypoplasia, type 16 mondo_mondo_0030438_medgen_c5561987_omim_619527 MONDO:MONDO:0030438,MedGen:C5561987,OMIM:619527 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MERTK Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 mondo_mondo_0014758_medgen_c4225221_omim_616738_orphanet_71289 MONDO:MONDO:0014758,MedGen:C4225221,OMIM:616738,Orphanet:71289 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCIDAS Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC1 MCCC1-related disorder mccc1_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPKBP1 Nephronophthisis 20 mondo_mondo_0014997_medgen_c4310640_omim_617271 MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAOA Brunner syndrome mondo_mondo_0010379_medgen_c0796275_omim_300615_orphanet_3057 MONDO:MONDO:0010379,MedGen:C0796275,OMIM:300615,Orphanet:3057 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN1B1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAK Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B Nail-patella-like renal disease mondo_mondo_0009724_medgen_c0403548_omim_256020_orphanet_2613 MONDO:MONDO:0009724,MedGen:C0403548,OMIM:256020,Orphanet:2613 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B LMX1B-related disorder lmx1b_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 Polydactyly of a triphalangeal thumb mondo_mondo_0008270_medgen_c1868114_omim_174500_orphanet_2439_orphanet_2950_orphanet_93336 MONDO:MONDO:0008270,MedGen:C1868114,OMIM:174500,Orphanet:2439,Orphanet:2950,Orphanet:93336 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KYNU Vertebral, cardiac, renal, and limb defects syndrome 2 mondo_mondo_0060555_medgen_c4540014_omim_617661 MONDO:MONDO:0060555,MedGen:C4540014,OMIM:617661 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex 2B, generalized intermediate mondo_mondo_0030525_medgen_c5562009_omim_619588 MONDO:MONDO:0030525,MedGen:C5562009,OMIM:619588 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Epidermolysis bullosa simplex mondo_mondo_0017610_medgen_c0079298_omim_ps131760_orphanet_304 MONDO:MONDO:0017610,MedGen:C0079298,OMIM:PS131760,Orphanet:304 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Intellectual developmental disorder, autosomal dominant 68 mondo_mondo_0030969_medgen_c5677008_omim_619934 MONDO:MONDO:0030969,MedGen:C5677008,OMIM:619934 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1R condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Myoclonus, intractable, neonatal mondo_mondo_0014979_medgen_c4310658_omim_617235 MONDO:MONDO:0014979,MedGen:C4310658,OMIM:617235 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT2 Developmental and epileptic encephalopathy, 57 mondo_mondo_0033366_medgen_c4540411_omim_617771 MONDO:MONDO:0033366,MedGen:C4540411,OMIM:617771 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Jervell and Lange-Nielsen syndrome mondo_mondo_0002441_medgen_c0022387_omim_ps220400_orphanet_90647 MONDO:MONDO:0002441,MedGen:C0022387,OMIM:PS220400,Orphanet:90647 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2 mondo_mondo_0011153_medgen_c2931833_omim_601820_orphanet_276580_orphanet_276603 MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Diabetes mellitus, transient neonatal, 3 mondo_mondo_0012522_medgen_c1864623_omim_610582_orphanet_99886 MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC2 Developmental and epileptic encephalopathy 103 mondo_mondo_0030957_medgen_c5677002_omim_619913 MONDO:MONDO:0030957,MedGen:C5677002,OMIM:619913 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC1 Progressive myoclonic epilepsy type 7 mondo_mondo_0014521_medgen_c4015420_omim_616187_orphanet_435438 MONDO:MONDO:0014521,MedGen:C4015420,OMIM:616187,Orphanet:435438 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JMJD8 Autosomal recessive spinocerebellar ataxia 16 mondo_mondo_0014339_medgen_c5190574_omim_615768_orphanet_412057 MONDO:MONDO:0014339,MedGen:C5190574,OMIM:615768,Orphanet:412057 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTS1 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies mondo_mondo_0032817_medgen_c5231414_omim_618571 MONDO:MONDO:0032817,MedGen:C5231414,OMIM:618571 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR Insulin-resistant diabetes mellitus AND acanthosis nigricans mondo_mondo_0012520_medgen_c0342278_omim_610549_orphanet_2297 MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Diabetes mellitus, permanent neonatal 4 mondo_mondo_0030089_medgen_c5394307_omim_618858 MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7R condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6ST condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RG Combined immunodeficiency, X-linked mondo_mondo_0010730_medgen_cn030319_omim_312863 MONDO:MONDO:0010730,MedGen:CN030319,OMIM:312863 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL11RA condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT27 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNAR2 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ICOS Immunodeficiency, common variable, 1 mondo_mondo_0011864_medgen_c3149378_omim_607594_orphanet_1572_orphanet_695183 MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594,Orphanet:1572,Orphanet:695183 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IAH1 Inflammatory skin and bowel disease, neonatal, 1 mondo_mondo_0013693_medgen_c3280501_omim_614328_orphanet_294023 MONDO:MONDO:0013693,MedGen:C3280501,OMIM:614328,Orphanet:294023 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYDIN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 CARASIL syndrome mondo_mondo_0010829_medgen_c1838577_omim_600142_orphanet_199354 MONDO:MONDO:0010829,MedGen:C1838577,OMIM:600142,Orphanet:199354 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B3 Pseudohermaphroditism mondo_mondo_0005518_medgen_c0033804 MONDO:MONDO:0005518,MedGen:C0033804 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA13 Hand-foot-genital syndrome mondo_mondo_0007698_medgen_c1841679_omim_140000_orphanet_2438 MONDO:MONDO:0007698,MedGen:C1841679,OMIM:140000,Orphanet:2438 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Neurodevelopmental disorder with visual defects and brain anomalies mondo_mondo_0032807_medgen_c5231404_omim_618547 MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Beta thalassemia intermedia mondo_mondo_0016487_medgen_c0472767_orphanet_231222 MONDO:MONDO:0016487,MedGen:C0472767,Orphanet:231222 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B Bryant-Li-Bhoj neurodevelopmental syndrome 2 mondo_mondo_0030607_medgen_c5676906_omim_619721 MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A Bryant-Li-Bhoj neurodevelopmental syndrome 1 mondo_mondo_0030606_medgen_c5676905_omim_619720 MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIP1 Fraser syndrome 3 mondo_mondo_0054739_medgen_c4540040_omim_617667 MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS ACTH-independent macronodular adrenal hyperplasia 1 mondo_mondo_0020735_medgen_c1857451_omim_219080 MONDO:MONDO:0020735,MedGen:C1857451,OMIM:219080 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLIS3 Neonatal diabetes mellitus with congenital hypothyroidism mondo_mondo_0012436_medgen_c1857775_omim_610199_orphanet_79118 MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Polysyndactyly 4 mondo_mondo_0008272_medgen_c1868111_omim_174700_orphanet_93338 MONDO:MONDO:0008272,MedGen:C1868111,OMIM:174700,Orphanet:93338 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLA GLA-related disorder gla_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGCX Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency mondo_mondo_0012570_medgen_c1835813_omim_610842_orphanet_91135 MONDO:MONDO:0012570,MedGen:C1835813,OMIM:610842,Orphanet:91135 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 Atrial septal defect 2 mondo_mondo_0011938_medgen_c1842778_omim_607941_orphanet_1478 MONDO:MONDO:0011938,MedGen:C1842778,OMIM:607941,Orphanet:1478 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC3 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXN condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLAD1 Myopathy with abnormal lipid metabolism mondo_mondo_0009703_medgen_c4310822_omim_255100 MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Amyotrophic lateral sclerosis type 11 mondo_mondo_0012945_medgen_c2675491_omim_612577_orphanet_803 MONDO:MONDO:0012945,MedGen:C2675491,OMIM:612577,Orphanet:803 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG Familial dysfibrinogenemia mondo_mondo_0014452_medgen_c0272350_omim_616004_orphanet_335_orphanet_98881 MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 FGFR3-related disorder fgfr3_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Epidermal nevus human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Cervical cancer human_phenotype_ontology_hp_0030079_mondo_mondo_0002974_medgen_c4048328_omim_603956 Human_Phenotype_Ontology:HP:0030079,MONDO:MONDO:0002974,MedGen:C4048328,OMIM:603956 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Saethre-Chotzen syndrome mondo_mondo_0007042_medgen_c0175699_omim_101400_orphanet_794 MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400,Orphanet:794 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD4 Charcot-Marie-Tooth disease type 4H mondo_mondo_0012250_medgen_c1836336_omim_609311_orphanet_99954 MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311,Orphanet:99954 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBP1 condition not provided condition_not_provided .|MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM FANCM-related disorder fancm_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAN1 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM161A Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F5 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F5 Pregnancy loss, recurrent, susceptibility to, 1 mondo_mondo_0013727_medgen_c3280670_omim_614389 MONDO:MONDO:0013727,MedGen:C3280670,OMIM:614389 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXPH5 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive mondo_mondo_0014014_medgen_c3554367_omim_615028_orphanet_412189 MONDO:MONDO:0014014,MedGen:C3554367,OMIM:615028,Orphanet:412189 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 EPHB4-related disorder ephb4_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EOGT Adams-Oliver syndrome 4 mondo_mondo_0014124_medgen_c3809092_omim_615297_orphanet_974 MONDO:MONDO:0014124,MedGen:C3809092,OMIM:615297,Orphanet:974 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC10 Neurodevelopmental disorder with dysmorphic facies and variable seizures mondo_mondo_0031011_medgen_c5543268_omim_619264 MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGR2 Charcot-Marie-Tooth disease, type I mondo_mondo_0019011_medgen_c0751036_orphanet_65753 MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDEM3 Congenital disorder of glycosylation, type 2v mondo_mondo_0030423_medgen_c5561971_omim_619493_orphanet_695783 MONDO:MONDO:0030423,MedGen:C5561971,OMIM:619493,Orphanet:695783 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA EDA-related disorder eda_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOX2 DUOX2-related disorder duox2_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM3 DPM3-congenital disorder of glycosylation mondo_mondo_0013049_medgen_c2752007_omim_612937_orphanet_263494 MONDO:MONDO:0013049,MedGen:C2752007,OMIM:612937,Orphanet:263494 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPF2 Coffin-Siris syndrome 7 mondo_mondo_0054831_medgen_c4747954_omim_618027 MONDO:MONDO:0054831,MedGen:C4747954,OMIM:618027 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC6 Juvenile onset Parkinson disease 19A mondo_mondo_0014231_medgen_c3809811_omim_615528_orphanet_391411 MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528,Orphanet:391411 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC12 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF2 Primary ciliary dyskinesia 10 mondo_mondo_0012918_medgen_c2675867_omim_612518_orphanet_244 MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEGS1 Leukodystrophy, hypomyelinating, 18 mondo_mondo_0032730_medgen_c5193078_omim_618404 MONDO:MONDO:0032730,MedGen:C5193078,OMIM:618404 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 DDX41-related disorder ddx41_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDC condition not provided condition_not_provided .|MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN1 Perry syndrome mondo_mondo_0008201_medgen_c1868594_omim_168605_orphanet_178509 MONDO:MONDO:0008201,MedGen:C1868594,OMIM:168605,Orphanet:178509 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP19A1 Aromatase excess syndrome mondo_mondo_0007690_medgen_c1970109_omim_139300_orphanet_178345 MONDO:MONDO:0007690,MedGen:C1970109,OMIM:139300,Orphanet:178345 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Pilomatrixoma human_phenotype_ontology_hp_0030434_mondo_mondo_0007564_mesh_d018296_medgen_c0206711_omim_132600_orphanet_91414 Human_Phenotype_Ontology:HP:0030434,MONDO:MONDO:0007564,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:91414 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF3R condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF1R Brain abnormalities, neurodegeneration, and dysosteosclerosis mondo_mondo_0032772_medgen_c5193117_omim_618476 MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Leber congenital amaurosis 1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAMD8 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX10 Mitochondrial complex IV deficiency, nuclear type 3 mondo_mondo_0033635_medgen_c5436682_omim_619046 MONDO:MONDO:0033635,MedGen:C5436682,OMIM:619046 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG4 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN3 Neurodevelopmental disorder with hypotonia and brain abnormalities mondo_mondo_0859187_medgen_c5561977_omim_619512 MONDO:MONDO:0859187,MedGen:C5561977,OMIM:619512 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN2 Epilepsy, idiopathic generalized, susceptibility to, 11 mondo_mondo_0011875_medgen_c2750893_omim_607628_orphanet_307 MONDO:MONDO:0011875,MedGen:C2750893,OMIM:607628,Orphanet:307 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 Roifman syndrome mondo_mondo_0014722_medgen_c1846059_omim_616651_orphanet_353298 MONDO:MONDO:0014722,MedGen:C1846059,OMIM:616651,Orphanet:353298 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 Lowry-Wood syndrome mondo_mondo_0009191_medgen_c0796021_omim_226960_orphanet_1824 MONDO:MONDO:0009191,MedGen:C0796021,OMIM:226960,Orphanet:1824 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIT Microcephaly 17, primary, autosomal recessive mondo_mondo_0014908_medgen_c4310723_omim_617090_orphanet_2512 MONDO:MONDO:0014908,MedGen:C4310723,OMIM:617090,Orphanet:2512 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 CHEK2-related disorder chek2_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1C IMAGe syndrome mondo_mondo_0013873_medgen_c1846009_omim_614732_orphanet_85173 MONDO:MONDO:0013873,MedGen:C1846009,OMIM:614732,Orphanet:85173 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 Congenital hypotrichosis with juvenile macular dystrophy mondo_mondo_0011107_medgen_c1832162_omim_601553_orphanet_1573 MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553,Orphanet:1573 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB Chilton-Okur-Chung neurodevelopmental syndrome mondo_mondo_0859239_medgen_c5677022_omim_619841 MONDO:MONDO:0859239,MedGen:C5677022,OMIM:619841 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD36 condition not provided condition_not_provided .|MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD2AP Focal segmental glomerulosclerosis 3, susceptibility to mondo_mondo_0011917_medgen_c1842982_omim_607832_orphanet_656 MONDO:MONDO:0011917,MedGen:C1842982,OMIM:607832,Orphanet:656 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAVIN1 Congenital generalized lipodystrophy type 4 mondo_mondo_0013225_medgen_c2750069_omim_613327_orphanet_228429 MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327,Orphanet:228429 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAST condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 CAPN3-related disorder capn3_related_disorder MedGen:CN239245 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA4 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C7 Complement component 7 deficiency mondo_mondo_0012412_medgen_c1864694_omim_610102 MONDO:MONDO:0012412,MedGen:C1864694,OMIM:610102 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 Cornelia de Lange syndrome 6 mondo_mondo_0957921_medgen_c5882712_omim_620568 MONDO:MONDO:0957921,MedGen:C5882712,OMIM:620568 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF LEOPARD syndrome 3 mondo_mondo_0013380_medgen_c3150971_omim_613707_orphanet_500 MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707,Orphanet:500 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICRA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Retinitis pigmentosa 50 mondo_mondo_0013175_medgen_c2750789_omim_613194_orphanet_791 MONDO:MONDO:0013175,MedGen:C2750789,OMIM:613194,Orphanet:791 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAS3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A1 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 ATP1A3-related disorder atp1a3_related_disorder . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Alternating hemiplegia of childhood 1 mondo_mondo_0007087_medgen_c3549447_omim_104290_orphanet_2131 MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC3 Intellectual developmental disorder, autosomal recessive 81 mondo_mondo_0958204_medgen_c5882758_omim_620700 MONDO:MONDO:0958204,MedGen:C5882758,OMIM:620700 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF2 Periventricular heterotopia with microcephaly, autosomal recessive mondo_mondo_0011966_medgen_c1842563_omim_608097_orphanet_2149 MONDO:MONDO:0011966,MedGen:C1842563,OMIM:608097,Orphanet:2149 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Hypobetalipoproteinemia mondo_mondo_0017774_medgen_c0020597_orphanet_31154 MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 condition not provided condition_not_provided .|MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5Z1 Macular dystrophy with or without extraocular features macular_dystrophy_with_or_without_extraocular_features . 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALX4 Parietal foramina 2 mondo_mondo_0012309_medgen_c1865044_omim_609597_orphanet_60015 MONDO:MONDO:0012309,MedGen:C1865044,OMIM:609597,Orphanet:60015 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPAT2 condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO2 Lessel-Kreienkamp syndrome mondo_mondo_0030897_medgen_c5436892_omim_619149 MONDO:MONDO:0030897,MedGen:C5436892,OMIM:619149 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS17 Weill-Marchesani 4 syndrome, recessive mondo_mondo_0013176_medgen_c2750787_omim_613195_orphanet_363992 MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Pulmonary hypertension, primary, 1 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B condition not provided condition_not_provided MedGen:C3661900 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Hypertrophic cardiomyopathy 11 mondo_mondo_0012799_medgen_c2677506_omim_612098 MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Dilated cardiomyopathy 1R mondo_mondo_0013261_medgen_c3150681_omim_613424_orphanet_154_orphanet_54260 MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Progressive scapulohumeroperoneal distal myopathy mondo_mondo_0014800_medgen_c4225181_omim_616852_orphanet_447977 MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Spondyloepiphyseal dysplasia, Kimberley type mondo_mondo_0012019_medgen_c1842149_omim_608361_orphanet_93283 MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Developmental and epileptic encephalopathy, 29 mondo_mondo_0014593_medgen_c4225361_omim_616339_orphanet_442835 MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339,Orphanet:442835 12 12 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF335 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF142 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy mondo_mondo_0012074_medgen_c1837756_omim_608612_orphanet_2457_orphanet_90154 MONDO:MONDO:0012074,MedGen:C1837756,OMIM:608612,Orphanet:2457,Orphanet:90154 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1AP1 Grange syndrome mondo_mondo_0011243_medgen_c1865267_omim_602531_orphanet_79094 MONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531,Orphanet:79094 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC4 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWA1 Neuronopathy, distal hereditary motor, autosomal recessive 7 mondo_mondo_0030977_medgen_c5543119_omim_619216 MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Nonpapillary renal cell carcinoma mondo_mondo_0007763_medgen_cn074294_omim_144700_orphanet_422526 MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 mondo_mondo_0008178_medgen_c4551951_omim_167320 MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPB1 Deficiency of beta-ureidopropionase mondo_mondo_0013164_medgen_c1291512_omim_613161_orphanet_65287 MONDO:MONDO:0013164,MedGen:C1291512,OMIM:613161,Orphanet:65287 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC93B1 Herpes simplex encephalitis, susceptibility to, 1 mondo_mondo_0024563_medgen_c2750180_omim_610551_orphanet_1930 MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGDH Developmental and epileptic encephalopathy, 84 mondo_mondo_0032918_medgen_c5394081_omim_618792 MONDO:MONDO:0032918,MedGen:C5394081,OMIM:618792 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTLL5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTLL5 Cone-rod dystrophy 19 mondo_mondo_0014372_medgen_c4014501_omim_615860_orphanet_1872 MONDO:MONDO:0014372,MedGen:C4014501,OMIM:615860,Orphanet:1872 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC14 Primary ciliary dyskinesia 14 mondo_mondo_0013434_medgen_c3151136_omim_613807_orphanet_244 MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPC6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT1 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Systemic lupus erythematosus human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREM2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 mondo_mondo_0020750_medgen_c4748657_omim_618193 MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAIP condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOGARAM1 Joubert syndrome 37 mondo_mondo_0030933_medgen_c5543064_omim_619185 MONDO:MONDO:0030933,MedGen:C5543064,OMIM:619185 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Dilated cardiomyopathy 1FF mondo_mondo_0013211_medgen_c2750091_omim_613286_orphanet_154 MONDO:MONDO:0013211,MedGen:C2750091,OMIM:613286,Orphanet:154 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI2 Distal arthrogryposis type 2B1 mondo_mondo_0020820_medgen_c5193014_omim_601680_orphanet_1147 MONDO:MONDO:0020820,MedGen:C5193014,OMIM:601680,Orphanet:1147 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMCO1 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 mondo_mondo_0800436_medgen_c5677021_omim_213980_orphanet_1394 MONDO:MONDO:0800436,MedGen:C5677021,OMIM:213980,Orphanet:1394 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRA Congenital nongoitrous hypothyroidism 6 mondo_mondo_0013757_medgen_c3280817_omim_614450_orphanet_97927 MONDO:MONDO:0013757,MedGen:C3280817,OMIM:614450,Orphanet:97927 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TELO2 TELO2-related intellectual disability-neurodevelopmental disorder mondo_mondo_0014848_medgen_c4310778_omim_616954_orphanet_488642 MONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954,Orphanet:488642 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCEAL1 Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked mondo_mondo_0859085_medgen_c5774179_omim_301094 MONDO:MONDO:0859085,MedGen:C5774179,OMIM:301094 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARDBP condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACSTD2 Gelatinous droplike corneal dystrophy mondo_mondo_0008777_medgen_c0339273_omim_204870_orphanet_98957 MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870,Orphanet:98957 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STS X-linked ichthyosis with steryl-sulfatase deficiency mondo_mondo_0010622_medgen_c0079588_omim_308100_orphanet_461 MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100,Orphanet:461 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRA6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIM1 Myopathy, tubular aggregate, 1 mondo_mondo_0024531_medgen_c4011726_omim_160565 MONDO:MONDO:0024531,MedGen:C4011726,OMIM:160565 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINT2 Congenital secretory sodium diarrhea 3 mondo_mondo_0010036_medgen_c5441927_omim_270420_orphanet_103908 MONDO:MONDO:0010036,MedGen:C5441927,OMIM:270420,Orphanet:103908 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST SPAST-related disorder spast_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS2 Noonan syndrome 9 mondo_mondo_0014691_medgen_c4225282_omim_616559_orphanet_648 MONDO:MONDO:0014691,MedGen:C4225282,OMIM:616559,Orphanet:648 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCE1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 SMARCB1-related schwannomatosis mondo_mondo_0024517_medgen_c4048809_omim_162091_orphanet_93921 MONDO:MONDO:0024517,MedGen:C4048809,OMIM:162091,Orphanet:93921 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Myhre syndrome mondo_mondo_0007688_medgen_c0796081_omim_139210_orphanet_2588 MONDO:MONDO:0007688,MedGen:C0796081,OMIM:139210,Orphanet:2588 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLURP1 Acroerythrokeratoderma mondo_mondo_0009552_medgen_c0025221_omim_248300_orphanet_87503 MONDO:MONDO:0009552,MedGen:C0025221,OMIM:248300,Orphanet:87503 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A3 Congenital secretory sodium diarrhea 8 mondo_mondo_0014808_medgen_c5441928_omim_616868_orphanet_103908 MONDO:MONDO:0014808,MedGen:C5441928,OMIM:616868,Orphanet:103908 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A9 Atypical glycine encephalopathy mondo_mondo_0015010_medgen_c4310943_omim_617301_orphanet_289863 MONDO:MONDO:0015010,MedGen:C4310943,OMIM:617301,Orphanet:289863 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A7 Neuronopathy, distal hereditary motor, type 7A mondo_mondo_0008024_medgen_c1834703_omim_158580_orphanet_139589 MONDO:MONDO:0008024,MedGen:C1834703,OMIM:158580,Orphanet:139589 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A6 Neurodegeneration, infantile-onset, biotin-responsive mondo_mondo_0033546_medgen_c5436520_omim_618973_orphanet_521268 MONDO:MONDO:0033546,MedGen:C5436520,OMIM:618973,Orphanet:521268 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A10 Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities mondo_mondo_0958278_medgen_c5935589_omim_620746_orphanet_664430 MONDO:MONDO:0958278,MedGen:C5935589,OMIM:620746,Orphanet:664430 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A2 SLC45A2-related disorder slc45a2_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A14 Hypermanganesemia with dystonia 2 mondo_mondo_0014864_medgen_c4310765_omim_617013_orphanet_521406 MONDO:MONDO:0014864,MedGen:C4310765,OMIM:617013,Orphanet:521406 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A2 PULMONARY ALVEOLAR MICROLITHIASIS mondo_mondo_0009928_medgen_c0155912_omim_265100_orphanet_60025 MONDO:MONDO:0009928,MedGen:C0155912,OMIM:265100,Orphanet:60025 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Epilepsy, idiopathic generalized, susceptibility to, 12 mondo_mondo_0013919_medgen_c3553859_omim_614847 MONDO:MONDO:0013919,MedGen:C3553859,OMIM:614847 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC29A3 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A12 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A1 Congenital stationary night blindness 1D mondo_mondo_0013450_medgen_c3151193_omim_613830_orphanet_215 MONDO:MONDO:0013450,MedGen:C3151193,OMIM:613830,Orphanet:215 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Knobloch syndrome mondo_mondo_0800166_medgen_c1849409_omim_ps267750_orphanet_1571 MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Bartter syndrome mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 Autosomal dominant nonsyndromic hearing loss 23 mondo_mondo_0011519_medgen_c1854594_omim_605192_orphanet_90635 MONDO:MONDO:0011519,MedGen:C1854594,OMIM:605192,Orphanet:90635 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SET condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 RUNX1-related disorder runx1_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO4 Nonsyndromic congenital nail disorder 4 mondo_mondo_0008798_medgen_c3277900_omim_206800_orphanet_79143_orphanet_94150 MONDO:MONDO:0008798,MedGen:C3277900,OMIM:206800,Orphanet:79143,Orphanet:94150 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Retinoschisis human_phenotype_ontology_hp_0030502_mondo_mondo_0004579_medgen_c0152439 Human_Phenotype_Ontology:HP:0030502,MONDO:MONDO:0004579,MedGen:C0152439 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS7 Diamond-Blackfan anemia 8 mondo_mondo_0012939_medgen_c2675511_omim_612563_orphanet_124 MONDO:MONDO:0012939,MedGen:C2675511,OMIM:612563,Orphanet:124 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Moyamoya disease 2 mondo_mondo_0011784_medgen_c1846689_omim_607151_orphanet_2573 MONDO:MONDO:0011784,MedGen:C1846689,OMIM:607151,Orphanet:2573 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF17 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF168 RIDDLE syndrome mondo_mondo_0012764_medgen_c2677792_omim_611943_orphanet_420741 MONDO:MONDO:0012764,MedGen:C2677792,OMIM:611943,Orphanet:420741 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Joubert syndrome 5 mondo_mondo_0012432_medgen_c1857780_omim_610188_orphanet_2318 MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Pigmentary retinal dystrophy human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 RIT1-related disorder rit1_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOBTB2 condition not provided condition_not_provided .|MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOBTB2 Developmental and epileptic encephalopathy, 64 mondo_mondo_0033373_medgen_c4693899_omim_618004 MONDO:MONDO:0033373,MedGen:C4693899,OMIM:618004 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFC4 Morimoto-Ryu-Malicdan neuromuscular syndrome mondo_mondo_0975848_medgen_c5975521_omim_621010 MONDO:MONDO:0975848,MedGen:C5975521,OMIM:621010 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM8A Radial aplasia-thrombocytopenia syndrome mondo_mondo_0010121_mesh_c536940_medgen_c0175703_omim_274000_orphanet_3320 MONDO:MONDO:0010121,MeSH:C536940,MedGen:C0175703,OMIM:274000,Orphanet:3320 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASGRP2 Platelet-type bleeding disorder 18 mondo_mondo_0014386_medgen_c4014584_omim_615888_orphanet_420566 MONDO:MONDO:0014386,MedGen:C4014584,OMIM:615888,Orphanet:420566 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 RASA1-related disorder rasa1_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence QARS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH1R Metaphyseal chondrodysplasia, Jansen type mondo_mondo_0007982_medgen_c0265295_omim_156400_orphanet_33067 MONDO:MONDO:0007982,MedGen:C0265295,OMIM:156400,Orphanet:33067 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Basal cell carcinoma, susceptibility to, 1 mondo_mondo_0011556_medgen_c2751544_omim_605462 MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD12 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 Phosphoribosylpyrophosphate synthetase superactivity mondo_mondo_0010395_medgen_c1970827_omim_300661_orphanet_3222 MONDO:MONDO:0010395,MedGen:C1970827,OMIM:300661,Orphanet:3222 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Retinal macular dystrophy type 2 mondo_mondo_0011957_medgen_c4749334_omim_608051_orphanet_319640 MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orphanet:319640 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREPL condition not provided condition_not_provided .|MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIA3 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA1 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Charcot-Marie-Tooth disease type 1E mondo_mondo_0007311_medgen_c3495591_omim_118300_orphanet_90658 MONDO:MONDO:0007311,MedGen:C3495591,OMIM:118300,Orphanet:90658 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLPBP Epilepsy, early-onset, vitamin B6-dependent mondo_mondo_0015005_medgen_c4310632_omim_617290 MONDO:MONDO:0015005,MedGen:C4310632,OMIM:617290 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCZ1 Spermatogenic failure 17 mondo_mondo_0014970_medgen_c4310666_omim_617214 MONDO:MONDO:0014970,MedGen:C4310666,OMIM:617214 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAA Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies mondo_mondo_0060502_medgen_c4479631_omim_617527_orphanet_521426 MONDO:MONDO:0060502,MedGen:C4479631,OMIM:617527,Orphanet:521426 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKDCC Rhizomelic limb shortening with dysmorphic features mondo_mondo_0032935_medgen_c5394173_omim_618821 MONDO:MONDO:0032935,MedGen:C5394173,OMIM:618821 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3C2G Spermatogenic failure 17 mondo_mondo_0014970_medgen_c4310666_omim_617214 MONDO:MONDO:0014970,MedGen:C4310666,OMIM:617214 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGA Paroxysmal nocturnal hemoglobinuria 1 mondo_mondo_0010438_medgen_c3806670_omim_300818_orphanet_447 MONDO:MONDO:0010438,MedGen:C3806670,OMIM:300818,Orphanet:447 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHGDH condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAM2 Glycogen storage disease type X mondo_mondo_0009865_medgen_c0268149_omim_261670_orphanet_97234 MONDO:MONDO:0009865,MedGen:C0268149,OMIM:261670,Orphanet:97234 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHB Pyruvate dehydrogenase phosphatase deficiency mondo_mondo_0012120_medgen_c1837429_omim_608782_orphanet_79246 MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782,Orphanet:79246 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 PAX6-related disorder pax6_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency mondo_mondo_0009863_medgen_c0878676_omim_261640_orphanet_13_orphanet_238583 MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:13,Orphanet:238583 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Abortive cerebellar ataxia mondo_mondo_0008858_medgen_c0221061_omim_210000_orphanet_1239 MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000,Orphanet:1239 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OGT Intellectual disability, X-linked 106 mondo_mondo_0030907_medgen_c4478379_omim_300997 MONDO:MONDO:0030907,MedGen:C4478379,OMIM:300997 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NYX Congenital stationary night blindness 1A mondo_mondo_0010690_medgen_c3495587_omim_310500_orphanet_215 MONDO:MONDO:0010690,MedGen:C3495587,OMIM:310500,Orphanet:215 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUBPL condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 NSD1-related disorder nsd1_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRROS Seizures, early-onset, with neurodegeneration and brain calcifications mondo_mondo_0030033_medgen_c5394359_omim_618875 MONDO:MONDO:0030033,MedGen:C5394359,OMIM:618875 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRL Retinitis pigmentosa 27 mondo_mondo_0013402_medgen_c1834329_omim_613750_orphanet_791 MONDO:MONDO:0013402,MedGen:C1834329,OMIM:613750,Orphanet:791 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Short stature with nonspecific skeletal abnormalities mondo_mondo_0975810_medgen_c4225399_omim_ps616255 MONDO:MONDO:0975810,MedGen:C4225399,OMIM:PS616255 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG Proximal symphalangism 1A mondo_mondo_0020733_medgen_c3714899_omim_185800_orphanet_3250 MONDO:MONDO:0020733,MedGen:C3714899,OMIM:185800,Orphanet:3250 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHLRC1 Myoclonic epilepsy of Lafora 2 mondo_mondo_0800306_medgen_c1850764_omim_620681 MONDO:MONDO:0800306,MedGen:C1850764,OMIM:620681 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB2 Immunodeficiency, common variable, 10 mondo_mondo_0014260_medgen_c3809991_omim_615577 MONDO:MONDO:0014260,MedGen:C3809991,OMIM:615577 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK9 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS8 Mitochondrial complex I deficiency, nuclear type 2 mondo_mondo_0032606_medgen_c4748737_omim_618222 MONDO:MONDO:0032606,MedGen:C4748737,OMIM:618222 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCSTN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCSTN Acne inversa, familial, 1 mondo_mondo_0007728_medgen_c4551962_omim_142690 MONDO:MONDO:0007728,MedGen:C4551962,OMIM:142690 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1L Immunodeficiency 72 with autoinflammation mondo_mondo_0033551_medgen_c5436540_omim_618982 MONDO:MONDO:0033551,MedGen:C5436540,OMIM:618982 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN NBN-related disorder nbn_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF MYRF-related disorder myrf_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYPN Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 Freeman-Sheldon syndrome mondo_mondo_0008675_medgen_c0265224_omim_193700_orphanet_2053 MONDO:MONDO:0008675,MedGen:C0265224,OMIM:193700,Orphanet:2053 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 Arthrogryposis, distal, type 2B3 mondo_mondo_0032751_medgen_c5193098_omim_618436 MONDO:MONDO:0032751,MedGen:C5193098,OMIM:618436 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX1 Hypoplastic enamel-onycholysis-hypohidrosis syndrome mondo_mondo_0008582_medgen_c0406735_omim_189500_orphanet_2228 MONDO:MONDO:0008582,MedGen:C0406735,OMIM:189500,Orphanet:2228 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Mismatch repair cancer syndrome 1 mondo_mondo_0010159_medgen_c5399763_omim_276300_orphanet_252202 MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPLKIP Trichothiodystrophy 4, nonphotosensitive mondo_mondo_0021013_medgen_c1313961_omim_234050 MONDO:MONDO:0021013,MedGen:C1313961,OMIM:234050 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT MMUT-related disorder mmut_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP20 Amelogenesis imperfecta hypomaturation type 2A2 mondo_mondo_0012926_medgen_c2675858_omim_612529_orphanet_88661 MONDO:MONDO:0012926,MedGen:C2675858,OMIM:612529,Orphanet:88661 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP2 Multicentric osteolysis, nodulosis, and arthropathy mondo_mondo_0009809_medgen_cn322832_omim_259600 MONDO:MONDO:0009809,MedGen:CN322832,OMIM:259600 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIB1 Left ventricular noncompaction 7 mondo_mondo_0014042_medgen_c3554496_omim_615092_orphanet_54260 MONDO:MONDO:0014042,MedGen:C3554496,OMIM:615092,Orphanet:54260 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Hereditary motor and sensory neuropathy with optic atrophy mondo_mondo_0019551_medgen_c0393807_orphanet_90120 MONDO:MONDO:0019551,MedGen:C0393807,Orphanet:90120 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFF Encephalopathy due to defective mitochondrial and peroxisomal fission 2 mondo_mondo_0014905_medgen_c4310726_omim_617086_orphanet_485421 MONDO:MONDO:0014905,MedGen:C4310726,OMIM:617086,Orphanet:485421 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL23 Intellectual disability, autosomal recessive 44 mondo_mondo_0014409_medgen_c4014745_omim_615942_orphanet_88616 MONDO:MONDO:0014409,MedGen:C4014745,OMIM:615942,Orphanet:88616 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF10 Congenital myopathy 10b, mild variant mondo_mondo_0859515_medgen_c3541476_omim_620249 MONDO:MONDO:0859515,MedGen:C3541476,OMIM:620249 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV Acute febrile neutrophilic dermatosis mondo_mondo_0011959_medgen_c0085077_omim_608068_orphanet_3243 MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM MECOM-associated syndrome mondo_mondo_0100458_medgen_cn305607 MONDO:MONDO:0100458,MedGen:CN305607 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCPH1 Autosomal recessive primary microcephaly mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K1 46,XY sex reversal 6 mondo_mondo_0013410_medgen_c3151064_omim_613762 MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Cardio-facio-cutaneous syndrome mondo_mondo_0015280_medgen_c1275081_omim_ps115150_orphanet_1340 MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 Bartter disease type 5 mondo_mondo_0010503_medgen_c4310820_omim_300971_orphanet_112_orphanet_570371 MONDO:MONDO:0010503,MedGen:C4310820,OMIM:300971,Orphanet:112,Orphanet:570371 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTFL1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRSAM1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOC112694756 HNSHA due to aldolase A deficiency mondo_mondo_0012747_medgen_c0272066_omim_611881_orphanet_57 MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMAN1 Factor V and factor VIII, combined deficiency of, type 1 mondo_mondo_0009206_medgen_c4551981_omim_227300_orphanet_35909 MONDO:MONDO:0009206,MedGen:C4551981,OMIM:227300,Orphanet:35909 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LINS1 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG3 Mitochondrial DNA depletion syndrome 20 (mngie type) mondo_mondo_0030696_medgen_c5676934_omim_619780 MONDO:MONDO:0030696,MedGen:C5676934,OMIM:619780 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR Greenberg dysplasia mondo_mondo_0008974_medgen_c2931048_omim_215140_orphanet_1426 MONDO:MONDO:0008974,MedGen:C2931048,OMIM:215140,Orphanet:1426 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome mondo_mondo_0014869_medgen_c4310761_omim_617021_orphanet_528091 MONDO:MONDO:0014869,MedGen:C4310761,OMIM:617021,Orphanet:528091 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Epidermolysis bullosa simplex, Koebner type mondo_mondo_0007554_medgen_c5561924_omim_131900_orphanet_79399 MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNL1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A KMT2A-related disorder kmt2a_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD1 Scalp-ear-nipple syndrome mondo_mondo_0008404_medgen_c1867020_omim_181270_orphanet_2036 MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270,Orphanet:2036 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ16 Hypokalemic tubulopathy and deafness mondo_mondo_0859167_medgen_c5543621_omim_619406 MONDO:MONDO:0859167,MedGen:C5543621,OMIM:619406 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 Spinocerebellar ataxia type 15/16 mondo_mondo_0011694_medgen_c1847725_omim_606658_orphanet_98769 MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658,Orphanet:98769 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA8 Renal hypodysplasia/aplasia 1 mondo_mondo_0024519_medgen_c1619700_omim_191830_orphanet_411709 MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IPO8 IPO8 related Connective tissue disorder ipo8_related_connective_tissue_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR Rabson-Mendenhall syndrome mondo_mondo_0009874_medgen_c0271695_omim_262190_orphanet_769 MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7R Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RB condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL21R Cryptosporidiosis-chronic cholangitis-liver disease syndrome mondo_mondo_0014082_medgen_c3554687_omim_615207_orphanet_357329 MONDO:MONDO:0014082,MedGen:C3554687,OMIM:615207,Orphanet:357329 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 IFT74-related disorder ift74_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT43 Short-rib thoracic dysplasia 18 with polydactyly mondo_mondo_0036483_medgen_c4693420_omim_617866 MONDO:MONDO:0036483,MedGen:C4693420,OMIM:617866 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT122 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Singleton-Merten syndrome 1 mondo_mondo_0024535_medgen_c4225427_omim_182250_orphanet_85191 MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IBA57 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYAL2 HYAL2 deficiency hyal2_deficiency . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA2 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A HNF4A-related disorder hnf4a_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HLCS condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGD condition not provided condition_not_provided .|MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFM1 Premature ovarian failure 9 mondo_mondo_0014322_medgen_c3810376_omim_615724 MONDO:MONDO:0014322,MedGen:C3810376,OMIM:615724 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Developmental delay with autism spectrum disorder and gait instability mondo_mondo_0014224_medgen_c3809753_omim_615516_orphanet_329195 MONDO:MONDO:0014224,MedGen:C3809753,OMIM:615516,Orphanet:329195 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECW2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Fetal hemoglobin quantitative trait locus 1 medgen_c1841621_orphanet_251380 MedGen:C1841621,Orphanet:251380 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADH Hyperinsulinemic hypoglycemia, familial, 4 mondo_mondo_0012382_medgen_c1864948_omim_609975_orphanet_71212 MONDO:MONDO:0012382,MedGen:C1864948,OMIM:609975,Orphanet:71212 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTPBP2 Jaberi-Elahi syndrome mondo_mondo_0060711_medgen_c4693848_omim_617988 MONDO:MONDO:0060711,MedGen:C4693848,OMIM:617988 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM6 Congenital stationary night blindness 1B mondo_mondo_0009758_medgen_c1850362_omim_257270_orphanet_215 MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2D Developmental and epileptic encephalopathy, 46 mondo_mondo_0014947_medgen_c4310687_omim_617162 MONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPX4 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPI condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC4 Keipert syndrome mondo_mondo_0009720_medgen_c1850627_omim_301026_orphanet_2662 MONDO:MONDO:0009720,MedGen:C1850627,OMIM:301026,Orphanet:2662 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB GNPTAB-related disorder gnptab_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 GATA1-related disorder gata1_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAMT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXN Friedreich ataxia 1 mondo_mondo_0100340_medgen_c1856689_omim_229300_orphanet_95 MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300,Orphanet:95 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I medgen_c2931135 MedGen:C2931135 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOCAD Liver disease, severe congenital mondo_mondo_0859273_medgen_c5774195_omim_619991 MONDO:MONDO:0859273,MedGen:C5774195,OMIM:619991 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMR1 Fragile X syndrome mondo_mondo_0010383_medgen_c0016667_omim_300624_orphanet_449291_orphanet_908 MONDO:MONDO:0010383,MedGen:C0016667,OMIM:300624,Orphanet:449291,Orphanet:908 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMN2 Intellectual disability, autosomal recessive 47 mondo_mondo_0014524_medgen_c4015444_omim_616193_orphanet_88616 MONDO:MONDO:0014524,MedGen:C4015444,OMIM:616193,Orphanet:88616 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Myopathy, reducing body, X-linked, early-onset, severe mondo_mondo_0010414_medgen_c4225423_omim_300717_orphanet_97239 MONDO:MONDO:0010414,MedGen:C4225423,OMIM:300717,Orphanet:97239 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Encephalocraniocutaneous lipomatosis mondo_mondo_0013074_medgen_c0406612_omim_613001_orphanet_2396 MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD4 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA FGA-related disorder fga_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERRY3 Intellectual disability, autosomal recessive 66 mondo_mondo_0032605_medgen_c4748732_omim_618221 MONDO:MONDO:0032605,MedGen:C4748732,OMIM:618221 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCL condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F5 Ischemic stroke human_phenotype_ontology_hp_0002140_mondo_mondo_1060198_medgen_c0948008_omim_601367 Human_Phenotype_Ontology:HP:0002140,MONDO:MONDO:1060198,MedGen:C0948008,OMIM:601367 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F5 Budd-Chiari syndrome human_phenotype_ontology_hp_0002639_mondo_mondo_0010947_medgen_c0856761_omim_600880_orphanet_131 Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13B Factor XIII, b subunit, deficiency of human_phenotype_ontology_hp_0040234_mondo_mondo_0013190_medgen_c2750481_omim_613235_orphanet_331 Human_Phenotype_Ontology:HP:0040234,MONDO:MONDO:0013190,MedGen:C2750481,OMIM:613235,Orphanet:331 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6L2 Pancytopenia-developmental delay syndrome mondo_mondo_0014317_medgen_c3810350_omim_615715_orphanet_401764 MONDO:MONDO:0014317,MedGen:C3810350,OMIM:615715,Orphanet:401764 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC3 Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPS8L2 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP2 Intellectual disability, autosomal recessive 58 mondo_mondo_0014996_medgen_c4310641_omim_617270 MONDO:MONDO:0014996,MedGen:C4310641,OMIM:617270 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B3 Leukoencephalopathy with vanishing white matter 3 mondo_mondo_0957871_medgen_c5830405_omim_620313 MONDO:MONDO:0957871,MedGen:C5830405,OMIM:620313 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1A2 Intellectual disability, autosomal dominant 38 mondo_mondo_0014617_medgen_c4225343_omim_616393 MONDO:MONDO:0014617,MedGen:C4225343,OMIM:616393 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDARADD Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive mondo_mondo_0013983_medgen_c3539920_omim_614941_orphanet_238468_orphanet_248 MONDO:MONDO:0013983,MedGen:C3539920,OMIM:614941,Orphanet:238468,Orphanet:248 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2LI1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Woolly hair-skin fragility syndrome mondo_mondo_0957307_medgen_c1843292_omim_620415_orphanet_293165 MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH8 Spermatogenic failure 46 mondo_mondo_0033673_medgen_c5436799_omim_619095 MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF11 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Neurodevelopmental disorder with severe motor impairment and absent language mondo_mondo_0060622_medgen_c4540496_omim_617804_orphanet_647788 MONDO:MONDO:0060622,MedGen:C4540496,OMIM:617804,Orphanet:647788 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGUOK Portal hypertension, noncirrhotic, 1 mondo_mondo_8000013_medgen_cn305369_omim_617068 MONDO:MONDO:8000013,MedGen:CN305369,OMIM:617068 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN1 Neuronopathy, distal hereditary motor, type 7B mondo_mondo_0011879_medgen_c1843315_omim_607641_orphanet_139589 MONDO:MONDO:0011879,MedGen:C1843315,OMIM:607641,Orphanet:139589 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBNL Glycogen storage disease type X mondo_mondo_0009865_medgen_c0268149_omim_261670_orphanet_97234 MONDO:MONDO:0009865,MedGen:C0268149,OMIM:261670,Orphanet:97234 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAG1 Autosomal recessive limb-girdle muscular dystrophy type 2P mondo_mondo_0013440_medgen_c4511963_omim_613818_orphanet_280333 MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818,Orphanet:280333 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27A1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CWF19L1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSDE1 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT1A condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ4 Spastic ataxia 10, autosomal recessive mondo_mondo_0958009_medgen_c5882738_omim_620666 MONDO:MONDO:0958009,MedGen:C5882738,OMIM:620666 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG8 COG8-congenital disorder of glycosylation mondo_mondo_0012635_medgen_c1970021_omim_611182_orphanet_95428 MONDO:MONDO:0012635,MedGen:C1970021,OMIM:611182,Orphanet:95428 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP1 Lethal congenital contracture syndrome 7 mondo_mondo_0014569_medgen_c4225386_omim_616286 MONDO:MONDO:0014569,MedGen:C4225386,OMIM:616286 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM2 Renal hypomagnesemia 6 mondo_mondo_0013480_medgen_c3151295_omim_613882_orphanet_34527 MONDO:MONDO:0013480,MedGen:C3151295,OMIM:613882,Orphanet:34527 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN14 Autosomal recessive nonsyndromic hearing loss 29 mondo_mondo_0013537_medgen_c3279660_omim_614035_orphanet_90636 MONDO:MONDO:0013537,MedGen:C3279660,OMIM:614035,Orphanet:90636 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIT condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB1 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 CHD8-related disorder chd8_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAMP1 CHAMP1-related syndrome champ1_related_syndrome . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFB Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR3 condition not provided condition_not_provided . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB CDC42BPB-related neurodevelopmental syndrome cdc42bpb_related_neurodevelopmental_syndrome . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome mondo_mondo_0014757_medgen_c4225222_omim_616737_orphanet_487796 MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC20 Oocyte maturation defect 14 mondo_mondo_0859521_medgen_c5830326_omim_620276 MONDO:MONDO:0859521,MedGen:C5830326,OMIM:620276 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC14A condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD63 Pigmentary retinal dystrophy human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH RASA1-related disorder rasa1_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCND2 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC39 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 Epiphyseal dysplasia, multiple, 7 mondo_mondo_0054680_medgen_c4540251_omim_617719_orphanet_647676 MONDO:MONDO:0054680,MedGen:C4540251,OMIM:617719,Orphanet:647676 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM2 Long QT syndrome 15 mondo_mondo_0014550_medgen_c4015695_omim_616249_orphanet_101016_orphanet_768 MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM1 Catecholaminergic polymorphic ventricular tachycardia 4 mondo_mondo_0013966_medgen_c3554047_omim_614916_orphanet_3286 MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Aland island eye disease mondo_mondo_0010371_medgen_c0268505_omim_300600_orphanet_178333 MONDO:MONDO:0010371,MedGen:C0268505,OMIM:300600,Orphanet:178333 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP4 Cone-rod synaptic disorder, congenital nonprogressive mondo_mondo_0012490_medgen_c4041558_omim_610427_orphanet_215 MONDO:MONDO:0012490,MedGen:C4041558,OMIM:610427,Orphanet:215 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 Age related macular degeneration 9 mondo_mondo_0012659_medgen_c1969651_omim_611378 MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Hereditary spastic paraplegia 43 mondo_mondo_0014024_medgen_c2680446_omim_615043_orphanet_320370 MONDO:MONDO:0014024,MedGen:C2680446,OMIM:615043,Orphanet:320370 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Usher syndrome type 1D mondo_mondo_0010984_medgen_c1832845_omim_601067_orphanet_231169_orphanet_886 MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 BRIP1-related disorder brip1_related_disorder MedGen:CN239206 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1B Acromesomelic dysplasia 3 mondo_mondo_0012274_medgen_c4225404_omim_609441 MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLM BLM-related disorder blm_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 Kury-Isidor syndrome mondo_mondo_0859230_medgen_c5676925_omim_619762 MONDO:MONDO:0859230,MedGen:C5676925,OMIM:619762 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUH condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Systemic lupus erythematosus human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B1 ATP8B1-related disorder atp8b1_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B2 Hearing loss, autosomal dominant 82 mondo_mondo_0030719_medgen_c5676948_omim_619804 MONDO:MONDO:0030719,MedGen:C5676948,OMIM:619804 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A1 Charcot-Marie-tooth disease, axonal, type 2DD mondo_mondo_0054833_medgen_c4747974_omim_618036_orphanet_521414 MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A2 condition not provided condition_not_provided .|MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATAD3A Harel-Yoon syndrome mondo_mondo_0014958_medgen_c4310677_omim_617183_orphanet_496790 MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH1L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B ARID1B-related disorder arid1b_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF1 Periventricular nodular heterotopia 8 mondo_mondo_0032588_medgen_c4748602_omim_618185 MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 Hypoalphalipoproteinemia, primary, 2 mondo_mondo_0032766_medgen_c5551172_omim_618463 MONDO:MONDO:0032766,MedGen:C5551172,OMIM:618463 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1B1 Autosomal recessive keratitis-ichthyosis-deafness syndrome mondo_mondo_0009440_medgen_c1275089_omim_242150_orphanet_477 MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD26 Thrombocytopenia 2 mondo_mondo_0008555_medgen_c1861185_omim_188000_orphanet_268322 MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Hypophosphataemia or rickets hypophosphataemia_or_rickets . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG8 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDOA HNSHA due to aldolase A deficiency mondo_mondo_0012747_medgen_c0272066_omim_611881_orphanet_57 MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKR1D1 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AICDA condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGA condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADK Adenosine kinase deficiency mondo_mondo_0100255_medgen_c4706555_omim_614300_orphanet_289290_orphanet_88616 MONDO:MONDO:0100255,MedGen:C4706555,OMIM:614300,Orphanet:289290,Orphanet:88616 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSL4 Intellectual disability, X-linked 63 mondo_mondo_0010313_medgen_c1845672_omim_300387_orphanet_777 MONDO:MONDO:0010313,MedGen:C1845672,OMIM:300387,Orphanet:777 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACP4 Amelogenesis imperfecta, type 1J mondo_mondo_0015008_medgen_c4310630_omim_617297 MONDO:MONDO:0015008,MedGen:C4310630,OMIM:617297 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN ACAN-related disorder acan_related_disorder . 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD8 condition not provided condition_not_provided MedGen:C3661900 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Charcot-Marie-Tooth disease axonal type 2N mondo_mondo_0013212_medgen_c2750090_omim_613287_orphanet_228174 MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174 11 11 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP1 Female infertility due to zona pellucida defect mondo_mondo_0014342_medgen_c4014291_omim_615774_orphanet_404466 MONDO:MONDO:0014342,MedGen:C4014291,OMIM:615774,Orphanet:404466 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF711 Intellectual disability, X-linked 97 mondo_mondo_0010430_medgen_c2749020_omim_300803_orphanet_777 MONDO:MONDO:0010430,MedGen:C2749020,OMIM:300803,Orphanet:777 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF469 Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMPSTE24 Lethal tight skin contracture syndrome mondo_mondo_0031213_medgen_c0406585_omim_ps275210_orphanet_1662 MONDO:MONDO:0031213,MedGen:C0406585,OMIM:PS275210,Orphanet:1662 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFX Intellectual developmental disorder, X-linked, syndromic 37 mondo_mondo_0958322_medgen_c5935567_omim_301118 MONDO:MONDO:0958322,MedGen:C5935567,OMIM:301118 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFP57 Diabetes mellitus, transient neonatal, 1 mondo_mondo_0011073_medgen_c1832386_omim_601410_orphanet_99886 MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB11 Intellectual developmental disorder, autosomal recessive 69 mondo_mondo_0032715_medgen_c5193067_omim_618383_orphanet_699835 MONDO:MONDO:0032715,MedGen:C5193067,OMIM:618383,Orphanet:699835 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2 mondo_mondo_0013307_medgen_c3150802_omim_613561_orphanet_2598 MONDO:MONDO:0013307,MedGen:C3150802,OMIM:613561,Orphanet:2598 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XYLT1 Desbuquois dysplasia 1 mondo_mondo_0009629_medgen_c4012146_omim_251450_orphanet_1425 MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC5 Ritscher-Schinzel syndrome 1 mondo_mondo_0009073_medgen_c4551776_omim_220210_orphanet_7 MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210,Orphanet:7 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC4 Intellectual disability, autosomal recessive 43 mondo_mondo_0014354_medgen_c4014386_omim_615817_orphanet_88616 MONDO:MONDO:0014354,MedGen:C4014386,OMIM:615817,Orphanet:88616 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WARS2 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures mondo_mondo_0060578_medgen_c4540192_omim_617710_orphanet_572798 MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF von Willebrand disease type 2N mondo_mondo_0015631_medgen_c1282975_orphanet_166093 MONDO:MONDO:0015631,MedGen:C1282975,Orphanet:166093 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP53 condition not provided condition_not_provided .|MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP53 Cholestasis human_phenotype_ontology_hp_0001396_mondo_mondo_0001751_medgen_c0008370 Human_Phenotype_Ontology:HP:0001396,MONDO:MONDO:0001751,MedGen:C0008370 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC45A Osteootohepatoenteric syndrome mondo_mondo_0859164_medgen_c5543557_omim_619377 MONDO:MONDO:0859164,MedGen:C5543557,OMIM:619377 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCHL1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBG1 Complex cortical dysplasia with other brain malformations 4 mondo_mondo_0014171_medgen_c3809420_omim_615412 MONDO:MONDO:0014171,MedGen:C3809420,OMIM:615412 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Torsion dystonia 4 mondo_mondo_0007493_medgen_c1851943_omim_128101_orphanet_98805 MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUB condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRRAP condition not provided condition_not_provided .|MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIT1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP4 Spinal muscular atrophy with congenital bone fractures 1 mondo_mondo_0014806_medgen_c4225177_omim_616866 MONDO:MONDO:0014806,MedGen:C4225177,OMIM:616866 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM14 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREM2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 mondo_mondo_0020749_medgen_c4721893_omim_221770_orphanet_2770 MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770,Orphanet:2770 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF7 condition not provided condition_not_provided .|MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPK1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Premature ovarian failure 21 mondo_mondo_0957216_medgen_c5830399_omim_620311 MONDO:MONDO:0957216,MedGen:C5830399,OMIM:620311 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome mondo_mondo_0007124_medgen_c0406709_omim_106260_orphanet_1071 MONDO:MONDO:0007124,MedGen:C0406709,OMIM:106260,Orphanet:1071 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 ADULT syndrome mondo_mondo_0007072_medgen_c1863204_omim_103285_orphanet_978 MONDO:MONDO:0007072,MedGen:C1863204,OMIM:103285,Orphanet:978 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1A Arthrogryposis multiplex congenita 5 mondo_mondo_0100218_medgen_c5436453_omim_618947 MONDO:MONDO:0100218,MedGen:C5436453,OMIM:618947 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNRC6B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPPE Mucopolysaccharidosis, MPS-IV-B mondo_mondo_0009660_medgen_c0086652_omim_253010_orphanet_309310_orphanet_582 MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM151A Episodic kinesigenic dyskinesia 3 mondo_mondo_0859380_medgen_c5830280_omim_620245 MONDO:MONDO:0859380,MedGen:C5830280,OMIM:620245 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TINF2 Dyskeratosis congenita, autosomal dominant 3 mondo_mondo_0013522_medgen_c3151445_omim_613990 MONDO:MONDO:0013522,MedGen:C3151445,OMIM:613990 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIGD1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THPO condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC6 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Loeys-Dietz syndrome mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGDS Catel-Manzke syndrome mondo_mondo_0014507_medgen_c1844887_omim_616145_orphanet_1388 MONDO:MONDO:0014507,MedGen:C1844887,OMIM:616145,Orphanet:1388 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2B Char syndrome mondo_mondo_0008209_medgen_c1868570_omim_169100_orphanet_46627 MONDO:MONDO:0008209,MedGen:C1868570,OMIM:169100,Orphanet:46627 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERC Aplastic anemia human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECPR2 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN3 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCN2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Hypogonadotropic hypogonadism 26 with or without anosmia mondo_mondo_0030534_medgen_c5676903_omim_619718 MONDO:MONDO:0030534,MedGen:C5676903,OMIM:619718 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX19 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACR3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACO1 Mitochondrial complex IV deficiency, nuclear type 8 mondo_mondo_0033638_medgen_c5436689_omim_619052 MONDO:MONDO:0033638,MedGen:C5436689,OMIM:619052 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNJ1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STING1 STING-associated vasculopathy with onset in infancy mondo_mondo_0014405_medgen_c4014722_omim_615934_orphanet_425120 MONDO:MONDO:0014405,MedGen:C4014722,OMIM:615934,Orphanet:425120 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRSF1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRSF1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Neuronopathy, distal hereditary motor, autosomal dominant 11 mondo_mondo_0957875_medgen_c5882697_omim_620528 MONDO:MONDO:0957875,MedGen:C5882697,OMIM:620528 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG8 Tall stature-scoliosis-macrodactyly of the great toes syndrome mondo_mondo_0014401_medgen_c4014690_omim_615923_orphanet_329191 MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923,Orphanet:329191 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 SOX10-related disorder sox10_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRNP200 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Acid sphingomyelinase deficiency mondo_mondo_0100464_medgen_c5243927_orphanet_618899 MONDO:MONDO:0100464,MedGen:C5243927,Orphanet:618899 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG8 Alzahrani-Kuwahara syndrome mondo_mondo_0859136_medgen_c5543274_omim_619268 MONDO:MONDO:0859136,MedGen:C5543274,OMIM:619268 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 Cystine urolithiasis medgen_c3671878 MedGen:C3671878 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35C1 Leukocyte adhesion deficiency type II mondo_mondo_0009953_medgen_c0398739_omim_266265_orphanet_2968_orphanet_99843 MONDO:MONDO:0009953,MedGen:C0398739,OMIM:266265,Orphanet:2968,Orphanet:99843 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A9 Hypouricemia, renal, 2 mondo_mondo_0012793_medgen_c2677549_omim_612076 MONDO:MONDO:0012793,MedGen:C2677549,OMIM:612076 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A20 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A19 Progressive demyelinating neuropathy with bilateral striatal necrosis mondo_mondo_0013382_medgen_c3150973_omim_613710_orphanet_217396 MONDO:MONDO:0013382,MedGen:C3150973,OMIM:613710,Orphanet:217396 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIAH1 Buratti-Harel syndrome mondo_mondo_0859144_medgen_c5543351_omim_619314 MONDO:MONDO:0859144,MedGen:C5543351,OMIM:619314 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFXN4 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome mondo_mondo_0014261_medgen_c3810001_omim_615578_orphanet_391348 MONDO:MONDO:0014261,MedGen:C3810001,OMIM:615578,Orphanet:391348 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPC condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A Epilepsy, early-onset, with or without developmental delay mondo_mondo_0030005_medgen_c5882670_omim_618832 MONDO:MONDO:0030005,MedGen:C5882670,OMIM:618832 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Mitochondrial complex 2 deficiency, nuclear type 3 mondo_mondo_0030937_medgen_c5436934_omim_619167 MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Inherited phaeochromocytoma and paraganglioma excluding NF1 inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHAF2 Pheochromocytoma/paraganglioma syndrome 2 mondo_mondo_0011121_medgen_c1866552_omim_601650_orphanet_29072 MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650,Orphanet:29072 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Gastrointestinal stromal tumor human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A SCN4A-related non-dystrophic myotonia scn4a_related_non_dystrophic_myotonia . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 SATB2-related disorder satb2_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Catecholaminergic polymorphic ventricular tachycardia mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Pulmonary fibrosis human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNPC3 Isolated growth hormone deficiency, type 5 mondo_mondo_0032569_medgen_c4748435_omim_618160 MONDO:MONDO:0032569,MedGen:C4748435,OMIM:618160 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIM Intellectual disability, X-linked 61 mondo_mondo_0010506_medgen_c4283894_omim_300978 MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Senior-Loken syndrome 6 mondo_mondo_0012433_medgen_c1857779_omim_610189_orphanet_3156 MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Meckel syndrome, type 4 mondo_mondo_0012626_medgen_c1970161_omim_611134_orphanet_564 MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Leber congenital amaurosis 10 mondo_mondo_0012723_medgen_c1857821_omim_611755_orphanet_65 MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Newfoundland cone-rod dystrophy mondo_mondo_0011839_medgen_c1843815_omim_607476 MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIC3 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX7 Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities mondo_mondo_0957228_medgen_c5830437_omim_620330 MONDO:MONDO:0957228,MedGen:C5830437,OMIM:620330 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX5 MHC class II deficiency 3 mondo_mondo_0971014_medgen_c1859536_omim_620816 MONDO:MONDO:0971014,MedGen:C1859536,OMIM:620816 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 RECQL4-related disorder recql4_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARB condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALGAPA1 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation mondo_mondo_0032921_medgen_c5394091_omim_618797 MONDO:MONDO:0032921,MedGen:C5394091,OMIM:618797 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33B Smith-McCort dysplasia 2 mondo_mondo_0014087_medgen_c3714896_omim_615222 MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB27A condition not provided condition_not_provided .|MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTHLH condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTHLH Brachydactyly type E2 mondo_mondo_0013244_medgen_c3150644_omim_613382_orphanet_93387 MONDO:MONDO:0013244,MedGen:C3150644,OMIM:613382,Orphanet:93387 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN2 Alzheimer disease 4 mondo_mondo_0011743_medgen_c1847200_omim_606889_orphanet_1020 MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS1 Hereditary pancreatitis mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 Hearing loss, X-linked 1 mondo_mondo_0010577_medgen_c1844677_omim_304500_orphanet_90625 MONDO:MONDO:0010577,MedGen:C1844677,OMIM:304500,Orphanet:90625 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 Charcot-Marie-Tooth Neuropathy X charcot_marie_tooth_neuropathy_x MedGen:CN118851 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Pigmentary retinal dystrophy human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia mondo_mondo_0009482_medgen_c3550478_omim_244200_orphanet_478 MONDO:MONDO:0009482,MedGen:C3550478,OMIM:244200,Orphanet:478 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRG4 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRCD condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 Long telomere syndrome long_telomere_syndrome . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMC Obesity due to pro-opiomelanocortin deficiency mondo_mondo_0012335_medgen_c1857854_omim_609734_orphanet_71526 MONDO:MONDO:0012335,MedGen:C1857854,OMIM:609734,Orphanet:71526 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F SOX10-related disorder sox10_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP PNKP-related disorder pnkp_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Hereditary liability to pressure palsies mondo_mondo_0008087_medgen_c0393814_omim_162500_orphanet_640 MONDO:MONDO:0008087,MedGen:C0393814,OMIM:162500,Orphanet:640 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Dilated cardiomyopathy 1P mondo_mondo_0012362_medgen_c1835928_omim_609909_orphanet_154 MONDO:MONDO:0012362,MedGen:C1835928,OMIM:609909,Orphanet:154 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGB Developmental and epileptic encephalopathy, 80 mondo_mondo_0032822_medgen_c5231418_omim_618580 MONDO:MONDO:0032822,MedGen:C5231418,OMIM:618580 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGA Paroxysmal nocturnal hemoglobinuria human_phenotype_ontology_hp_0004818_mondo_mondo_0100244_medgen_c0024790_omim_ps300818_orphanet_447 Human_Phenotype_Ontology:HP:0004818,MONDO:MONDO:0100244,MedGen:C0024790,OMIM:PS300818,Orphanet:447 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 PIEZO2-related disorder piezo2_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 PIEZO1-related disorder piezo1_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B Neuroblastoma, susceptibility to, 2 mondo_mondo_0700041_medgen_c2751682_omim_613013_orphanet_635 MONDO:MONDO:0700041,MedGen:C2751682,OMIM:613013,Orphanet:635 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKB Glycogen phosphorylase kinase deficiency mondo_mondo_0700291_medgen_c0268147_orphanet_370 MONDO:MONDO:0700291,MedGen:C0268147,Orphanet:370 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP PHIP-related disorder phip_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 PEX6-related disorder pex6_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX2 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCYT2 Spastic paraplegia 82, autosomal recessive mondo_mondo_0032906_medgen_c5394037_omim_618770_orphanet_631073 MONDO:MONDO:0032906,MedGen:C5394037,OMIM:618770,Orphanet:631073 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK9 Hypercholesterolemia, autosomal dominant, 3 mondo_mondo_0011369_medgen_c1863551_omim_603776 MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK1 PCSK1-related disorder pcsk1_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGC4 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGC3 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB7 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB6 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB5 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB4 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB3 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB2 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGA8 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGA12 Neurodevelopmental disorder with poor growth and skeletal anomalies mondo_mondo_0859252_medgen_c5676990_omim_619880 MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H2 Myopia, high, with cataract and vitreoretinal degeneration mondo_mondo_0013670_medgen_c3280346_omim_614292 MONDO:MONDO:0013670,MedGen:C3280346,OMIM:614292 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD6B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC6 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUBPL Mitochondrial complex I deficiency, nuclear type 21 mondo_mondo_0032625_medgen_c4748792_omim_618242 MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOVA2 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities mondo_mondo_0030024_medgen_c5394311_omim_618859 MONDO:MONDO:0030024,MedGen:C5394311,OMIM:618859 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPAL4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKBIA Ectodermal dysplasia and immunodeficiency 2 mondo_mondo_0012806_medgen_c2677481_omim_612132_orphanet_238468_orphanet_98813 MONDO:MONDO:0012806,MedGen:C2677481,OMIM:612132,Orphanet:238468,Orphanet:98813 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB1 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFASC Neurodevelopmental disorder with central and peripheral motor dysfunction mondo_mondo_0032698_medgen_c5193049_omim_618356 MONDO:MONDO:0032698,MedGen:C5193049,OMIM:618356 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROG3 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK8 Polycystic kidney disease 8 mondo_mondo_0971178_medgen_c5935640_omim_620903 MONDO:MONDO:0971178,MedGen:C5935640,OMIM:620903 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Charcot-Marie-Tooth disease type 1F mondo_mondo_0011902_medgen_c1843164_omim_607734_orphanet_101085 MONDO:MONDO:0011902,MedGen:C1843164,OMIM:607734,Orphanet:101085 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS7 Mitochondrial complex I deficiency, nuclear type 3 mondo_mondo_0032608_medgen_c4748752_omim_618224 MONDO:MONDO:0032608,MedGen:C4748752,OMIM:618224 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS6 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS2 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF5 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA9 Mitochondrial complex I deficiency, nuclear type 26 mondo_mondo_0032630_medgen_c4748809_omim_618247 MONDO:MONDO:0032630,MedGen:C4748809,OMIM:618247 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA12 Mitochondrial complex I deficiency, nuclear type 23 mondo_mondo_0032627_medgen_c4748799_omim_618244 MONDO:MONDO:0032627,MedGen:C4748799,OMIM:618244 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Exudative vitreoretinopathy 2, X-linked mondo_mondo_0010588_medgen_c1844579_omim_305390_orphanet_891 MONDO:MONDO:0010588,MedGen:C1844579,OMIM:305390,Orphanet:891 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF1 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 mondo_mondo_0009309_medgen_c1856251_omim_233700_orphanet_379 MONDO:MONDO:0009309,MedGen:C1856251,OMIM:233700,Orphanet:379 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAXE Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 mondo_mondo_0020781_medgen_c4310675_omim_617186_orphanet_555407 MONDO:MONDO:0020781,MedGen:C4310675,OMIM:617186,Orphanet:555407 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS1 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities mondo_mondo_0100348_medgen_c5436783_omim_619091 MONDO:MONDO:0100348,MedGen:C5436783,OMIM:619091 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NANS condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NADSYN1 Vertebral, cardiac, renal, and limb defects syndrome 3 mondo_mondo_0030077_medgen_c5394250_omim_618845 MONDO:MONDO:0030077,MedGen:C5394250,OMIM:618845 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5B Cholestasis, progressive familial intrahepatic, 10 mondo_mondo_0030810_medgen_c5676981_omim_619868 MONDO:MONDO:0030810,MedGen:C5676981,OMIM:619868 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRR condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR CEBALID syndrome mondo_mondo_0032908_medgen_c5394044_omim_618774_orphanet_693549 MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774,Orphanet:693549 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSTO1 condition not provided condition_not_provided .|MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL MPL-related disorder mpl_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP2 Multicentric osteolysis nodulosis arthropathy spectrum mondo_mondo_0018298_medgen_c1850155_orphanet_3460_orphanet_371428 MONDO:MONDO:0018298,MedGen:C1850155,Orphanet:3460,Orphanet:371428 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGME1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Neuropathy, hereditary motor and sensory, type 6A mondo_mondo_0011002_medgen_cn305336_omim_601152 MONDO:MONDO:0011002,MedGen:CN305336,OMIM:601152 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL23 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV Familial Mediterranean fever, autosomal dominant mondo_mondo_0007601_medgen_c1851347_omim_134610_orphanet_342 MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 MED12-related disorder med12_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECR Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities mondo_mondo_0015003_medgen_c4310634_omim_617282_orphanet_508093 MONDO:MONDO:0015003,MedGen:C4310634,OMIM:617282,Orphanet:508093 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MADD Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia mondo_mondo_0033562_medgen_c5436585_omim_619005 MONDO:MONDO:0033562,MedGen:C5436585,OMIM:619005 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTFL1 Bardet-Biedl syndrome 17 mondo_mondo_0014445_medgen_c3714980_omim_615994_orphanet_110 MONDO:MONDO:0014445,MedGen:C3714980,OMIM:615994,Orphanet:110 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Glaucoma 3, primary congenital, D mondo_mondo_0013122_medgen_c2751316_omim_613086_orphanet_98976 MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRSAM1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 HRAS-related disorder hras_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Epidermal nevus human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRMDA condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LONP2 Buratti-Harel syndrome mondo_mondo_0859144_medgen_c5543351_omim_619314 MONDO:MONDO:0859144,MedGen:C5543351,OMIM:619314 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLRAP1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLRAP1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 KRT5-related disorder krt5_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT2 Ichthyosis bullosa of Siemens mondo_mondo_0007813_medgen_c0432306_omim_146800_orphanet_455 MONDO:MONDO:0007813,MedGen:C0432306,OMIM:146800,Orphanet:455 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Epidermolytic hyperkeratosis 2A, autosomal dominant mondo_mondo_0700248_medgen_c5882671_omim_620150 MONDO:MONDO:0700248,MedGen:C5882671,OMIM:620150 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Congenital reticular ichthyosiform erythroderma mondo_mondo_0012208_medgen_c3665704_omim_609165_orphanet_281190 MONDO:MONDO:0012208,MedGen:C3665704,OMIM:609165,Orphanet:281190 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS KRAS-related disorder kras_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNL1 Microcephaly 4, primary, autosomal recessive mondo_mondo_0011437_medgen_c1858516_omim_604321_orphanet_2512 MONDO:MONDO:0011437,MedGen:C1858516,OMIM:604321,Orphanet:2512 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF1 BLOOD GROUP--LUTHERAN INHIBITOR medgen_c1292231_omim_111150 MedGen:C1292231,OMIM:111150 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5C Complex cortical dysplasia with other brain malformations 2 mondo_mondo_0014116_medgen_c3809013_omim_615282 MONDO:MONDO:0014116,MedGen:C3809013,OMIM:615282 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF21A Congenital fibrosis of extraocular muscles type 1 mondo_mondo_0021083_medgen_c1851102_omim_135700 MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A KIF1A-related disorder kif1a_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0753 Short-rib thoracic dysplasia 21 without polydactyly mondo_mondo_0030356_medgen_c5561961_omim_619479 MONDO:MONDO:0030356,MedGen:C5561961,OMIM:619479 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KERA Cornea plana 2 mondo_mondo_0009014_medgen_c1857574_omim_217300_orphanet_53691 MONDO:MONDO:0009014,MedGen:C1857574,OMIM:217300,Orphanet:53691 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM2B condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities mondo_mondo_0859225_medgen_c5676908_omim_619725 MONDO:MONDO:0859225,MedGen:C5676908,OMIM:619725 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 Zimmermann-Laband syndrome 1 mondo_mondo_0024526_medgen_c4551773_omim_135500_orphanet_3473 MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500,Orphanet:3473 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JMJD8 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Neonatal diabetes mellitus mondo_mondo_0016391_medgen_c0158981_orphanet_224 MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5K Congenital muscular dystrophy with cataracts and intellectual disability mondo_mondo_0024607_medgen_c4479410_omim_617404_orphanet_662184 MONDO:MONDO:0024607,MedGen:C4479410,OMIM:617404,Orphanet:662184 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Vitelliform macular dystrophy 5 mondo_mondo_0014509_medgen_c4015343_omim_616152_orphanet_99000 MONDO:MONDO:0014509,MedGen:C4015343,OMIM:616152,Orphanet:99000 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL36RN Generalized pustular psoriasis mondo_mondo_0100491_medgen_c0343055_orphanet_247353 MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RAPL1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL11RA Craniosynostosis and dental anomalies mondo_mondo_0013615_medgen_c3280073_omim_614188_orphanet_284149 MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188,Orphanet:284149 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKZF1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Immunodeficiency 33 mondo_mondo_0010386_medgen_c1970879_omim_300636_orphanet_319605_orphanet_319612 MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT43 Cranioectodermal dysplasia 3 mondo_mondo_0013573_medgen_c3279807_omim_614099_orphanet_1515 MONDO:MONDO:0013573,MedGen:C3279807,OMIM:614099,Orphanet:1515 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR2 Immunodeficiency 28 mondo_mondo_0013953_medgen_c4013947_omim_614889_orphanet_319547_orphanet_319574 MONDO:MONDO:0013953,MedGen:C4013947,OMIM:614889,Orphanet:319547,Orphanet:319574 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS HRAS-related disorder hras_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Epidermal nevus human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPSE2 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN2 HCN2 related developmental and epileptic encephalopathy hcn2_related_developmental_and_epileptic_encephalopathy . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCCS Linear skin defects with multiple congenital anomalies 1 mondo_mondo_0024552_medgen_c0796070_omim_309801_orphanet_2556 MONDO:MONDO:0024552,MedGen:C0796070,OMIM:309801,Orphanet:2556 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACD1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR1 Autosomal recessive nonsyndromic hearing loss 25 mondo_mondo_0013210_medgen_c1414017_omim_613285_orphanet_90636 MONDO:MONDO:0013210,MedGen:C1414017,OMIM:613285,Orphanet:90636 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL3 Van der Woude syndrome 2 mondo_mondo_0011712_medgen_c1847604_omim_606713_orphanet_888 MONDO:MONDO:0011712,MedGen:C1847604,OMIM:606713,Orphanet:888 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUD1 Hyperinsulinism-hyperammonemia syndrome mondo_mondo_0011717_medgen_c1847555_omim_606762_orphanet_35878 MONDO:MONDO:0011717,MedGen:C1847555,OMIM:606762,Orphanet:35878 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GK Inborn glycerol kinase deficiency human_phenotype_ontology_hp_0040302_mondo_mondo_0010613_medgen_c0268418_omim_307030_orphanet_308993_orphanet_408 Human_Phenotype_Ontology:HP:0040302,MONDO:MONDO:0010613,MedGen:C0268418,OMIM:307030,Orphanet:308993,Orphanet:408 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFPT1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM2 Combined oxidative phosphorylation deficiency 39 mondo_mondo_0032726_medgen_c5193075_omim_618397_orphanet_565624 MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397,Orphanet:565624 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDI1 Intellectual disability, X-linked 41 mondo_mondo_0010451_medgen_c3887939_omim_300849_orphanet_777 MONDO:MONDO:0010451,MedGen:C3887939,OMIM:300849,Orphanet:777 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Brachydactyly type C human_phenotype_ontology_hp_0009373_mondo_mondo_0007221_medgen_c1862103_omim_113100_orphanet_93384 Human_Phenotype_Ontology:HP:0009373,MONDO:MONDO:0007221,MedGen:C1862103,OMIM:113100,Orphanet:93384 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Right atrial isomerism human_phenotype_ontology_hp_0011536_mondo_mondo_0008832_medgen_c3178806_omim_208530_orphanet_97548 Human_Phenotype_Ontology:HP:0011536,MONDO:MONDO:0008832,MedGen:C3178806,OMIM:208530,Orphanet:97548 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Permanent neonatal diabetes mellitus mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 GBA1-related disorder gba1_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 Charcot-Marie-Tooth disease type 2D mondo_mondo_0011091_medgen_c1832274_omim_601472_orphanet_99938 MONDO:MONDO:0011091,MedGen:C1832274,OMIM:601472,Orphanet:99938 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRA10AC1 Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities mondo_mondo_0859312_medgen_c5774251_omim_620113 MONDO:MONDO:0859312,MedGen:C5774251,OMIM:620113 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOLR1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT4 FLT4-related disorder flt4_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN 17p11.2 microduplication syndrome gene_100038247_mondo_mondo_0012574_medgen_c2931246_omim_610883_orphanet_1713 Gene:100038247,MONDO:MONDO:0012574,MedGen:C2931246,OMIM:610883,Orphanet:1713 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Levy-Hollister syndrome mondo_mondo_0007872_medgen_c0265269_omim_ps149730_orphanet_2363 MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730,Orphanet:2363 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETHE1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESRRB Autosomal recessive nonsyndromic hearing loss 35 mondo_mondo_0012060_medgen_c1837857_omim_608565_orphanet_90636 MONDO:MONDO:0012060,MedGen:C1837857,OMIM:608565,Orphanet:90636 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPRS1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Rubinstein-Taybi syndrome due to CREBBP mutations mondo_mondo_0008393_medgen_c4551859_omim_180849_orphanet_353277_orphanet_783 MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELN Cutis laxa, autosomal dominant 1 mondo_mondo_0007411_medgen_c3276539_omim_123700_orphanet_90348 MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700,Orphanet:90348 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELAC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B4 Vanishing white matter disease mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EED Cohen-Gibson syndrome mondo_mondo_0060510_medgen_c4479654_omim_617561_orphanet_659396 MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561,Orphanet:659396 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DTNBP1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Heyn-Sproul-Jackson syndrome mondo_mondo_0032882_medgen_c5231475_omim_618724_orphanet_658595 MONDO:MONDO:0032882,MedGen:C5231475,OMIM:618724,Orphanet:658595 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A DNMT3A-related disorder dnmt3a_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNASE1L3 Autosomal systemic lupus erythematosus type 16 mondo_mondo_0013743_medgen_c3280742_omim_614420_orphanet_300345 MONDO:MONDO:0013743,MedGen:C3280742,OMIM:614420,Orphanet:300345 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF5 Primary ciliary dyskinesia 18 mondo_mondo_0013940_medgen_c3543825_omim_614874_orphanet_244 MONDO:MONDO:0013940,MedGen:C3543825,OMIM:614874,Orphanet:244 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DKC1 Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 condition not provided condition_not_provided .|MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHFR Familial adenomatous polyposis 4 mondo_mondo_0044300_medgen_c4310719_omim_617100_orphanet_480536 MONDO:MONDO:0044300,MedGen:C4310719,OMIM:617100,Orphanet:480536 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHDDS Developmental delay and seizures with or without movement abnormalities mondo_mondo_0044326_medgen_c4693376_omim_617836 MONDO:MONDO:0044326,MedGen:C4693376,OMIM:617836 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Neurogenic scapuloperoneal syndrome, Kaeser type mondo_mondo_0008407_medgen_c1867005_omim_181400_orphanet_85146 MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400,Orphanet:85146 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X DDX3X-related disorder ddx3x_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN1 Amyotrophic lateral sclerosis type 1 mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCT Oculocutaneous albinism type 8 mondo_mondo_0030899_medgen_c5436929_omim_619165_orphanet_597733 MONDO:MONDO:0030899,MedGen:C5436929,OMIM:619165,Orphanet:597733 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Glaucoma 3, primary infantile, B mondo_mondo_0010968_medgen_c1832977_omim_600975_orphanet_98976 MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYGB condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBA condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB5R3 METHEMOGLOBINEMIA, TYPE II medgen_c2749560 MedGen:C2749560 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTR9 CTR9-related neurodevelopmental disorder mondo_mondo_1040006_medgen_cn378764 MONDO:MONDO:1040006,MedGen:CN378764 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSGALNACT1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGD Cataract 4 multiple types mondo_mondo_0007281_medgen_c3540850_omim_115700_orphanet_1377 MONDO:MONDO:0007281,MedGen:C3540850,OMIM:115700,Orphanet:1377 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGD Aculeiform cataract human_phenotype_ontology_hp_0010926_medgen_c1861832 Human_Phenotype_Ontology:HP:0010926,MedGen:C1861832 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB1 Cataract 17 multiple types mondo_mondo_0012688_medgen_c3888124_omim_611544_orphanet_91492 MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA4 Cataract 17 multiple types mondo_mondo_0012688_medgen_c3888124_omim_611544_orphanet_91492 MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREB3L1 Osteogenesis imperfecta type 16 mondo_mondo_0014544_medgen_c4015610_omim_616229_orphanet_666 MONDO:MONDO:0014544,MedGen:C4015610,OMIM:616229,Orphanet:666 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Stickler syndrome, type 6 mondo_mondo_0031047_medgen_c5774207_omim_620022 MONDO:MONDO:0031047,MedGen:C5774207,OMIM:620022 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Epiphyseal dysplasia, multiple, 3 mondo_mondo_0010964_medgen_c1832998_omim_600969 MONDO:MONDO:0010964,MedGen:C1832998,OMIM:600969 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Bethlem myopathy 1C mondo_mondo_0958234_medgen_c5935581_omim_620726 MONDO:MONDO:0958234,MedGen:C5935581,OMIM:620726 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Ehlers-Danlos syndrome, classic type mondo_mondo_0007522_medgen_c4225429_orphanet_287 MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 COL11A2-related disorder col11a2_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Fibrochondrogenesis 1 mondo_mondo_0009226_medgen_c3278138_omim_228520_orphanet_2021 MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orphanet:2021 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN2 CLCN2-related disorder clcn2_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST14 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Congenital myasthenic syndrome 3B mondo_mondo_0014584_medgen_c4225371_omim_616322_orphanet_590 MONDO:MONDO:0014584,MedGen:C4225371,OMIM:616322,Orphanet:590 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA3 Urinary bladder, atony of mondo_mondo_0008630_medgen_c5231389_omim_191800 MONDO:MONDO:0008630,MedGen:C5231389,OMIM:191800 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Myasthenic syndrome, congenital, 1B, fast-channel mondo_mondo_0012156_medgen_c4225405_omim_608930_orphanet_590 MONDO:MONDO:0012156,MedGen:C4225405,OMIM:608930,Orphanet:590 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHN1 Duane retraction syndrome 2 mondo_mondo_0011444_medgen_c0751083_omim_604356_orphanet_233 MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356,Orphanet:233 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP74 Ciliary dyskinesia, primary, 49, without situs inversus mondo_mondo_0859353_medgen_c5774291_omim_620197 MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP44 Spermatogenic failure 20 mondo_mondo_0054724_medgen_c4539824_omim_617593 MONDO:MONDO:0054724,MedGen:C4539824,OMIM:617593 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP300 Ciliary dyskinesia, primary, 38 mondo_mondo_0054843_medgen_c4748052_omim_618063 MONDO:MONDO:0054843,MedGen:C4748052,OMIM:618063 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP251 Spermatogenic failure 33 mondo_mondo_0029147_medgen_c4748395_omim_618152 MONDO:MONDO:0029147,MedGen:C4748395,OMIM:618152 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS3 Autosomal recessive congenital ichthyosis 9 mondo_mondo_0014010_medgen_c3554349_omim_615023_orphanet_79394 MONDO:MONDO:0014010,MedGen:C3554349,OMIM:615023,Orphanet:79394 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Right atrial isomerism human_phenotype_ontology_hp_0011536_mondo_mondo_0008832_medgen_c3178806_omim_208530_orphanet_97548 Human_Phenotype_Ontology:HP:0011536,MONDO:MONDO:0008832,MedGen:C3178806,OMIM:208530,Orphanet:97548 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Dilated cardiomyopathy 1P mondo_mondo_0012362_medgen_c1835928_omim_609909_orphanet_154 MONDO:MONDO:0012362,MedGen:C1835928,OMIM:609909,Orphanet:154 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELF2 Developmental and epileptic encephalopathy 97 mondo_mondo_0030453_medgen_c5561999_omim_619561 MONDO:MONDO:0030453,MedGen:C5561999,OMIM:619561 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDT1 Meier-Gorlin syndrome 4 mondo_mondo_0013431_medgen_c3151120_omim_613804_orphanet_2554 MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Retinoschisis human_phenotype_ontology_hp_0030502_mondo_mondo_0004579_medgen_c0152439 Human_Phenotype_Ontology:HP:0030502,MONDO:MONDO:0004579,MedGen:C0152439 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 CDH23-related disorder cdh23_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC14A Autosomal recessive nonsyndromic hearing loss 32 mondo_mondo_0012091_medgen_c1837608_omim_608653_orphanet_90636 MONDO:MONDO:0012091,MedGen:C1837608,OMIM:608653,Orphanet:90636 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDAN1 Congenital dyserythropoietic anemia, type I mondo_mondo_0020337_medgen_c0271933_orphanet_98869 MONDO:MONDO:0020337,MedGen:C0271933,Orphanet:98869 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD55 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome mondo_mondo_0009174_medgen_c4538570_omim_226300_orphanet_566175 MONDO:MONDO:0009174,MedGen:C4538570,OMIM:226300,Orphanet:566175 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD40 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 mondo_mondo_0014408_medgen_c4014742_omim_615938_orphanet_83473 MONDO:MONDO:0014408,MedGen:C4014742,OMIM:615938,Orphanet:83473 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAST PCSK1-related disorder pcsk1_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 Psoriasis 2 mondo_mondo_0011269_medgen_c1864497_omim_602723 MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits mondo_mondo_0060758_medgen_c4748120_omim_618087 MONDO:MONDO:0060758,MedGen:C4748120,OMIM:618087 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1E Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA8 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 mondo_mondo_0013188_medgen_c2750509_omim_613227_orphanet_1766 MONDO:MONDO:0013188,MedGen:C2750509,OMIM:613227,Orphanet:1766 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C8B Type II complement component 8 deficiency mondo_mondo_0013421_medgen_c3151080_omim_613789 MONDO:MONDO:0013421,MedGen:C3151080,OMIM:613789 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C5 Complement component 5 deficiency mondo_mondo_0012295_medgen_c0343047_omim_609536 MONDO:MONDO:0012295,MedGen:C0343047,OMIM:609536 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QA condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Breast cancer, susceptibility to medgen_c3469522 MedGen:C3469522 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1B Premature chromatid separation trait mondo_mondo_0008304_medgen_c1864389_omim_176430 MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPER condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPER Diaphanospondylodysostosis mondo_mondo_0011946_medgen_c1842691_omim_608022_orphanet_66637 MONDO:MONDO:0011946,MedGen:C1842691,OMIM:608022,Orphanet:66637 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP2 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 mondo_mondo_0100297_medgen_c5542952_omim_617877 MONDO:MONDO:0100297,MedGen:C5542952,OMIM:617877 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6AP1 Immunodeficiency 47 mondo_mondo_0010504_medgen_c4310819_omim_300972_orphanet_692790 MONDO:MONDO:0010504,MedGen:C4310819,OMIM:300972,Orphanet:692790 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATAD3A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARV1 Developmental and epileptic encephalopathy, 38 mondo_mondo_0014868_medgen_c4310762_omim_617020 MONDO:MONDO:0014868,MedGen:C4310762,OMIM:617020 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR AR-related disorder ar_related_disorder . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Familial type 3 hyperlipoproteinemia mondo_mondo_0018473_medgen_c0020479_omim_617347_orphanet_412 MONDO:MONDO:0018473,MedGen:C0020479,OMIM:617347,Orphanet:412 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 Familial amyloid polyneuropathy, Iowa type mondo_mondo_0971008_medgen_c4551500_omim_620657 MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 Hereditary spastic paraplegia 52 mondo_mondo_0013552_medgen_c3279743_omim_614067_orphanet_280763 MONDO:MONDO:0013552,MedGen:C3279743,OMIM:614067,Orphanet:280763 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD17 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK3 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 mondo_mondo_0014407_medgen_c4014738_omim_615937_orphanet_83473 MONDO:MONDO:0014407,MedGen:C4014738,OMIM:615937,Orphanet:83473 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AK1 Hemolytic anemia due to adenylate kinase deficiency mondo_mondo_0012967_medgen_c2675459_omim_612631_orphanet_86817 MONDO:MONDO:0012967,MedGen:C2675459,OMIM:612631,Orphanet:86817 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIMP1 Hypomyelinating leukodystrophy 3 mondo_mondo_0009843_medgen_c1850053_omim_260600_orphanet_280270_orphanet_280293 MONDO:MONDO:0009843,MedGen:C1850053,OMIM:260600,Orphanet:280270,Orphanet:280293 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2B Neurodevelopmental disorder with hearing loss and spasticity mondo_mondo_0859206_medgen_c5562024_omim_619616_orphanet_659975 MONDO:MONDO:0859206,MedGen:C5562024,OMIM:619616,Orphanet:659975 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSS1 Myopathy, distal, 5 mondo_mondo_0014877_medgen_c5567521_omim_617030_orphanet_482601 MONDO:MONDO:0014877,MedGen:C5567521,OMIM:617030,Orphanet:482601 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVR1 Progressive myositis ossificans mondo_mondo_0007606_medgen_c0016037_omim_135100_orphanet_337 MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B ACTL6B-related recessive epilepsy actl6b_related_recessive_epilepsy . 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Congenital myopathy 2b, severe infantile, autosomal recessive mondo_mondo_0859517_medgen_c5830300_omim_620265 MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Spondyloepimetaphyseal dysplasia, aggrecan type mondo_mondo_0013014_medgen_c2748544_omim_612813_orphanet_171866 MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 condition not provided condition_not_provided MedGen:C3661900 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA2 Intellectual developmental disorder with poor growth and with or without seizures or ataxia mondo_mondo_0032930_medgen_c5394135_omim_618808 MONDO:MONDO:0032930,MedGen:C5394135,OMIM:618808 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Hypoalphalipoproteinemia, primary, 1 mondo_mondo_0011393_medgen_c5231558_omim_604091_orphanet_425 MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAGAB Palmoplantar keratoderma, punctate type 1A mondo_mondo_0007858_medgen_cn031225_omim_148600_orphanet_79501 MONDO:MONDO:0007858,MedGen:CN031225,OMIM:148600,Orphanet:79501 10 10 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFPM2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Developmental and epileptic encephalopathy, 56 mondo_mondo_0033365_medgen_c4540034_omim_617665 MONDO:MONDO:0033365,MedGen:C4540034,OMIM:617665 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XYLT2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XK McLeod neuroacanthocytosis syndrome mondo_mondo_0018945_medgen_c0398568_omim_300842_orphanet_59306 MONDO:MONDO:0018945,MedGen:C0398568,OMIM:300842,Orphanet:59306 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR4 Galloway-Mowat syndrome 6 mondo_mondo_0032691_medgen_c5193043_omim_618347 MONDO:MONDO:0032691,MedGen:C5193043,OMIM:618347 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Neurooculocardiogenitourinary syndrome mondo_mondo_0032850_medgen_c5231443_omim_618652_orphanet_684305 MONDO:MONDO:0032850,MedGen:C5231443,OMIM:618652,Orphanet:684305 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS41 Spinocerebellar ataxia, autosomal recessive 29 mondo_mondo_0030312_medgen_c5543595_omim_619389 MONDO:MONDO:0030312,MedGen:C5543595,OMIM:619389 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAC14 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 Crigler-Najjar syndrome mondo_mondo_0009044_medgen_c5551003_orphanet_205 MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP2L Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies mondo_mondo_0957588_medgen_c5882686_omim_620494 MONDO:MONDO:0957588,MedGen:C5882686,OMIM:620494 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TXNL4A Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome mondo_mondo_0012064_medgen_c1837822_omim_608572_orphanet_1200 MONDO:MONDO:0012064,MedGen:C1837822,OMIM:608572,Orphanet:1200 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHB Isolated thyroid-stimulating hormone deficiency mondo_mondo_0010139_medgen_c0271789_omim_275100_orphanet_90674 MONDO:MONDO:0010139,MedGen:C0271789,OMIM:275100,Orphanet:90674 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM1 Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM8 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 TREX1-related disorder trex1_related_disorder MedGen:CN239414 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRDN condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Limb-mammary syndrome mondo_mondo_0011334_medgen_c1863753_omim_603543_orphanet_69085 MONDO:MONDO:0011334,MedGen:C1863753,OMIM:603543,Orphanet:69085 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53RK Galloway-Mowat syndrome 4 mondo_mondo_0033008_medgen_c4540270_omim_617730 MONDO:MONDO:0033008,MedGen:C4540270,OMIM:617730 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Prostate cancer, hereditary, 1 mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Dilated cardiomyopathy 2A mondo_mondo_0012746_medgen_c2678474_omim_611880_orphanet_154 MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMTC3 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM70 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM63A Leukodystrophy, hypomyelinating, 19, transient infantile mondo_mondo_0032871_medgen_c5231463_omim_618688 MONDO:MONDO:0032871,MedGen:C5231463,OMIM:618688 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126B Mitochondrial complex I deficiency, nuclear type 29 mondo_mondo_0032633_medgen_c4748830_omim_618250 MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TINF2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TINF2 Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2B condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Interstitial lung disease 2 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECRL Catecholaminergic polymorphic ventricular tachycardia 3 mondo_mondo_0013529_medgen_c3151463_omim_614021_orphanet_3286 MONDO:MONDO:0013529,MedGen:C3151463,OMIM:614021,Orphanet:3286 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDRD7 Cataract 36 mondo_mondo_0013484_medgen_c3151304_omim_613887 MONDO:MONDO:0013484,MedGen:C3151304,OMIM:613887 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXAS1 Ghosal hematodiaphyseal dysplasia mondo_mondo_0009274_medgen_c1856465_omim_231095_orphanet_1802 MONDO:MONDO:0009274,MedGen:C1856465,OMIM:231095,Orphanet:1802 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX22 Cleft palate with ankyloglossia medgen_c1844831 MedGen:C1844831 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D8B Nephrotic syndrome, type 20 mondo_mondo_0026726_medgen_c5193011_omim_301028 MONDO:MONDO:0026726,MedGen:C5193011,OMIM:301028 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D2B Neurodevelopmental disorder with seizures and gingival overgrowth mondo_mondo_0859148_medgen_c5543395_omim_619323 MONDO:MONDO:0859148,MedGen:C5543395,OMIM:619323 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Familial infantile myoclonic epilepsy mondo_mondo_0011506_medgen_c0917800_omim_605021_orphanet_352582 MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 SYNGAP1-related disorder syngap1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUOX Sulfocysteinuria human_phenotype_ontology_hp_0032350_medgen_c2931746 Human_Phenotype_Ontology:HP:0032350,MedGen:C2931746 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX3 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Germ cell tumor of testis mondo_mondo_0010108_medgen_c1336708_omim_273300_orphanet_363504 MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG2 Holoprosencephaly 13, X-linked mondo_mondo_0026763_medgen_c5393308_omim_301043 MONDO:MONDO:0026763,MedGen:C5393308,OMIM:301043 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG1 STAG1-related disorder stag1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRRM2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN2 Autosomal recessive spinocerebellar ataxia 14 mondo_mondo_0014159_medgen_c4706415_omim_615386_orphanet_352403 MONDO:MONDO:0014159,MedGen:C4706415,OMIM:615386,Orphanet:352403 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 SPTAN1-related disorder sptan1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINT2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPECC1L Teebi hypertelorism syndrome mondo_mondo_0030639_medgen_c0796179_omim_ps145420_orphanet_1519 MONDO:MONDO:0030639,MedGen:C0796179,OMIM:PS145420,Orphanet:1519 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL medgen_c1842462 MedGen:C1842462 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP29 CEDNIK syndrome mondo_mondo_0012290_medgen_c1836033_omim_609528_orphanet_66631 MONDO:MONDO:0012290,MedGen:C1836033,OMIM:609528,Orphanet:66631 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCD2 Specific granule deficiency 2 mondo_mondo_0044208_medgen_c4479548_omim_617475 MONDO:MONDO:0044208,MedGen:C4479548,OMIM:617475 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 SLC3A1-related disorder slc3a1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A10 Hypermanganesemia with dystonia, polycythemia, and cirrhosis mondo_mondo_0013208_medgen_c2750442_omim_613280_orphanet_309854 MONDO:MONDO:0013208,MedGen:C2750442,OMIM:613280,Orphanet:309854 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Deafness medgen_c0011053 MedGen:C0011053 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A3 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A12 Developmental and epileptic encephalopathy, 39 mondo_mondo_0013056_medgen_c2751855_omim_612949_orphanet_353217 MONDO:MONDO:0013056,MedGen:C2751855,OMIM:612949,Orphanet:353217 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Knobloch syndrome 1 mondo_mondo_0800167_medgen_c4551775_omim_267750 MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 Delpire-McNeill syndrome mondo_mondo_0033667_medgen_c5436771_omim_619083_orphanet_633024 MONDO:MONDO:0033667,MedGen:C5436771,OMIM:619083,Orphanet:633024 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLA condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC2 Trichohepatoenteric syndrome mondo_mondo_0009105_medgen_c1857276_omim_ps222470_orphanet_84064 MONDO:MONDO:0009105,MedGen:C1857276,OMIM:PS222470,Orphanet:84064 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIL1 condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIAH1 condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3PXD2B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3BP2 Fibrous dysplasia of jaw mondo_mondo_0007315_medgen_c0008029_omim_118400_orphanet_184 MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCG Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPB Surfactant metabolism dysfunction, pulmonary, 1 mondo_mondo_0009929_medgen_c1968602_omim_265120_orphanet_217563 MONDO:MONDO:0009929,MedGen:C1968602,OMIM:265120,Orphanet:217563 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 SETD5-related disorder setd5_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINH1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPING1 Angioedema human_phenotype_ontology_hp_0100665_human_phenotype_ontology_hp_0100666_mondo_mondo_0010481_mesh_d000799_medgen_c0002994 Human_Phenotype_Ontology:HP:0100665,Human_Phenotype_Ontology:HP:0100666,MONDO:MONDO:0010481,MeSH:D000799,MedGen:C0002994 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 SERPINA1-related disorder serpina1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA SDHA-related disorder sdha_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCYL1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Myopia 6 mondo_mondo_0012154_medgen_c1837148_omim_608908 MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO1 Mitochondrial complex IV deficiency, nuclear type 4 mondo_mondo_0033636_medgen_c5436683_omim_619048 MONDO:MONDO:0033636,MedGen:C5436683,OMIM:619048 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Benign familial infantile epilepsy mondo_mondo_0017615_medgen_c5575231_omim_ps601764_orphanet_306 MONDO:MONDO:0017615,MedGen:C5575231,OMIM:PS601764,Orphanet:306 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9L condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Arrhythmogenic right ventricular dysplasia 2 medgen_c1832931 MedGen:C1832931 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN4IP1 Optic atrophy 10 with or without ataxia, intellectual disability, and seizures mondo_mondo_0020737_medgen_c4225227_omim_616732 MONDO:MONDO:0020737,MedGen:C4225227,OMIM:616732 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 RTEL1-related disorder rtel1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Interstitial lung disease 2 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH1 Primary ciliary dyskinesia 24 mondo_mondo_0014202_medgen_c3809634_omim_615481_orphanet_244 MONDO:MONDO:0014202,MedGen:C3809634,OMIM:615481,Orphanet:244 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM2B Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction mondo_mondo_0010000_medgen_c1849333_omim_268315 MONDO:MONDO:0010000,MedGen:C1849333,OMIM:268315 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAS2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPSA Familial isolated congenital asplenia mondo_mondo_0010066_medgen_c0685889_omim_271400_orphanet_101351 MONDO:MONDO:0010066,MedGen:C0685889,OMIM:271400,Orphanet:101351 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL35A Diamond-Blackfan anemia 5 mondo_mondo_0012925_medgen_c2675859_omim_612528_orphanet_124 MONDO:MONDO:0012925,MedGen:C2675859,OMIM:612528,Orphanet:124 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Neurooculorenal syndrome mondo_mondo_0957210_medgen_c5830377_omim_620305 MONDO:MONDO:0957210,MedGen:C5830377,OMIM:620305 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF216 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF17 Microcephaly 6, primary, autosomal recessive mondo_mondo_0012029_medgen_c1842109_omim_608393_orphanet_2512 MONDO:MONDO:0012029,MedGen:C1842109,OMIM:608393,Orphanet:2512 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASET2 Cystic leukoencephalopathy without megalencephaly mondo_mondo_0013058_medgen_c2751843_omim_612951_orphanet_85136 MONDO:MONDO:0013058,MedGen:C2751843,OMIM:612951,Orphanet:85136 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND1 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Congenital stationary night blindness autosomal dominant 1 mondo_mondo_0012498_medgen_c1864869_omim_610445_orphanet_215 MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445,Orphanet:215 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELA Mucocutaneous ulceration, chronic mondo_mondo_0032659_medgen_c4748997_omim_618287 MONDO:MONDO:0032659,MedGen:C4748997,OMIM:618287 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP6 Retinitis pigmentosa 77 mondo_mondo_0015013_medgen_c4310626_omim_617304 MONDO:MONDO:0015013,MedGen:C4310626,OMIM:617304 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBL2 Brunet-Wagner neurodevelopmental syndrome mondo_mondo_0859217_medgen_c5562056_omim_619690 MONDO:MONDO:0859217,MedGen:C5562056,OMIM:619690 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASGRP2 Abnormal platelet aggregation human_phenotype_ontology_hp_0030402_medgen_c0541767 Human_Phenotype_Ontology:HP:0030402,MedGen:C0541767 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALA Hiatt-Neu-Cooper neurodevelopmental syndrome mondo_mondo_0859142_medgen_c5543338_omim_619311 MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Recombinase activating gene 1 deficiency mondo_mondo_0000572_medgen_cn375631 MONDO:MONDO:0000572,MedGen:CN375631 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 RAG1-related disorder rag1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C RAD51C-related cancer predisposition mondo_mondo_0700273_medgen_cn377762 MONDO:MONDO:0700273,MedGen:CN377762 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC3 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies mondo_mondo_0032820_medgen_c5231416_omim_618577_orphanet_659609 MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577,Orphanet:659609 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYROXD1 Myofibrillar myopathy 8 mondo_mondo_0014993_medgen_c4310645_omim_617258 MONDO:MONDO:0014993,MedGen:C4310645,OMIM:617258 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH1R Chondrodysplasia Blomstrand type mondo_mondo_0008970_medgen_c1859148_omim_215045_orphanet_50945 MONDO:MONDO:0008970,MedGen:C1859148,OMIM:215045,Orphanet:50945 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTBP1 PTBP1-related neurodevelopmental disorder with skeletal dysplasia ptbp1_related_neurodevelopmental_disorder_with_skeletal_dysplasia . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 Arts syndrome mondo_mondo_0010533_medgen_c0796028_omim_301835_orphanet_1187 MONDO:MONDO:0010533,MedGen:C0796028,OMIM:301835,Orphanet:1187 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Vitelliform macular dystrophy 2 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKD1 Congenital heart defects and ectodermal dysplasia mondo_mondo_0044303_medgen_c4479250_omim_617364 MONDO:MONDO:0044303,MedGen:C4479250,OMIM:617364 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCSH Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Acrodysostosis 1 with or without hormone resistance mondo_mondo_0007044_medgen_c3276228_omim_101800_orphanet_280651 MONDO:MONDO:0007044,MedGen:C3276228,OMIM:101800,Orphanet:280651 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB Noonan syndrome-like disorder with loose anagen hair 2 mondo_mondo_0054588_medgen_c4479577_omim_617506 MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Variegate porphyria, childhood-onset mondo_mondo_0957577_medgen_c5882681_omim_620483 MONDO:MONDO:0957577,MedGen:C5882681,OMIM:620483 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1D Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPIL1 Congenital pontocerebellar hypoplasia mesh_c580383_medgen_c0266468 MeSH:C580383,MedGen:C0266468 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPIB Osteogenesis imperfecta type 9 mondo_mondo_0009805_medgen_c1850169_omim_259440 MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIBP1 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIBP1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIBP1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIBP1 Cerebral calcification human_phenotype_ontology_hp_0002502_human_phenotype_ontology_hp_0002514_human_phenotype_ontology_hp_0005806_human_phenotype_ontology_hp_0006848_medgen_c0270685 Human_Phenotype_Ontology:HP:0002502,Human_Phenotype_Ontology:HP:0002514,Human_Phenotype_Ontology:HP:0005806,Human_Phenotype_Ontology:HP:0006848,MedGen:C0270685 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIA3 PPFIA3-related disorder ppfia3_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3H condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis mondo_mondo_0011835_medgen_c1843851_omim_607459_orphanet_70595 MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNP condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMFBP1 Spermatogenic failure 31 mondo_mondo_0020852_medgen_c4748234_omim_618112 MONDO:MONDO:0020852,MedGen:C4748234,OMIM:618112 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS3 Bone mineral density quantitative trait locus 18 medgen_c3806712_omim_300910_orphanet_391330 MedGen:C3806712,OMIM:300910,Orphanet:391330 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCE1 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKLR PKLR-related disorder pklr_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Vascular Malformations and Overgrowth vascular_malformations_and_overgrowth . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA CLAPO syndrome mondo_mondo_0013125_medgen_c2751313_omim_613089_orphanet_168984 MONDO:MONDO:0013125,MedGen:C2751313,OMIM:613089,Orphanet:168984 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ Developmental and epileptic encephalopathy, 77 mondo_mondo_0032808_medgen_c5231405_omim_618548 MONDO:MONDO:0032808,MedGen:C5231405,OMIM:618548 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL CHIME syndrome mondo_mondo_0010221_medgen_c1848392_omim_280000_orphanet_3474 MONDO:MONDO:0010221,MedGen:C1848392,OMIM:280000,Orphanet:3474 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGK Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures mondo_mondo_0030037_medgen_c5394372_omim_618879 MONDO:MONDO:0030037,MedGen:C5394372,OMIM:618879 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX PHEX-related disorder phex_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFKM condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX11B Peroxisome biogenesis disorder 14B mondo_mondo_0013967_medgen_c3554055_omim_614920_orphanet_44 MONDO:MONDO:0013967,MedGen:C3554055,OMIM:614920,Orphanet:44 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PET100 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFB Basal ganglia calcification, idiopathic, 5 mondo_mondo_0014204_medgen_c3809645_omim_615483_orphanet_1980 MONDO:MONDO:0014204,MedGen:C3809645,OMIM:615483,Orphanet:1980 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCYT1A Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome mondo_mondo_0012160_medgen_c1837073_omim_608940_orphanet_85167 MONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940,Orphanet:85167 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAPSS2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H1 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTULIN Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive mondo_mondo_0014912_medgen_c4310614_omim_617099_orphanet_500062 MONDO:MONDO:0014912,MedGen:C4310614,OMIM:617099,Orphanet:500062 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF OTOF-related disorder otof_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRCAM Neurodevelopmental disorder with neuromuscular and skeletal abnormalities mondo_mondo_0859236_medgen_c5676965_omim_619833 MONDO:MONDO:0859236,MedGen:C5676965,OMIM:619833 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRCAM NRCAM-related disorder nrcam_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Premature ovarian failure 7 mondo_mondo_0013065_medgen_c2751825_omim_612964 MONDO:MONDO:0013065,MedGen:C2751825,OMIM:612964 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 NR5A1-related disorder nr5a1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 NR2E3-related disorder nr2e3_related_disorder MedGen:CN239387 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR1H4 Cholestasis, progressive familial intrahepatic, 5 mondo_mondo_0014884_medgen_c4310747_omim_617049_orphanet_480476 MONDO:MONDO:0014884,MedGen:C4310747,OMIM:617049,Orphanet:480476 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 NPHS2-related disorder nphs2_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Idiopathic nephrotic syndrome mondo_mondo_0018170_medgen_c3496337_orphanet_357502 MONDO:MONDO:0018170,MedGen:C3496337,Orphanet:357502 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 NPHS1-related disorder nphs1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG Symphalangism-brachydactyly syndrome mondo_mondo_0008519_medgen_c0342282_omim_186500_orphanet_3237 MONDO:MONDO:0008519,MedGen:C0342282,OMIM:186500,Orphanet:3237 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOD2 Regional enteritis mesh_d003424_medgen_c0678202 MeSH:D003424,MedGen:C0678202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHS Cataract 40 mondo_mondo_0010544_medgen_c4049004_omim_302200_orphanet_91492 MONDO:MONDO:0010544,MedGen:C4049004,OMIM:302200,Orphanet:91492 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NECTIN4 Ectodermal dysplasia-syndactyly syndrome 1 mondo_mondo_0024565_medgen_c3150807_omim_613573_orphanet_247820 MONDO:MONDO:0024565,MedGen:C3150807,OMIM:613573,Orphanet:247820 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 Myopia 6 mondo_mondo_0012154_medgen_c1837148_omim_608908 MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGA Alpha-N-acetylgalactosaminidase deficiency type 2 mondo_mondo_0012222_medgen_c1836522_omim_609242_orphanet_3137_orphanet_79280 MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242,Orphanet:3137,Orphanet:79280 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Myofibrillar myopathy 3 mondo_mondo_0012215_medgen_c3714934_omim_609200_orphanet_266_orphanet_268129 MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200,Orphanet:266,Orphanet:268129 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOC condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 Spondylocarpotarsal synostosis syndrome mondo_mondo_0010094_medgen_c1848934_omim_272460_orphanet_3275 MONDO:MONDO:0010094,MedGen:C1848934,OMIM:272460,Orphanet:3275 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH14 Autosomal dominant nonsyndromic hearing loss 4A mondo_mondo_0010915_medgen_c1833503_omim_600652_orphanet_90635 MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Neural tube defects, folate-sensitive mondo_mondo_0011120_medgen_c1866558_omim_601634_orphanet_823 MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634,Orphanet:823 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX1 Tooth agenesis, selective, 1 mondo_mondo_0007129_medgen_c3489529_omim_106600_orphanet_99798 MONDO:MONDO:0007129,MedGen:C3489529,OMIM:106600,Orphanet:99798 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Roussy-Lévy syndrome mondo_mondo_0008392_medgen_c0205713_omim_180800_orphanet_3115 MONDO:MONDO:0008392,MedGen:C0205713,OMIM:180800,Orphanet:3115 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ MPZ-related disorder mpz_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 Mitochondrial DNA depletion syndrome mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPDU1 MPDU1-congenital disorder of glycosylation mondo_mondo_0012211_medgen_c1836669_omim_609180_orphanet_79323 MONDO:MONDO:0012211,MedGen:C1836669,OMIM:609180,Orphanet:79323 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME Spinocerebellar ataxia 43 mondo_mondo_0014867_medgen_c4310763_omim_617018_orphanet_497764 MONDO:MONDO:0014867,MedGen:C4310763,OMIM:617018,Orphanet:497764 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMADHC condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Colon cancer human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGAT2 MGAT2-congenital disorder of glycosylation mondo_mondo_0008908_medgen_c2931008_omim_212066_orphanet_79329 MONDO:MONDO:0008908,MedGen:C2931008,OMIM:212066,Orphanet:79329 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL5 Intellectual developmental disorder, autosomal recessive 72 mondo_mondo_0032860_medgen_c5231452_omim_618665 MONDO:MONDO:0032860,MedGen:C5231452,OMIM:618665 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Angelman syndrome mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM9 46,XX ovarian dysgenesis-short stature syndrome mondo_mondo_0014520_medgen_c4015409_omim_616185_orphanet_444048 MONDO:MONDO:0014520,MedGen:C4015409,OMIM:616185,Orphanet:444048 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM8 Premature ovarian failure 10 mondo_mondo_0044776_medgen_c4225402_omim_612885 MONDO:MONDO:0044776,MedGen:C4225402,OMIM:612885 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Factor 5 and Factor VIII, combined deficiency of, 2 mondo_mondo_0013331_medgen_c3150889_omim_613625_orphanet_35909 MONDO:MONDO:0013331,MedGen:C3150889,OMIM:613625,Orphanet:35909 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCEE Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency mondo_mondo_0009615_medgen_c1855100_omim_251120_orphanet_308425 MONDO:MONDO:0009615,MedGen:C1855100,OMIM:251120,Orphanet:308425 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC2R condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC2R Glucocorticoid Deficiency medgen_c1955741 MedGen:C1955741 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS1 Spondyloepiphyseal dysplasia, kondo-fu type mondo_mondo_0032721_medgen_c5193071_omim_618392 MONDO:MONDO:0032721,MedGen:C5193071,OMIM:618392 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K7 Cardiospondylocarpofacial syndrome mondo_mondo_0008005_medgen_c2931461_omim_157800_orphanet_3238 MONDO:MONDO:0008005,MedGen:C2931461,OMIM:157800,Orphanet:3238 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2C1 Congenital disorder of deglycosylation 2 mondo_mondo_0030770_medgen_c5676931_omim_619775 MONDO:MONDO:0030770,MedGen:C5676931,OMIM:619775 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MADD condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYRM7 Mitochondrial complex III deficiency nuclear type 8 mondo_mondo_0014364_medgen_c4014440_omim_615838 MONDO:MONDO:0014364,MedGen:C4014440,OMIM:615838 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 LOXHD1-related disorder loxhd1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LONP2 condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPH Hypotrichosis 7 mondo_mondo_0011452_medgen_c1836672_omim_604379_orphanet_55654 MONDO:MONDO:0011452,MedGen:C1836672,OMIM:604379,Orphanet:55654 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIAS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI3 Peripheral nerve hyperexcitability syndrome peripheral_nerve_hyperexcitability_syndrome . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR Pelger-Huët anomaly mondo_mondo_0008214_medgen_c0030779_omim_169400 MONDO:MONDO:0008214,MedGen:C0030779,OMIM:169400 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L2HGDH condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KYNU Congenital NAD deficiency disorder congenital_nad_deficiency_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Epidermolysis bullosa simplex 1C, localized mondo_mondo_0007551_medgen_c0080333_omim_131800_orphanet_79400 MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT12 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Epidermolytic ichthyosis human_phenotype_ontology_hp_0007475_mondo_mondo_0007239_medgen_c0079153_omim_ps113800_orphanet_312 Human_Phenotype_Ontology:HP:0007475,MONDO:MONDO:0007239,MedGen:C0079153,OMIM:PS113800,Orphanet:312 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Autoimmune lymphoproliferative syndrome type 4 mondo_mondo_0013767_medgen_c2674723_omim_614470_orphanet_268114 MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLKB1 Inherited prekallikrein deficiency mondo_mondo_0012901_medgen_cn305372_omim_612423_orphanet_749 MONDO:MONDO:0012901,MedGen:CN305372,OMIM:612423,Orphanet:749 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Retinitis pigmentosa 42 mondo_mondo_0013052_medgen_c2751986_omim_612943_orphanet_791 MONDO:MONDO:0013052,MedGen:C2751986,OMIM:612943,Orphanet:791 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 KIF7-related disorder kif7_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF26A Cortical dysplasia, complex, with other brain malformations 11 mondo_mondo_0859332_medgen_c5774270_omim_620156 MONDO:MONDO:0859332,MedGen:C5774270,OMIM:620156 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF12 Cholestasis, progressive familial intrahepatic, 8 mondo_mondo_0030505_medgen_c5562045_omim_619662 MONDO:MONDO:0030505,MedGen:C5562045,OMIM:619662 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM4B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ13 Leber congenital amaurosis 16 mondo_mondo_0013613_medgen_c3280062_omim_614186_orphanet_65 MONDO:MONDO:0013613,MedGen:C3280062,OMIM:614186,Orphanet:65 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ1 Bartter syndrome mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 Temple-Baraitser syndrome mondo_mondo_0012735_medgen_c2678486_omim_611816_orphanet_420561 MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816,Orphanet:420561 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNB1 Lissencephaly 6 with microcephaly mondo_mondo_0014534_medgen_c4015525_omim_616212_orphanet_1083 MONDO:MONDO:0014534,MedGen:C4015525,OMIM:616212,Orphanet:1083 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Leukoencephalopathy, progressive, infantile-onset, with or without deafness mondo_mondo_0030893_medgen_c5542996_omim_619147 MONDO:MONDO:0030893,MedGen:C5542996,OMIM:619147 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Glanzmann thrombasthenia 1 mondo_mondo_0031332_medgen_cn300358_omim_273800 MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTS1 condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Permanent neonatal diabetes mellitus mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Hyperproinsulinemia mondo_mondo_0014535_medgen_c0342283_omim_616214 MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RN Sterile multifocal osteomyelitis with periostitis and pustulosis mondo_mondo_0013021_medgen_c2748507_omim_612852_orphanet_210115 MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Anemia, nonspherocytic hemolytic, due to G6PD deficiency mondo_mondo_0010480_medgen_c2720289_omim_300908_orphanet_466026 MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGSF1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT81 Short-rib thoracic dysplasia 19 with or without polydactyly mondo_mondo_0033485_medgen_c4693524_omim_617895 MONDO:MONDO:0033485,MedGen:C4693524,OMIM:617895 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA IDUA-related disorder idua_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDS Mucopolysaccharidosis, MPS-III-A mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA2 3-methylglutaconic aciduria type 8 mondo_mondo_0044723_medgen_c4310650_omim_617248_orphanet_505208 MONDO:MONDO:0044723,MedGen:C4310650,OMIM:617248,Orphanet:505208 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPG2 Schwartz-Jampel syndrome mondo_mondo_0009717_medgen_c0036391_orphanet_800 MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HR Atrichia with papular lesions mondo_mondo_0008847_medgen_c1859592_omim_209500_orphanet_86819 MONDO:MONDO:0008847,MedGen:C1859592,OMIM:209500,Orphanet:86819 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 Intellectual disability, X-linked, syndromic, Bain type mondo_mondo_0010512_medgen_c4310814_omim_300986_orphanet_662198 MONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986,Orphanet:662198 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGA2 Silver-Russell syndrome 5 mondo_mondo_0020795_medgen_c5394456_omim_618908 MONDO:MONDO:0020795,MedGen:C5394456,OMIM:618908 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIVEP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA HEXA-related disorder hexa_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A mondo_mondo_0013490_medgen_c3151355_omim_613925_orphanet_2478 MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925,Orphanet:2478 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Hemoglobin H disease, nondeletional medgen_c3279561 MedGen:C3279561 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAAO Vertebral, cardiac, renal, and limb defects syndrome 1 mondo_mondo_0060554_medgen_c4540004_omim_617660 MONDO:MONDO:0060554,MedGen:C4540004,OMIM:617660 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYG1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUSB condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY1A1 Moyamoya disease with early-onset achalasia mondo_mondo_0014331_medgen_c3810403_omim_615750_orphanet_401945 MONDO:MONDO:0014331,MedGen:C3810403,OMIM:615750,Orphanet:401945 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF3C3 Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures mondo_mondo_0978301_medgen_c6012725_omim_621201 MONDO:MONDO:0978301,MedGen:C6012725,OMIM:621201 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN GRN-related disorder grn_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Neurodevelopmental Disability neurodevelopmental_disability . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAL Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAL Dystonia 25 mondo_mondo_0014033_medgen_c4304670_omim_615073_orphanet_329466 MONDO:MONDO:0014033,MedGen:C4304670,OMIM:615073,Orphanet:329466 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA11 condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 GLI2-related disorder gli2_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC GLDC-related disorder gldc_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA8 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF2 Leber congenital amaurosis 16 mondo_mondo_0013613_medgen_c3280062_omim_614186_orphanet_65 MONDO:MONDO:0013613,MedGen:C3280062,OMIM:614186,Orphanet:65 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Grebe syndrome mondo_mondo_0008703_medgen_c0265260_omim_200700_orphanet_2098 MONDO:MONDO:0008703,MedGen:C0265260,OMIM:200700,Orphanet:2098 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCM2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH GCDH-related disorder gcdh_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GC Chronic obstructive pulmonary disease human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 Myelodysplastic syndrome mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR2 Developmental and epileptic encephalopathy, 59 mondo_mondo_0033368_medgen_c4693550_omim_617904 MONDO:MONDO:0033368,MedGen:C4693550,OMIM:617904 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUCA1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTL condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Fraser syndrome 1 mondo_mondo_0054737_medgen_c4551480_omim_219000_orphanet_2052 MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRAS1 FRAS1-related disorder fras1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FN1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FN1 Spondylometaphyseal dysplasia human_phenotype_ontology_hp_0002657_mondo_mondo_0016763_medgen_c4759767_omim_ps184255_orphanet_254 Human_Phenotype_Ontology:HP:0002657,MONDO:MONDO:0016763,MedGen:C4759767,OMIM:PS184255,Orphanet:254 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT3 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Dilated Cardiomyopathy, Dominant dilated_cardiomyopathy_dominant . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG FLG-related disorder flg_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Pneumothorax - familial pneumothorax_familial . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLAD1 Multiple acyl-CoA dehydrogenase deficiency mondo_mondo_0009282_medgen_c0268596_omim_231680_orphanet_26791 MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 FIG4-related disorder fig4_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Bilateral parasagittal parieto-occipital polymicrogyria mondo_mondo_0012986_medgen_c4013648_omim_612691_orphanet_208441 MONDO:MONDO:0012986,MedGen:C4013648,OMIM:612691,Orphanet:208441 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG Congenital afibrinogenemia mondo_mondo_0008737_medgen_c2584774_omim_202400_orphanet_335_orphanet_98880 MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Trigonocephaly 1 mondo_mondo_0008603_medgen_c0432122_omim_190440_orphanet_3366 MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440,Orphanet:3366 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Jackson-Weiss syndrome mondo_mondo_0007400_medgen_c0795998_omim_123150_orphanet_1540 MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphanet:1540 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF3 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF14 Spinocerebellar ataxia 27A mondo_mondo_0008654_medgen_cn031884_omim_193003 MONDO:MONDO:0008654,MedGen:CN031884,OMIM:193003 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD1 FGD1-related disorder fgd1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Hypofibrinogenemia human_phenotype_ontology_hp_0011900_medgen_c0553681 Human_Phenotype_Ontology:HP:0011900,MedGen:C0553681 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAR1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20C condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM149B1 Joubert syndrome 36 mondo_mondo_0032902_medgen_c5231493_omim_618763 MONDO:MONDO:0032902,MedGen:C5231493,OMIM:618763 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 Factor XII deficiency disease human_phenotype_ontology_hp_0004841_human_phenotype_ontology_hp_0005514_human_phenotype_ontology_hp_0005551_human_phenotype_ontology_hp_0008286_mondo_mondo_0009315_medgen_c0015526_omim_234000_orphanet_330 Human_Phenotype_Ontology:HP:0004841,Human_Phenotype_Ontology:HP:0005514,Human_Phenotype_Ontology:HP:0005551,Human_Phenotype_Ontology:HP:0008286,MONDO:MONDO:0009315,MedGen:C0015526,OMIM:234000,Orphanet:330 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 F11-related disorder f11_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT2 EXT2-related disorder ext2_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESRRB condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN2 Hereditary spastic paraplegia 18 mondo_mondo_0012639_medgen_c2749936_orphanet_209951 MONDO:MONDO:0012639,MedGen:C2749936,Orphanet:209951 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB3 Visceral neuropathy, familial, 1, autosomal recessive mondo_mondo_8000011_medgen_c1855733_omim_243180_orphanet_99811 MONDO:MONDO:8000011,MedGen:C1855733,OMIM:243180,Orphanet:99811 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPS8 Autosomal recessive nonsyndromic hearing loss 102 mondo_mondo_0014428_medgen_c3892050_omim_615974_orphanet_90636 MONDO:MONDO:0014428,MedGen:C3892050,OMIM:615974,Orphanet:90636 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Menke-Hennekam syndrome 2 mondo_mondo_0020769_medgen_c5193035_omim_618333 MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTPD5 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 ENPP1-related disorder enpp1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENAM Amelogenesis imperfecta - hypoplastic autosomal dominant - local mondo_mondo_0007092_medgen_c0399368_omim_104500_orphanet_88661 MONDO:MONDO:0007092,MedGen:C0399368,OMIM:104500,Orphanet:88661 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF5A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF4A2 Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures mondo_mondo_0957541_medgen_c5830654_omim_620455 MONDO:MONDO:0957541,MedGen:C5830654,OMIM:620455 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF4A2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B4 Leukoencephalopathy with vanishing white matter 4 mondo_mondo_0957872_medgen_c5830406_omim_620314 MONDO:MONDO:0957872,MedGen:C5830406,OMIM:620314 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP2 Cutis laxa, autosomal recessive, type 1A mondo_mondo_0009052_medgen_c5848058_omim_219100_orphanet_90349 MONDO:MONDO:0009052,MedGen:C5848058,OMIM:219100,Orphanet:90349 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DZIP1L condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOX2 Familial thyroid dyshormonogenesis mondo_mondo_0010132_medgen_c4273748_omim_ps274400_orphanet_95716 MONDO:MONDO:0010132,MedGen:C4273748,OMIM:PS274400,Orphanet:95716 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Dilated cardiomyopathy 1BB mondo_mondo_0013030_medgen_c2752072_omim_612877_orphanet_154 MONDO:MONDO:0013030,MedGen:C2752072,OMIM:612877,Orphanet:154 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC1 Primary ciliary dyskinesia 21 mondo_mondo_0014123_medgen_c3809087_omim_615294_orphanet_244 MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRAM2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRAM2 Cone-rod dystrophy 21 human_phenotype_ontology_hp_0030635_mondo_mondo_0014669_medgen_c4049066_omim_616502_orphanet_1872 Human_Phenotype_Ontology:HP:0030635,MONDO:MONDO:0014669,MedGen:C4049066,OMIM:616502,Orphanet:1872 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM2 Congenital muscular dystrophy with intellectual disability and severe epilepsy mondo_mondo_0014023_medgen_c5190603_omim_615042_orphanet_329178 MONDO:MONDO:0014023,MedGen:C5190603,OMIM:615042,Orphanet:329178 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH1 Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 mondo_mondo_0800438_medgen_cn323360_omim_616901 MONDO:MONDO:0800438,MedGen:CN323360,OMIM:616901 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT1 Hereditary sensory neuropathy-deafness-dementia syndrome mondo_mondo_0013584_medgen_c3279885_omim_614116_orphanet_456318 MONDO:MONDO:0013584,MedGen:C3279885,OMIM:614116,Orphanet:456318 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC3 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome mondo_mondo_0014523_medgen_c4015436_omim_616192_orphanet_445062 MONDO:MONDO:0014523,MedGen:C4015436,OMIM:616192,Orphanet:445062 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB13 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI1 condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Progressive muscular dystrophy mondo_mondo_0016106_medgen_c4551827_orphanet_206644 MONDO:MONDO:0016106,MedGen:C4551827,Orphanet:206644 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIP2C condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHTKD1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHTKD1 Charcot-Marie-Tooth disease axonal type 2Q mondo_mondo_0014012_medgen_c3554366_omim_615025_orphanet_329258 MONDO:MONDO:0014012,MedGen:C3554366,OMIM:615025,Orphanet:329258 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHODH Miller syndrome mondo_mondo_0009903_medgen_c0265257_omim_263750_orphanet_246 MONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750,Orphanet:246 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHDDS condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEGS1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDB2 Xeroderma pigmentosum, group E mondo_mondo_0010213_medgen_c1848411_omim_278740_orphanet_910 MONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740,Orphanet:910 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Abnormal cortical gyration human_phenotype_ontology_hp_0002536_human_phenotype_ontology_hp_0006900_medgen_c1856019 Human_Phenotype_Ontology:HP:0002536,Human_Phenotype_Ontology:HP:0006900,MedGen:C1856019 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBH Orthostatic hypotension 1 mondo_mondo_0009123_medgen_c4746777_omim_223360_orphanet_230 MONDO:MONDO:0009123,MedGen:C4746777,OMIM:223360,Orphanet:230 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 mondo_mondo_0014683_medgen_c4225291_omim_616538_orphanet_370997_orphanet_899 MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538,Orphanet:370997,Orphanet:899 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27B1 Vitamin D-dependent rickets, type 1 mondo_mondo_0009924_medgen_c0268689_orphanet_289157 MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 CYP1B1-related disorder cyp1b1_related_disorder MedGen:CN239260 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial mondo_mondo_0800380_medgen_c4017190 MONDO:MONDO:0800380,MedGen:C4017190 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS CTNS-related disorder ctns_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNND1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Exudative vitreoretinopathy 7 mondo_mondo_0033123_medgen_c4539767_omim_617572 MONDO:MONDO:0033123,MedGen:C4539767,OMIM:617572 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Progressive myoclonic epilepsy mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGC Cataract 2, multiple types mondo_mondo_0100436_medgen_c4721890_omim_604307_orphanet_91492 MONDO:MONDO:0100436,MedGen:C4721890,OMIM:604307,Orphanet:91492 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRBN condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 COL6A1-related disorder col6a1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Postmenopausal osteoporosis mondo_mondo_0008159_medgen_c0029458 MONDO:MONDO:0008159,MedGen:C0029458 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG6 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome mondo_mondo_0014131_medgen_c3809160_omim_615328_orphanet_363523 MONDO:MONDO:0014131,MedGen:C3809160,OMIM:615328,Orphanet:363523 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COASY condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COA8 Mitochondrial complex IV deficiency, nuclear type 17 mondo_mondo_0033652_medgen_c5436718_omim_619061 MONDO:MONDO:0033652,MedGen:C5436718,OMIM:619061 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN14 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN4 CLCN4-related disorder clcn4_related_disorder MedGen:CN232948 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Congenital myasthenic syndrome 1A mondo_mondo_0011088_medgen_c2931107_omim_601462 MONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Predisposition to cancer predisposition_to_cancer . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD1 Pilarowski-Bjornsson syndrome mondo_mondo_0060568_medgen_c4540131_omim_617682_orphanet_529965 MONDO:MONDO:0060568,MedGen:C4540131,OMIM:617682,Orphanet:529965 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP298 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Posterior Predominant Lissencephaly posterior_predominant_lissencephaly . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP164 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK10 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 Axon pathfinding, cardiac, ocular and genital defects axon_pathfinding_cardiac_ocular_and_genital_defects . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome mondo_mondo_0030065_medgen_c5394523_omim_618929 MONDO:MONDO:0030065,MedGen:C5394523,OMIM:618929 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC45 Meier-Gorlin syndrome 7 mondo_mondo_0014894_medgen_c4310738_omim_617063_orphanet_2554 MONDO:MONDO:0014894,MedGen:C4310738,OMIM:617063,Orphanet:2554 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Postnatal growth retardation human_phenotype_ontology_hp_0008844_human_phenotype_ontology_hp_0008865_human_phenotype_ontology_hp_0008868_human_phenotype_ontology_hp_0008897_human_phenotype_ontology_hp_0008901_human_phenotype_ontology_hp_0008918_medgen_c1859778 Human_Phenotype_Ontology:HP:0008844,Human_Phenotype_Ontology:HP:0008865,Human_Phenotype_Ontology:HP:0008868,Human_Phenotype_Ontology:HP:0008897,Human_Phenotype_Ontology:HP:0008901,Human_Phenotype_Ontology:HP:0008918,MedGen:C1859778 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Abnormality of the immune system human_phenotype_ontology_hp_0002715_human_phenotype_ontology_hp_0003257_human_phenotype_ontology_hp_0003346_human_phenotype_ontology_hp_0010986_medgen_c4021753 Human_Phenotype_Ontology:HP:0002715,Human_Phenotype_Ontology:HP:0003257,Human_Phenotype_Ontology:HP:0003346,Human_Phenotype_Ontology:HP:0010986,MedGen:C4021753 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD59 Primary CD59 deficiency mondo_mondo_0012858_medgen_c2676767_omim_612300_orphanet_169464 MONDO:MONDO:0012858,MedGen:C2676767,OMIM:612300,Orphanet:169464 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC8 3M syndrome 3 mondo_mondo_0013627_medgen_c3280146_omim_614205_orphanet_2616 MONDO:MONDO:0013627,MedGen:C3280146,OMIM:614205,Orphanet:2616 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Homocystinuria, pyridoxine-responsive medgen_c3502110 MedGen:C3502110 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Rippling muscle disease 2 mondo_mondo_0019947_medgen_c1832560_omim_606072_orphanet_265 MONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072,Orphanet:265 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Autosomal dominant hypocalcemia mondo_mondo_0018543_medgen_c4048195_omim_ps601198_orphanet_428 MONDO:MONDO:0018543,MedGen:C4048195,OMIM:PS601198,Orphanet:428 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD11 Immunodeficiency 11b with atopic dermatitis mondo_mondo_0054697_medgen_c4539957_omim_617638 MONDO:MONDO:0054697,MedGen:C4539957,OMIM:617638 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder mondo_mondo_0968945_medgen_c5935603_omim_620782 MONDO:MONDO:0968945,MedGen:C5935603,OMIM:620782 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMTA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Intellectual disability, autosomal dominant 54 mondo_mondo_0030920_medgen_c4540484_omim_617799 MONDO:MONDO:0030920,MedGen:C4540484,OMIM:617799 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA5A Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency mondo_mondo_0014332_medgen_c4706871_omim_615751_orphanet_401948 MONDO:MONDO:0014332,MedGen:C4706871,OMIM:615751,Orphanet:401948 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QBP condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Familial colorectal cancer type X mondo_mondo_0018604_medgen_c3896578_orphanet_440437 MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1B condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD BTD-related disorder btd_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Inherited ovarian cancer (without breast cancer) inherited_ovarian_cancer_without_breast_cancer . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Ovarian carcinoma human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAT1 BRAT1-related disorder brat1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP4 Microphthalmia with brain and digit anomalies mondo_mondo_0011936_medgen_c1864689_omim_607932_orphanet_139471 MONDO:MONDO:0011936,MedGen:C1864689,OMIM:607932,Orphanet:139471 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BGN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BGN Meester-Loeys syndrome mondo_mondo_0010515_medgen_c4310811_omim_300989 MONDO:MONDO:0010515,MedGen:C4310811,OMIM:300989 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAP31 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome mondo_mondo_0010334_medgen_c3806634_omim_300475_orphanet_369939_orphanet_369942 MONDO:MONDO:0010334,MedGen:C3806634,OMIM:300475,Orphanet:369939,Orphanet:369942 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS4 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D1 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALNT1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GLCT condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GAT3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 AXIN2-related attenuated familial adenomatous polyposis mondo_mondo_0018426_medgen_c5680012_orphanet_401911 MONDO:MONDO:0018426,MedGen:C5680012,Orphanet:401911 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Acquired hemoglobin H disease mondo_mondo_0010328_medgen_c0585216_omim_300448_orphanet_231401 MONDO:MONDO:0010328,MedGen:C0585216,OMIM:300448,Orphanet:231401 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP TREX1-related disorder trex1_related_disorder MedGen:CN239414 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP9A Neurodevelopmental disorder with poor growth and behavioral abnormalities mondo_mondo_0859377_medgen_c5830273_omim_620242 MONDO:MONDO:0859377,MedGen:C5830273,OMIM:620242 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B2 Zimmermann-Laband syndrome 2 mondo_mondo_0014646_medgen_c4225321_omim_616455_orphanet_3473 MONDO:MONDO:0014646,MedGen:C4225321,OMIM:616455,Orphanet:3473 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0C condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATN1 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies mondo_mondo_0032781_medgen_c5193125_omim_618494 MONDO:MONDO:0032781,MedGen:C5193125,OMIM:618494 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATG7 Spinocerebellar ataxia, autosomal recessive 31 mondo_mondo_0030323_medgen_c5543627_omim_619422 MONDO:MONDO:0030323,MedGen:C5543627,OMIM:619422 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 ASS1-related disorder ass1_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSL Chondrodysplasia punctata, brachytelephalangic, autosomal mondo_mondo_0011238_medgen_c1844853_omim_602497 MONDO:MONDO:0011238,MedGen:C1844853,OMIM:602497 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA METACHROMATIC LEUKODYSTROPHY, SEVERE medgen_c4017094 MedGen:C4017094 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA ARSA-related disorder arsa_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL2BP condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Coffin-Siris syndrome mondo_mondo_0015452_medgen_c0265338_omim_ps135900_orphanet_1465 MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP35 Martsolf syndrome 1 mondo_mondo_8000008_medgen_c5542298_omim_212720_orphanet_1387 MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720,Orphanet:1387 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARCN1 condition not provided condition_not_provided .|MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Differences in sex development differences_in_sex_development . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Neoplasm of stomach human_phenotype_ontology_hp_0006753_mondo_mondo_0021085_medgen_c0038356 Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Inherited polyposis and early onset colorectal cancer - germline testing inherited_polyposis_and_early_onset_colorectal_cancer_germline_testing . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Gardner syndrome mondo_mondo_0019336_medgen_c0017097 MONDO:MONDO:0019336,MedGen:C0017097 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 Hereditary spastic paraplegia 51 mondo_mondo_0013401_medgen_c3151056_omim_613744_orphanet_280763 MONDO:MONDO:0013401,MedGen:C3151056,OMIM:613744,Orphanet:280763 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP FANCC-related disorder fancc_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP Dystonia 31 mondo_mondo_0030455_medgen_c5562001_omim_619565 MONDO:MONDO:0030455,MedGen:C5562001,OMIM:619565 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKH Craniometaphyseal dysplasia, autosomal dominant mondo_mondo_0007397_medgen_c1852502_omim_123000_orphanet_1522 MONDO:MONDO:0007397,MedGen:C1852502,OMIM:123000,Orphanet:1522 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK3 Intellectual disability-hypotonia-spasticity-sleep disorder syndrome mondo_mondo_0014210_medgen_c3809672_omim_615493_orphanet_356996 MONDO:MONDO:0014210,MedGen:C3809672,OMIM:615493,Orphanet:356996 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALX3 Frontorhiny mondo_mondo_0007636_medgen_c5574965_omim_136760_orphanet_391474 MONDO:MONDO:0007636,MedGen:C5574965,OMIM:136760,Orphanet:391474 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG12 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 Autosomal recessive complex spastic paraplegia type 9B mondo_mondo_0014702_medgen_c5568980_omim_616586_orphanet_447760 MONDO:MONDO:0014702,MedGen:C5568980,OMIM:616586,Orphanet:447760 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AK2 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO2 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG2 Congenital bilateral aplasia of vas deferens from CFTR mutation mondo_mondo_0010178_medgen_c0403814_omim_277180_orphanet_48 MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS18 Microcornea-myopic chorioretinal atrophy mondo_mondo_0014195_medgen_c3809567_omim_615458_orphanet_369970 MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458,Orphanet:369970 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Dilated cardiomyopathy 1AA mondo_mondo_0012808_medgen_c2677338_omim_612158_orphanet_154 MONDO:MONDO:0012808,MedGen:C2677338,OMIM:612158,Orphanet:154 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Congenital myopathy with fiber type disproportion mondo_mondo_0009711_medgen_c0546264_orphanet_2020 MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSF3 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACOX1 condition not provided condition_not_provided MedGen:C3661900 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADS ACADS-related disorder acads_related_disorder . 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 9 9 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNFX1 Immunodeficiency 91 and hyperinflammation mondo_mondo_0030491_medgen_c5562073_omim_619644 MONDO:MONDO:0030491,MedGen:C5562073,OMIM:619644 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT5A Autosomal dominant Robinow syndrome 1 mondo_mondo_0024455_medgen_c4551475_omim_180700_orphanet_3107_orphanet_97360 MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10B condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Wolfram syndrome mondo_mondo_0018105_medgen_c0043207_orphanet_3463 MONDO:MONDO:0018105,MedGen:C0043207,Orphanet:3463 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Hydrocephalus, congenital, 3, with brain anomalies mondo_mondo_0054794_medgen_c4747885_omim_617967 MONDO:MONDO:0054794,MedGen:C4747885,OMIM:617967 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR4 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASF1 Neurodevelopmental disorder with absent language and variable seizures mondo_mondo_0032876_medgen_c5231469_omim_618707 MONDO:MONDO:0032876,MedGen:C5231469,OMIM:618707 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS WAS-related disorder was_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWA1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS16 condition not provided condition_not_provided .|MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13C Young-onset Parkinson disease mondo_mondo_0017279_medgen_c4275179_orphanet_2828 MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA21 X-linked myopathy with excessive autophagy mondo_mondo_0010684_medgen_c1839615_omim_310440_orphanet_25980 MONDO:MONDO:0010684,MedGen:C1839615,OMIM:310440,Orphanet:25980 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP2 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements mondo_mondo_0032900_medgen_c5231491_omim_618760 MONDO:MONDO:0032900,MedGen:C5231491,OMIM:618760 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMOD UMOD-related disorder umod_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGGT1 Congenital disorder of glycosylation, type IIcc mondo_mondo_0980705_medgen_cn380045_omim_621381 MONDO:MONDO:0980705,MedGen:CN380045,OMIM:621381 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP3 Hepatorenocardiac degenerative fibrosis mondo_mondo_0859254_medgen_c5676996_omim_619902 MONDO:MONDO:0859254,MedGen:C5676996,OMIM:619902 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP4 Microcephaly and chorioretinopathy 3 mondo_mondo_0014592_medgen_c4225362_omim_616335 MONDO:MONDO:0014592,MedGen:C4225362,OMIM:616335 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 TUBB3-related disorder tubb3_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A TUBA1A-related disorder tuba1a_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC5 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism mondo_mondo_0030999_medgen_c5543228_omim_619244 MONDO:MONDO:0030999,MedGen:C5543228,OMIM:619244 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Spondylometaphyseal dysplasia, Kozlowski type mondo_mondo_0008477_medgen_c0265280_omim_184252_orphanet_93314 MONDO:MONDO:0008477,MedGen:C0265280,OMIM:184252,Orphanet:93314 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Neuronopathy, distal hereditary motor, autosomal dominant 8 mondo_mondo_0010839_medgen_c1838492_omim_600175_orphanet_1216 MONDO:MONDO:0010839,MedGen:C1838492,OMIM:600175,Orphanet:1216 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 TRPS1-related disorder trps1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP11 condition not provided condition_not_provided .|MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM8 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM8 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC6B Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy mondo_mondo_0060640_medgen_c4693390_omim_617862 MONDO:MONDO:0060640,MedGen:C4693390,OMIM:617862 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Congenital hypothyroidism human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 Congenital myopathy 23 mondo_mondo_0012240_medgen_c1836447_omim_609285 MONDO:MONDO:0012240,MedGen:C1836447,OMIM:609285 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPI1 Triosephosphate isomerase deficiency mondo_mondo_0014221_medgen_c1860808_omim_615512_orphanet_868 MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 TP63-related disorder tp63_related_disorder MedGen:CN380159 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOPORS Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB TNXB-related disorder tnxb_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMX2 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity mondo_mondo_0032887_medgen_c5231480_omim_618730 MONDO:MONDO:0032887,MedGen:C5231480,OMIM:618730 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM260 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM231 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM231 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126A condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TINF2 Dyskeratosis congenita, autosomal dominant 1 mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM6 Spinocerebellar ataxia type 35 mondo_mondo_0013485_medgen_c3888031_omim_613908_orphanet_276193 MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM5 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Multiple self-healing squamous epithelioma mondo_mondo_0007566_medgen_c0546476_omim_132800_orphanet_65748 MONDO:MONDO:0007566,MedGen:C0546476,OMIM:132800,Orphanet:65748 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERC condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN3 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX20 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 TBL1XR1-related disorder tbl1xr1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome mondo_mondo_0011970_medgen_c1842531_omim_608105_orphanet_163727 MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105,Orphanet:163727 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYP Intellectual disability, X-linked 96 mondo_mondo_0010429_medgen_c3275408_omim_300802_orphanet_777 MONDO:MONDO:0010429,MedGen:C3275408,OMIM:300802,Orphanet:777 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN1 Intellectual disability, X-linked 50 mondo_mondo_0010251_medgen_c1848087_omim_300115_orphanet_777 MONDO:MONDO:0010251,MedGen:C1848087,OMIM:300115,Orphanet:777 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUCLA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST14 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Neuropathy, hereditary sensory and autonomic, type 1A mondo_mondo_0008086_medgen_c5235211_omim_162400 MONDO:MONDO:0008086,MedGen:C5235211,OMIM:162400 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Hereditary sensory and autonomic neuropathy type 1 mondo_mondo_0018213_medgen_c0020071_orphanet_36386 MONDO:MONDO:0018213,MedGen:C0020071,Orphanet:36386 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEF2 Spermatogenic failure 43 mondo_mondo_0032898_medgen_c5231490_omim_618751 MONDO:MONDO:0032898,MedGen:C5231490,OMIM:618751 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 SOX9-related disorder sox9_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORD Neuronopathy, distal hereditary motor, autosomal recessive 8 mondo_mondo_0030055_medgen_c5394466_omim_618912_orphanet_700508 MONDO:MONDO:0030055,MedGen:C5394466,OMIM:618912,Orphanet:700508 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 Spastic tetraplegia and axial hypotonia, progressive mondo_mondo_0032828_medgen_c5231422_omim_618598 MONDO:MONDO:0032828,MedGen:C5231422,OMIM:618598 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOCS1 Autoinflammatory syndrome with immunodeficiency mondo_mondo_0800130_medgen_c5543547_omim_619375 MONDO:MONDO:0800130,MedGen:C5543547,OMIM:619375 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRNP200 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNORD118 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAPC4 Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction mondo_mondo_0957791_medgen_c5882695_omim_620515 MONDO:MONDO:0957791,MedGen:C5882695,OMIM:620515 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMO Congenital hypothalamic hamartoma syndrome mondo_mondo_0009436_medgen_c5435677_omim_241800 MONDO:MONDO:0009436,MedGen:C5435677,OMIM:241800 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 Loeys-Dietz syndrome 6 mondo_mondo_0030500_medgen_c5562041_omim_619656 MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal dominant mondo_mondo_0008172_medgen_c2674695_omim_167100_orphanet_2796 MONDO:MONDO:0008172,MedGen:C2674695,OMIM:167100,Orphanet:2796 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A3 Parkinsonism-dystonia, infantile mondo_mondo_0013150_medgen_c2751067_omim_ps613135_orphanet_238455 MONDO:MONDO:0013150,MedGen:C2751067,OMIM:PS613135,Orphanet:238455 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A3 Classic dopamine transporter deficiency syndrome mondo_mondo_0054835_medgen_c5700336_omim_613135_orphanet_238455 MONDO:MONDO:0054835,MedGen:C5700336,OMIM:613135,Orphanet:238455 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 SLC6A1-related disorder slc6a1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A9 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 GLUT1 deficiency syndrome mondo_mondo_0000188_medgen_c1847501_omim_ps606777 MONDO:MONDO:0000188,MedGen:C1847501,OMIM:PS606777 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mondo_mondo_0014175_medgen_c3809443_omim_615418_orphanet_1369 MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418,Orphanet:1369 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A15 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A5 Oculocutaneous albinism type 6 mondo_mondo_0018264_medgen_c3805375_omim_113750_orphanet_370097 MONDO:MONDO:0018264,MedGen:C3805375,OMIM:113750,Orphanet:370097 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A5 SLC22A5-related disorder slc22a5_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC20A2 SLC20A2-related disorder slc20a2_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A2 Developmental and epileptic encephalopathy, 41 mondo_mondo_0014916_medgen_c4310717_omim_617105 MONDO:MONDO:0014916,MedGen:C4310717,OMIM:617105 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A1 Bartter syndrome mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SI SI-related disorder si_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOX SHOX-related short stature mondo_mondo_0010367_medgen_c1845118_omim_300582_orphanet_314795 MONDO:MONDO:0010367,MedGen:C1845118,OMIM:300582,Orphanet:314795 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC1 Spermatogenic failure 75 mondo_mondo_0030984_medgen_c5677014_omim_619949 MONDO:MONDO:0030984,MedGen:C5677014,OMIM:619949 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPC Hereditary pulmonary alveolar proteinosis mondo_mondo_0012580_medgen_c3711368_omim_ps265120_orphanet_264675 MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPB condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFRP4 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B2 Craniofacial microsomia 1 mondo_mondo_0958175_medgen_c3495417_omim_164210_orphanet_374 MONDO:MONDO:0958175,MedGen:C3495417,OMIM:164210,Orphanet:374 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINF1 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON Congenital myopathy with fiber type disproportion mondo_mondo_0009711_medgen_c0546264_orphanet_2020 MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SECISBP2 Thyroid hormone metabolism, abnormal 1 mondo_mondo_0800046_medgen_c5676891_omim_609698_orphanet_171706 MONDO:MONDO:0800046,MedGen:C5676891,OMIM:609698,Orphanet:171706 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCYL2 Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum mondo_mondo_0032903_medgen_c5231494_omim_618766 MONDO:MONDO:0032903,MedGen:C5231494,OMIM:618766 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF1 Charcot-Marie-Tooth disease type 4B3 mondo_mondo_0014117_medgen_c3695063_omim_615284_orphanet_363981 MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB1 Kohlschutter-Tonz syndrome-like mondo_mondo_0030990_medgen_c5543202_omim_619229 MONDO:MONDO:0030990,MedGen:C5543202,OMIM:619229 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SART3 Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis intellectual_disability_neurodevelopmental_defects_and_developmental_delay_with_46_xy_gonadal_dysgenesis . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome mondo_mondo_0020745_medgen_c5542154_omim_115000 MONDO:MONDO:0020745,MedGen:C5542154,OMIM:115000 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC1 Intellectual developmental disorder, autosomal recessive 70 mondo_mondo_0032729_medgen_c5193077_omim_618402 MONDO:MONDO:0032729,MedGen:C5193077,OMIM:618402 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH4A condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS24 Diamond-Blackfan anemia 3 mondo_mondo_0012529_medgen_c1857719_omim_610629_orphanet_124 MONDO:MONDO:0012529,MedGen:C1857719,OMIM:610629,Orphanet:124 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS24 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL13 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type mondo_mondo_0032885_medgen_c5231478_omim_618728 MONDO:MONDO:0032885,MedGen:C5231478,OMIM:618728 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPIA Deficiency of ribose-5-phosphate isomerase mondo_mondo_0012073_medgen_c1291609_omim_608611_orphanet_440706 MONDO:MONDO:0012073,MedGen:C1291609,OMIM:608611,Orphanet:440706 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR X-linked cone-rod dystrophy mondo_mondo_0021155_medgen_cn323387 MONDO:MONDO:0021155,MedGen:CN323387 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO4 Bicuspid aortic valve human_phenotype_ontology_hp_0001647_medgen_c0149630 Human_Phenotype_Ontology:HP:0001647,MedGen:C0149630 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO4 Ascending tubular aorta aneurysm human_phenotype_ontology_hp_0004970_medgen_c0856747 Human_Phenotype_Ontology:HP:0004970,MedGen:C0856747 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 condition not provided condition_not_provided .|MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 NEB-related disorder neb_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHAG Rh-null, regulator type medgen_c1849387_omim_268150 MedGen:C1849387,OMIM:268150 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RETREG1 Neuropathy, hereditary sensory and autonomic, type 2B mondo_mondo_0013142_medgen_c2751092_omim_613115_orphanet_970 MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115,Orphanet:970 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET MEN2 phenotype: Unclassified men2_phenotype_unclassified MedGen:CN311636 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RERE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Rothmund-Thomson syndrome mondo_mondo_0010002_medgen_c0032339_omim_ps268400_orphanet_2909 MONDO:MONDO:0010002,MedGen:C0032339,OMIM:PS268400,Orphanet:2909 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDX condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBCK1 Polyglucosan body myopathy 1 without immunodeficiency medgen_c4017232 MedGen:C4017232 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Small cell lung carcinoma human_phenotype_ontology_hp_0030357_mondo_mondo_0008433_mesh_d055752_medgen_c0149925_omim_182280_orphanet_70573 Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAX Isolated microphthalmia 3 mondo_mondo_0012604_medgen_c5774181_omim_611038_orphanet_2542 MONDO:MONDO:0012604,MedGen:C5774181,OMIM:611038,Orphanet:2542 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Basal cell carcinoma, susceptibility to, 1 mondo_mondo_0011556_medgen_c2751544_omim_605462 MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 LEOPARD syndrome 2 mondo_mondo_0012691_medgen_c1969056_omim_611554_orphanet_500 MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554,Orphanet:500 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Familial ovarian cancer mondo_mondo_0016248_medgen_c5679802 MONDO:MONDO:0016248,MedGen:C5679802 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Familial ovarian cancer mondo_mondo_0016248_medgen_c5679802 MONDO:MONDO:0016248,MedGen:C5679802 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 RAD50-related disorder rad50_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome mondo_mondo_0014886_medgen_c4310745_omim_617051_orphanet_488627 MONDO:MONDO:0014886,MedGen:C4310745,OMIM:617051,Orphanet:488627 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Hydrolethalus syndrome 1 mondo_mondo_0009365_medgen_c1856016_omim_236680_orphanet_2189 MONDO:MONDO:0009365,MedGen:C1856016,OMIM:236680,Orphanet:2189 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUM1 Spinocerebellar ataxia 47 mondo_mondo_0033482_medgen_c4693672_omim_620719_orphanet_642747 MONDO:MONDO:0033482,MedGen:C4693672,OMIM:620719,Orphanet:642747 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRC Immunodeficiency 105 mondo_mondo_0800104_medgen_c5677005_omim_619924 MONDO:MONDO:0800104,MedGen:C5677005,OMIM:619924 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH1R condition not provided condition_not_provided .|MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCHD1 Autism, susceptibility to, X-linked 4 mondo_mondo_0010440_medgen_c0795888_omim_300830 MONDO:MONDO:0010440,MedGen:C0795888,OMIM:300830 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCD3 Combined oxidative phosphorylation deficiency 51 mondo_mondo_0033631_medgen_c5436703_omim_619057 MONDO:MONDO:0033631,MedGen:C5436703,OMIM:619057 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAT1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 Charcot-Marie-Tooth disease X-linked recessive 5 mondo_mondo_0010699_medgen_c1839566_omim_311070_orphanet_99014 MONDO:MONDO:0010699,MedGen:C1839566,OMIM:311070,Orphanet:99014 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF3 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Stargardt disease 4 mondo_mondo_0011370_medgen_c1863534_omim_603786_orphanet_827 MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,Orphanet:827 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 PROM1-related disorder prom1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRODH Schizophrenia 4 mondo_mondo_0010943_medgen_c1833247_omim_600850 MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM16 Left ventricular noncompaction 8 mondo_mondo_0014152_medgen_c3809288_omim_615373_orphanet_154_orphanet_54260 MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R13L Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities mondo_mondo_0957795_medgen_c5882696_omim_620519 MONDO:MONDO:0957795,MedGen:C5882696,OMIM:620519 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIBP1 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities mondo_mondo_0859283_medgen_c5774209_omim_620024 MONDO:MONDO:0859283,MedGen:C5774209,OMIM:620024 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 mondo_mondo_0009783_medgen_c4225153_omim_258450_orphanet_254886 MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 Autosomal recessive nonsyndromic hearing loss 70 mondo_mondo_0013978_medgen_c1824925_omim_614934_orphanet_90636 MONDO:MONDO:0013978,MedGen:C1824925,OMIM:614934,Orphanet:90636 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNP Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCB Multiple mitochondrial dysfunctions syndrome 6 mondo_mondo_0054785_medgen_c4693741_omim_617954_orphanet_569290 MONDO:MONDO:0054785,MedGen:C4693741,OMIM:617954,Orphanet:569290 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXNB2 condition not provided condition_not_provided . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD3 Bone fragility with contractures, arterial rupture, and deafness mondo_mondo_0012892_medgen_c2676285_omim_612394_orphanet_300284 MONDO:MONDO:0012892,MedGen:C2676285,OMIM:612394,Orphanet:300284 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP1 Epidermolysis bullosa simplex due to plakophilin deficiency mondo_mondo_0011472_medgen_c1858302_omim_604536_orphanet_158668 MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536,Orphanet:158668 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PINK1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 mondo_mondo_0011313_medgen_c4012727_omim_603387_orphanet_83473 MONDO:MONDO:0011313,MedGen:C4012727,OMIM:603387,Orphanet:83473 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 Glycogen storage disease IXa2 mondo_mondo_0100439_medgen_c2748941 MONDO:MONDO:0100439,MedGen:C2748941 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX Hypophosphataemia or rickets hypophosphataemia_or_rickets . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM3 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX3 Peroxisome biogenesis disorder 10A (Zellweger) mondo_mondo_0013948_medgen_c3553999_omim_614882_orphanet_912 MONDO:MONDO:0013948,MedGen:C3553999,OMIM:614882,Orphanet:912 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX26 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX26 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRB Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome mondo_mondo_0014704_medgen_c4225270_omim_616592_orphanet_477831 MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592,Orphanet:477831 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6D Joubert syndrome 22 mondo_mondo_0014297_medgen_c3810278_omim_615665_orphanet_2754 MONDO:MONDO:0014297,MedGen:C3810278,OMIM:615665,Orphanet:2754 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Congenital stationary night blindness autosomal dominant 2 mondo_mondo_0008099_medgen_c1876182_omim_163500_orphanet_215 MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE3A Brachydactyly-arterial hypertension syndrome mondo_mondo_0007211_medgen_c1862170_omim_112410_orphanet_1276 MONDO:MONDO:0007211,MedGen:C1862170,OMIM:112410,Orphanet:1276 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE11A Pigmented nodular adrenocortical disease, primary, 2 mondo_mondo_0012505_medgen_c1864851_omim_610475_orphanet_189439 MONDO:MONDO:0012505,MedGen:C1864851,OMIM:610475,Orphanet:189439 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE10A Infantile-onset generalized dyskinesia with orofacial involvement mondo_mondo_0044637_medgen_c5567464_omim_616921_orphanet_494526 MONDO:MONDO:0044637,MedGen:C5567464,OMIM:616921,Orphanet:494526 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Waardenburg syndrome mondo_mondo_0018094_medgen_c3266898_omim_ps193500_orphanet_3440 MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration mondo_mondo_0011798_medgen_c1846582 MONDO:MONDO:0011798,MedGen:C1846582 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Breast cancer, susceptibility to medgen_c3469522 MedGen:C3469522 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPN1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPN1 Oculopharyngeal muscular dystrophy 1 mondo_mondo_0958176_medgen_cn376802_omim_164300 MONDO:MONDO:0958176,MedGen:CN376802,OMIM:164300 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPC1L Oocyte/zygote/embryo maturation arrest 22 mondo_mondo_0976137_medgen_c5975626_omim_621093 MONDO:MONDO:0976137,MedGen:C5975626,OMIM:621093 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG OTOG-related disorder otog_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOA Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSTM1 Autosomal recessive osteopetrosis 5 mondo_mondo_0009817_medgen_c1968603_omim_259720_orphanet_85179 MONDO:MONDO:0009817,MedGen:C1968603,OMIM:259720,Orphanet:85179 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC6 Meier-Gorlin syndrome 3 mondo_mondo_0013430_medgen_c3151113_omim_613803_orphanet_2554 MONDO:MONDO:0013430,MedGen:C3151113,OMIM:613803,Orphanet:2554 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPTN OPTN-related disorder optn_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OGDHL Yoon-Bellen neurodevelopmental syndrome mondo_mondo_0859221_medgen_c5562066_omim_619701 MONDO:MONDO:0859221,MedGen:C5562066,OMIM:619701 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Retinitis pigmentosa 23 mondo_mondo_0010320_medgen_c1419610_omim_300424_orphanet_791 MONDO:MONDO:0010320,MedGen:C1419610,OMIM:300424,Orphanet:791 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODC1 Neurodevelopmental disorder with alopecia and brain abnormalities mondo_mondo_0033642_medgen_c5436741_omim_619075_orphanet_544488 MONDO:MONDO:0033642,MedGen:C5436741,OMIM:619075,Orphanet:544488 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD2 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 Nonsyndromic Oculocutaneous Albinism nonsyndromic_oculocutaneous_albinism . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK2 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5C3A condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 4p partial monosomy syndrome mondo_mondo_0008684_medgen_c1956097_omim_194190_orphanet_280 MONDO:MONDO:0008684,MedGen:C1956097,OMIM:194190,Orphanet:280 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRL Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC2 Niemann-Pick disease, type C mondo_mondo_0018982_medgen_c0220756_orphanet_646 MONDO:MONDO:0018982,MedGen:C0220756,Orphanet:646 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP5 Oocyte/zygote/embryo maturation arrest 19 mondo_mondo_0957231_medgen_c5830442_omim_620333 MONDO:MONDO:0957231,MedGen:C5830442,OMIM:620333 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP12 Familial cold autoinflammatory syndrome 2 mondo_mondo_0012724_medgen_c2673198_omim_611762_orphanet_247868 MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRC4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome mondo_mondo_0014472_medgen_c4015067_omim_616050_orphanet_436166 MONDO:MONDO:0014472,MedGen:C4015067,OMIM:616050,Orphanet:436166 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX6-2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHEJ1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Axillary freckling human_phenotype_ontology_hp_0000997_medgen_c1860335 Human_Phenotype_Ontology:HP:0000997,MedGen:C1860335 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROG3 Congenital malabsorptive diarrhea 4 human_phenotype_ontology_hp_6001346_mondo_mondo_0012479_medgen_c1835888_omim_610370_orphanet_83620 Human_Phenotype_Ontology:HP:6001346,MONDO:MONDO:0012479,MedGen:C1835888,OMIM:610370,Orphanet:83620 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEDD4L Periventricular nodular heterotopia 7 mondo_mondo_0014966_medgen_c4310669_omim_617201 MONDO:MONDO:0014966,MedGen:C4310669,OMIM:617201 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS8 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF2 Chronic granulomatous disease mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN NALCN-related disorder nalcn_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYSM1 Bone marrow failure syndrome 4 mondo_mondo_0020856_medgen_c4748257_omim_618116 MONDO:MONDO:0020856,MedGen:C4748257,OMIM:618116 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYPN condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Monogenic hearing loss monogenic_hearing_loss . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYLK condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Hypertrophic cardiomyopathy 10 mondo_mondo_0012112_medgen_c1834460_omim_608758 MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7B Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 mondo_mondo_0025708_medgen_c5543476_omim_619351 MONDO:MONDO:0025708,MedGen:C5543476,OMIM:619351 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR Hereditary spastic paraplegia 55 mondo_mondo_0014020_medgen_c3539506_omim_615035_orphanet_320375 MONDO:MONDO:0014020,MedGen:C3539506,OMIM:615035,Orphanet:320375 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTO1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFD1 Neural tube defects, folate-sensitive mondo_mondo_0011120_medgen_c1866558_omim_601634_orphanet_823 MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634,Orphanet:823 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSRB3 Autosomal recessive nonsyndromic hearing loss 74 mondo_mondo_0013386_medgen_c2239351_omim_613718_orphanet_90636 MONDO:MONDO:0013386,MedGen:C2239351,OMIM:613718,Orphanet:90636 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS22 Hypotonia with lactic acidemia and hyperammonemia mondo_mondo_0012718_medgen_c2673642_omim_611719_orphanet_137908 MONDO:MONDO:0012718,MedGen:C2673642,OMIM:611719,Orphanet:137908 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPIG6B Thrombocytopenia, anemia, and myelofibrosis mondo_mondo_0044316_medgen_c4479504_omim_617441 MONDO:MONDO:0044316,MedGen:C4479504,OMIM:617441 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOS Oocyte/zygote/embryo maturation arrest 20 mondo_mondo_0957278_medgen_c5830539_omim_620383 MONDO:MONDO:0957278,MedGen:C5830539,OMIM:620383 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP21 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC MMACHC-related disorder mmachc_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIPEP condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC2 MCCC2-related disorder mccc2_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBOAT7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAU2 De Lange syndrome mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Noonan syndrome 13 mondo_mondo_0033669_medgen_c5436773_omim_619087 MONDO:MONDO:0033669,MedGen:C5436773,OMIM:619087 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K20 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Cardio-facio-cutaneous syndrome mondo_mondo_0015280_medgen_c1275081_omim_ps115150_orphanet_1340 MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGI2 Nephrotic syndrome 15 mondo_mondo_0033262_medgen_c4539896_omim_617609 MONDO:MONDO:0033262,MedGen:C4539896,OMIM:617609 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK2 Autosomal dominant Parkinson disease 8 mondo_mondo_0011764_medgen_c1846862_omim_607060_orphanet_411602 MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060,Orphanet:411602 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Linear nevus sebaceous syndrome human_phenotype_ontology_hp_0010817_mondo_mondo_0008097_medgen_c4552097_omim_163200_orphanet_2612 Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 LRP5-related disorder lrp5_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT Leber congenital amaurosis 14 mondo_mondo_0013231_medgen_c2750063_omim_613341 MONDO:MONDO:0013231,MedGen:C2750063,OMIM:613341 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1A Autosomal dominant nonsyndromic hearing loss 7 mondo_mondo_0011074_medgen_c1832379_omim_601412_orphanet_90635 MONDO:MONDO:0011074,MedGen:C1832379,OMIM:601412,Orphanet:90635 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMF1 Lipase deficiency, combined mondo_mondo_0009527_medgen_c1855498_omim_246650_orphanet_535453 MONDO:MONDO:0009527,MedGen:C1855498,OMIM:246650,Orphanet:535453 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LFNG Spondylocostal dysostosis 3, autosomal recessive mondo_mondo_0012349_medgen_c1853296_omim_609813_orphanet_2311 MONDO:MONDO:0012349,MedGen:C1853296,OMIM:609813,Orphanet:2311 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LETM1 LETM1-associated clinical spectrum with predominant nervous system involvement letm1_associated_clinical_spectrum_with_predominant_nervous_system_involvement . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDHD Lactic aciduria due to D-lactic acid mondo_mondo_0009505_medgen_c5193006_omim_245450 MONDO:MONDO:0009505,MedGen:C5193006,OMIM:245450 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB2 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT86 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex 2C, localized mondo_mondo_0030527_medgen_c5562011_omim_619594 MONDO:MONDO:0030527,MedGen:C5562011,OMIM:619594 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex 1A, generalized severe mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT2 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT16 Palmoplantar keratoderma, nonepidermolytic, focal 1 mondo_mondo_0013073_medgen_c4552049_omim_613000 MONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT12 Corneal dystrophy, Meesmann, 1 mondo_mondo_0020791_medgen_c5231499_omim_122100_orphanet_98954 MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100,Orphanet:98954 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Cardio-facio-cutaneous syndrome mondo_mondo_0015280_medgen_c1275081_omim_ps115150_orphanet_1340 MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL24 Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss mondo_mondo_0015006_medgen_c4310631_omim_617294_orphanet_508529 MONDO:MONDO:0015006,MedGen:C4310631,OMIM:617294,Orphanet:508529 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIZ Retinitis pigmentosa 69 mondo_mondo_0014345_medgen_c4014312_omim_615780_orphanet_791 MONDO:MONDO:0014345,MedGen:C4014312,OMIM:615780,Orphanet:791 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIDINS220 KIDINS220-related disorder kidins220_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Neonatal diabetes mellitus mondo_mondo_0016391_medgen_c0158981_orphanet_224 MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Maturity-onset diabetes of the young type 13 mondo_mondo_0014589_medgen_c4225365_omim_616329_orphanet_552 MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Developmental delay with variable intellectual disability and dysmorphic facies mondo_mondo_0859306_medgen_c5774242_omim_620098 MONDO:MONDO:0859306,MedGen:C5774242,OMIM:620098 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IYD Iodotyrosine deiodination defect mondo_mondo_0010136_medgen_c0342195_omim_274800_orphanet_95716 MONDO:MONDO:0010136,MedGen:C0342195,OMIM:274800,Orphanet:95716 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL IRF2BPL-related disorder irf2bpl_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCE Polydactyly, postaxial, type a7 mondo_mondo_0060550_medgen_c4539976_omim_617642 MONDO:MONDO:0060550,MedGen:C4539976,OMIM:617642 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IPO8 IPO8-related aortopathy ipo8_related_aortopathy . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR Hyperinsulinism due to INSR deficiency mondo_mondo_0012381_medgen_c1864952_omim_609968_orphanet_263458 MONDO:MONDO:0012381,MedGen:C1864952,OMIM:609968,Orphanet:263458 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Maturity-onset diabetes of the young type 10 mondo_mondo_0013240_medgen_c3150617_omim_613370_orphanet_552 MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 Vitelliform macular dystrophy 4 mondo_mondo_0014508_medgen_c4015342_omim_616151_orphanet_99000 MONDO:MONDO:0014508,MedGen:C4015342,OMIM:616151,Orphanet:99000 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPDH1 Retinitis pigmentosa 10 mondo_mondo_0008379_medgen_c1867299_omim_180105_orphanet_791 MONDO:MONDO:0008379,MedGen:C1867299,OMIM:180105,Orphanet:791 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPDH1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKZF1 Pancytopenia due to IKZF1 mutations mondo_mondo_0014810_medgen_c4225173_omim_616873_orphanet_317473 MONDO:MONDO:0014810,MedGen:C4225173,OMIM:616873,Orphanet:317473 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT43 Retinitis pigmentosa 81 mondo_mondo_0036482_medgen_c4693443_omim_617871 MONDO:MONDO:0036482,MedGen:C4693443,OMIM:617871 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome mondo_mondo_0014886_medgen_c4310745_omim_617051_orphanet_488627 MONDO:MONDO:0014886,MedGen:C4310745,OMIM:617051,Orphanet:488627 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Hydrolethalus syndrome 1 mondo_mondo_0009365_medgen_c1856016_omim_236680_orphanet_2189 MONDO:MONDO:0009365,MedGen:C1856016,OMIM:236680,Orphanet:2189 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYAL2 Muggenthaler-Chowdhury-Chioza syndrome mondo_mondo_0976127_medgen_c5975586_omim_621063 MONDO:MONDO:0976127,MedGen:C5975586,OMIM:621063 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 Myopathy, myofibrillar, 13, with rimmed vacuoles mondo_mondo_0976133_medgen_c5568137_omim_621078_orphanet_476093 MONDO:MONDO:0976133,MedGen:C5568137,OMIM:621078,Orphanet:476093 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Linear nevus sebaceous syndrome human_phenotype_ontology_hp_0010817_mondo_mondo_0008097_medgen_c4552097_omim_163200_orphanet_2612 Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS5 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS1 HPS1-related disorder hps1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Hemolytic anemia due to hexokinase deficiency mondo_mondo_0009340_medgen_c3150343_omim_235700_orphanet_90031 MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECTD4 Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum mondo_mondo_0859516_medgen_c5830296_omim_620250 MONDO:MONDO:0859516,MedGen:C5830296,OMIM:620250 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN4 Sick sinus syndrome 2, autosomal dominant mondo_mondo_0008102_medgen_c1834144_omim_163800_orphanet_166282 MONDO:MONDO:0008102,MedGen:C1834144,OMIM:163800,Orphanet:166282 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GZF1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSS Inherited glutathione synthetase deficiency mondo_mondo_0017909_medgen_c5979912_orphanet_32 MONDO:MONDO:0017909,MedGen:C5979912,Orphanet:32 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities mondo_mondo_0030063_medgen_c5394517_omim_618922 MONDO:MONDO:0030063,MedGen:C5394517,OMIM:618922 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA4 Neurodevelopmental disorder with or without seizures and gait abnormalities mondo_mondo_0060641_medgen_c4693391_omim_617864 MONDO:MONDO:0060641,MedGen:C4693391,OMIM:617864 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPIHBP1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP9 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOSR2 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNS condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB2 Neurodevelopmental disorder with hypotonia and dysmorphic facies mondo_mondo_0859185_medgen_c5561974_omim_619503 MONDO:MONDO:0859185,MedGen:C5561974,OMIM:619503 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUD1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Fabry disease, cardiac variant medgen_c1970820 MedGen:C1970820 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GK condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GH1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN5 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia mondo_mondo_0010444_medgen_c3550856_omim_300835_orphanet_363727 MONDO:MONDO:0010444,MedGen:C3550856,OMIM:300835,Orphanet:363727 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 Neuronopathy, distal hereditary motor, type 5A mondo_mondo_0015353_medgen_cn031873_omim_600794_orphanet_139536 MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GANAB Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD-related disorder g6pd_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTSJ1 Intellectual disability, X-linked 9 mondo_mondo_0010660_medgen_c0796215_omim_309549_orphanet_777 MONDO:MONDO:0010660,MedGen:C0796215,OMIM:309549,Orphanet:777 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHR Ovarian hyperstimulation syndrome mondo_mondo_0011972_medgen_c0085083_omim_608115_orphanet_64739 MONDO:MONDO:0011972,MedGen:C0085083,OMIM:608115,Orphanet:64739 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRRS1L condition not provided condition_not_provided .|MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FN1 Glomerulopathy with fibronectin deposits 2 mondo_mondo_0011165_medgen_c1866075_omim_601894_orphanet_84090 MONDO:MONDO:0011165,MedGen:C1866075,OMIM:601894,Orphanet:84090 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC FLNC-related disorder flnc_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB FLNB-related disorder flnb_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Oto-palato-digital syndrome, type I mondo_mondo_0010704_medgen_c0265251_omim_311300_orphanet_669_orphanet_90650 MONDO:MONDO:0010704,MedGen:C0265251,OMIM:311300,Orphanet:669,Orphanet:90650 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Frontometaphyseal dysplasia 1 mondo_mondo_0024550_medgen_c4281559_omim_305620_orphanet_1826 MONDO:MONDO:0024550,MedGen:C4281559,OMIM:305620,Orphanet:1826 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Myopathy, reducing body, X-linked, childhood-onset mondo_mondo_0010415_medgen_c4225159_omim_300718_orphanet_97239 MONDO:MONDO:0010415,MedGen:C4225159,OMIM:300718,Orphanet:97239 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Germ cell tumor of testis mondo_mondo_0010108_medgen_c1336708_omim_273300_orphanet_363504 MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF8 condition not provided condition_not_provided .|MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia mondo_mondo_0012988_medgen_c3552574_omim_612702_orphanet_478 MONDO:MONDO:0012988,MedGen:C3552574,OMIM:612702,Orphanet:478 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF23 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF10 Levy-Hollister syndrome mondo_mondo_0007872_medgen_c0265269_omim_ps149730_orphanet_2363 MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730,Orphanet:2363 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGB condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERRY3 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDXR condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW11 Neurodevelopmental, jaw, eye, and digital syndrome mondo_mondo_0030057_medgen_c5394477_omim_618914 MONDO:MONDO:0030057,MedGen:C5394477,OMIM:618914 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO28 Developmental and epileptic encephalopathy 100 mondo_mondo_0030695_medgen_c5676932_omim_619777 MONDO:MONDO:0030695,MedGen:C5676932,OMIM:619777 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 EYA1-related disorder eya1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC9 Pontocerebellar hypoplasia, type 1D mondo_mondo_0054844_medgen_c4748058_omim_618065 MONDO:MONDO:0054844,MedGen:C4748058,OMIM:618065 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC6B condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC2 EVC2-related disorder evc2_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH Glutaric acidemia IIc mondo_mondo_0700076_medgen_c3278156 MONDO:MONDO:0700076,MedGen:C3278156 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH ETFDH-related disorder etfdh_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPG5 EPG5-related disorder epg5_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELN ELN-related disorder eln_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2S3 MEHMO syndrome mondo_mondo_0010258_medgen_c1846278_omim_300148_orphanet_85282 MONDO:MONDO:0010258,MedGen:C1846278,OMIM:300148,Orphanet:85282 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B3 Vanishing white matter disease mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B1 Vanishing white matter disease mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDARADD Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant mondo_mondo_0013982_medgen_c3541517_omim_614940_orphanet_1810_orphanet_238468 MONDO:MONDO:0013982,MedGen:C3541517,OMIM:614940,Orphanet:1810,Orphanet:238468 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Deeply set eye human_phenotype_ontology_hp_0000490_human_phenotype_ontology_hp_0000663_mondo_mondo_0001210_medgen_c0423224 Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Absent or delayed speech development medgen_c3276611 MedGen:C3276611 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSE Ehlers-Danlos syndrome, musculocontractural type 2 mondo_mondo_0014236_medgen_c3809845_omim_615539_orphanet_2953 MONDO:MONDO:0014236,MedGen:C3809845,OMIM:615539,Orphanet:2953 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPAGT1 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOT1L Nil-Deshwar neurodevelopmental syndrome mondo_mondo_0979246_medgen_c6012751_omim_621265 MONDO:MONDO:0979246,MedGen:C6012751,OMIM:621265 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOLK DK1-congenital disorder of glycosylation mondo_mondo_0012556_medgen_c1835849_omim_610768_orphanet_91131 MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK11 Autoinflammatory disease, multisystem, with immune dysregulation, X-linked mondo_mondo_0957494_medgen_c5829577_omim_301109 MONDO:MONDO:0957494,MedGen:C5829577,OMIM:301109 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAL1 Primary ciliary dyskinesia 16 mondo_mondo_0013525_medgen_c3151460_omim_614017_orphanet_244 MONDO:MONDO:0013525,MedGen:C3151460,OMIM:614017,Orphanet:244 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI1 DNAI1-related disorder dnai1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 DNAH1-related disorder dnah1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD DMD-related disorder dmd_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL4 Adams-Oliver syndrome mondo_mondo_0007034_medgen_c0265268_omim_ps100300_orphanet_974 MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS100300,Orphanet:974 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHH 46,XY sex reversal 7 mondo_mondo_0009301_medgen_c1856273_omim_233420_orphanet_242 MONDO:MONDO:0009301,MedGen:C1856273,OMIM:233420,Orphanet:242 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND5A Developmental and epileptic encephalopathy, 49 mondo_mondo_0015002_medgen_c4310635_omim_617281 MONDO:MONDO:0015002,MedGen:C4310635,OMIM:617281 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX6 Intellectual developmental disorder with impaired language and dysmorphic facies mondo_mondo_0032851_medgen_c5231444_omim_618653 MONDO:MONDO:0032851,MedGen:C5231444,OMIM:618653 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDR2 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome mondo_mondo_0010077_medgen_c1849011_omim_271665_orphanet_93358 MONDO:MONDO:0010077,MedGen:C1849011,OMIM:271665,Orphanet:93358 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDB2 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCHS1 Van Maldergem syndrome 1 mondo_mondo_0011070_medgen_c4551950_omim_601390_orphanet_314679 MONDO:MONDO:0011070,MedGen:C4551950,OMIM:601390,Orphanet:314679 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC2 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS1 Hypomyelination with brain stem and spinal cord involvement and leg spasticity mondo_mondo_0014115_medgen_c4755254_omim_615281_orphanet_363412 MONDO:MONDO:0014115,MedGen:C4755254,OMIM:615281,Orphanet:363412 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B1 CYP11B1-related disorder cyp11b1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBB Chronic granulomatous disease mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CXCR4 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUX1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSF condition not provided condition_not_provided .|MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSD Neuronal ceroid lipofuscinosis 10 mondo_mondo_0012414_medgen_c1864669_omim_610127_orphanet_228337 MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAA Cataract 9 multiple types mondo_mondo_0011413_medgen_c1858679_omim_604219_orphanet_1377 MONDO:MONDO:0011413,MedGen:C1858679,OMIM:604219,Orphanet:1377 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRLF1 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB2 Ventriculomegaly-cystic kidney disease mondo_mondo_0009063_medgen_c1857423_omim_219730_orphanet_443988 MONDO:MONDO:0009063,MedGen:C1857423,OMIM:219730,Orphanet:443988 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPOX Coproporphyria medgen_c0342856 MedGen:C0342856 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CP Neurodegeneration with brain iron accumulation mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ7 Primary coenzyme Q10 deficiency 8 mondo_mondo_0014754_medgen_c4225226_omim_616733 MONDO:MONDO:0014754,MedGen:C4225226,OMIM:616733 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP Multiple epiphyseal dysplasia human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP COMP-related disorder comp_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A1 COL9A1-related disorder col9a1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 COL17A1-related disorder col17a1_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG4 Microcephalic osteodysplastic dysplasia, Saul-Wilson type mondo_mondo_0019407_medgen_c4509877_omim_618150_orphanet_85172 MONDO:MONDO:0019407,MedGen:C4509877,OMIM:618150,Orphanet:85172 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNPY3 Developmental and epileptic encephalopathy, 60 mondo_mondo_0033369_medgen_c4693663_omim_617929 MONDO:MONDO:0033369,MedGen:C4693663,OMIM:617929 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPP condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN8 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant mondo_mondo_0012391_medgen_c1864923_omim_610003_orphanet_1947 MONDO:MONDO:0012391,MedGen:C1864923,OMIM:610003,Orphanet:1947 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLMP Congenital short bowel syndrome, autosomal recessive mondo_mondo_0020718_medgen_cn296805_omim_615237 MONDO:MONDO:0020718,MedGen:CN296805,OMIM:615237 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CKAP2L condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST3 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE CHRNE-related disorder chrne_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP53 Heterotaxy, visceral, 6, autosomal mondo_mondo_0013887_medgen_c3553676_omim_614779_orphanet_450 MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP418 Cone-rod dystrophy 16 mondo_mondo_0013786_medgen_c3281045_omim_614500 MONDO:MONDO:0013786,MedGen:C3281045,OMIM:614500 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Lissencephaly 10 mondo_mondo_0030031_medgen_c5394354_omim_618873 MONDO:MONDO:0030031,MedGen:C5394354,OMIM:618873 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP152 CEP152-related disorder cep152_related_disorder MedGen:CN239248 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR1 Lymphatic malformation 9 mondo_mondo_0030270_medgen_c5543365_omim_619319 MONDO:MONDO:0030270,MedGen:C5543365,OMIM:619319 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD247 Immunodeficiency 25 mondo_mondo_0012426_medgen_c1857798_omim_610163 MONDO:MONDO:0012426,MedGen:C1857798,OMIM:610163 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Basal cell carcinoma, susceptibility to, 1 mondo_mondo_0011556_medgen_c2751544_omim_605462 MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A COACH syndrome 1 mondo_mondo_0800103_medgen_c5435651_omim_216360_orphanet_1454 MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Familial hyperparathyroidism or Hypocalciuric hypercalcaemia familial_hyperparathyroidism_or_hypocalciuric_hypercalcaemia . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 Papulosquamous eruptions papulosquamous_eruptions . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Spinocerebellar ataxia type 42 mondo_mondo_0014776_medgen_c4225205_omim_616795_orphanet_458803 MONDO:MONDO:0014776,MedGen:C4225205,OMIM:616795,Orphanet:458803 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1B Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements mondo_mondo_0032784_medgen_c5193128_omim_618497 MONDO:MONDO:0032784,MedGen:C5193128,OMIM:618497 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Familial hemiplegic migraine mondo_mondo_0000700_medgen_c0338484_omim_ps141500 MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2ORF69 Combined oxidative phosphorylation deficiency 53 mondo_mondo_0030378_medgen_c5543631_omim_619423 MONDO:MONDO:0030378,MedGen:C5543631,OMIM:619423 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF43 Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF Secondary microcephaly human_phenotype_ontology_hp_0000241_human_phenotype_ontology_hp_0000259_human_phenotype_ontology_hp_0005484_human_phenotype_ontology_hp_0005499_medgen_c0431352 Human_Phenotype_Ontology:HP:0000241,Human_Phenotype_Ontology:HP:0000259,Human_Phenotype_Ontology:HP:0005484,Human_Phenotype_Ontology:HP:0005499,MedGen:C0431352 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF Expressive language delay human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant mondo_mondo_0032660_medgen_c4749003_omim_618291 MONDO:MONDO:0032660,MedGen:C4749003,OMIM:618291 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCHE condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAS3 Hengel-Maroofian-Schols syndrome mondo_mondo_0859208_medgen_c5562032_omim_619641_orphanet_697067 MONDO:MONDO:0859208,MedGen:C5562032,OMIM:619641,Orphanet:697067 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAP31 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS5 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures mondo_mondo_0010075_medgen_c4017377_omim_271640_orphanet_642099_orphanet_93359 MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATR Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome mondo_mondo_0013806_medgen_c3281203_omim_614564_orphanet_313846 MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 ATP1A3-associated neurological disorder mondo_mondo_0700002_medgen_cn305087 MONDO:MONDO:0700002,MedGen:CN305087 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 ATP1A2-related disorder atp1a2_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A2 Neurodegeneration with brain iron accumulation mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASAH1 ASAH1-related disorders asah1_related_disorders MedGen:CN376120 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL13B Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 ARID2-related BAFopathy arid2_related_bafopathy . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF18 Retinitis pigmentosa 78 mondo_mondo_0044314_medgen_c4479481_omim_617433 MONDO:MONDO:0044314,MedGen:C4479481,OMIM:617433 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA5 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC2 Cortical dysplasia, complex, with other brain malformations 10 mondo_mondo_0032866_medgen_c5231458_omim_618677 MONDO:MONDO:0032866,MedGen:C5231458,OMIM:618677 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANTXR1 GAPO syndrome mondo_mondo_0009263_medgen_c0406723_omim_230740_orphanet_2067 MONDO:MONDO:0009263,MedGen:C0406723,OMIM:230740,Orphanet:2067 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO6 SCOTT SYNDROME mondo_mondo_0009885_medgen_c0796149_omim_262890_orphanet_806 MONDO:MONDO:0009885,MedGen:C0796149,OMIM:262890,Orphanet:806 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 ANO5-related disorder ano5_related_disorder MedGen:CN239193 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO3 Dystonia 24 mondo_mondo_0014019_medgen_c3554374_omim_615034_orphanet_420485 MONDO:MONDO:0014019,MedGen:C3554374,OMIM:615034,Orphanet:420485 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD26 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD26 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANGPTL3 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANAPC15 Autosomal recessive nonsyndromic hearing loss 63 mondo_mondo_0012670_medgen_c1969621_omim_611451_orphanet_90636 MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD2 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMMECR1 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis mondo_mondo_0010516_medgen_c4310810_omim_300990_orphanet_688581 MONDO:MONDO:0010516,MedGen:C4310810,OMIM:300990,Orphanet:688581 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG8 ALG8-related disorder alg8_related_disorder . 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG6 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG5 Polycystic kidney disease 7 mondo_mondo_0031062_medgen_c5774222_omim_620056 MONDO:MONDO:0031062,MedGen:C5774222,OMIM:620056 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 Hereditary spastic paraplegia 9A mondo_mondo_0011006_medgen_c5568978_omim_601162_orphanet_100990_orphanet_447753 MONDO:MONDO:0011006,MedGen:C5568978,OMIM:601162,Orphanet:100990,Orphanet:447753 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALB Analbuminemia medgen_c0878666_omim_616000_orphanet_86816 MedGen:C0878666,OMIM:616000,Orphanet:86816 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTR1 Renal tubular dysgenesis of genetic origin mondo_mondo_0009970_medgen_c5681536_omim_267430_orphanet_97369 MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO1 Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures mondo_mondo_0859531_medgen_c5830365_omim_620292 MONDO:MONDO:0859531,MedGen:C5830365,OMIM:620292 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF3 KINSSHIP syndrome mondo_mondo_0851095_medgen_c5543317_omim_619297 MONDO:MONDO:0851095,MedGen:C5543317,OMIM:619297 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Usher syndrome type 2 mondo_mondo_0016484_medgen_c0339534_orphanet_231178 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL2 Lethal short-limb skeletal dysplasia, Al Gazali type mondo_mondo_0011051_medgen_c1832435_omim_601356_orphanet_646136 MONDO:MONDO:0011051,MedGen:C1832435,OMIM:601356,Orphanet:646136 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS13 Thrombotic thrombocytopenic purpura mondo_mondo_0018896_medgen_c0034155_orphanet_54057 MONDO:MONDO:0018896,MedGen:C0034155,Orphanet:54057 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACY1 Aminoacylase 1 deficiency mondo_mondo_0012368_medgen_c1835922_omim_609924_orphanet_137754 MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADSB condition not provided condition_not_provided .|MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD4 Cobalamin C disease mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA7 condition not provided condition_not_provided MedGen:C3661900 8 8 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP2 Oocyte maturation defect 6 mondo_mondo_0032696_medgen_c5193047_omim_618353 MONDO:MONDO:0032696,MedGen:C5193047,OMIM:618353 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNRF3 ZNRF3-related disorder znrf3_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF808 Pancreatic agenesis 3 mondo_mondo_0975839_medgen_c5975489_omim_620991 MONDO:MONDO:0975839,MedGen:C5975489,OMIM:620991 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF711 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF462 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive mondo_mondo_0032654_medgen_c4748969_omim_618282_orphanet_641368 MONDO:MONDO:0032654,MedGen:C4748969,OMIM:618282,Orphanet:641368 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF148 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND15 Spermatogenic failure 14 mondo_mondo_0014366_medgen_c4014454_omim_615842 MONDO:MONDO:0014366,MedGen:C4014454,OMIM:615842 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM3 Intellectual developmental disorder, X-linked 112 mondo_mondo_0957496_medgen_c5829589_omim_301111 MONDO:MONDO:0957496,MedGen:C5829589,OMIM:301111 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE19 Cholestasis, progressive familial intrahepatic, 9 mondo_mondo_0030800_medgen_c5676973_omim_619849 MONDO:MONDO:0030800,MedGen:C5676973,OMIM:619849 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX4 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 Posterior polymorphous corneal dystrophy 3 mondo_mondo_0012200_medgen_c1836724_omim_609141_orphanet_98973 MONDO:MONDO:0012200,MedGen:C1836724,OMIM:609141,Orphanet:98973 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZAP70 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YIF1B Kaya-Barakat-Masson syndrome mondo_mondo_0030878_medgen_c5436856_omim_619125_orphanet_684240 MONDO:MONDO:0030878,MedGen:C5436856,OMIM:619125,Orphanet:684240 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 mondo_mondo_0030375_medgen_c5543623_omim_619418 MONDO:MONDO:0030375,MedGen:C5543623,OMIM:619418 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Charcot-Marie-Tooth disease dominant intermediate C mondo_mondo_0012012_medgen_c1842237_omim_608323_orphanet_100045 MONDO:MONDO:0012012,MedGen:C1842237,OMIM:608323,Orphanet:100045 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XYLT2 Spondylo-ocular syndrome mondo_mondo_0011604_medgen_c4225412_omim_605822_orphanet_85194 MONDO:MONDO:0011604,MedGen:C4225412,OMIM:605822,Orphanet:85194 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT7A Schinzel phocomelia syndrome mondo_mondo_0010164_medgen_c1848651_omim_276820_orphanet_2879 MONDO:MONDO:0010164,MedGen:C1848651,OMIM:276820,Orphanet:2879 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WEE2 Oocyte maturation defect 5 mondo_mondo_0020837_medgen_c4693865_omim_617996 MONDO:MONDO:0020837,MedGen:C4693865,OMIM:617996 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 WDR35-related disorder wdr35_related_disorder MedGen:CN239419 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR1 Lazy leukocyte syndrome mondo_mondo_0007883_medgen_c0272174_omim_150550_orphanet_652522 MONDO:MONDO:0007883,MedGen:C0272174,OMIM:150550,Orphanet:652522 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS35L Ritscher-Schinzel syndrome 3 mondo_mondo_0030864_medgen_c5436883_omim_619135 MONDO:MONDO:0030864,MedGen:C5436883,OMIM:619135 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS33B VPS33B-related disorder vps33b_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL VHL-related disorder vhl_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAC14 Striatonigral degeneration, childhood-onset mondo_mondo_0014889_medgen_c4310743_omim_617054_orphanet_497906 MONDO:MONDO:0014889,MedGen:C4310743,OMIM:617054,Orphanet:497906 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X USP9X-related disorder usp9x_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP7 Hao-Fountain syndrome due to USP7 mutation mondo_mondo_0958071_medgen_c5816734_omim_616863_orphanet_643538 MONDO:MONDO:0958071,MedGen:C5816734,OMIM:616863,Orphanet:643538 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP27X Intellectual disability, X-linked 105 mondo_mondo_0010510_medgen_c4310816_omim_300984 MONDO:MONDO:0010510,MedGen:C4310816,OMIM:300984 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C USH1C-related disorder ush1c_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROD UROD-related disorder urod_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR7 Li-Campeau syndrome mondo_mondo_0030963_medgen_c5543068_omim_619189 MONDO:MONDO:0030963,MedGen:C5543068,OMIM:619189 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A UBE3A-related disorder ube3a_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE2T condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Ocular albinism with congenital sensorineural hearing loss ocular_albinism_with_congenital_sensorineural_hearing_loss MedGen:CN028925 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Albinism or congenital nystagmus albinism_or_congenital_nystagmus . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB1 Macrothrombocytopenia, isolated, 1, autosomal dominant mondo_mondo_0800047_medgen_c5676892_omim_613112_orphanet_140957 MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA4A Amyotrophic lateral sclerosis type 22 mondo_mondo_0014531_medgen_c4015512_omim_616208_orphanet_803 MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208,Orphanet:803 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Hyperthyroxinemia, dystransthyretinemic mondo_mondo_0007785_medgen_c2750824_omim_145680 MONDO:MONDO:0007785,MedGen:C2750824,OMIM:145680 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Carpal tunnel syndrome 1 mondo_mondo_0020730_medgen_c5779776_omim_115430 MONDO:MONDO:0020730,MedGen:C5779776,OMIM:115430 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC7A Gastrointestinal defect and immunodeficiency syndrome mondo_mondo_0030831_medgen_c5234880_omim_ps243150 MONDO:MONDO:0030831,MedGen:C5234880,OMIM:PS243150 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC29 Spermatogenic failure 42 mondo_mondo_0032896_medgen_c5231488_omim_618745 MONDO:MONDO:0032896,MedGen:C5231488,OMIM:618745 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B TTC21B-related disorder ttc21b_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 POMGNT1-related disorder pomgnt1_related_disorder MedGen:CN239299 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR TSHR-related disorder tshr_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHB condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 Retinitis pigmentosa and erythrocytic microcytosis mondo_mondo_0014850_medgen_c4310776_omim_616959 MONDO:MONDO:0014850,MedGen:C4310776,OMIM:616959 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2 Spondyloepiphyseal dysplasia tarda, X-linked mondo_mondo_0010737_medgen_c3541456_omim_313400 MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNR Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus non_progressive_neurodevelopmental_disorder_with_spasticity_and_transient_opisthotonus . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNC1 Dilated cardiomyopathy 1Z mondo_mondo_0012745_medgen_c2678475_omim_611879_orphanet_154 MONDO:MONDO:0012745,MedGen:C2678475,OMIM:611879,Orphanet:154 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF13B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 TMPRSS3-related disorder tmprss3_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMCO1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THUMPD1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THSD4 Aortic aneurysm, familial thoracic 12 mondo_mondo_0030731_medgen_c5676959_omim_619825 MONDO:MONDO:0030731,MedGen:C5676959,OMIM:619825 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Selective pituitary resistance to thyroid hormone mondo_mondo_0007784_medgen_c1840364_omim_145650 MONDO:MONDO:0007784,MedGen:C1840364,OMIM:145650 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRA condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THBD Thrombomodulin-related bleeding disorder mondo_mondo_0013775_medgen_c3280976_omim_614486_orphanet_436169 MONDO:MONDO:0013775,MedGen:C3280976,OMIM:614486,Orphanet:436169 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 TGM1-related disorder tgm1_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGIF1 Holoprosencephaly 4 mondo_mondo_0007734_medgen_c1840528_omim_142946_orphanet_2162 MONDO:MONDO:0007734,MedGen:C1840528,OMIM:142946,Orphanet:2162 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX11 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENM3 Microphthalmia, isolated, with coloboma 9 mondo_mondo_0014059_medgen_c3554592_omim_615145_orphanet_98938 MONDO:MONDO:0014059,MedGen:C3554592,OMIM:615145,Orphanet:98938 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN1 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCN1 Transcobalamin I deficiency mondo_mondo_0008659_medgen_c0342700_omim_193090_orphanet_2967 MONDO:MONDO:0008659,MedGen:C0342700,OMIM:193090,Orphanet:2967 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCAP Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 Velocardiofacial syndrome mondo_mondo_0008644_medgen_c0220704_omim_192430_orphanet_567 MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430,Orphanet:567 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 TBC1D24-related disorder tbc1d24_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARDBP TARDBP-related disorder tardbp_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPBPL Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia mondo_mondo_0013913_medgen_c3553844_omim_614840_orphanet_478 MONDO:MONDO:0013913,MedGen:C3553844,OMIM:614840,Orphanet:478 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACO1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SZT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant mondo_mondo_0013072_medgen_c2751805_omim_612999_orphanet_261 MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUN5 Spermatogenic failure 16 mondo_mondo_0014961_medgen_c4310674_omim_617187 MONDO:MONDO:0014961,MedGen:C4310674,OMIM:617187 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SULT2B1 Ichthyosis, congenital, autosomal recessive 14 mondo_mondo_0033091_medgen_c4539754_omim_617571 MONDO:MONDO:0033091,MedGen:C4539754,OMIM:617571 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL5 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Developmental and epileptic encephalopathy, 15 mondo_mondo_0014003_medgen_c3554316_omim_615006_orphanet_3451 MONDO:MONDO:0014003,MedGen:C3554316,OMIM:615006,Orphanet:3451 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST14 Autosomal recessive congenital ichthyosis 11 mondo_mondo_0011218_medgen_c1835851_omim_602400_orphanet_91132 MONDO:MONDO:0011218,MedGen:C1835851,OMIM:602400,Orphanet:91132 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRSF1 Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities mondo_mondo_0957583_medgen_c5882684_omim_620489 MONDO:MONDO:0957583,MedGen:C5882684,OMIM:620489 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC2 Neuropathy, hereditary sensory and autonomic, type 1C mondo_mondo_0013337_medgen_c3150896_omim_613640_orphanet_36386 MONDO:MONDO:0013337,MedGen:C3150896,OMIM:613640,Orphanet:36386 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Amyotrophic lateral sclerosis 27, juvenile mondo_mondo_0859529_medgen_c5830359_omim_620285 MONDO:MONDO:0859529,MedGen:C5830359,OMIM:620285 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPI1 Agammaglobulinemia 10, autosomal dominant mondo_mondo_0030529_medgen_c5676900_omim_619707 MONDO:MONDO:0030529,MedGen:C5676900,OMIM:619707 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPECC1L Teebi hypertelorism syndrome 1 mondo_mondo_0800025_medgen_cn306405_omim_145420_orphanet_1519 MONDO:MONDO:0800025,MedGen:CN306405,OMIM:145420,Orphanet:1519 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP110 Mycobacterium tuberculosis, susceptibility to medgen_c1834752_omim_607948 MedGen:C1834752,OMIM:607948 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Waardenburg syndrome type 2E, without neurologic involvement waardenburg_syndrome_type_2e_without_neurologic_involvement MedGen:CN069052 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX22 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRNP200 Retinitis pigmentosa 33 mondo_mondo_0012477_medgen_c1835895_omim_610359_orphanet_791 MONDO:MONDO:0012477,MedGen:C1835895,OMIM:610359,Orphanet:791 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCD1 Coffin-Siris syndrome 11 mondo_mondo_0032912_medgen_c5241442_omim_618779 MONDO:MONDO:0032912,MedGen:C5241442,OMIM:618779 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Coffin-Siris syndrome mondo_mondo_0015452_medgen_c0265338_omim_ps135900_orphanet_1465 MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 SMARCA4-related BAFopathy smarca4_related_bafopathy . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 SMARCA2-related BAFopathy smarca2_related_bafopathy . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 Congenital heart defects, multiple types, 8, with or without heterotaxy mondo_mondo_0859213_medgen_c5562042_omim_619657 MONDO:MONDO:0859213,MedGen:C5562042,OMIM:619657 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLURP1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO1B1 Rotor syndrome mondo_mondo_0009379_medgen_c0220991_omim_237450_orphanet_3111 MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Inherited distal renal tubular acidosis mondo_mondo_1060161_medgen_cn380239_omim_ps179800 MONDO:MONDO:1060161,MedGen:CN380239,OMIM:PS179800 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A8 SLC39A8-CDG mondo_mondo_0014746_medgen_c4225234_omim_616721_orphanet_468699 MONDO:MONDO:0014746,MedGen:C4225234,OMIM:616721,Orphanet:468699 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A3 Developmental and epileptic encephalopathy 102 mondo_mondo_0030881_medgen_c5676991_omim_619881 MONDO:MONDO:0030881,MedGen:C5676991,OMIM:619881 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC33A1 Huppke-Brendel syndrome mondo_mondo_0013772_medgen_c4751114_omim_614482_orphanet_300313 MONDO:MONDO:0013772,MedGen:C4751114,OMIM:614482,Orphanet:300313 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC18A2 Brain dopamine-serotonin vesicular transport disease mondo_mondo_0018130_medgen_c4303546_omim_618049_orphanet_352649 MONDO:MONDO:0018130,MedGen:C4303546,OMIM:618049,Orphanet:352649 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A1 Ketoacidosis due to monocarboxylate transporter-1 deficiency mondo_mondo_0014490_medgen_c4015186_omim_616095_orphanet_438075 MONDO:MONDO:0014490,MedGen:C4015186,OMIM:616095,Orphanet:438075 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 Hearing loss, autosomal dominant 78 mondo_mondo_0033665_medgen_c5436768_omim_619081 MONDO:MONDO:0033665,MedGen:C5436768,OMIM:619081 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC11A2 Microcytic anemia with liver iron overload mondo_mondo_0008787_medgen_c3806153_omim_206100_orphanet_83642 MONDO:MONDO:0008787,MedGen:C3806153,OMIM:206100,Orphanet:83642 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 condition not provided condition_not_provided .|MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3PXD2B Frank-Ter Haar syndrome mondo_mondo_0009579_medgen_c1855305_omim_249420_orphanet_1266_orphanet_137834 MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH SGSH-related disorder sgsh_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFRP4 Pyle metaphyseal dysplasia mondo_mondo_0009943_medgen_c0265294_omim_265900_orphanet_3005 MONDO:MONDO:0009943,MedGen:C0265294,OMIM:265900,Orphanet:3005 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX SETX-related disorder setx_related_disorder MedGen:CN239403 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPING1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINC1 SERPINC1-related disorder serpinc1_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINB7 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHAF1 Mitochondrial complex 2 deficiency, nuclear type 2 mondo_mondo_0030935_medgen_c5436933_omim_619166 MONDO:MONDO:0030935,MedGen:C5436933,OMIM:619166 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCUBE3 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 mondo_mondo_0030953_medgen_c5543057_omim_619184 MONDO:MONDO:0030953,MedGen:C5543057,OMIM:619184 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCUBE3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCUBE3 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCUBE3 Abnormality of the dentition human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCUBE3 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Myoclonus, familial, 2 mondo_mondo_0100092_medgen_c5193056_omim_618364 MONDO:MONDO:0100092,MedGen:C5193056,OMIM:618364 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Developmental and epileptic encephalopathy, 52 mondo_mondo_0033361_medgen_c4479236_omim_617350 MONDO:MONDO:0033361,MedGen:C4479236,OMIM:617350 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL1 SALL1-related disorder sall1_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG Oguchi disease mondo_mondo_0019152_medgen_c1306122_orphanet_75382 MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS SACS-related disorder sacs_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX2 RUNX2-related disorder runx2_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL15 Diamond-Blackfan anemia 12 mondo_mondo_0014245_medgen_c3809888_omim_615550_orphanet_124 MONDO:MONDO:0014245,MedGen:C3809888,OMIM:615550,Orphanet:124 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO3 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2A condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASE4 Amyotrophic lateral sclerosis type 9 mondo_mondo_0012753_medgen_c2678468_omim_611895_orphanet_803 MONDO:MONDO:0012753,MedGen:C2678468,OMIM:611895,Orphanet:803 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO RHO-related disorder rho_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHAG condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFC1 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome mondo_mondo_0044720_medgen_c3281223_omim_614575_orphanet_504476 MONDO:MONDO:0044720,MedGen:C3281223,OMIM:614575,Orphanet:504476 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH5 Fundus albipunctatus, autosomal recessive medgen_c4016746 MedGen:C4016746 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH11 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP3 Retinitis pigmentosa 66 mondo_mondo_0014093_medgen_c3715216_omim_615233_orphanet_791 MONDO:MONDO:0014093,MedGen:C3715216,OMIM:615233,Orphanet:791 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBMX RBMX-related disorder rbmx_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Bone osteosarcoma mondo_mondo_0002629_medgen_c0585442_omim_259500_orphanet_668 MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Dilated cardiomyopathy 1NN mondo_mondo_0014396_medgen_c4014656_omim_615916_orphanet_154 MONDO:MONDO:0014396,MedGen:C4014656,OMIM:615916,Orphanet:154 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD9B Neural tube defect human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 RAB3GAP1-related disorder rab3gap1_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Severe X-linked mitochondrial encephalomyopathy mondo_mondo_0010437_medgen_c3151753_omim_300816_orphanet_238329 MONDO:MONDO:0010437,MedGen:C3151753,OMIM:300816,Orphanet:238329 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB18 Warburg micro syndrome 3 mondo_mondo_0013638_medgen_c3280203_omim_614222_orphanet_2510 MONDO:MONDO:0013638,MedGen:C3280203,OMIM:614222,Orphanet:2510 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRSL1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH2 Spermatogenic failure 35 mondo_mondo_0032686_medgen_c5193038_omim_618341 MONDO:MONDO:0032686,MedGen:C5193038,OMIM:618341 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QDPR condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 Wiedemann-Rautenstrauch-like progeroid syndrome wiedemann_rautenstrauch_like_progeroid_syndrome . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUM1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTBP1 STAD syndrome mondo_mondo_0980973_medgen_cn380859_omim_621495 MONDO:MONDO:0980973,MedGen:CN380859,OMIM:621495 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB8 Proteasome-associated autoinflammatory syndrome 1 mondo_mondo_0054698_medgen_c4746851_omim_256040_orphanet_2615_orphanet_324977_orphanet_324999_orphanet_325004 MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSENEN Acne inversa, familial, 2 mondo_mondo_0013397_medgen_c3151037_omim_613736 MONDO:MONDO:0013397,MedGen:C3151037,OMIM:613736 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP Spongiform encephalopathy with neuropsychiatric features mondo_mondo_0011703_medgen_c1847650_omim_606688 MONDO:MONDO:0011703,MedGen:C1847650,OMIM:606688 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Hypertrophic cardiomyopathy 6 mondo_mondo_0010946_medgen_c1833236_omim_600858 MONDO:MONDO:0010946,MedGen:C1833236,OMIM:600858 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDX3 Spinocerebellar ataxia, autosomal recessive 32 mondo_mondo_0859245_medgen_c5676978_omim_619862 MONDO:MONDO:0859245,MedGen:C5676978,OMIM:619862 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM16 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPA2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F1 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset mondo_mondo_0859158_medgen_c5543478_omim_619352 MONDO:MONDO:0859158,MedGen:C5543478,OMIM:619352 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 POMGNT1-related disorder pomgnt1_related_disorder MedGen:CN239299 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3H Infantile cerebellar-retinal degeneration mondo_mondo_0013802_medgen_c3281192_omim_614559_orphanet_313850 MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A POLR-related leukodystrophy mondo_mondo_0100605_medgen_c5679947_orphanet_289494 MONDO:MONDO:0100605,MedGen:C5679947,Orphanet:289494 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Waardenburg syndrome type 2E, without neurologic involvement waardenburg_syndrome_type_2e_without_neurologic_involvement MedGen:CN069052 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 mondo_mondo_0012415_medgen_c1864668_omim_610131 MONDO:MONDO:0012415,MedGen:C1864668,OMIM:610131 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Facial dysmorphism-immunodeficiency-livedo-short stature syndrome mondo_mondo_0014058_medgen_c3554576_omim_615139_orphanet_352712 MONDO:MONDO:0014058,MedGen:C3554576,OMIM:615139,Orphanet:352712 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 Spinocerebellar ataxia type 25 mondo_mondo_0012103_medgen_c1837518_omim_608703_orphanet_101111 MONDO:MONDO:0012103,MedGen:C1837518,OMIM:608703,Orphanet:101111 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 PNPT1-related disorder pnpt1_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome mondo_mondo_0010152_medgen_c1848745_omim_275400_orphanet_3363 MONDO:MONDO:0010152,MedGen:C1848745,OMIM:275400,Orphanet:3363 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNLDC1 Spermatogenic failure 57 mondo_mondo_0030439_medgen_c5561988_omim_619528 MONDO:MONDO:0030439,MedGen:C5561988,OMIM:619528 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Charcot-Marie-Tooth disease type 2B2 mondo_mondo_0011570_medgen_c1854150_omim_605589_orphanet_101101 MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589,Orphanet:101101 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Autosomal recessive spinocerebellar ataxia 2 mondo_mondo_0008943_medgen_c1859298_omim_213200_orphanet_1170 MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200,Orphanet:1170 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLIN1 PLIN1-related familial partial lipodystrophy mondo_mondo_0013478_medgen_c5191005_omim_613877_orphanet_280356 MONDO:MONDO:0013478,MedGen:C5191005,OMIM:613877,Orphanet:280356 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG Angioedema, hereditary, 4 mondo_mondo_0025712_medgen_c5543503_omim_619360 MONDO:MONDO:0025712,MedGen:C5543503,OMIM:619360 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 PKP2-related disorder pkp2_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1L1 Autosomal recessive nonsyndromic hearing loss 124 mondo_mondo_0968981_medgen_c5935612_omim_620794 MONDO:MONDO:0968981,MedGen:C5935612,OMIM:620794 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PISD condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIKFYVE condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes mondo_mondo_0100283_medgen_cn300503 MONDO:MONDO:0100283,MedGen:CN300503 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Angioosteohypertrophic syndrome mondo_mondo_0007864_mesh_d007715_medgen_c0022739_omim_149000_orphanet_2346 MONDO:MONDO:0007864,MeSH:D007715,MedGen:C0022739,OMIM:149000,Orphanet:2346 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3C2A Oculocerebrodental syndrome mondo_mondo_0034145_medgen_c5193101_omim_618440_orphanet_557003 MONDO:MONDO:0034145,MedGen:C5193101,OMIM:618440,Orphanet:557003 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGV Hyperphosphatasia with intellectual disability syndrome 1 mondo_mondo_0009398_medgen_c4551502_omim_239300_orphanet_247262 MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGC Glycosylphosphatidylinositol biosynthesis defect 16 mondo_mondo_0040500_medgen_c4540521_omim_617816 MONDO:MONDO:0040500,MedGen:C4540521,OMIM:617816 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KA Spastic paraplegia 84, autosomal recessive mondo_mondo_0030482_medgen_c5562025_omim_619621_orphanet_631079 MONDO:MONDO:0030482,MedGen:C5562025,OMIM:619621,Orphanet:631079 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHYH REFSUM DISEASE, ADULT, 1 medgen_c2749345 MedGen:C2749345 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF21A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX16 Peroxisome biogenesis disorder 8B mondo_mondo_0013943_medgen_c3553960_omim_614877_orphanet_44 MONDO:MONDO:0013943,MedGen:C3553960,OMIM:614877,Orphanet:44 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX12 PEX12-related disorder pex12_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 Maturity-onset diabetes of the young type 4 mondo_mondo_0011667_medgen_c1833382_omim_606392_orphanet_552 MONDO:MONDO:0011667,MedGen:C1833382,OMIM:606392,Orphanet:552 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRB condition not provided condition_not_provided .|MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRB Acroosteolysis-keloid-like lesions-premature aging syndrome mondo_mondo_0011150_medgen_c1866182_omim_601812_orphanet_363665 MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812,Orphanet:363665 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B PDE6B-related disorder pde6b_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCCA PCCA-related disorder pcca_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX9 Oligodontia human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Foveal hypoplasia 1 mondo_mondo_0007628_medgen_c3805604_omim_136520_orphanet_2253 MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 PAX3-related disorder pax3_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX1 Otofaciocervical syndrome 2 mondo_mondo_0014254_medgen_c5442121_omim_615560 MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAPPA2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 Nizon-Isidor syndrome mondo_mondo_0030030_medgen_c5394350_omim_618872 MONDO:MONDO:0030030,MedGen:C5394350,OMIM:618872 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD5 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked mondo_mondo_0025351_medgen_c5542341_omim_301056 MONDO:MONDO:0025351,MedGen:C5542341,OMIM:301056 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOA OTOA-related disorder otoa_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC4 Meier-Gorlin syndrome 2 mondo_mondo_0013428_medgen_c3151097_omim_613800_orphanet_2554 MONDO:MONDO:0013428,MedGen:C3151097,OMIM:613800,Orphanet:2554 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Spondyloepiphyseal dysplasia tarda, X-linked mondo_mondo_0010737_medgen_c3541456_omim_313400 MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 OFD1-related disorder ofd1_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD4 Primary ciliary dyskinesia 35 mondo_mondo_0014910_medgen_c4310721_omim_617092_orphanet_244 MONDO:MONDO:0014910,MedGen:C4310721,OMIM:617092,Orphanet:244 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCLN condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 Nephrotic syndrome, type 11 mondo_mondo_0014752_medgen_c4225228_omim_616730_orphanet_656 MONDO:MONDO:0014752,MedGen:C4225228,OMIM:616730,Orphanet:656 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTNG2 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia mondo_mondo_0032878_medgen_c5231471_omim_618718 MONDO:MONDO:0032878,MedGen:C5231471,OMIM:618718 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSDHL condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1-AS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR1H4 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR3 Boudin-Mortier syndrome mondo_mondo_0859194_medgen_c5561992_omim_619543 MONDO:MONDO:0859194,MedGen:C5561992,OMIM:619543 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPM1 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 NPHP4-related disorder nphp4_related_disorder MedGen:CN239384 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 NKX2-1-related disorder nkx2_1_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKIRAS1 Diamond-Blackfan anemia 12 mondo_mondo_0014245_medgen_c3809888_omim_615550_orphanet_124 MONDO:MONDO:0014245,MedGen:C3809888,OMIM:615550,Orphanet:124 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHLRC2 Fibrosis, neurodegeneration, and cerebral angiomatosis mondo_mondo_0032651_medgen_c4748939_omim_618278_orphanet_621758 MONDO:MONDO:0032651,MedGen:C4748939,OMIM:618278,Orphanet:621758 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFU1 Spastic paraplegia 93, autosomal recessive mondo_mondo_0975796_medgen_c5975375_omim_620938 MONDO:MONDO:0975796,MedGen:C5975375,OMIM:620938 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB1 Common variable immunodeficiency mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIB Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIB Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Cafe-au-lait spot human_phenotype_ontology_hp_0000957_human_phenotype_ontology_hp_0005601_human_phenotype_ontology_hp_0007454_medgen_c0221263 Human_Phenotype_Ontology:HP:0000957,Human_Phenotype_Ontology:HP:0005601,Human_Phenotype_Ontology:HP:0007454,MedGen:C0221263 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXMIF Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK10 Ciliary dyskinesia, primary, 44 mondo_mondo_0032914_medgen_c5394063_omim_618781 MONDO:MONDO:0032914,MedGen:C5394063,OMIM:618781 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NECTIN1 Cleft lip/palate-ectodermal dysplasia syndrome mondo_mondo_0009151_medgen_c2931488_omim_225060_orphanet_3253 MONDO:MONDO:0009151,MedGen:C2931488,OMIM:225060,Orphanet:3253 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB11 Linear skin defects with multiple congenital anomalies 3 mondo_mondo_0010494_medgen_c4225421_omim_300952_orphanet_2556 MONDO:MONDO:0010494,MedGen:C4225421,OMIM:300952,Orphanet:2556 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF3 Mitochondrial complex I deficiency, nuclear type 18 mondo_mondo_0032623_medgen_c4748790_omim_618240 MONDO:MONDO:0032623,MedGen:C4748790,OMIM:618240 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA12 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCDN Neurodevelopmental disorder with infantile epileptic spasms mondo_mondo_0859162_medgen_c5543538_omim_619373 MONDO:MONDO:0859162,MedGen:C5543538,OMIM:619373 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPD3 Microcephaly 22, primary, autosomal recessive mondo_mondo_0054805_medgen_c4693834_omim_617984 MONDO:MONDO:0054805,MedGen:C4693834,OMIM:617984 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAXE Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy mondo_mondo_0014960_medgen_cn263076_omim_ps617186 MONDO:MONDO:0014960,MedGen:CN263076,OMIM:PS617186 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Mucopolysaccharidosis mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYZAP Cardiomyopathy, dilated, 2K mondo_mondo_0971175_medgen_c5935636_omim_620894 MONDO:MONDO:0971175,MedGen:C5935636,OMIM:620894 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Urogenital tract malformation human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 condition not provided condition_not_provided .|MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK MVK-related disorder mvk_related_disorder MedGen:CN239294 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Mandibuloacral dysplasia progeroid syndrome mondo_mondo_0030880_medgen_c5436867_omim_619127_orphanet_647667 MONDO:MONDO:0030880,MedGen:C5436867,OMIM:619127,Orphanet:647667 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX2 Parietal foramina 1 mondo_mondo_0008197_medgen_c1868599_omim_168500_orphanet_60015 MONDO:MONDO:0008197,MedGen:C1868599,OMIM:168500,Orphanet:60015 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH4 Spermatogenic failure 2 mondo_mondo_0007161_medgen_c1862459_omim_108420 MONDO:MONDO:0007161,MedGen:C1862459,OMIM:108420 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRAP Glucocorticoid deficiency 2 mondo_mondo_0011826_medgen_c4049714_omim_607398_orphanet_361 MONDO:MONDO:0011826,MedGen:C4049714,OMIM:607398,Orphanet:361 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Neuropathy, congenital hypomyelinating, 2 mondo_mondo_0020765_medgen_c4722277_omim_618184 MONDO:MONDO:0020765,MedGen:C4722277,OMIM:618184 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPDZ MPDZ-related disorder mpdz_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNS1 Heterotaxy, visceral, 9, autosomal, with male infertility mondo_mondo_0030070_medgen_c5394551_omim_618948 MONDO:MONDO:0030070,MedGen:C5394551,OMIM:618948 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Disorders of Intracellular Cobalamin Metabolism disorders_of_intracellular_cobalamin_metabolism MedGen:CN043592 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLYCD condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MILR1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 mondo_mondo_0012415_medgen_c1864668_omim_610131 MONDO:MONDO:0012415,MedGen:C1864668,OMIM:610131 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL8 Woodhouse-Sakati syndrome mondo_mondo_0009419_medgen_c0342286_omim_241080_orphanet_3464 MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS2 IFAP syndrome 1, with or without BRESHECK syndrome mondo_mondo_0100213_medgen_c5399971_omim_308205_orphanet_2273_orphanet_85284 MONDO:MONDO:0100213,MedGen:C5399971,OMIM:308205,Orphanet:2273,Orphanet:85284 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN3 Multiple epiphyseal dysplasia type 5 mondo_mondo_0011765_medgen_c1846843_omim_607078_orphanet_93311 MONDO:MONDO:0011765,MedGen:C1846843,OMIM:607078,Orphanet:93311 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARK2 Intellectual developmental disorder, autosomal dominant 76 mondo_mondo_0979575_medgen_c6012756_omim_621285 MONDO:MONDO:0979575,MedGen:C6012756,OMIM:621285 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Pick disease mondo_mondo_0008243_medgen_c0236642_omim_172700_orphanet_282 MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,Orphanet:282 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPRE2 Skin creases, congenital symmetric circumferential, 2 mondo_mondo_0014755_medgen_c4225225_omim_616734 MONDO:MONDO:0014755,MedGen:C4225225,OMIM:616734 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K7 Frontometaphyseal dysplasia 2 mondo_mondo_0014935_medgen_c4310697_omim_617137 MONDO:MONDO:0014935,MedGen:C4310697,OMIM:617137 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAB21L2 Colobomatous microphthalmia-rhizomelic dysplasia syndrome mondo_mondo_0014380_medgen_c4014540_omim_615877_orphanet_424099 MONDO:MONDO:0014380,MedGen:C4014540,OMIM:615877,Orphanet:424099 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE medgen_c4016992 MedGen:C4016992 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Microspherophakia human_phenotype_ontology_hp_0030961_medgen_c1562061 Human_Phenotype_Ontology:HP:0030961,MedGen:C1562061 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRSAM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Thyroid cancer, nonmedullary, 2 mondo_mondo_0008566_medgen_c4225426_omim_188470 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Large congenital melanocytic nevus human_phenotype_ontology_hp_0005600_human_phenotype_ontology_hp_0005604_mondo_mondo_0044792_medgen_c1842036_omim_137550_orphanet_626 Human_Phenotype_Ontology:HP:0005600,Human_Phenotype_Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Exudative vitreoretinopathy 1 mondo_mondo_0007589_medgen_c1851402_omim_133780_orphanet_891_orphanet_90050 MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRBA Colobomatous microphthalmia-rhizomelic dysplasia syndrome mondo_mondo_0014380_medgen_c4014540_omim_615877_orphanet_424099 MONDO:MONDO:0014380,MedGen:C4014540,OMIM:615877,Orphanet:424099 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LNPK Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum mondo_mondo_0060761_medgen_c4748137_omim_618090 MONDO:MONDO:0060761,MedGen:C4748137,OMIM:618090 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMOD3 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMOD2 Cardiomyopathy, dilated, 2G mondo_mondo_0030887_medgen_c5676995_omim_619897 MONDO:MONDO:0030887,MedGen:C5676995,OMIM:619897 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB1 Microcephaly 26, primary, autosomal dominant mondo_mondo_0030928_medgen_c5543048_omim_619179 MONDO:MONDO:0030928,MedGen:C5543048,OMIM:619179 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMF1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LITAF Charcot-Marie-Tooth disease type 1C mondo_mondo_0010995_medgen_c0270913_omim_601098_orphanet_101083 MONDO:MONDO:0010995,MedGen:C0270913,OMIM:601098,Orphanet:101083 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX4 Short stature-pituitary and cerebellar defects-small sella turcica syndrome mondo_mondo_0009880_medgen_c2678408_omim_262700_orphanet_85442 MONDO:MONDO:0009880,MedGen:C2678408,OMIM:262700,Orphanet:85442 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEPR Obesity due to leptin receptor gene deficiency mondo_mondo_0013992_medgen_c3554225_omim_614963_orphanet_179494 MONDO:MONDO:0013992,MedGen:C3554225,OMIM:614963,Orphanet:179494 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LACC1 Juvenile arthritis due to defect in LACC1 mondo_mondo_0032920_medgen_cn263340_omim_618795 MONDO:MONDO:0032920,MedGen:CN263340,OMIM:618795 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KYNU condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KY Myofibrillar myopathy 7 mondo_mondo_0014922_medgen_c4310711_omim_617114 MONDO:MONDO:0014922,MedGen:C4310711,OMIM:617114 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRTCAP3 Bardet-Biedl syndrome 20 mondo_mondo_0023670_medgen_c4310707_omim_619471 MONDO:MONDO:0023670,MedGen:C4310707,OMIM:619471 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex with mottled pigmentation mondo_mondo_0007556_medgen_c0432316_omim_131960_orphanet_79397 MONDO:MONDO:0007556,MedGen:C0432316,OMIM:131960,Orphanet:79397 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex with migratory circinate erythema mondo_mondo_0012258_medgen_c1836284_omim_609352_orphanet_158681 MONDO:MONDO:0012258,MedGen:C1836284,OMIM:609352,Orphanet:158681 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex 2A, generalized severe mondo_mondo_0030489_medgen_cn301077_omim_619555 MONDO:MONDO:0030489,MedGen:CN301077,OMIM:619555 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Dowling-Degos disease 1 mondo_mondo_0024534_medgen_c4552092_omim_179850_orphanet_79145 MONDO:MONDO:0024534,MedGen:C4552092,OMIM:179850,Orphanet:79145 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Linear nevus sebaceous syndrome human_phenotype_ontology_hp_0010817_mondo_mondo_0008097_medgen_c4552097_omim_163200_orphanet_2612 Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIZ Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF22 Spondyloepimetaphyseal dysplasia with multiple dislocations mondo_mondo_0011335_medgen_c1863732_omim_603546_orphanet_93360 MONDO:MONDO:0011335,MedGen:C1863732,OMIM:603546,Orphanet:93360 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KERA condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 cone dystrophy with supernormal rod electroretinogram cone_dystrophy_with_supernormal_rod_electroretinogram . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 Liang-Wang syndrome mondo_mondo_0032886_medgen_c5231479_omim_618729_orphanet_664438 MONDO:MONDO:0032886,MedGen:C5231479,OMIM:618729,Orphanet:664438 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK3 Pulmonary hypertension, primary, 4 mondo_mondo_0014136_medgen_c3809198_omim_615344_orphanet_422 MONDO:MONDO:0014136,MedGen:C3809198,OMIM:615344,Orphanet:422 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Familial hyperinsulinism mondo_mondo_0017182_medgen_c3888018_orphanet_276525 MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT8 Li-Ghorbani-Weisz-Hubshman syndrome mondo_mondo_0033547_medgen_c5436525_omim_618974 MONDO:MONDO:0033547,MedGen:C5436525,OMIM:618974 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 condition not provided condition_not_provided .|MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAM2 Basal ganglia calcification, idiopathic, 8, autosomal recessive mondo_mondo_0032938_medgen_c5394199_omim_618824 MONDO:MONDO:0032938,MedGen:C5394199,OMIM:618824 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITSN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB6 Amelogenesis imperfecta type 1H mondo_mondo_0014540_medgen_c4015557_omim_616221_orphanet_88661 MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA3 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B ITGA2B-related disorder itga2b_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Autosomal dominant popliteal pterygium syndrome mondo_mondo_0007334_medgen_c5848052_omim_119500_orphanet_1300 MONDO:MONDO:0007334,MedGen:C5848052,OMIM:119500,Orphanet:1300 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Type 1 diabetes mellitus 2 mondo_mondo_0007454_medgen_c1852092_omim_125852 MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKZF5 Thrombocytopenia 7 mondo_mondo_0030867_medgen_c5436874_omim_619130 MONDO:MONDO:0030867,MedGen:C5436874,OMIM:619130 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKZF1 Acute lymphoid leukemia human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 Joubert syndrome 40 mondo_mondo_0030462_medgen_c5562007_omim_619582 MONDO:MONDO:0030462,MedGen:C5562007,OMIM:619582 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH3B Retinitis pigmentosa 46 mondo_mondo_0012943_medgen_c2675496_omim_612572_orphanet_791 MONDO:MONDO:0012943,MedGen:C2675496,OMIM:612572,Orphanet:791 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IARS2 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome mondo_mondo_0014455_medgen_c4014942_omim_616007_orphanet_436174 MONDO:MONDO:0014455,MedGen:C4014942,OMIM:616007,Orphanet:436174 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD11B2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Thyroid cancer, nonmedullary, 2 mondo_mondo_0008566_medgen_c4225426_omim_188470 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Large congenital melanocytic nevus human_phenotype_ontology_hp_0005600_human_phenotype_ontology_hp_0005604_mondo_mondo_0044792_medgen_c1842036_omim_137550_orphanet_626 Human_Phenotype_Ontology:HP:0005600,Human_Phenotype_Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS4 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPDL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMOX1 Heme oxygenase 1 deficiency mondo_mondo_0013536_medgen_c1841651_omim_614034_orphanet_562509 MONDO:MONDO:0013536,MedGen:C1841651,OMIM:614034,Orphanet:562509 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCS1 Rigid spine syndrome mondo_mondo_0019951_medgen_cn293569_orphanet_97244 MONDO:MONDO:0019951,MedGen:CN293569,Orphanet:97244 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCL condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGF condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HESX1 GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES medgen_c2750027 MedGen:C2750027 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4 mondo_mondo_0014829_medgen_c4310798_omim_616911_orphanet_2268 MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECW2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCFC1 Methylmalonic acidemia with homocystinuria, type cblX mondo_mondo_0010657_medgen_c0796208_omim_309541_orphanet_369962 MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD delta Thalassemia medgen_c0271990 MedGen:C0271990 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Beta-thalassemia major mondo_mondo_0016486_medgen_c0002875_orphanet_231214 MONDO:MONDO:0016486,MedGen:C0002875,Orphanet:231214 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL2 Autosomal dominant nonsyndromic hearing loss 28 mondo_mondo_0012083_medgen_c1837640_omim_608641_orphanet_90635 MONDO:MONDO:0012083,MedGen:C1837640,OMIM:608641,Orphanet:90635 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L GREB1L-related disorder greb1l_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPX4 Spondylometaphyseal dysplasia, Sedaghatian type mondo_mondo_0009593_medgen_c1855229_omim_250220_orphanet_93317 MONDO:MONDO:0009593,MedGen:C1855229,OMIM:250220,Orphanet:93317 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA11 Autosomal dominant hypocalcemia 2 mondo_mondo_0014146_medgen_c3809243_omim_615361_orphanet_2238_orphanet_428 MONDO:MONDO:0014146,MedGen:C3809243,OMIM:615361,Orphanet:2238,Orphanet:428 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB GMPPB-related disorder gmppb_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRA2 Intellectual developmental disorder, X-linked, syndromic, Pilorge type mondo_mondo_0024772_medgen_c5676881_omim_301076 MONDO:MONDO:0024772,MedGen:C5676881,OMIM:301076 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIPC3 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFI1B Platelet-type bleeding disorder 17 mondo_mondo_0008553_medgen_c1861194_omim_187900_orphanet_721 MONDO:MONDO:0008553,MedGen:C1861194,OMIM:187900,Orphanet:721 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Congenital heart defects, multiple types, 6 mondo_mondo_0013463_medgen_c3151221_omim_613854_orphanet_860 MONDO:MONDO:0013463,MedGen:C3151221,OMIM:613854,Orphanet:860 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCSH Multiple mitochondrial dysfunctions syndrome 7 mondo_mondo_0957382_medgen_c5830586_omim_620423 MONDO:MONDO:0957382,MedGen:C5830586,OMIM:620423 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCNT2 Cataract 13 with adult I phenotype mondo_mondo_0007289_medgen_c3805373_omim_116700_orphanet_91492 MONDO:MONDO:0007289,MedGen:C3805373,OMIM:116700,Orphanet:91492 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCM2 Hyperparathyroidism 4 mondo_mondo_0024570_medgen_c4479229_omim_617343 MONDO:MONDO:0024570,MedGen:C4479229,OMIM:617343 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNT2 Congenital disorder of glycosylation, type iit mondo_mondo_0030043_medgen_c5394387_omim_618885 MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALE condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD5 Microphthalmia/coloboma 11 mondo_mondo_0958239_medgen_c5935584_omim_620731 MONDO:MONDO:0958239,MedGen:C5935584,OMIM:620731 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FYCO1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHR Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRYL Pan-Chung-Bellen syndrome mondo_mondo_0975953_medgen_c5975547_omim_621049 MONDO:MONDO:0975953,MedGen:C5975547,OMIM:621049 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II medgen_c2931136 MedGen:C2931136 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Atelosteogenesis type I mondo_mondo_0007167_medgen_c0265283_omim_108720_orphanet_1190 MONDO:MONDO:0007167,MedGen:C0265283,OMIM:108720,Orphanet:1190 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked mondo_mondo_0010232_medgen_c2746068_omim_300048_orphanet_2301 MONDO:MONDO:0010232,MedGen:C2746068,OMIM:300048,Orphanet:2301 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLI1 Bleeding disorder, platelet-type, 21 mondo_mondo_0054577_medgen_c4479515_omim_617443 MONDO:MONDO:0054577,MedGen:C4479515,OMIM:617443 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FITM2 Siddiqi syndrome mondo_mondo_0032842_medgen_c5231435_omim_618635 MONDO:MONDO:0032842,MedGen:C5231435,OMIM:618635 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Neoplasm of stomach human_phenotype_ontology_hp_0006753_mondo_mondo_0021085_medgen_c0038356 Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF8 Holoprosencephaly sequence human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF10 Lacrimoauriculodentodigital syndrome 3 mondo_mondo_0859578_medgen_c5774287_omim_620193 MONDO:MONDO:0859578,MedGen:C5774287,OMIM:620193 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGB Congenital afibrinogenemia mondo_mondo_0008737_medgen_c2584774_omim_202400_orphanet_335_orphanet_98880 MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDXR Multiple mitochondrial dysfunctions syndrome 9b mondo_mondo_0971174_medgen_c5935635_omim_620887 MONDO:MONDO:0971174,MedGen:C5935635,OMIM:620887 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO7 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Neonatal Marfan syndrome mondo_mondo_0017309_medgen_c4016054_orphanet_284979 MONDO:MONDO:0017309,MedGen:C4016054,Orphanet:284979 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSB Rajab interstitial lung disease with brain calcifications mondo_mondo_0100214_medgen_c3150910_omim_ps613658_orphanet_178506 MONDO:MONDO:0100214,MedGen:C3150910,OMIM:PS613658,Orphanet:178506 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC EVC-related disorder evc_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESAM Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity mondo_mondo_0957267_medgen_c5830509_omim_620371 MONDO:MONDO:0957267,MedGen:C5830509,OMIM:620371 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERI1 Spondyloepimetaphyseal dysplasia, Guo-Campeau type mondo_mondo_0958006_medgen_c5882737_omim_620663 MONDO:MONDO:0958006,MedGen:C5882737,OMIM:620663 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Noonan Syndrome-like developmental disorder noonan_syndrome_like_developmental_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPRS1 Leukodystrophy, hypomyelinating, 15 mondo_mondo_0054782_medgen_c4693733_omim_617951 MONDO:MONDO:0054782,MedGen:C4693733,OMIM:617951 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EML1 Band heterotopia of brain mondo_mondo_0010873_medgen_c4284594_omim_600348 MONDO:MONDO:0010873,MedGen:C4284594,OMIM:600348 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELMO2 Primary intraosseous venous malformation mondo_mondo_0011744_medgen_c1847197_omim_606893_orphanet_140436 MONDO:MONDO:0011744,MedGen:C1847197,OMIM:606893,Orphanet:140436 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELANE ELANE-related disorder elane_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF5A Faundes-Banka syndrome mondo_mondo_0859163_medgen_c5543554_omim_619376 MONDO:MONDO:0859163,MedGen:C5543554,OMIM:619376 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT2 Kleefstra-like syndrome kleefstra_like_syndrome . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1A2 EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy eef1a2_related_developmental_and_degenerative_epileptic_dyskinetic_encephalopathy . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECM1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DZIP1L Polycystic kidney disease 5 mondo_mondo_0033281_medgen_c4539903_omim_617610 MONDO:MONDO:0033281,MedGen:C4539903,OMIM:617610 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DROSHA Pineoblastoma human_phenotype_ontology_hp_0030408_human_phenotype_ontology_hp_0040193_mondo_mondo_0016722_medgen_c0205898_orphanet_251909 Human_Phenotype_Ontology:HP:0030408,Human_Phenotype_Ontology:HP:0040193,MONDO:MONDO:0016722,MedGen:C0205898,Orphanet:251909 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOP1A Immunodeficiency 23 mondo_mondo_0014353_medgen_c4014371_omim_615816_orphanet_443811 MONDO:MONDO:0014353,MedGen:C4014371,OMIM:615816,Orphanet:443811 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK7 Familial hypobetalipoproteinemia 2 mondo_mondo_0011505_medgen_c1857970_omim_605019 MONDO:MONDO:0011505,MedGen:C1857970,OMIM:605019 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK11 DOCK11 deficiency dock11_deficiency . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L Optic atrophy 5 mondo_mondo_0012543_medgen_c1853139_omim_610708_orphanet_98673 MONDO:MONDO:0012543,MedGen:C1853139,OMIM:610708,Orphanet:98673 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH2 Spermatogenic failure 45 mondo_mondo_0033671_medgen_c5436791_omim_619094 MONDO:MONDO:0033671,MedGen:C5436791,OMIM:619094 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF4 Dyslexia, susceptibility to, 1 mondo_mondo_0007487_medgen_c1851967_omim_127700 MONDO:MONDO:0007487,MedGen:C1851967,OMIM:127700 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMXL2 Developmental and epileptic encephalopathy, 81 mondo_mondo_0032858_medgen_c5231450_omim_618663 MONDO:MONDO:0032858,MedGen:C5231450,OMIM:618663 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX3 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism mondo_mondo_0007093_medgen_c1863012_omim_104510_orphanet_100034_orphanet_88661 MONDO:MONDO:0007093,MedGen:C1863012,OMIM:104510,Orphanet:100034,Orphanet:88661 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGUOK DGUOK-related disorder dguok_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE Mesangiocapillary glomerulonephritis human_phenotype_ontology_hp_0000793_mondo_mondo_0002461_medgen_c0017662 Human_Phenotype_Ontology:HP:0000793,MONDO:MONDO:0002461,MedGen:C0017662 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN1 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC2 DCDC2-related disorder dcdc2_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF6 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAG1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 CYP17A1-related disorder cyp17a1_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYFIP2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBB Granulomatous disease, chronic, X-linked, variant granulomatous_disease_chronic_x_linked_variant MedGen:CN043100 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB5R3 METHEMOGLOBINEMIA, TYPE I medgen_c2749559 MedGen:C2749559 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 CUL3-related disorder cul3_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSF Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNND2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNND1 Cleft lip with or without cleft palate medgen_c0810364_orphanet_1991 MedGen:C0810364,Orphanet:1991 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGD condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAB Dilated cardiomyopathy 1II mondo_mondo_0014073_medgen_c3554649_omim_615184_orphanet_154 MONDO:MONDO:0014073,MedGen:C3554649,OMIM:615184,Orphanet:154 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRTAP condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRIPT Rothmund-Thomson syndrome type 3 mondo_mondo_0014347_medgen_c4014339_omim_615789 MONDO:MONDO:0014347,MedGen:C4014339,OMIM:615789 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 CPT2-related disorder cpt2_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPOX Hereditary coproporphyria mondo_mondo_0007369_medgen_c0162531_omim_121300_orphanet_79273 MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CP CP-related disorder cp_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB2 Osteoporosis, childhood- or juvenile-onset, with developmental delay mondo_mondo_0859253_medgen_c5676992_omim_619884 MONDO:MONDO:0859253,MedGen:C5676992,OMIM:619884 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPA Autoimmune interstitial lung disease-arthritis syndrome mondo_mondo_0014629_medgen_c5975714_omim_ps616414_orphanet_444092 MONDO:MONDO:0014629,MedGen:C5975714,OMIM:PS616414,Orphanet:444092 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa simplex 1A, generalized severe mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa dystrophica inversa, autosomal recessive medgen_c2673612 MedGen:C2673612 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Ullrich congenital muscular dystrophy 1C mondo_mondo_0958236_medgen_c5935583_omim_620728 MONDO:MONDO:0958236,MedGen:C5935583,OMIM:620728 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 COL6A3-related disorder col6a3_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Myosclerosis mondo_mondo_0009714_medgen_c1850671_omim_255600_orphanet_289380 MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Collagen 6-related myopathy mondo_mondo_0100225_medgen_cn117976 MONDO:MONDO:0100225,MedGen:CN117976 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL25A1 Fibrosis of extraocular muscles, congenital, 5 mondo_mondo_0014538_medgen_c4015552_omim_616219_orphanet_233_orphanet_91411 MONDO:MONDO:0014538,MedGen:C4015552,OMIM:616219,Orphanet:233,Orphanet:91411 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Stickler syndrome mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG8 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH Hearing loss, autosomal recessive 110 mondo_mondo_0054860_medgen_c4748162_omim_618094 MONDO:MONDO:0054860,MedGen:C4748162,OMIM:618094 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COA8 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP2 Autism, susceptibility to, 15 mondo_mondo_0012801_medgen_c2677504_omim_612100 MONDO:MONDO:0012801,MedGen:C2677504,OMIM:612100 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 condition not provided condition_not_provided .|MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN10 HELIX syndrome mondo_mondo_0060564_medgen_c4522164_omim_617671_orphanet_528105 MONDO:MONDO:0060564,MedGen:C4522164,OMIM:617671,Orphanet:528105 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Bartter syndrome mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 CLCN5-related disorder clcn5_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIITA Rheumatoid arthritis human_phenotype_ontology_hp_0001370_mondo_mondo_0008383_medgen_c0003873_omim_180300 Human_Phenotype_Ontology:HP:0001370,MONDO:MONDO:0008383,MedGen:C0003873,OMIM:180300 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC CIC-related disorder cic_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Hereditary nonpolyposis colon cancer mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Breast cancer, susceptibility to medgen_c3469522 MedGen:C3469522 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 CHD2-related disorder chd2_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Obstructive azoospermia human_phenotype_ontology_hp_0011962_medgen_c4023106 Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP61 Spermatogenic failure 84 mondo_mondo_0957301_medgen_c5830562_omim_620409 MONDO:MONDO:0957301,MedGen:C5830562,OMIM:620409 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CETP Hyperalphalipoproteinemia 1 medgen_c3149462_omim_143470 MedGen:C3149462,OMIM:143470 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERT1 Intellectual disability, autosomal dominant 34 mondo_mondo_0014599_medgen_c4225156_omim_616351 MONDO:MONDO:0014599,MedGen:C4225156,OMIM:616351 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Congenital heart defects, multiple types, 6 mondo_mondo_0013463_medgen_c3151221_omim_613854_orphanet_860 MONDO:MONDO:0013463,MedGen:C3151221,OMIM:613854,Orphanet:860 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP63 Seckel syndrome 6 mondo_mondo_0013871_medgen_c3553582_omim_614728 MONDO:MONDO:0013871,MedGen:C3553582,OMIM:614728 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP63 Myofibrillar myopathy 7 mondo_mondo_0014922_medgen_c4310711_omim_617114 MONDO:MONDO:0014922,MedGen:C4310711,OMIM:617114 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP55 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome mondo_mondo_0009359_medgen_c1856053_omim_236500_orphanet_500135 MONDO:MONDO:0009359,MedGen:C1856053,OMIM:236500,Orphanet:500135 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP120 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 condition not provided condition_not_provided .|MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1B condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH11 Teebi hypertelorism syndrome 2 mondo_mondo_0030674_medgen_c5676911_omim_619736 MONDO:MONDO:0030674,MedGen:C5676911,OMIM:619736 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD79A Agammaglobulinemia 3, autosomal recessive mondo_mondo_0013288_medgen_c3150751_omim_613501 MONDO:MONDO:0013288,MedGen:C3150751,OMIM:613501 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC47 Trichohepatoneurodevelopmental syndrome mondo_mondo_0032645_medgen_c4748898_omim_618268 MONDO:MONDO:0032645,MedGen:C4748898,OMIM:618268 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCBE1 Hennekam lymphangiectasia-lymphedema syndrome 1 mondo_mondo_0009337_medgen_c4012050_omim_235510_orphanet_2136 MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAST Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome mondo_mondo_0014574_medgen_c4225381_omim_616295_orphanet_444138 MONDO:MONDO:0014574,MedGen:C4225381,OMIM:616295,Orphanet:444138 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARS1 Microcephaly, developmental delay, and brittle hair syndrome mondo_mondo_0030047_medgen_c5394425_omim_618891 MONDO:MONDO:0030047,MedGen:C5394425,OMIM:618891 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 Pityriasis rubra pilaris mondo_mondo_0100017_medgen_c0032027_omim_173200_orphanet_2897 MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD11 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2D Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1E Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C CACNA1C-related disorder cacna1c_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Brugada syndrome 3 mondo_mondo_0012742_medgen_c2678478_omim_611875_orphanet_130 MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1ORF105 Glycosylphosphatidylinositol biosynthesis defect 16 mondo_mondo_0040500_medgen_c4540521_omim_617816 MONDO:MONDO:0040500,MedGen:C4540521,OMIM:617816 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPNT2 Chondrodysplasia with joint dislocations, gPAPP type mondo_mondo_0013561_medgen_c3279757_omim_614078_orphanet_280586 MONDO:MONDO:0013561,MedGen:C3279757,OMIM:614078,Orphanet:280586 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BOLA3 Multiple mitochondrial dysfunctions syndrome 2 mondo_mondo_0013675_medgen_c3280378_omim_614299_orphanet_401874 MONDO:MONDO:0013675,MedGen:C3280378,OMIM:614299,Orphanet:401874 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1B Type A2 brachydactyly human_phenotype_ontology_hp_0009372_mondo_mondo_0007216_medgen_c1832702_omim_112600_orphanet_93396 Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP2 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies mondo_mondo_0031439_medgen_cn294045_omim_ps617877 MONDO:MONDO:0031439,MedGen:CN294045,OMIM:PS617877 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP15 Ovarian dysgenesis 2 mondo_mondo_0010349_medgen_c1845294_omim_300510_orphanet_243 MONDO:MONDO:0010349,MedGen:C1845294,OMIM:300510,Orphanet:243 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BIRC3 Regional enteritis mesh_d003424_medgen_c0678202 MeSH:D003424,MedGen:C0678202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BIN1 Myopathy, centronuclear, 2 mondo_mondo_0009709_medgen_c0410204_omim_255200_orphanet_169186 MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200,Orphanet:169186 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR BCOR-related disorder bcor_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 Melanoma, uveal, susceptibility to, 2 mondo_mondo_0011696_medgen_c1847723_omim_606661_orphanet_39044 MONDO:MONDO:0011696,MedGen:C1847723,OMIM:606661,Orphanet:39044 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVPR2 AVPR2-related disorder avpr2_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Intellectual disability-hypotonic facies syndrome, X-linked intellectual_disability_hypotonic_facies_syndrome_x_linked . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1A condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A1 Hypomagnesemia, seizures, and intellectual disability 2 mondo_mondo_0020788_medgen_c5193023_omim_618314 MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATAD3A Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal mondo_mondo_0032931_medgen_c5394137_omim_618810_orphanet_615954 MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Microcephaly 1, primary, autosomal recessive mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Developmental and epileptic encephalopathy 116 mondo_mondo_0970945_medgen_c5935615_omim_620806 MONDO:MONDO:0970945,MedGen:C5935615,OMIM:620806 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPH condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Partington syndrome mondo_mondo_0010654_medgen_c0796250_omim_309510_orphanet_94083 MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510,Orphanet:94083 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Metachromatic leukodystrophy, adult type mondo_mondo_0017730_medgen_c0751279_orphanet_309271 MONDO:MONDO:0017730,MedGen:C0751279,Orphanet:309271 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC9 ARMC9-related Joubert syndrome armc9_related_joubert_syndrome . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6IP1 Hereditary spastic paraplegia 61 mondo_mondo_0014304_medgen_c3810294_omim_615685_orphanet_401780 MONDO:MONDO:0014304,MedGen:C3810294,OMIM:615685,Orphanet:401780 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 ARL6-related disorder arl6_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL2BP Retinitis pigmentosa with or without situs inversus mondo_mondo_0014186_medgen_c4747737_omim_615434_orphanet_791 MONDO:MONDO:0014186,MedGen:C4747737,OMIM:615434,Orphanet:791 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A ARID1A-related BAFopathy arid1a_related_bafopathy . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP Cerebral amyloid angiopathy, APP-related mondo_mondo_0011583_medgen_c2751536_omim_605714_orphanet_100006_orphanet_324703_orphanet_324708_orphanet_324713_orphanet_324718_orphanet_324723_orphanet_85458 MONDO:MONDO:0011583,MedGen:C2751536,OMIM:605714,Orphanet:100006,Orphanet:324703,Orphanet:324708,Orphanet:324713,Orphanet:324718,Orphanet:324723,Orphanet:85458 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC2 condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S1 MEDNIK syndrome mondo_mondo_0012251_medgen_c1836330_omim_609313_orphanet_171851 MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313,Orphanet:171851 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANGPTL3 Familial hypobetalipoproteinemia 2 mondo_mondo_0011505_medgen_c1857970_omim_605019 MONDO:MONDO:0011505,MedGen:C1857970,OMIM:605019 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANG Amyotrophic lateral sclerosis type 9 mondo_mondo_0012753_medgen_c2678468_omim_611895_orphanet_803 MONDO:MONDO:0012753,MedGen:C2678468,OMIM:611895,Orphanet:803 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK3 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG8 Familial cystic renal disease mondo_mondo_0019741_medgen_c5680285_orphanet_93587 MONDO:MONDO:0019741,MedGen:C5680285,Orphanet:93587 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG8 Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG2 ALG2-congenital disorder of glycosylation mondo_mondo_0011933_medgen_c1842836_omim_607906_orphanet_79326 MONDO:MONDO:0011933,MedGen:C1842836,OMIM:607906,Orphanet:79326 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Severe X-linked mitochondrial encephalomyopathy mondo_mondo_0010437_medgen_c3151753_omim_300816_orphanet_238329 MONDO:MONDO:0010437,MedGen:C3151753,OMIM:300816,Orphanet:238329 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGT condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGT Renal tubular dysgenesis of genetic origin mondo_mondo_0009970_medgen_c5681536_omim_267430_orphanet_97369 MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Optic atrophy 12 mondo_mondo_0033549_medgen_c5436534_omim_618977 MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF4 Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome mondo_mondo_0014609_medgen_c4085597_omim_616368_orphanet_444077 MONDO:MONDO:0014609,MedGen:C4085597,OMIM:616368,Orphanet:444077 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF2 FRAXE mondo_mondo_0010659_medgen_c0751157_omim_309548_orphanet_100973 MONDO:MONDO:0010659,MedGen:C0751157,OMIM:309548,Orphanet:100973 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG6 Lethal congenital contracture syndrome 9 mondo_mondo_0014670_medgen_c4225303_omim_616503 MONDO:MONDO:0014670,MedGen:C4225303,OMIM:616503 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS13 ADAMTS13-related disorder adamts13_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM22 Developmental and epileptic encephalopathy, 61 mondo_mondo_0033370_medgen_c4693688_omim_617933 MONDO:MONDO:0033370,MedGen:C4693688,OMIM:617933 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B Intellectual developmental disorder with severe speech and ambulation defects mondo_mondo_0032770_medgen_c5193115_omim_618470 MONDO:MONDO:0032770,MedGen:C5193115,OMIM:618470 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB ACTB-related disorder actb_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Multisystemic smooth muscle dysfunction syndrome mondo_mondo_0013452_medgen_c3151201_omim_613834_orphanet_404463 MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSM3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACO2 Optic atrophy 9 mondo_mondo_0014571_medgen_c4225384_omim_616289 MONDO:MONDO:0014571,MedGen:C4225384,OMIM:616289 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG8 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG8 ABCG8-related disorder abcg8_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB7 X-linked sideroblastic anemia with ataxia mondo_mondo_0010524_medgen_c1845028_omim_301310_orphanet_2802 MONDO:MONDO:0010524,MedGen:C1845028,OMIM:301310,Orphanet:2802 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Progressive familial intrahepatic cholestasis mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA7 ABCA7-related disorder abca7_related_disorder . 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence AASS condition not provided condition_not_provided MedGen:C3661900 7 7 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF469 Keratoconus 1 mondo_mondo_0007851_medgen_c1835677_omim_148300 MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF454 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF454 Congenital stationary night blindness 1B mondo_mondo_0009758_medgen_c1850362_omim_257270_orphanet_215 MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF408 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF276 FANCA-related disorder fanca_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFPM2 Diaphragmatic hernia 3 mondo_mondo_0012431_medgen_c1857781_omim_610187_orphanet_2140 MONDO:MONDO:0012431,MedGen:C1857781,OMIM:610187,Orphanet:2140 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 Corneal dystrophy, Fuchs endothelial, 6 mondo_mondo_0013206_medgen_c2750448_omim_613270_orphanet_98974 MONDO:MONDO:0013206,MedGen:C2750448,OMIM:613270,Orphanet:98974 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZC4H2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB24 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT1 OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO medgen_c3714945_omim_615221_orphanet_85193 MedGen:C3714945,OMIM:615221,Orphanet:85193 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WIPF1 Wiskott-Aldrich syndrome 2 mondo_mondo_0013779_medgen_c3281001_omim_614493_orphanet_906 MONDO:MONDO:0013779,MedGen:C3281001,OMIM:614493,Orphanet:906 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 WFS1-Related Spectrum Disorders wfs1_related_spectrum_disorders . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR74 RNU2-2 related neurodevelopmental disorder rnu2_2_related_neurodevelopmental_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR26 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Abnormality of coagulation human_phenotype_ontology_hp_0001928_medgen_c1846821 Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWA1 Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP1 Myasthenic syndrome, congenital, 25, presynaptic mondo_mondo_0032675_medgen_c5193027_omim_618323 MONDO:MONDO:0032675,MedGen:C5193027,OMIM:618323 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC80 UNC80-related disorder unc80_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMOD Autosomal dominant medullary cystic kidney disease with or without hyperuricemia mondo_mondo_0008264_medgen_c4511620_orphanet_34149 MONDO:MONDO:0008264,MedGen:C4511620,Orphanet:34149 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFC1 Neurodevelopmental disorder with spasticity and poor growth mondo_mondo_0060752_medgen_c4748081_omim_618076 MONDO:MONDO:0060752,MedGen:C4748081,OMIM:618076 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP2L condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA5 Spinocerebellar ataxia, autosomal recessive 24 mondo_mondo_0014934_medgen_c4310699_omim_617133 MONDO:MONDO:0014934,MedGen:C4310699,OMIM:617133 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence U2AF2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence U2AF2 Developmental delay, dysmorphic facies, and brain anomalies mondo_mondo_0957810_medgen_c5882698_omim_620535 MONDO:MONDO:0957810,MedGen:C5882698,OMIM:620535 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Albinism human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYK2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TXNDC15 Meckel syndrome 14 mondo_mondo_0030819_medgen_c5676989_omim_619879 MONDO:MONDO:0030819,MedGen:C5676989,OMIM:619879 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Perrault syndrome 5 mondo_mondo_0014504_medgen_c4015307_omim_616138_orphanet_2855 MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138,Orphanet:2855 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUSC3 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB Multiple benign circumferential skin creases on limbs 1 mondo_mondo_0020738_medgen_c4551592_omim_156610 MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA4A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA4A Oocyte/zygote/embryo maturation arrest 23 mondo_mondo_0979231_medgen_c6012734_omim_621231 MONDO:MONDO:0979231,MedGen:C6012734,OMIM:621231 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Tubulinopathy-associated dysgyria mondo_mondo_0018763_medgen_c5568850_orphanet_467166 MONDO:MONDO:0018763,MedGen:C5568850,Orphanet:467166 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Dilated cardiomyopathy 1S mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTI2 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome mondo_mondo_0014238_medgen_c3809853_omim_615541_orphanet_391307 MONDO:MONDO:0014238,MedGen:C3809853,OMIM:615541,Orphanet:391307 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTI1 Neurodevelopmental disorder with microcephaly and movement abnormalities mondo_mondo_0957531_medgen_c5830624_omim_620445 MONDO:MONDO:0957531,MedGen:C5830624,OMIM:620445 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21A Spermatogenic failure 37 mondo_mondo_0032744_medgen_c5193091_omim_618429 MONDO:MONDO:0032744,MedGen:C5193091,OMIM:618429 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTBK2 Spinocerebellar ataxia type 11 mondo_mondo_0011464_medgen_c1858351_omim_604432_orphanet_98767 MONDO:MONDO:0011464,MedGen:C1858351,OMIM:604432,Orphanet:98767 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR Autosomal recessive nonsyndromic hearing loss 98 mondo_mondo_0013929_medgen_c3553932_omim_614861_orphanet_90636 MONDO:MONDO:0013929,MedGen:C3553932,OMIM:614861,Orphanet:90636 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Olivopontocerebellar hypoplasia human_phenotype_ontology_hp_0006955_human_phenotype_ontology_hp_0007168_medgen_c1859341 Human_Phenotype_Ontology:HP:0006955,Human_Phenotype_Ontology:HP:0007168,MedGen:C1859341 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN2 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 TRPV4-related disorder trpv4_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Spondyloepimetaphyseal dysplasia, Maroteaux type mondo_mondo_0008473_medgen_c3159322_omim_184095_orphanet_263482 MONDO:MONDO:0008473,MedGen:C3159322,OMIM:184095,Orphanet:263482 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Scapuloperoneal spinal muscular atrophy mondo_mondo_0008408_medgen_c0751335_omim_181405_orphanet_431255 MONDO:MONDO:0008408,MedGen:C0751335,OMIM:181405,Orphanet:431255 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 TRNT1-related disorder trnt1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM8 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2L Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis mondo_mondo_0032681_medgen_c5193033_omim_618331 MONDO:MONDO:0032681,MedGen:C5193033,OMIM:618331 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3IP1 Senior-Loken syndrome 9 mondo_mondo_0014712_medgen_c4225263_omim_616629_orphanet_3156 MONDO:MONDO:0014712,MedGen:C4225263,OMIM:616629,Orphanet:3156 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPR Camptodactyly-arthropathy-coxa vara-pericarditis syndrome mondo_mondo_0008828_medgen_c1859690_omim_208250_orphanet_2848 MONDO:MONDO:0008828,MedGen:C1859690,OMIM:208250,Orphanet:2848 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Orofacial cleft 8 mondo_mondo_0029145_medgen_c1851878_omim_618149 MONDO:MONDO:0029145,MedGen:C1851878,OMIM:618149 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Gallbladder cancer mondo_mondo_0005411_medgen_c0153452 MONDO:MONDO:0005411,MedGen:C0153452 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOPORS Retinitis pigmentosa 31 mondo_mondo_0012367_medgen_c1835923_omim_609923_orphanet_791 MONDO:MONDO:0012367,MedGen:C1835923,OMIM:609923,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2 mondo_mondo_0020628_medgen_c4748176_omim_618097 MONDO:MONDO:0020628,MedGen:C4748176,OMIM:618097 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TONSL TONSL-related disorder tonsl_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOE1 Familial adenomatous polyposis 2 mondo_mondo_0012041_medgen_c3272841_omim_608456_orphanet_220460_orphanet_247798 MONDO:MONDO:0012041,MedGen:C3272841,OMIM:608456,Orphanet:220460,Orphanet:247798 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNPO3 Autosomal dominant limb-girdle muscular dystrophy type 1F mondo_mondo_0012034_medgen_c1842062_omim_608423_orphanet_55595 MONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423,Orphanet:55595 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Restrictive cardiomyopathy human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF11B Hyperphosphatasemia with bone disease mondo_mondo_0009394_medgen_c0268414_omim_239000_orphanet_2801 MONDO:MONDO:0009394,MedGen:C0268414,OMIM:239000,Orphanet:2801 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS6 Microcytic anemia human_phenotype_ontology_hp_0001935_mondo_mondo_0001245_medgen_c5194182 Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPPE Infantile GM1 gangliosidosis mondo_mondo_0009260_medgen_c0268271_omim_230500_orphanet_354_orphanet_79255 MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPPE GM1 gangliosidosis mondo_mondo_0018149_medgen_c0085131_orphanet_354 MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM38B condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Deafness medgen_c0011053 MedGen:C0011053 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMMDC1 Mitochondrial complex I deficiency, nuclear type 31 mondo_mondo_0032634_medgen_c4748838_omim_618251 MONDO:MONDO:0032634,MedGen:C4748838,OMIM:618251 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM50 3-methylglutaconic aciduria type 9 mondo_mondo_0044724_medgen_c4540171_omim_617698_orphanet_505216 MONDO:MONDO:0044724,MedGen:C4540171,OMIM:617698,Orphanet:505216 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIGD1 Lethal multiple pterygium syndrome mondo_mondo_0009668_medgen_c1854678_omim_253290_orphanet_33108 MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIGD1 Autosomal recessive multiple pterygium syndrome mondo_mondo_0009926_medgen_c0265261_omim_265000_orphanet_2990 MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Hyperthyroidism human_phenotype_ontology_hp_0000836_human_phenotype_ontology_hp_0008241_mondo_mondo_0004425_medgen_c0020550 Human_Phenotype_Ontology:HP:0000836,Human_Phenotype_Ontology:HP:0008241,MONDO:MONDO:0004425,MedGen:C0020550 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Malignant tumor of esophagus mondo_mondo_0007576_medgen_c0546837_omim_133239_orphanet_99977 MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Reis-Bucklers' corneal dystrophy mondo_mondo_0012043_medgen_c0339278_omim_608470_orphanet_98961 MONDO:MONDO:0012043,MedGen:C0339278,OMIM:608470,Orphanet:98961 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Loeys-Dietz syndrome mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB1 Diaphyseal dysplasia human_phenotype_ontology_hp_0100252_mondo_mondo_0007542_medgen_c0011989_omim_ps131300_orphanet_1328 Human_Phenotype_Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:PS131300,Orphanet:1328 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFE3 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX9 Heterotaxy, visceral, 9, autosomal, with male infertility mondo_mondo_0030070_medgen_c5394551_omim_618948 MONDO:MONDO:0030070,MedGen:C5394551,OMIM:618948 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX14 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX11 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET3 TET3 deficiency tet3_deficiency . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 TCIRG1-related disorder tcirg1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF7L2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 TCF4-related disorder tcf4_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCAP condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 TBX5-related disorder tbx5_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX20 Atrial septal defect 4 mondo_mondo_0012654_medgen_c1969657_omim_611363_orphanet_1478 MONDO:MONDO:0012654,MedGen:C1969657,OMIM:611363,Orphanet:1478 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCE TBCE-related disorder tbce_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPBPL Myasthenic syndrome, congenital, 25, presynaptic mondo_mondo_0032675_medgen_c5193027_omim_618323 MONDO:MONDO:0032675,MedGen:C5193027,OMIM:618323 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 TAB2-related disorder tab2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT2 Congenital myasthenic syndrome 7 mondo_mondo_0014468_medgen_c4015038_omim_616040_orphanet_590 MONDO:MONDO:0014468,MedGen:C4015038,OMIM:616040,Orphanet:590 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUPT16H Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum mondo_mondo_0859179_medgen_c5551361_omim_619480 MONDO:MONDO:0859179,MedGen:C5551361,OMIM:619480 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUOX SUOX-related disorder suox_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 Mitochondrial complex IV deficiency, nuclear type 12 mondo_mondo_0033646_medgen_c5436695_omim_619055 MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT6 Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections mondo_mondo_0957807_medgen_c5848786_omim_620532 MONDO:MONDO:0957807,MedGen:C5848786,OMIM:620532 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT1 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG2 STAG2-related disorder stag2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRP54 Neutropenia, severe congenital, 8, autosomal dominant mondo_mondo_0032899_medgen_c5203411_omim_618752_orphanet_675767 MONDO:MONDO:0032899,MedGen:C5203411,OMIM:618752,Orphanet:675767 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Kahrizi syndrome mondo_mondo_0012991_medgen_c2675185_omim_612713 MONDO:MONDO:0012991,MedGen:C2675185,OMIM:612713 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Developmental delay with or without epilepsy mondo_mondo_0957815_medgen_c5882702_omim_620540 MONDO:MONDO:0957815,MedGen:C5882702,OMIM:620540 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOUT1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPI1 PU.1-mutated agammaglobulinemia pu_1_mutated_agammaglobulinemia . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Waardenburg syndrome type 1 mondo_mondo_0008670_medgen_c1847800_omim_193500_orphanet_894 MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORD condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOCS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX10 Autosomal recessive osteopetrosis 8 mondo_mondo_0014040_medgen_c3554478_omim_615085_orphanet_667 MONDO:MONDO:0014040,MedGen:C3554478,OMIM:615085,Orphanet:667 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPB Cerebro-costo-mandibular syndrome mondo_mondo_0007301_medgen_c0265342_omim_117650_orphanet_1393 MONDO:MONDO:0007301,MedGen:C0265342,OMIM:117650,Orphanet:1393 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRNP200 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNF8 SNF8-associated disease snf8_associated_disease . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPX condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCE1 Coffin-Siris syndrome 5 mondo_mondo_0014838_medgen_c4310788_omim_616938_orphanet_1465 MONDO:MONDO:0014838,MedGen:C4310788,OMIM:616938,Orphanet:1465 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC1 Congenital hydrocephalus mondo_mondo_0016349_medgen_c0020256_omim_ps236600_orphanet_2185 MONDO:MONDO:0016349,MedGen:C0020256,OMIM:PS236600,Orphanet:2185 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 SMARCA4-related disorder smarca4_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 SMAD4-related disorder smad4_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Loeys-Dietz syndrome mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLF2 Atelis syndrome 1 mondo_mondo_0859575_medgen_c5774281_omim_620184 MONDO:MONDO:0859575,MedGen:C5774281,OMIM:620184 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO1B3 Rotor syndrome mondo_mondo_0009379_medgen_c0220991_omim_237450_orphanet_3111 MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A9 SLC7A9-related disorder slc7a9_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A9 Cystine urolithiasis medgen_c3671878 MedGen:C3671878 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A7 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A3 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A9 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome mondo_mondo_0044726_medgen_c4539828_omim_617595_orphanet_505242 MONDO:MONDO:0044726,MedGen:C4539828,OMIM:617595,Orphanet:505242 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A2 SLC2A2-related disorder slc2a2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 SLC26A2-related disorder slc26a2_related_disorder MedGen:CN239404 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 mondo_mondo_0012238_medgen_c1836460_omim_609283 MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A26 Combined oxidative phosphorylation deficiency 28 mondo_mondo_0014775_medgen_c5569081_omim_616794_orphanet_466784 MONDO:MONDO:0014775,MedGen:C5569081,OMIM:616794,Orphanet:466784 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A1 Exercise-induced hyperinsulinism mondo_mondo_0012396_medgen_c1864902_omim_610021_orphanet_165991 MONDO:MONDO:0012396,MedGen:C1864902,OMIM:610021,Orphanet:165991 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 condition not provided condition_not_provided .|MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC10A7 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis mondo_mondo_0032703_medgen_c5193055_omim_618363 MONDO:MONDO:0032703,MedGen:C5193055,OMIM:618363 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC10A1 SLC10A1-related disorder slc10a1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC2 SKIC2-related disorder skic2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIK1 Developmental and epileptic encephalopathy, 30 mondo_mondo_0014595_medgen_c4225360_omim_616341 MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH SHH-related disorder shh_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Sanfilippo syndrome mondo_mondo_0018937_medgen_c0026706_orphanet_581 MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Mucopolysaccharidosis mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCD condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFXN4 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPB Hereditary pulmonary alveolar proteinosis mondo_mondo_0012580_medgen_c3711368_omim_ps265120_orphanet_264675 MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 SETD2-related disorder setd2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A Schizophrenia human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINI1 Familial encephalopathy with neuroserpin inclusion bodies mondo_mondo_0011412_medgen_c1858680_omim_604218_orphanet_85110 MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218,Orphanet:85110 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINB7 Palmoplantar keratoderma, Nagashima type mondo_mondo_0014272_medgen_c3810072_omim_615598_orphanet_140966 MONDO:MONDO:0014272,MedGen:C3810072,OMIM:615598,Orphanet:140966 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC23B SEC23B-related disorder sec23b_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCP2 Sterol carrier protein 2 deficiency mondo_mondo_0013391_medgen_c3150990_omim_613724_orphanet_163684 MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724,Orphanet:163684 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1G condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Developmental and epileptic encephalopathy, 6A mondo_mondo_0100079_medgen_cn293401 MONDO:MONDO:0100079,MedGen:CN293401 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASS6 Microcephaly 14, primary, autosomal recessive mondo_mondo_0014623_medgen_c4225338_omim_616402_orphanet_2512 MONDO:MONDO:0014623,MedGen:C4225338,OMIM:616402,Orphanet:2512 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9L Monosomy 7 myelodysplasia and leukemia syndrome 1 mondo_mondo_0009646_medgen_c1854978_omim_252270 MONDO:MONDO:0009646,MedGen:C1854978,OMIM:252270 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG Oguchi disease-1 mondo_mondo_0009775_medgen_c4551824_omim_258100 MONDO:MONDO:0009775,MedGen:C4551824,OMIM:258100 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX2 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome mondo_mondo_0007984_medgen_c3549874_omim_156510_orphanet_2504 MONDO:MONDO:0007984,MedGen:C3549874,OMIM:156510,Orphanet:2504 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN2 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPRY1 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome mondo_mondo_0014748_medgen_c5568882_omim_616723_orphanet_457395 MONDO:MONDO:0014748,MedGen:C5568882,OMIM:616723,Orphanet:457395 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAS2 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL15 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1L1 Occult macular dystrophy human_phenotype_ontology_hp_0030636_mondo_mondo_0013316_medgen_c3150833_omim_613587_orphanet_247834 Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 RP1-related disorder rp1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU2-2 RNU2-2 related neurodevelopmental disorder rnu2_2_related_neurodevelopmental_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B Aicardi Goutieres syndrome mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIM condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Retinitis punctata albescens mondo_mondo_0018877_medgen_c1405854_orphanet_52427 MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 RLBP1-related disorder rlbp1_related_disorder MedGen:CN239413 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK4 Bartsocas-Papas syndrome 1 mondo_mondo_0009901_medgen_c1849718_omim_263650_orphanet_1234 MONDO:MONDO:0009901,MedGen:C1849718,OMIM:263650,Orphanet:1234 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIMS2 Cone-rod synaptic disorder syndrome, congenital nonprogressive mondo_mondo_0033543_medgen_c5436505_omim_618970 MONDO:MONDO:0033543,MedGen:C5436505,OMIM:618970 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Pigmentary retinal dystrophy human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX7 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REN Renal tubular dysgenesis of genetic origin mondo_mondo_0009970_medgen_c5681536_omim_267430_orphanet_97369 MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REN Renal tubular dysgenesis human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCBTB1 RCBTB1-related retinopathy mondo_mondo_0014955_medgen_c4310680_omim_617175 MONDO:MONDO:0014955,MedGen:C4310680,OMIM:617175 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBPJ Adams-Oliver syndrome 3 mondo_mondo_0013895_medgen_c3553748_omim_614814_orphanet_974 MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 RB1-related disorder rb1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAX2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN RAPSN-related disorder rapsn_related_disorder MedGen:CN239397 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAP1B Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies mondo_mondo_0958000_medgen_c5882734_omim_620654 MONDO:MONDO:0958000,MedGen:C5882734,OMIM:620654 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Severe combined immunodeficiency, B cell-negative medgen_c1867362 MedGen:C1867362 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51 Fanconi anemia complementation group R mondo_mondo_0014986_medgen_c4284093_omim_617244 MONDO:MONDO:0014986,MedGen:C4284093,OMIM:617244 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP2 Martsolf syndrome 1 mondo_mondo_8000008_medgen_c5542298_omim_212720_orphanet_1387 MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720,Orphanet:1387 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB28 Cone-rod dystrophy 18 mondo_mondo_0014153_medgen_c3809299_omim_615374_orphanet_1872 MONDO:MONDO:0014153,MedGen:C3809299,OMIM:615374,Orphanet:1872 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS7 condition not provided condition_not_provided .|MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation mondo_mondo_0014512_medgen_cn924912_orphanet_438216 MONDO:MONDO:0014512,MedGen:CN924912,Orphanet:438216 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA PURA-related disorder pura_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRH2 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 mondo_mondo_8000012_medgen_c4015728_omim_616263_orphanet_456312 MONDO:MONDO:8000012,MedGen:C4015728,OMIM:616263,Orphanet:456312 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Monogenic short statue monogenic_short_statue . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTDSS1 Lenz-Majewski hyperostosis syndrome mondo_mondo_0007892_medgen_c0432269_omim_151050_orphanet_2658 MONDO:MONDO:0007892,MedGen:C0432269,OMIM:151050,Orphanet:2658 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSORS1C1 Peeling skin syndrome 1 mondo_mondo_0024548_medgen_c5679693_omim_270300_orphanet_263543_orphanet_263553 MONDO:MONDO:0024548,MedGen:C5679693,OMIM:270300,Orphanet:263543,Orphanet:263553 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 EBSTEIN-BEZIEAU NEURODEVELOPMENTAL SYNDROME ebstein_bezieau_neurodevelopmental_syndrome MedGen:CN381040,OMIM:621539 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Alzheimer disease human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAT1 PSAT1-related disorder psat1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAT1 PSAT deficiency mondo_mondo_0012596_medgen_c1970253_omim_610992_orphanet_284417 MONDO:MONDO:0012596,MedGen:C1970253,OMIM:610992,Orphanet:284417 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Dejerine-Sottas disease mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Adult-onset foveomacular vitelliform dystrophy mondo_mondo_0011979_medgen_c1842914_orphanet_99000 MONDO:MONDO:0011979,MedGen:C1842914,Orphanet:99000 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Combined oxidative phosphorylation deficiency 54 mondo_mondo_0030543_medgen_c5676912_omim_619737 MONDO:MONDO:0030543,MedGen:C5676912,OMIM:619737 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROKR2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia mondo_mondo_0012528_medgen_c3552343_omim_610628_orphanet_478 MONDO:MONDO:0012528,MedGen:C3552343,OMIM:610628,Orphanet:478 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC PROC-related disorder proc_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP Inherited Creutzfeldt-Jakob disease mondo_mondo_0007403_medgen_c0751254_omim_123400_orphanet_204_orphanet_282166_orphanet_454700 MONDO:MONDO:0007403,MedGen:C0751254,OMIM:123400,Orphanet:204,Orphanet:282166,Orphanet:454700 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKG2 Acromesomelic dysplasia 4 mondo_mondo_0030553_medgen_c5562028_omim_619636 MONDO:MONDO:0030553,MedGen:C5562028,OMIM:619636 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKACB Cardioacrofacial dysplasia 2 mondo_mondo_0030877_medgen_c5436886_omim_619143 MONDO:MONDO:0030877,MedGen:C5436886,OMIM:619143 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRCD Retinitis pigmentosa 36 mondo_mondo_0012523_medgen_c1864621_omim_610599_orphanet_791 MONDO:MONDO:0012523,MedGen:C1864621,OMIM:610599,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRCD Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R3C Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy mondo_mondo_0032738_medgen_c5193085_omim_618419 MONDO:MONDO:0032738,MedGen:C5193085,OMIM:618419 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R12A condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPIB Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU1F1 Combined pituitary hormone deficiencies, genetic form mondo_mondo_0013099_medgen_c4273747_omim_ps613038_orphanet_95494 MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038,Orphanet:95494 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POPDC3 Muscular dystrophy, limb-girdle, autosomal recessive 26 mondo_mondo_0030014_medgen_c5394268_omim_618848 MONDO:MONDO:0030014,MedGen:C5394268,OMIM:618848 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POP1 Anauxetic dysplasia 2 mondo_mondo_0054561_medgen_c4479357_omim_617396 MONDO:MONDO:0054561,MedGen:C4479357,OMIM:617396 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMC condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Waardenburg syndrome type 1 mondo_mondo_0008670_medgen_c1847800_omim_193500_orphanet_894 MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1A Acrofacial dysostosis Cincinnati type mondo_mondo_0014651_medgen_c4225317_omim_616462_orphanet_1200 MONDO:MONDO:0014651,MedGen:C4225317,OMIM:616462,Orphanet:1200 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 mondo_mondo_0024528_medgen_c1834846_omim_157640 MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Mitochondrial DNA depletion syndrome 4b mondo_mondo_0013350_medgen_c3150914_omim_613662_orphanet_298 MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLA1 X-linked intellectual disability, van Esch type mondo_mondo_0015601_medgen_c4305072_omim_301030_orphanet_163976 MONDO:MONDO:0015601,MedGen:C4305072,OMIM:301030,Orphanet:163976 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PODXL condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP2 Charcot-Marie-Tooth disease, demyelinating, type 1G mondo_mondo_0033135_medgen_c4748940_omim_618279_orphanet_476394 MONDO:MONDO:0033135,MedGen:C4748940,OMIM:618279,Orphanet:476394 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLVAP condition not provided condition_not_provided .|MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCG2 Familial cold autoinflammatory syndrome 3 mondo_mondo_0013766_medgen_c3280914_omim_614468_orphanet_300359 MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAG1 Silver-russell syndrome 4 mondo_mondo_0030118_medgen_c5394450_omim_618907 MONDO:MONDO:0030118,MedGen:C5394450,OMIM:618907 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKLR Pyruvate kinase hyperactivity mondo_mondo_0007067_medgen_c1863224_omim_102900 MONDO:MONDO:0007067,MedGen:C1863224,OMIM:102900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Cystic renal disease cystic_renal_disease . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGW Hyperphosphatasia with intellectual disability syndrome 5 mondo_mondo_0014457_medgen_c4014958_omim_616025_orphanet_247262 MONDO:MONDO:0014457,MedGen:C4014958,OMIM:616025,Orphanet:247262 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGG Emm-null phenotype medgen_c5677026 MedGen:C5677026 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Marden-Walker syndrome mondo_mondo_0009564_medgen_c0796033_omim_248700_orphanet_2461 MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700,Orphanet:2461 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KA PI4KA-related disorder mondo_mondo_1040012_medgen_cn378147 MONDO:MONDO:1040012,MedGen:CN378147 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKB PHKB-related disorder phkb_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHACTR1 Developmental and epileptic encephalopathy, 70 mondo_mondo_0032663_medgen_c4749023_omim_618298 MONDO:MONDO:0032663,MedGen:C4749023,OMIM:618298 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Phytanic acid storage disease mondo_mondo_0009958_medgen_c0034960_omim_266500_orphanet_773 MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 PEX7-related disorder pex7_related_disorder MedGen:CN239409 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX14 Peroxisome biogenesis disorder, complementation group K mondo_mondo_0800365_medgen_c1866257 MONDO:MONDO:0800365,MedGen:C1866257 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PET100 Mitochondrial complex IV deficiency, nuclear type 12 mondo_mondo_0033646_medgen_c5436695_omim_619055 MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRB Myofibromatosis, infantile, 1 mondo_mondo_0009227_medgen_c4551572_omim_228550_orphanet_2591 MONDO:MONDO:0009227,MedGen:C4551572,OMIM:228550,Orphanet:2591 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRB Basal ganglia calcification, idiopathic, 4 mondo_mondo_0014004_medgen_c3554321_omim_615007_orphanet_1980 MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007,Orphanet:1980 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A Intellectual developmental disorder with paroxysmal dyskinesia or seizures mondo_mondo_0030900_medgen_c5436894_omim_619150 MONDO:MONDO:0030900,MedGen:C5436894,OMIM:619150 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCYT1A condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCNT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Glycine encephalopathy human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 PCDH15-related disorder pcdh15_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCCB PCCB-related disorder pccb_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PC condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HTM Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities mondo_mondo_0032780_medgen_c5193124_omim_618493 MONDO:MONDO:0032780,MedGen:C5193124,OMIM:618493 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Rippling muscle disease 2 mondo_mondo_0019947_medgen_c1832560_omim_606072_orphanet_265 MONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072,Orphanet:265 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL OTOGL-related disorder otogl_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Auditory neuropathy, autosomal recessive, 1 auditory_neuropathy_autosomal_recessive_1 MedGen:CN315828 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OGT condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAPH Amelogenesis imperfecta hypomaturation type 2A4 mondo_mondo_0013906_medgen_c3553830_omim_614832_orphanet_88661 MONDO:MONDO:0013906,MedGen:C3553830,OMIM:614832,Orphanet:88661 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NYX Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP93 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP188 condition not provided condition_not_provided .|MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSF Developmental and epileptic encephalopathy 96 mondo_mondo_0023659_medgen_c5543446_omim_619340 MONDO:MONDO:0023659,MedGen:C5543446,OMIM:619340 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 NSD2-related disorder nsd2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR6A1 Oculovertebral syndrome mondo_mondo_0979866_medgen_cn379759_omim_621277 MONDO:MONDO:0979866,MedGen:CN379759,OMIM:621277 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B1 NR0B1-related disorder nr0b1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPTX1 Spinocerebellar ataxia 50 mondo_mondo_0859334_medgen_c5774272_omim_620158 MONDO:MONDO:0859334,MedGen:C5774272,OMIM:620158 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPTN NPTN-related neurodevelopmental disorder nptn_related_neurodevelopmental_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 NPR2-related disorder npr2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG Stapes ankylosis with broad thumbs and toes mondo_mondo_0008484_medgen_c1866656_omim_184460_orphanet_140917 MONDO:MONDO:0008484,MedGen:C1866656,OMIM:184460,Orphanet:140917 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOBOX Premature ovarian failure 5 mondo_mondo_0012689_medgen_c1969060_omim_611548 MONDO:MONDO:0012689,MedGen:C1969060,OMIM:611548 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NNT condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Keratitis fugax hereditaria mondo_mondo_0007849_medgen_c1835697_omim_148200_orphanet_647815 MONDO:MONDO:0007849,MedGen:C1835697,OMIM:148200,Orphanet:647815 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP12 condition not provided condition_not_provided .|MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRC4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN3 Autism, susceptibility to, X-linked 1 mondo_mondo_0010321_medgen_c1845540_omim_300425 MONDO:MONDO:0010321,MedGen:C1845540,OMIM:300425 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKIRAS1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPAL4 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIN Seckel syndrome 7 mondo_mondo_0013922_medgen_c3553870_omim_614851_orphanet_319675 MONDO:MONDO:0013922,MedGen:C3553870,OMIM:614851,Orphanet:319675 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 SMARCB1-related schwannomatosis mondo_mondo_0024517_medgen_c4048809_omim_162091_orphanet_93921 MONDO:MONDO:0024517,MedGen:C4048809,OMIM:162091,Orphanet:93921 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV2 Mitochondrial complex I deficiency, nuclear type 7 mondo_mondo_0032612_medgen_c4748760_omim_618229 MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA10 Mitochondrial complex I deficiency, nuclear type 22 mondo_mondo_0032626_medgen_c4748796_omim_618243 MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Lissencephaly 4 mondo_mondo_0013527_medgen_c3151461_omim_614019_orphanet_1083 MONDO:MONDO:0013527,MedGen:C3151461,OMIM:614019,Orphanet:1083 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF4 Chronic granulomatous disease mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA Cerebellar, ocular, craniofacial, and genital syndrome mondo_mondo_0032774_medgen_c5193118_omim_618479 MONDO:MONDO:0032774,MedGen:C5193118,OMIM:618479 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAXE condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS1 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities mondo_mondo_0030837_medgen_c5436788_omim_619092 MONDO:MONDO:0030837,MedGen:C5436788,OMIM:619092 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU NAGLU-related disorder naglu_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA60 Basal ganglia calcification, idiopathic, 9, autosomal recessive mondo_mondo_0968977_medgen_c5935607_omim_620786 MONDO:MONDO:0968977,MedGen:C5935607,OMIM:620786 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 NAA15-related disorder naa15_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 Microphthalmia, syndromic 1 mondo_mondo_0010671_medgen_c0796016_omim_309800_orphanet_568_orphanet_85275 MONDO:MONDO:0010671,MedGen:C0796016,OMIM:309800,Orphanet:568,Orphanet:85275 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 MYO6-related disorder myo6_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5A Griscelli syndrome type 1 mondo_mondo_0008962_medgen_c1859194_omim_214450_orphanet_381_orphanet_79476 MONDO:MONDO:0008962,MedGen:C1859194,OMIM:214450,Orphanet:381,Orphanet:79476 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO19 Hyperphosphatasia with intellectual disability syndrome 5 mondo_mondo_0014457_medgen_c4014958_omim_616025_orphanet_247262 MONDO:MONDO:0014457,MedGen:C4014958,OMIM:616025,Orphanet:247262 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYMK Congenital nonprogressive myopathy with Moebius and Robin sequences mondo_mondo_0031415_medgen_c1850746_omim_ps254940_orphanet_1358 MONDO:MONDO:0031415,MedGen:C1850746,OMIM:PS254940,Orphanet:1358 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYLK Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYEF2 Oculocutaneous albinism type 6 mondo_mondo_0018264_medgen_c3805375_omim_113750_orphanet_370097 MONDO:MONDO:0018264,MedGen:C3805375,OMIM:113750,Orphanet:370097 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYCN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Deficiency of mevalonate kinase mondo_mondo_0017708_medgen_c0342731_orphanet_309025 MONDO:MONDO:0017708,MedGen:C0342731,Orphanet:309025 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Pilomatrixoma human_phenotype_ontology_hp_0030434_mondo_mondo_0007564_mesh_d018296_medgen_c0206711_omim_132600_orphanet_91414 Human_Phenotype_Ontology:HP:0030434,MONDO:MONDO:0007564,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:91414 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTTP MTTP-related disorder mttp_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFD1 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL2 Karayol-Borroto-Haghshenas neurodevelopmental syndrome mondo_mondo_0975836_medgen_c5975476_omim_620985 MONDO:MONDO:0975836,MedGen:C5975476,OMIM:620985 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH4 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH3 MSH3-related disorder msh3_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS34 Combined oxidative phosphorylation deficiency 32 mondo_mondo_0054654_medgen_c4540029_omim_617664 MONDO:MONDO:0054654,MedGen:C4540029,OMIM:617664 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 MPV17-related disorder mpv17_related_disorder MedGen:CN239328 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPC1 Mitochondrial pyruvate carrier deficiency mondo_mondo_0013877_medgen_c3553607_omim_614741_orphanet_447784 MONDO:MONDO:0013877,MedGen:C3553607,OMIM:614741,Orphanet:447784 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MN1 MN1 C-terminal truncation (MCTT) syndrome mn1_c_terminal_truncation_mctt_syndrome . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP13 Spondyloepimetaphyseal dysplasia, Missouri type mondo_mondo_0011198_medgen_c1865832_omim_602111_orphanet_1040_orphanet_93356 MONDO:MONDO:0011198,MedGen:C1865832,OMIM:602111,Orphanet:1040,Orphanet:93356 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMADHC Cobalamin C disease mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLPH Griscelli syndrome type 3 mondo_mondo_0012220_medgen_c1836573_omim_609227_orphanet_381_orphanet_79478 MONDO:MONDO:0012220,MedGen:C1836573,OMIM:609227,Orphanet:381,Orphanet:79478 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKRN3 Precocious puberty, central, 2 mondo_mondo_0014137_medgen_c3809199_omim_615346_orphanet_759 MONDO:MONDO:0014137,MedGen:C3809199,OMIM:615346,Orphanet:759 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITD1 Lipoyl transferase 1 deficiency mondo_mondo_0014576_medgen_c4225379_omim_616299_orphanet_401862 MONDO:MONDO:0014576,MedGen:C4225379,OMIM:616299,Orphanet:401862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIP condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Microcephaly 15, primary, autosomal recessive mondo_mondo_0014660_medgen_c4225310_omim_616486_orphanet_2512 MONDO:MONDO:0014660,MedGen:C4225310,OMIM:616486,Orphanet:2512 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 MFN2-related disorder mfn2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Papillary renal cell carcinoma type 1 human_phenotype_ontology_hp_0011797_medgen_c1336839_omim_605074_orphanet_47044 Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEOX1 Klippel-Feil syndrome 2, autosomal recessive mondo_mondo_0008958_medgen_c1859209_omim_214300_orphanet_2345 MONDO:MONDO:0008958,MedGen:C1859209,OMIM:214300,Orphanet:2345 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIOB Spermatogenic failure 22 mondo_mondo_0054726_medgen_c4540179_omim_617706 MONDO:MONDO:0054726,MedGen:C4540179,OMIM:617706 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEI1 Hydatidiform mole, recurrent, 3 mondo_mondo_0032746_medgen_c5193093_omim_618431 MONDO:MONDO:0032746,MedGen:C5193093,OMIM:618431 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV MEFV-related disorder mefv_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 X-linked intellectual disability with marfanoid habitus mondo_mondo_0010655_medgen_c0796022_omim_309520_orphanet_776 MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520,Orphanet:776 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Supranuclear palsy, progressive, 1 mondo_mondo_0010997_medgen_c4551863_omim_601104_orphanet_240071 MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104,Orphanet:240071 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPKAPK5 Neurocardiofaciodigital syndrome mondo_mondo_0859247_medgen_c5677020_omim_619869 MONDO:MONDO:0859247,MedGen:C5677020,OMIM:619869 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK8IP3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Melorheostosis human_phenotype_ontology_hp_6000817_mondo_mondo_0007970_medgen_c3149631_omim_155950_orphanet_2485 Human_Phenotype_Ontology:HP:6000817,MONDO:MONDO:0007970,MedGen:C3149631,OMIM:155950,Orphanet:2485 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Periventricular nodular heterotopia human_phenotype_ontology_hp_0032388_mondo_mondo_0020341_mesh_d054091_medgen_c1868720_omim_ps300049_orphanet_98892 Human_Phenotype_Ontology:HP:0032388,MONDO:MONDO:0020341,MeSH:D054091,MedGen:C1868720,OMIM:PS300049,Orphanet:98892 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MADD MADD-related disorder madd_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAB21L1 Cerebellar, ocular, craniofacial, and genital syndrome mondo_mondo_0032774_medgen_c5193118_omim_618479 MONDO:MONDO:0032774,MedGen:C5193118,OMIM:618479 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP3 Geleophysic dysplasia 3 mondo_mondo_0054722_medgen_c4540511_omim_617809 MONDO:MONDO:0054722,MedGen:C4540511,OMIM:617809 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma mondo_mondo_0009633_medgen_c3538951_omim_251750_orphanet_238763 MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,Orphanet:238763 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP1 Cutis laxa, autosomal recessive, type 2E mondo_mondo_0030337_medgen_c5561944_omim_619451 MONDO:MONDO:0030337,MedGen:C5561944,OMIM:619451 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSS Hypotrichosis 14 mondo_mondo_0032649_medgen_c4748930_omim_618275 MONDO:MONDO:0032649,MedGen:C4748930,OMIM:618275 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK1 Osteosclerotic metaphyseal dysplasia mondo_mondo_0014080_medgen_c3554665_omim_615198_orphanet_500548 MONDO:MONDO:0014080,MedGen:C3554665,OMIM:615198,Orphanet:500548 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Developmental and epileptic encephalopathy 96 mondo_mondo_0023659_medgen_c5543446_omim_619340 MONDO:MONDO:0023659,MedGen:C5543446,OMIM:619340 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Tooth agenesis human_phenotype_ontology_hp_0009804_medgen_c4024202 Human_Phenotype_Ontology:HP:0009804,MedGen:C4024202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRIG2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LONP1 CODAS syndrome mondo_mondo_0010879_medgen_c1838180_omim_600373_orphanet_1458 MONDO:MONDO:0010879,MedGen:C1838180,OMIM:600373,Orphanet:1458 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 Developmental delay with variable neurologic and brain abnormalities mondo_mondo_0859218_medgen_c5562060_omim_619694 MONDO:MONDO:0859218,MedGen:C5562060,OMIM:619694 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPT1 Lipoyl transferase 1 deficiency mondo_mondo_0014576_medgen_c4225379_omim_616299_orphanet_401862 MONDO:MONDO:0014576,MedGen:C4225379,OMIM:616299,Orphanet:401862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPH condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPH Woolly hair, autosomal recessive 2, with or without hypotrichosis medgen_c3148823 MedGen:C3148823 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHB Isolated lutropin deficiency mondo_mondo_0009223_medgen_c0271582_omim_228300_orphanet_325448 MONDO:MONDO:0009223,MedGen:C0271582,OMIM:228300,Orphanet:325448 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI3 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects mondo_mondo_0859277_medgen_c5774199_omim_620007 MONDO:MONDO:0859277,MedGen:C5774199,OMIM:620007 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAT condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS1 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mondo_mondo_0013111_medgen_c3278664_omim_613070_orphanet_217371 MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 LAMA3-related disorder lama3_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Congenital muscular dystrophy due to partial LAMA2 deficiency medgen_c1842898 MedGen:C1842898 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT86 Monilethrix human_phenotype_ontology_hp_0032470_mondo_mondo_0008009_medgen_c0546966_omim_ps158000_orphanet_573 Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:PS158000,Orphanet:573 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Dermatopathia pigmentosa reticularis mondo_mondo_0007445_medgen_c0406778_omim_125595_orphanet_86920 MONDO:MONDO:0007445,MedGen:C0406778,OMIM:125595,Orphanet:86920 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KPTN condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KPNA3 Spastic paraplegia 88, autosomal dominant mondo_mondo_0859309_medgen_c5774247_omim_620106 MONDO:MONDO:0859309,MedGen:C5774247,OMIM:620106 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Branchial cleft anomaly medgen_c0079037_omim_113600 MedGen:C0079037,OMIM:113600 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL3 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF1 Congenital dyserythropoietic anemia type 4 mondo_mondo_0013355_medgen_c3150926_omim_613673_orphanet_293825 MONDO:MONDO:0013355,MedGen:C3150926,OMIM:613673,Orphanet:293825 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF1 Anemia, congenital dyserythropoietic, type IVb mondo_mondo_0975829_medgen_c5975438_omim_620969 MONDO:MONDO:0975829,MedGen:C5975438,OMIM:620969 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF4A Intellectual disability, X-linked 100 mondo_mondo_0010488_medgen_c3890167_omim_300923 MONDO:MONDO:0010488,MedGen:C3890167,OMIM:300923 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF2A Complex cortical dysplasia with other brain malformations 3 mondo_mondo_0014170_medgen_c3809414_omim_615411 MONDO:MONDO:0014170,MedGen:C3809414,OMIM:615411 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Neuropathy, hereditary sensory and autonomic, type 2A mondo_mondo_0024309_medgen_c2752089_omim_201300_orphanet_970 MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF14 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0753 Orofaciodigital syndrome XV mondo_mondo_0014932_medgen_c4310701_omim_617127 MONDO:MONDO:0014932,MedGen:C4310701,OMIM:617127 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0753 Joubert syndrome 38 mondo_mondo_0030353_medgen_c5561958_omim_619476 MONDO:MONDO:0030353,MedGen:C5561958,OMIM:619476 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDSR Erythrokeratodermia variabilis et progressiva 4 mondo_mondo_0033014_medgen_c4479620_omim_617526 MONDO:MONDO:0033014,MedGen:C4479620,OMIM:617526 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5B KDM5B-related disorder kdm5b_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5A El Hayek-Chahrour neurodevelopmental disorder mondo_mondo_0970951_medgen_c5935620_omim_620820 MONDO:MONDO:0970951,MedGen:C5935620,OMIM:620820 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM2B Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities mondo_mondo_0980965_medgen_cn380856_omim_621474 MONDO:MONDO:0980965,MedGen:CN380856,OMIM:621474 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK9 Birk-Barel syndrome mondo_mondo_0012856_medgen_c2676770_omim_612292_orphanet_166108 MONDO:MONDO:0012856,MedGen:C2676770,OMIM:612292,Orphanet:166108 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH5 Developmental and epileptic encephalopathy 112 mondo_mondo_0957812_medgen_c5882700_omim_620537 MONDO:MONDO:0957812,MedGen:C5882700,OMIM:620537 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 Jervell and Lange-Nielsen syndrome 2 mondo_mondo_0012871_medgen_c2676723_omim_612347_orphanet_768_orphanet_90647 MONDO:MONDO:0012871,MedGen:C2676723,OMIM:612347,Orphanet:768,Orphanet:90647 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND2 Early myoclonic encephalopathy medgen_c0270855 MedGen:C0270855 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC3 Spinocerebellar ataxia type 13 mondo_mondo_0011529_medgen_c1854488_omim_605259_orphanet_98768 MONDO:MONDO:0011529,MedGen:C1854488,OMIM:605259,Orphanet:98768 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Arteriohepatic dysplasia mondo_mondo_0007318_mesh_d016738_medgen_c0085280_omim_ps118450_orphanet_52 MONDO:MONDO:0007318,MeSH:D016738,MedGen:C0085280,OMIM:PS118450,Orphanet:52 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA4 Retinitis pigmentosa 26 mondo_mondo_0012024_medgen_c1842127_omim_608380_orphanet_791 MONDO:MONDO:0012024,MedGen:C1842127,OMIM:608380,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INVS INVS-related disorder invs_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTS11 Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities mondo_mondo_0957386_medgen_c5830596_omim_620428 MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS INS-related disorder ins_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4A Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech mondo_mondo_0980699_medgen_cn379987_omim_621354 MONDO:MONDO:0980699,MedGen:CN379987,OMIM:621354 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL12RB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 IGHMBP2-related disorder ighmbp2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly mondo_mondo_0014915_medgen_c4310718_omim_617102 MONDO:MONDO:0014915,MedGen:C4310718,OMIM:617102 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Autosomal dominant polycystic kidney disease mondo_mondo_0004691_medgen_c0085413_orphanet_730 MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH3A Retinitis pigmentosa 90 mondo_mondo_0033563_medgen_c5436588_omim_619007 MONDO:MONDO:0033563,MedGen:C5436588,OMIM:619007 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 HUWE1-related disorder huwe1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 Charcot-Marie-Tooth disease axonal type 2L mondo_mondo_0012096_medgen_c1837552_omim_608673_orphanet_99945 MONDO:MONDO:0012096,MedGen:C1837552,OMIM:608673,Orphanet:99945 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HR Alopecia universalis congenita mondo_mondo_0008757_medgen_c1859877_omim_203655_orphanet_701 MONDO:MONDO:0008757,MedGen:C1859877,OMIM:203655,Orphanet:701 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HESX1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Spondylocostal dysostosis 4, autosomal recessive mondo_mondo_0013366_medgen_c3150942_omim_613686_orphanet_2311 MONDO:MONDO:0013366,MedGen:C3150942,OMIM:613686,Orphanet:2311 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBG1 Hereditary persistence of fetal hemoglobin mondo_mondo_0020989_medgen_c0019025_omim_141749 MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Autosomal dominant Charcot-Marie-Tooth disease type 2W mondo_mondo_0014711_medgen_c5567486_omim_616625_orphanet_488333 MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625,Orphanet:488333 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAMP Hemochromatosis type 2B mondo_mondo_0013220_medgen_c1865616_omim_613313_orphanet_79230 MONDO:MONDO:0013220,MedGen:C1865616,OMIM:613313,Orphanet:79230 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAAO Congenital NAD deficiency disorder congenital_nad_deficiency_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GZF1 Joint laxity, short stature, and myopia mondo_mondo_0060556_medgen_c4540020_omim_617662_orphanet_527450 MONDO:MONDO:0060556,MedGen:C4540020,OMIM:617662,Orphanet:527450 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF2H5 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF2H5 Trichothiodystrophy 3, photosensitive mondo_mondo_0014619_medgen_c4017171_omim_616395_orphanet_33364 MONDO:MONDO:0014619,MedGen:C4017171,OMIM:616395,Orphanet:33364 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSN Finnish type amyloidosis mondo_mondo_0007097_medgen_c1622345_omim_105120_orphanet_85448 MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120,Orphanet:85448 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM1 Autosomal recessive spinocerebellar ataxia 13 mondo_mondo_0013905_medgen_c3553816_omim_614831_orphanet_324262 MONDO:MONDO:0013905,MedGen:C3553816,OMIM:614831,Orphanet:324262 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B GRIN2B-related disorder grin2b_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP9 Bernard-Soulier syndrome type C medgen_c1856448 MedGen:C1856448 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOLGA2 Developmental delay with hypotonia, myopathy, and brain abnormalities mondo_mondo_0859375_medgen_c5830270_omim_620240 MONDO:MONDO:0859375,MedGen:C5830270,OMIM:620240 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Mucopolysaccharidosis, MPS-III-A mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia mondo_mondo_0014957_medgen_c4310678_omim_617182 MONDO:MONDO:0014957,MedGen:C4310678,OMIM:617182 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB4 Charcot-Marie-Tooth disease dominant intermediate F mondo_mondo_0014074_medgen_c4749463_omim_615185_orphanet_352670 MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI3 Auriculocondylar syndrome 1 mondo_mondo_0011234_medgen_c4551996_omim_602483_orphanet_137888 MONDO:MONDO:0011234,MedGen:C4551996,OMIM:602483,Orphanet:137888 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUL Congenital brain dysgenesis due to glutamine synthetase deficiency mondo_mondo_0012393_medgen_c1864910_omim_610015_orphanet_71278 MONDO:MONDO:0012393,MedGen:C1864910,OMIM:610015,Orphanet:71278 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLS condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 Hereditary spastic paraplegia 44 mondo_mondo_0013179_medgen_c2750784_omim_613206_orphanet_320401 MONDO:MONDO:0013179,MedGen:C2750784,OMIM:613206,Orphanet:320401 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA5 Atrial fibrillation, familial, 11 mondo_mondo_0013544_medgen_c3279693_omim_614049 MONDO:MONDO:0013544,MedGen:C3279693,OMIM:614049 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA3 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHR Growth hormone insensitivity syndrome mondo_mondo_0015892_medgen_c4318479_orphanet_181393 MONDO:MONDO:0015892,MedGen:C4318479,Orphanet:181393 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFER Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome mondo_mondo_0013116_medgen_c2751320_omim_613076_orphanet_330054 MONDO:MONDO:0013116,MedGen:C2751320,OMIM:613076,Orphanet:330054 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Symphalangism, proximal, 1B mondo_mondo_0014125_medgen_c3809104_omim_615298_orphanet_3250 MONDO:MONDO:0014125,MedGen:C3809104,OMIM:615298,Orphanet:3250 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form mondo_mondo_0017698_medgen_c1856304_orphanet_308670 MONDO:MONDO:0017698,MedGen:C1856304,Orphanet:308670 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATM Fanconi renotubular syndrome 1 mondo_mondo_0024525_medgen_c4551503_omim_134600 MONDO:MONDO:0024525,MedGen:C4551503,OMIM:134600 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 PEX1-related disorder pex1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Acute megakaryoblastic leukemia in down syndrome mondo_mondo_0020526_medgen_c5925108_orphanet_99887 MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNS GALNS-related disorder galns_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD6 Nonsyndromic congenital nail disorder 1 mondo_mondo_0008060_medgen_c0406443_omim_161050_orphanet_280654_orphanet_79153 MONDO:MONDO:0008060,MedGen:C0406443,OMIM:161050,Orphanet:280654,Orphanet:79153 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXN Friedreich ataxia mondo_mondo_0100339_medgen_c0016719_orphanet_95 MONDO:MONDO:0100339,MedGen:C0016719,Orphanet:95 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUT8 Congenital disorder of glycosylation with defective fucosylation 1 mondo_mondo_0020775_medgen_cn258220_omim_618005 MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUS FUS-related disorder fus_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 FREM2-related disorder frem2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXJ1 Ciliary dyskinesia, primary, 43 mondo_mondo_0032874_medgen_c5231466_omim_618699 MONDO:MONDO:0032874,MedGen:C5231466,OMIM:618699 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXH1 Conotruncal defect human_phenotype_ontology_hp_0001710_medgen_c1853238 Human_Phenotype_Ontology:HP:0001710,MedGen:C1853238 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 FOXG1-related disorder foxg1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FNIP1 Immunodeficiency 93 and hypertrophic cardiomyopathy mondo_mondo_0030528_medgen_c5676899_omim_619705_orphanet_693647 MONDO:MONDO:0030528,MedGen:C5676899,OMIM:619705,Orphanet:693647 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMR1 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMR1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMN2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Atelosteogenesis type III mondo_mondo_0007168_medgen_c3668942_omim_108721_orphanet_56305 MONDO:MONDO:0007168,MedGen:C3668942,OMIM:108721,Orphanet:56305 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Periventricular nodular heterotopia human_phenotype_ontology_hp_0032388_mondo_mondo_0020341_mesh_d054091_medgen_c1868720_omim_ps300049_orphanet_98892 Human_Phenotype_Ontology:HP:0032388,MONDO:MONDO:0020341,MeSH:D054091,MedGen:C1868720,OMIM:PS300049,Orphanet:98892 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA FG syndrome 2 mondo_mondo_0010297_medgen_c1845902_omim_300321 MONDO:MONDO:0010297,MedGen:C1845902,OMIM:300321 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Autosomal dominant ichthyosis vulgaris mondo_mondo_0007810_medgen_c0432300 MONDO:MONDO:0007810,MedGen:C0432300 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 Osteogenesis imperfecta type 12 mondo_mondo_0013460_medgen_c3151433_omim_613849_orphanet_666 MONDO:MONDO:0013460,MedGen:C3151433,OMIM:613849,Orphanet:666 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FILIP1 Neuromuscular disorder, congenital, with dysmorphic facies mondo_mondo_0958332_medgen_c5935643_omim_620775 MONDO:MONDO:0958332,MedGen:C5935643,OMIM:620775 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 X-linked scapuloperoneal muscular dystrophy mondo_mondo_0010400_medgen_c2678061_omim_300695_orphanet_431272 MONDO:MONDO:0010400,MedGen:C2678061,OMIM:300695,Orphanet:431272 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Common craniosynostosis syndromes common_craniosynostosis_syndromes . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Hypogonadotropic hypogonadism 2 with anosmia medgen_c4016104 MedGen:C4016104 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF23 Autosomal dominant hypophosphatemic rickets mondo_mondo_0008660_medgen_c0342642_omim_193100_orphanet_89937 MONDO:MONDO:0008660,MedGen:C0342642,OMIM:193100,Orphanet:89937 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF13 Developmental and epileptic encephalopathy, 90 mondo_mondo_0025353_medgen_c5542345_omim_301058 MONDO:MONDO:0025353,MedGen:C5542345,OMIM:301058 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF10 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDXR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCHO1 Severe congenital neutropenia mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCHO1 Immunodeficiency 76 mondo_mondo_0030898_medgen_c5543004_omim_619164_orphanet_647804 MONDO:MONDO:0030898,MedGen:C5543004,OMIM:619164,Orphanet:647804 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Familial aortopathy familial_aortopathy MedGen:CN078214 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSB condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 Hereditary spastic paraplegia 77 mondo_mondo_0014882_medgen_c5569007_omim_617046_orphanet_466722 MONDO:MONDO:0014882,MedGen:C5569007,OMIM:617046,Orphanet:466722 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 FARS2-related disorder fars2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2OS condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCB condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCB Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM111A Osteocraniostenosis mondo_mondo_0011215_medgen_c1865639_omim_602361_orphanet_2763 MONDO:MONDO:0011215,MedGen:C1865639,OMIM:602361,Orphanet:2763 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Hemophilia B leyden mondo_mondo_0850054_medgen_c5848256_orphanet_617930 MONDO:MONDO:0850054,MedGen:C5848256,Orphanet:617930 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Thrombophilia due to thrombin defect mondo_mondo_0008559_medgen_c3160733_omim_188050 MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F10 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF ERF-related disorder erf_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Chitayat syndrome mondo_mondo_0014956_medgen_c4310679_omim_617180 MONDO:MONDO:0014956,MedGen:C4310679,OMIM:617180 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC1 Cerebrooculofacioskeletal syndrome 4 mondo_mondo_0012554_medgen_c1853100_omim_610758 MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB3 Lethal congenital contracture syndrome 2 mondo_mondo_0011868_medgen_c1843478_omim_607598_orphanet_137776 MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598,Orphanet:137776 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB42 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPAS1 Erythrocytosis, familial, 4 mondo_mondo_0012729_medgen_c2673187_omim_611783_orphanet_247511 MONDO:MONDO:0012729,MedGen:C2673187,OMIM:611783,Orphanet:247511 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENAM condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL4 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome mondo_mondo_0013760_medgen_c3280856_omim_614457_orphanet_352333 MONDO:MONDO:0013760,MedGen:C3280856,OMIM:614457,Orphanet:352333 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B3 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGR2 Charcot-Marie-Tooth disease type 1D mondo_mondo_0011890_medgen_c1843247_omim_607678_orphanet_101084 MONDO:MONDO:0011890,MedGen:C1843247,OMIM:607678,Orphanet:101084 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Tyrosine kinase inhibitor response tyrosine_kinase_inhibitor_response MedGen:CN225347 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDN3 Waardenburg syndrome type 4B mondo_mondo_0013201_medgen_c2750457_omim_613265_orphanet_897 MONDO:MONDO:0013201,MedGen:C2750457,OMIM:613265,Orphanet:897 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBP MEND syndrome mondo_mondo_0010498_medgen_c4085243_omim_300960_orphanet_401973 MONDO:MONDO:0010498,MedGen:C4085243,OMIM:300960,Orphanet:401973 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Autosomal dominant Robinow syndrome 2 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Autosomal dominant Robinow syndrome 1 mondo_mondo_0024455_medgen_c4551475_omim_180700_orphanet_3107_orphanet_97360 MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST CONGENITAL MYOPATHY 29 WITH CONTRACTURES congenital_myopathy_29_with_contractures MedGen:CN380903,OMIM:621510 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Pulp calcification human_phenotype_ontology_hp_0003771_medgen_c1527284_orphanet_1653 Human_Phenotype_Ontology:HP:0003771,MedGen:C1527284,Orphanet:1653 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 Severe dermatitis-multiple allergies-metabolic wasting syndrome mondo_mondo_0014218_medgen_c3809719_omim_615508_orphanet_369992 MONDO:MONDO:0014218,MedGen:C3809719,OMIM:615508,Orphanet:369992 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC9 Diamond-Blackfan anemia 5 mondo_mondo_0012925_medgen_c2675859_omim_612528_orphanet_124 MONDO:MONDO:0012925,MedGen:C2675859,OMIM:612528,Orphanet:124 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC1 Spermatogenic failure 80 mondo_mondo_0859364_medgen_c5774301_omim_620222 MONDO:MONDO:0859364,MedGen:C5774301,OMIM:620222 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPY19L2 Spermatogenic failure 9 mondo_mondo_0013505_medgen_c3151407_omim_613958_orphanet_171709 MONDO:MONDO:0013505,MedGen:C3151407,OMIM:613958,Orphanet:171709 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH1 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT1 Autosomal dominant cerebellar ataxia, deafness and narcolepsy mondo_mondo_0011397_medgen_c4302668_omim_604121_orphanet_314404 MONDO:MONDO:0011397,MedGen:C4302668,OMIM:604121,Orphanet:314404 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNASE1L1 3-Methylglutaconic aciduria type 2 mondo_mondo_0010543_medgen_c0574083_omim_302060_orphanet_111 MONDO:MONDO:0010543,MedGen:C0574083,OMIM:302060,Orphanet:111 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC30 Leber-like hereditary optic neuropathy, autosomal recessive 1 mondo_mondo_0958183_medgen_cn376811_omim_619382 MONDO:MONDO:0958183,MedGen:CN376811,OMIM:619382 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB6 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF6 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF4 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNA2 Rothmund-Thomson syndrome type 4 mondo_mondo_0970950_medgen_c5935619_omim_620819 MONDO:MONDO:0970950,MedGen:C5935619,OMIM:620819 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNA2 Rothmund-Thomson syndrome mondo_mondo_0010002_medgen_c0032339_omim_ps268400_orphanet_2909 MONDO:MONDO:0010002,MedGen:C0032339,OMIM:PS268400,Orphanet:2909 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMP1 Hypophosphatemic rickets, autosomal recessive, 1 mondo_mondo_0009430_medgen_c4551495_omim_241520_orphanet_289176 MONDO:MONDO:0009430,MedGen:C4551495,OMIM:241520,Orphanet:289176 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIP2C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Pineoblastoma human_phenotype_ontology_hp_0030408_human_phenotype_ontology_hp_0040193_mondo_mondo_0016722_medgen_c0205898_orphanet_251909 Human_Phenotype_Ontology:HP:0030408,Human_Phenotype_Ontology:HP:0040193,MONDO:MONDO:0016722,MedGen:C0205898,Orphanet:251909 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX9 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 46,XY sex reversal 11 human_phenotype_ontology_hp_0012870_mondo_mondo_8000015_medgen_c0266427_omim_273250_orphanet_983 Human_Phenotype_Ontology:HP:0012870,MONDO:MONDO:8000015,MedGen:C0266427,OMIM:273250,Orphanet:983 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Neuromuscular disease and ocular or auditory anomalies with or without seizures mondo_mondo_0032890_medgen_c5231483_omim_618733 MONDO:MONDO:0032890,MedGen:C5231483,OMIM:618733 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEF6 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 DEAF1-related disorder deaf1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCPS Al-Raqad syndrome mondo_mondo_0014648_medgen_c4085595_omim_616459 MONDO:MONDO:0014648,MedGen:C4085595,OMIM:616459 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DACT1 Townes-Brocks syndrome 2 mondo_mondo_0054582_medgen_c4479534_omim_617466 MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence D2HGDH condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYGB Retinitis pigmentosa 36 mondo_mondo_0012523_medgen_c1864621_omim_610599_orphanet_791 MONDO:MONDO:0012523,MedGen:C1864621,OMIM:610599,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYGB Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSC condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA GALACTOSIALIDOSIS, LATE INFANTILE medgen_c4017292 MedGen:C4017292 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTR9 condition not provided condition_not_provided .|MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA2 Cortical dysplasia, complex, with other brain malformations 9 mondo_mondo_0032578_medgen_c4748540_omim_618174 MONDO:MONDO:0032578,MedGen:C4748540,OMIM:618174 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTC1 CTC1-related disorder ctc1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSRP3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSGALNACT1 Skeletal dysplasia, mild, with joint laxity and advanced bone age mondo_mondo_0030029_medgen_c5394341_omim_618870 MONDO:MONDO:0030029,MedGen:C5394341,OMIM:618870 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB2 CRB2-related disorder crb2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPSF1 Myopia 27 mondo_mondo_0032941_medgen_c5394215_omim_618827 MONDO:MONDO:0032941,MedGen:C5394215,OMIM:618827 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLQ Synaptic congenital myasthenic syndromes medgen_c5681640_orphanet_98915 MedGen:C5681640,Orphanet:98915 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLQ Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa mondo_mondo_0006541_mesh_d004820_medgen_c0014527 MONDO:MONDO:0006541,MeSH:D004820,MedGen:C0014527 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Dystonia 27 mondo_mondo_0014627_medgen_c4225336_omim_616411_orphanet_464440 MONDO:MONDO:0014627,MedGen:C4225336,OMIM:616411,Orphanet:464440 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COASY Pontocerebellar hypoplasia, type 12 mondo_mondo_0032643_medgen_c4748873_omim_618266_orphanet_611256 MONDO:MONDO:0032643,MedGen:C4748873,OMIM:618266,Orphanet:611256 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COA7 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 mondo_mondo_0020770_medgen_c5193070_omim_618387 MONDO:MONDO:0020770,MedGen:C5193070,OMIM:618387 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Holoprosencephaly 12 with or without pancreatic agenesis mondo_mondo_0032787_medgen_c5193131_omim_618500 MONDO:MONDO:0032787,MedGen:C5193131,OMIM:618500 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 CNGB3-related disorder cngb3_related_disorder MedGen:CN239340 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 CNGA3-related disorder cnga3_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 RETINITIS PIGMENTOSA 101 retinitis_pigmentosa_101 MedGen:CN381042,OMIM:621548 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN19 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN16 Neonatal ichthyosis-sclerosing cholangitis syndrome mondo_mondo_0011874_medgen_c1843355_omim_607626_orphanet_59303 MONDO:MONDO:0011874,MedGen:C1843355,OMIM:607626,Orphanet:59303 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN1 Neonatal ichthyosis-sclerosing cholangitis syndrome mondo_mondo_0011874_medgen_c1843355_omim_607626_orphanet_59303 MONDO:MONDO:0011874,MedGen:C1843355,OMIM:607626,Orphanet:59303 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIROP Heterotaxy, visceral, 12, autosomal mondo_mondo_0859222_medgen_c5676898_omim_619702 MONDO:MONDO:0859222,MedGen:C5676898,OMIM:619702 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHSY1 Temtamy preaxial brachydactyly syndrome mondo_mondo_0011533_medgen_c1854466_omim_605282_orphanet_363417 MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282,Orphanet:363417 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAF1A Craniofacial microsomia mondo_mondo_0015397_medgen_c0265240_omim_ps164210_orphanet_141132 MONDO:MONDO:0015397,MedGen:C0265240,OMIM:PS164210,Orphanet:141132 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFL2 Nemaline myopathy 7 mondo_mondo_0012538_medgen_c1853154_omim_610687_orphanet_171436 MONDO:MONDO:0012538,MedGen:C1853154,OMIM:610687,Orphanet:171436 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFD Recurrent Neisseria infections due to factor D deficiency mondo_mondo_0013487_medgen_c0398764_omim_613912_orphanet_169467 MONDO:MONDO:0013487,MedGen:C0398764,OMIM:613912,Orphanet:169467 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP58 Spermatogenic failure 49 mondo_mondo_0030868_medgen_c5436887_omim_619144 MONDO:MONDO:0030868,MedGen:C5436887,OMIM:619144 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP54 Spermatogenic failure 98 mondo_mondo_0700290_medgen_c6012703_omim_621124 MONDO:MONDO:0700290,MedGen:C6012703,OMIM:621124 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP418 Bardet-biedl syndrome 21 mondo_mondo_0044308_medgen_c4319932_omim_617406 MONDO:MONDO:0044308,MedGen:C4319932,OMIM:617406 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP298 Primary ciliary dyskinesia 26 mondo_mondo_0014211_medgen_c3809684_omim_615500_orphanet_244 MONDO:MONDO:0014211,MedGen:C3809684,OMIM:615500,Orphanet:244 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP83 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEBPE Specific granule deficiency 1 mondo_mondo_0044207_medgen_c4551556_omim_245480_orphanet_169142 MONDO:MONDO:0044207,MedGen:C4551556,OMIM:245480,Orphanet:169142 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDSN Peeling skin syndrome 1 mondo_mondo_0024548_medgen_c5679693_omim_270300_orphanet_263543_orphanet_263553 MONDO:MONDO:0024548,MedGen:C5679693,OMIM:270300,Orphanet:263543,Orphanet:263553 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A CDKN2A-related disorder cdkn2a_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 CDKL5-related disorder cdkl5_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 EEM syndrome mondo_mondo_0009155_medgen_c1857041_omim_225280_orphanet_1897 MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280,Orphanet:1897 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 Syndromic neurodevelopmental disorder syndromic_neurodevelopmental_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 CDH1-related disorder cdh1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD36 Malaria, susceptibility to mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD2AP condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD19 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD19 Immunodeficiency, common variable, 3 mondo_mondo_0013283_medgen_c3150738_omim_613493_orphanet_1572 MONDO:MONDO:0013283,MedGen:C3150738,OMIM:613493,Orphanet:1572 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD151 Epidermolysis bullosa simplex 7, with nephropathy and deafness mondo_mondo_0012190_medgen_c1836823_omim_609057_orphanet_300333 MONDO:MONDO:0012190,MedGen:C1836823,OMIM:609057,Orphanet:300333 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCM2 CCM2-related disorder ccm2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Long QT syndrome 9 mondo_mondo_0012736_medgen_c2678485_omim_611818_orphanet_101016_orphanet_768 MONDO:MONDO:0012736,MedGen:C2678485,OMIM:611818,Orphanet:101016,Orphanet:768 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV1 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome mondo_mondo_0011714_medgen_c3807567_omim_606721 MONDO:MONDO:0011714,MedGen:C3807567,OMIM:606721 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ2 Catecholaminergic polymorphic ventricular tachycardia mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK CASK-related disorder cask_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN15 Oculogastrointestinal-neurodevelopmental syndrome mondo_mondo_0036189_medgen_c5543355_omim_619318_orphanet_611201 MONDO:MONDO:0036189,MedGen:C5543355,OMIM:619318,Orphanet:611201 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM3 Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1I Neurodevelopmental disorder with speech impairment and with or without seizures mondo_mondo_0859313_medgen_c5774252_omim_620114 MONDO:MONDO:0859313,MedGen:C5774252,OMIM:620114 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F CACNA1F-related disorder cacna1f_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A CACNA1A-related complex neurodevelopmental disorder mondo_mondo_0100254_medgen_cn323281 MONDO:MONDO:0100254,MedGen:CN323281 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C9 Age related macular degeneration 15 mondo_mondo_0014266_medgen_c3810042_omim_615591 MONDO:MONDO:0014266,MedGen:C3810042,OMIM:615591 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C6 C6-related disorder c6_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C5 Eculizumab, poor response to medgen_c3810402_omim_615749 MedGen:C3810402,OMIM:615749 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2 Complement component 2 deficiency mondo_mondo_0009006_medgen_c0398756_omim_217000 MONDO:MONDO:0009006,MedGen:C0398756,OMIM:217000 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Neurodegeneration with brain iron accumulation mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Spermatogenic failure 52 mondo_mondo_0030938_medgen_c5543094_omim_619202 MONDO:MONDO:0030938,MedGen:C5543094,OMIM:619202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Polyposis syndrome, hereditary mixed, 1 mondo_mondo_0042486_medgen_c1832587_omim_601228_orphanet_157794 MONDO:MONDO:0042486,MedGen:C1832587,OMIM:601228,Orphanet:157794 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF BRAF-related disorder braf_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 BMPR2-related disorder bmpr2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP4 condition not provided condition_not_provided .|MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP1 Cataract 33 mondo_mondo_0012665_medgen_c3808107_omim_611391_orphanet_91492 MONDO:MONDO:0012665,MedGen:C3808107,OMIM:611391,Orphanet:91492 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L BCS1L-related disorder bcs1l_related_disorder MedGen:CN239240 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 Immunodeficiency 37 mondo_mondo_0014491_medgen_c4015195_omim_616098 MONDO:MONDO:0014491,MedGen:C4015195,OMIM:616098 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 Follicular lymphoma human_phenotype_ontology_hp_0033125_mondo_mondo_0018906_medgen_c0024301_orphanet_545 Human_Phenotype_Ontology:HP:0033125,MONDO:MONDO:0018906,MedGen:C0024301,Orphanet:545 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAT2 Hypervalinemia and hyperleucine-isoleucinemia mondo_mondo_0100058_medgen_c5394277_omim_618850 MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS5 BBS5-related disorder bbs5_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBOF1 Methylmalonate semialdehyde dehydrogenase deficiency mondo_mondo_0013579_medgen_c3279840_omim_614105_orphanet_289307 MONDO:MONDO:0013579,MedGen:C3279840,OMIM:614105,Orphanet:289307 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAZ2B BAZ2B-related disorder baz2b_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAIAP2 Developmental and epileptic encephalopathy 120 mondo_mondo_0980948_medgen_cn380824_omim_621468 MONDO:MONDO:0980948,MedGen:CN380824,OMIM:621468 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX ATRX-related disorder atrx_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0C Epilepsy, early-onset, 3, with or without developmental delay mondo_mondo_0958196_medgen_c5882674_omim_620465 MONDO:MONDO:0958196,MedGen:C5882674,OMIM:620465 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0C EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY epilepsy_early_onset_3_with_developmental_delay . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A1 Neurodevelopmental disorder with epilepsy and brain atrophy mondo_mondo_0859265_medgen_c5774184_omim_619971 MONDO:MONDO:0859265,MedGen:C5774184,OMIM:619971 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Ataxia - telangiectasia variant mondo_mondo_0018266_medgen_c1876175_orphanet_370109 MONDO:MONDO:0018266,MedGen:C1876175,Orphanet:370109 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Myelodysplastic syndrome mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARV1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Metachromatic leukodystrophy, juvenile type mondo_mondo_0009591_medgen_c0751276_orphanet_309263 MONDO:MONDO:0009591,MedGen:C0751276,Orphanet:309263 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARR3 Myopia 26, X-linked, female-limited mondo_mondo_0049221_medgen_c4538795_omim_301010 MONDO:MONDO:0049221,MedGen:C4538795,OMIM:301010 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARNT2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC9 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Hypospadias 1, X-linked mondo_mondo_0010384_medgen_c2678098_omim_300633_orphanet_440 MONDO:MONDO:0010384,MedGen:C2678098,OMIM:300633,Orphanet:440 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOB APOB-related disorder apob_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC2 Intellectual developmental disorder, autosomal recessive 74 mondo_mondo_0014951_medgen_c4310684_omim_617169 MONDO:MONDO:0014951,MedGen:C4310684,OMIM:617169 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5Z1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1G1 condition not provided condition_not_provided .|MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANTXR2 condition not provided condition_not_provided MedGen:C3661900 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO3 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD17 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKLE2 Microcephaly 16, primary, autosomal recessive mondo_mondo_0014730_medgen_c4225249_omim_616681_orphanet_2512 MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKH Chondrocalcinosis 2 mondo_mondo_0007319_medgen_c0856830_omim_118600_orphanet_1416 MONDO:MONDO:0007319,MedGen:C0856830,OMIM:118600,Orphanet:1416 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 Cardiac arrhythmia, ankyrin-B-related mondo_mondo_0010958_medgen_c1970119_omim_600919_orphanet_101016_orphanet_768 MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMFR Spastic paraplegia 89, autosomal recessive mondo_mondo_0957274_medgen_c5830531_omim_620379 MONDO:MONDO:0957274,MedGen:C5830531,OMIM:620379 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALX4 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Odontohypophosphatasia mondo_mondo_0016607_medgen_c1840322_orphanet_247685 MONDO:MONDO:0016607,MedGen:C1840322,Orphanet:247685 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Autosomal recessive congenital ichthyosis 2 mondo_mondo_0009439_medgen_c3888093_omim_242100_orphanet_281122_orphanet_79394 MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALKBH8 Intellectual developmental disorder, autosomal recessive 71 mondo_mondo_0032789_medgen_c5193133_omim_618504 MONDO:MONDO:0032789,MedGen:C5193133,OMIM:618504 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 ALG9-associated autosomal dominant polycystic kidney disease mondo_mondo_0700000_medgen_cn305626 MONDO:MONDO:0700000,MedGen:CN305626 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG2 Congenital myasthenic syndrome 14 mondo_mondo_0014543_medgen_c4015597_omim_616228_orphanet_353327_orphanet_590 MONDO:MONDO:0014543,MedGen:C4015597,OMIM:616228,Orphanet:353327,Orphanet:590 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Developmental and epileptic encephalopathy, 36 mondo_mondo_0010472_medgen_c4317295_omim_300884_orphanet_324422 MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDOB ALDOB-related disorder aldob_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency mondo_mondo_0013579_medgen_c3279840_omim_614105_orphanet_289307 MONDO:MONDO:0013579,MedGen:C3279840,OMIM:614105,Orphanet:289307 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH5A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIRE AIRE-related disorder aire_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT AGXT-related disorder agxt_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTR1 Renal tubular dysgenesis human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTR1 Essential hypertension, genetic mondo_mondo_0007781_medgen_cn305331_omim_145500 MONDO:MONDO:0007781,MedGen:CN305331,OMIM:145500 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGRN Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGR2 Respiratory infections, recurrent, and failure to thrive with or without diarrhea mondo_mondo_0859370_medgen_c5774306_omim_620233 MONDO:MONDO:0859370,MedGen:C5774306,OMIM:620233 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2B SPATA5L1-associated disorder spata5l1_associated_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP ADNP-related disorder adnp_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY3 ADCY3-related disorder adcy3_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADARB1 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures mondo_mondo_0030025_medgen_c5394312_omim_618862 MONDO:MONDO:0030025,MedGen:C5394312,OMIM:618862 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA2 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA2 ADA2-related disorder ada2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA ADA-related disorder ada_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL7A Spermatogenic failure 86 mondo_mondo_0957593_medgen_c5882755_omim_620499 MONDO:MONDO:0957593,MedGen:C5882755,OMIM:620499 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Chronic intestinal pseudoobstruction mondo_mondo_0017574_medgen_c0238062_orphanet_2978 MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Developmental malformations-deafness-dystonia syndrome mondo_mondo_0011823_medgen_c5848323_omim_607371_orphanet_79107 MONDO:MONDO:0011823,MedGen:C5848323,OMIM:607371,Orphanet:79107 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB ACTB-related BAFopathy actb_related_bafopathy . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB ACTB-associated syndromic thrombocytopenia mondo_mondo_0100433_medgen_c5882677_omim_620475_orphanet_674653 MONDO:MONDO:0100433,MedGen:C5882677,OMIM:620475,Orphanet:674653 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Moyamoya disease 5 mondo_mondo_0013542_medgen_c3279690_omim_614042_orphanet_2573 MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 ACTA1-related disorder acta1_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACBD6 Short stature-pituitary and cerebellar defects-small sella turcica syndrome mondo_mondo_0009880_medgen_c2678408_omim_262700_orphanet_85442 MONDO:MONDO:0009880,MedGen:C2678408,OMIM:262700,Orphanet:85442 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD16A Spastic paraplegia 86, autosomal recessive mondo_mondo_0030673_medgen_c5676910_omim_619735_orphanet_631085 MONDO:MONDO:0030673,MedGen:C5676910,OMIM:619735,Orphanet:631085 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG8 Sitosterolemia mondo_mondo_0008863_medgen_c0342907_omim_ps210250_orphanet_2882 MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB6 Dyschromatosis universalis hereditaria 3 mondo_mondo_0014169_medgen_c3809394_omim_615402 MONDO:MONDO:0014169,MedGen:C3809394,OMIM:615402 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Progressive familial intrahepatic cholestasis type 1 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 AARS2-related disorder aars2_related_disorder . 6 6 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSCAN10 Otofacial neurodevelopmental syndrome mondo_mondo_0975705_medgen_c5935642_omim_620910 MONDO:MONDO:0975705,MedGen:C5935642,OMIM:620910 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND10 ZMYND10-related disorder zmynd10_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM3 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 ZMYM2-related disorder zmym2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMIZ1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC1 Structural brain anomalies with impaired intellectual development and craniosynostosis mondo_mondo_0032892_medgen_c5231485_omim_618736 MONDO:MONDO:0032892,MedGen:C5231485,OMIM:618736 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 ZEB2-related disorder zeb2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB7A condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1AP1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YIPF5 Microcephaly, epilepsy, and diabetes syndrome 2 mondo_mondo_0025690_medgen_c5543294_omim_619278 MONDO:MONDO:0025690,MedGen:C5543294,OMIM:619278 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPR1 Basal ganglia calcification, idiopathic, 6 mondo_mondo_0014628_medgen_c4225335_omim_616413_orphanet_1980 MONDO:MONDO:0014628,MedGen:C4225335,OMIM:616413,Orphanet:1980 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX WWOX-related disorder wwox_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT7B Matthew-Wood syndrome mondo_mondo_0011010_medgen_c1832661_omim_601186_orphanet_2470 MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK4 Pseudohypoaldosteronism type 2B mondo_mondo_0013777_medgen_c1840390_omim_614491_orphanet_757_orphanet_88939 MONDO:MONDO:0013777,MedGen:C1840390,OMIM:614491,Orphanet:757,Orphanet:88939 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Prieto syndrome mondo_mondo_0010667_medgen_c1839730_omim_309610_orphanet_2958 MONDO:MONDO:0010667,MedGen:C1839730,OMIM:309610,Orphanet:2958 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WHRN Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Monogenic hearing loss monogenic_hearing_loss . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 WDR19-related disorder wdr19_related_disorder MedGen:CN380161 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR11 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR11 Intellectual developmental disorder, autosomal recessive 78 mondo_mondo_0859373_medgen_c5830269_omim_620237 MONDO:MONDO:0859373,MedGen:C5830269,OMIM:620237 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia mondo_mondo_0013926_medgen_c3540450_omim_614858_orphanet_478 MONDO:MONDO:0013926,MedGen:C3540450,OMIM:614858,Orphanet:478 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDPCP WDPCP-related disorder wdpcp_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Autosomal dominant WDFY3-related disorders autosomal_dominant_wdfy3_related_disorders . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WBP11 WBP11 spliceosomopathy wbp11_spliceosomopathy . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS53 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS4A Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome mondo_mondo_0035819_medgen_c5543287_omim_619273_orphanet_603448 MONDO:MONDO:0035819,MedGen:C5543287,OMIM:619273,Orphanet:603448 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13C Parkinson disease mondo_mondo_0005180_mesh_d010300_medgen_c0030567_omim_ps168600 MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA12 TMEM199-CDG mondo_mondo_0014790_medgen_c4225190_omim_616829_orphanet_466703 MONDO:MONDO:0014790,MedGen:C4225190,OMIM:616829,Orphanet:466703 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Charcot-Marie-Tooth disease type 2Y mondo_mondo_0014735_medgen_c5569026_omim_616687_orphanet_435387 MONDO:MONDO:0014735,MedGen:C5569026,OMIM:616687,Orphanet:435387 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UVSSA UV-sensitive syndrome 3 mondo_mondo_0013834_medgen_c3553328_omim_614640_orphanet_178338 MONDO:MONDO:0013834,MedGen:C3553328,OMIM:614640,Orphanet:178338 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UTP14C ALG11-congenital disorder of glycosylation mondo_mondo_0013349_medgen_c3150913_omim_613661_orphanet_280071 MONDO:MONDO:0013349,MedGen:C3150913,OMIM:613661,Orphanet:280071 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROC1 Urocanate hydratase deficiency human_phenotype_ontology_hp_0012237_mondo_mondo_0010167_medgen_c0268514_omim_276880_orphanet_210128 Human_Phenotype_Ontology:HP:0012237,MONDO:MONDO:0010167,MedGen:C0268514,OMIM:276880,Orphanet:210128 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC79 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCHL1 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome mondo_mondo_0014209_medgen_c3809665_omim_615491_orphanet_352654 MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491,Orphanet:352654 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR5 Neurodevelopmental disorder with speech delay and behavioral abnormalities mondo_mondo_0980700_medgen_cn380016_omim_621372 MONDO:MONDO:0980700,MedGen:CN380016,OMIM:621372 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBQLN2 Amyotrophic lateral sclerosis type 15 mondo_mondo_0010459_medgen_c3275459_omim_300857_orphanet_803 MONDO:MONDO:0010459,MedGen:C3275459,OMIM:300857,Orphanet:803 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBOX5 Mitochondrial complex IV deficiency, nuclear type 24 mondo_mondo_0980755_medgen_cn380446_omim_621431 MONDO:MONDO:0980755,MedGen:CN380446,OMIM:621431 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBOX5 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 mondo_mondo_0020749_medgen_c4721893_omim_221770_orphanet_2770 MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770,Orphanet:2770 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYMS Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 Sweeney-Cox syndrome mondo_mondo_0060592_medgen_c4540299_omim_617746 MONDO:MONDO:0060592,MedGen:C4540299,OMIM:617746 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY medgen_c4016662 MedGen:C4016662 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTLL5 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 TTC8-related disorder ttc8_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTBK2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSR2 Aarskog syndrome mondo_mondo_0010589_medgen_c0175701_omim_305400_orphanet_915 MONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400,Orphanet:915 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR TSPEAR-related disorder tspear_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN7 Intellectual disability, X-linked 58 mondo_mondo_0010266_medgen_c1846174_omim_300210_orphanet_777 MONDO:MONDO:0010266,MedGen:C1846174,OMIM:300210,Orphanet:777 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR Thyroid adenoma, hyperfunctioning, somatic medgen_c1863960 MedGen:C1863960 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV3 Olmsted syndrome 1 mondo_mondo_0100296_medgen_c5542829_omim_614594_orphanet_659 MONDO:MONDO:0100296,MedGen:C5542829,OMIM:614594,Orphanet:659 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIOBP Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 TRIM32-related disorder trim32_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM2 Charcot-Marie-Tooth disease type 2R mondo_mondo_0014208_medgen_c3809655_omim_615490_orphanet_397968 MONDO:MONDO:0014208,MedGen:C3809655,OMIM:615490,Orphanet:397968 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRHR Hypothyroidism, congenital, nongoitrous, 7 mondo_mondo_0032819_medgen_c1861106_omim_618573_orphanet_99832 MONDO:MONDO:0032819,MedGen:C1861106,OMIM:618573,Orphanet:99832 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRA2B Ramond-Elliott neurodevelopmental syndrome mondo_mondo_0980751_medgen_cn380420_omim_621421 MONDO:MONDO:0980751,MedGen:CN380420,OMIM:621421 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPRN Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 Immunodeficiency 78 with autoimmunity and developmental delay mondo_mondo_0030971_medgen_c5543159_omim_619220 MONDO:MONDO:0030971,MedGen:C5543159,OMIM:619220 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO TPO-related disorder tpo_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP73 Ciliary dyskinesia, primary, 47, and lissencephaly mondo_mondo_0030346_medgen_c5561951_omim_619466 MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53BP1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Li-fraumeni-like syndrome mondo_mondo_0800290_medgen_c2675080 MONDO:MONDO:0800290,MedGen:C2675080 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1A Early-onset generalized limb-onset dystonia mondo_mondo_0007492_medgen_c1851945_omim_128100_orphanet_256 MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100,Orphanet:256 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOPORS Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP3A Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 mondo_mondo_0020845_medgen_c4748184_omim_618098 MONDO:MONDO:0020845,MedGen:C4748184,OMIM:618098 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOMT condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT1 Nemaline myopathy 5B, autosomal recessive, childhood-onset mondo_mondo_0957281_medgen_c5830545_omim_620386 MONDO:MONDO:0957281,MedGen:C5830545,OMIM:620386 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 TNNI3-related disorder tnni3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFSF11 Autosomal recessive osteopetrosis 2 mondo_mondo_0009816_medgen_c1850126_omim_259710_orphanet_667 MONDO:MONDO:0009816,MedGen:C1850126,OMIM:259710,Orphanet:667 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF13B TNFRSF13B-related disorder tnfrsf13b_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF11B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS6 TMPRSS6-related disorder tmprss6_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPPE condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM94 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM63B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM38B Osteogenesis imperfecta type 14 mondo_mondo_0014029_medgen_c3554428_omim_615066_orphanet_666 MONDO:MONDO:0014029,MedGen:C3554428,OMIM:615066,Orphanet:666 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM237 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM222 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities mondo_mondo_0859176_medgen_c5561954_omim_619470 MONDO:MONDO:0859176,MedGen:C5561954,OMIM:619470 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM107 Meckel syndrome 13 mondo_mondo_0033044_medgen_c4539714_omim_617562 MONDO:MONDO:0033044,MedGen:C4539714,OMIM:617562 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC6 Epidermodysplasia verruciformis, susceptibility to, 1 mondo_mondo_0100045_medgen_c4722564_omim_226400_orphanet_302 MONDO:MONDO:0100045,MedGen:C4722564,OMIM:226400,Orphanet:302 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR8 Immunodeficiency 98 with autoinflammation, X-linked mondo_mondo_0024777_medgen_c5676883_omim_301078_orphanet_675628 MONDO:MONDO:0024777,MedGen:C5676883,OMIM:301078,Orphanet:675628 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLE6 Preimplantation embryonic lethality 1 medgen_c4225197_omim_616814 MedGen:C4225197,OMIM:616814 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TKT Transketolase deficiency mondo_mondo_0014881_medgen_c5700245_omim_617044_orphanet_488618 MONDO:MONDO:0014881,MedGen:C5700245,OMIM:617044,Orphanet:488618 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMP3 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIAM1 Neurodevelopmental disorder with language delay and seizures mondo_mondo_0859256_medgen_c5676998_omim_619908 MONDO:MONDO:0859256,MedGen:C5676998,OMIM:619908 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THUMPD1 Neurodevelopmental disorder with speech delay and variable ocular anomalies mondo_mondo_0859272_medgen_c5774194_omim_619989 MONDO:MONDO:0859272,MedGen:C5774194,OMIM:619989 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Thyroid hormone resistance, generalized, autosomal recessive mondo_mondo_0010131_medgen_c3489796_omim_274300 MONDO:MONDO:0010131,MedGen:C3489796,OMIM:274300 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Generalized resistance to thyroid hormone human_phenotype_ontology_hp_0002930_human_phenotype_ontology_hp_0008215_human_phenotype_ontology_hp_0008243_human_phenotype_ontology_hp_0008262_mondo_mondo_0009043_medgen_c4722330_orphanet_596426 Human_Phenotype_Ontology:HP:0002930,Human_Phenotype_Ontology:HP:0008215,Human_Phenotype_Ontology:HP:0008243,Human_Phenotype_Ontology:HP:0008262,MONDO:MONDO:0009043,MedGen:C4722330,Orphanet:596426 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THPO Amegakaryocytic thrombocytopenia, congenital, 2 mondo_mondo_0957575_medgen_c5882679_omim_620481 MONDO:MONDO:0957575,MedGen:C5882679,OMIM:620481 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGIF1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB3 Arrhythmogenic right ventricular dysplasia 1 mondo_mondo_0007152_medgen_c1862511_omim_107970_orphanet_3403 MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 Immunodeficiency 75 mondo_mondo_0030858_medgen_c5436860_omim_619126_orphanet_664729 MONDO:MONDO:0030858,MedGen:C5436860,OMIM:619126,Orphanet:664729 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Telomere syndrome mondo_mondo_0100137_medgen_c4727832 MONDO:MONDO:0100137,MedGen:C4727832 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA TECTA-related disorder tecta_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDP2 Spinocerebellar ataxia, autosomal recessive 23 mondo_mondo_0014846_medgen_c4750914_omim_616949_orphanet_404493 MONDO:MONDO:0014846,MedGen:C4750914,OMIM:616949,Orphanet:404493 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 TCF12-related disorder tcf12_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA hypogonadotropic_hypogonadism_26_with_anosmia . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCEAL1 condition not provided condition_not_provided . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Pulmonary arterial hypertension associated with congenital heart disease medgen_c3697119_orphanet_275803 MedGen:C3697119,Orphanet:275803 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX18 Congenital anomalies of kidney and urinary tract 2 mondo_mondo_0027676_medgen_c5574705_omim_143400_orphanet_2190 MONDO:MONDO:0027676,MedGen:C5574705,OMIM:143400,Orphanet:2190 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 TBK1-related disorder tbk1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK TBCK-related disorder tbck_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D7 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D20 Warburg micro syndrome 4 mondo_mondo_0014296_medgen_c3810265_omim_615663_orphanet_2510 MONDO:MONDO:0014296,MedGen:C3810265,OMIM:615663,Orphanet:2510 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPT1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 TAOK1-related disorder taok1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES intellectual_developmental_disorder_with_autistic_features_and_language_delay_without_seizures . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAMM41 Combined oxidative phosphorylation deficiency 56 mondo_mondo_0859323_medgen_c5774261_omim_620139 MONDO:MONDO:0859323,MedGen:C5774261,OMIM:620139 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF8 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy mondo_mondo_0859266_medgen_c5774185_omim_619972 MONDO:MONDO:0859266,MedGen:C5774185,OMIM:619972 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SZT2 SZT2-related disorder szt2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT2 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive mondo_mondo_0030341_medgen_c5561947_omim_619461 MONDO:MONDO:0030341,MedGen:C5561947,OMIM:619461 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT1 SYT1-associated neurodevelopmental disorder syt1_associated_neurodevelopmental_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE4 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCP2 Oligosynaptic infertility mondo_mondo_0009776_medgen_c0403810_omim_258150 MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 SURF1-related disorder surf1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STT3A Congenital disorder of glycosylation, type Iw, autosomal dominant mondo_mondo_0859223_medgen_c5562068_omim_619714 MONDO:MONDO:0859223,MedGen:C5562068,OMIM:619714 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIM1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STEEP1 Intellectual disability, X-linked 107 mondo_mondo_0049222_medgen_c4692652_omim_301013 MONDO:MONDO:0049222,MedGen:C4692652,OMIM:301013 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT1 STAT1-related disorder stat1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Spermatogenic failure 61 mondo_mondo_0030507_medgen_c5562048_omim_619672 MONDO:MONDO:0030507,MedGen:C5562048,OMIM:619672 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Intellectual disability, autosomal recessive 12 mondo_mondo_0012612_medgen_c1970200_omim_611090_orphanet_88616 MONDO:MONDO:0012612,MedGen:C1970200,OMIM:611090,Orphanet:88616 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A2 SRD5A2-related disorder srd5a2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 Paget disease of bone 3 mondo_mondo_0008176_medgen_c4085252_omim_167250 MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 Neurofibromatosis, type 1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOP condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPIDR Ovarian dysgenesis 9 mondo_mondo_0030506_medgen_c5562046_omim_619665 MONDO:MONDO:0030506,MedGen:C5562046,OMIM:619665 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG21 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 Retinitis pigmentosa 94, variable age at onset mondo_mondo_0800328_medgen_c5676889 MONDO:MONDO:0800328,MedGen:C5676889 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX4 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOST Sclerosteosis 1 mondo_mondo_0010016_medgen_c4551483_omim_269500_orphanet_3152 MONDO:MONDO:0010016,MedGen:C4551483,OMIM:269500,Orphanet:3152 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS2 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 SOS1-related disorder sos1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 Motor neuron disease mondo_mondo_0020128_medgen_c0085084_orphanet_98503 MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNCA Autosomal dominant Parkinson disease 1 mondo_mondo_0008200_medgen_c1868595_omim_168601 MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAPIN condition not provided condition_not_provided . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAPIN Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities mondo_mondo_0980710_medgen_cn380058_omim_621393 MONDO:MONDO:0980710,MedGen:CN380058,OMIM:621393 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD4 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMOC1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Scapulohumeral muscular dystrophy human_phenotype_ontology_hp_0008970_mondo_mondo_0010884_medgen_c0410192_omim_600416_orphanet_269 Human_Phenotype_Ontology:HP:0008970,MONDO:MONDO:0010884,MedGen:C0410192,OMIM:600416,Orphanet:269 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A SMC1A-related disorder smc1a_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC1 Hydrocephalus, congenital, 5, susceptibility to mondo_mondo_0859376_medgen_c5830272_omim_620241 MONDO:MONDO:0859376,MedGen:C5830272,OMIM:620241 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Craniosynostosis 7 mondo_mondo_0044315_medgen_c4479496_omim_617439 MONDO:MONDO:0044315,MedGen:C4479496,OMIM:617439 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK6 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A19 Hyperglycinuria human_phenotype_ontology_hp_0002931_human_phenotype_ontology_hp_0003108_mondo_mondo_0007677_medgen_c0543541_omim_138500 Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A6 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A2 SLC5A2-related disorder slc5a2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A1 SLC5A1-related disorder slc5a1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A7 Agammaglobulinemia 9, autosomal recessive mondo_mondo_0030519_medgen_c5562059_omim_619693_orphanet_693627 MONDO:MONDO:0030519,MedGen:C5562059,OMIM:619693,Orphanet:693627 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A2 non-lesional focal epilepsy non_lesional_focal_epilepsy . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A3 SLC34A3-related disorder slc34a3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 SLC34A1-related disorder slc34a1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC27A4 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A3 SLC26A3-related disorder slc26a3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A22 Early myoclonic encephalopathy medgen_c0270855 MedGen:C0270855 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A20 SLC25A20-related disorder slc25a20_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A11 Pheochromocytoma/paraganglioma syndrome 6 mondo_mondo_0032767_medgen_c5193112_omim_618464 MONDO:MONDO:0032767,MedGen:C5193112,OMIM:618464 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A1 D,L-2-hydroxyglutaric aciduria mondo_mondo_0014072_medgen_c5574940_omim_615182_orphanet_356978 MONDO:MONDO:0014072,MedGen:C5574940,OMIM:615182,Orphanet:356978 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A8 Autosomal dominant nonsyndromic hearing loss 25 mondo_mondo_0011568_medgen_c1854158_omim_605583_orphanet_90635 MONDO:MONDO:0011568,MedGen:C1854158,OMIM:605583,Orphanet:90635 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A9 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 SLC12A2-related disorder slc12a2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 Kilquist syndrome mondo_mondo_0033664_medgen_c5436756_omim_619080_orphanet_633021 MONDO:MONDO:0033664,MedGen:C5436756,OMIM:619080,Orphanet:633021 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIRT4 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOX SHOX-related disorder shox_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOX Langer mesomelic dysplasia syndrome mondo_mondo_0009588_medgen_c0432230_omim_249700_orphanet_2632 MONDO:MONDO:0009588,MedGen:C0432230,OMIM:249700,Orphanet:2632 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3BP2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2D1A condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPA2 Interstitial lung disease 2 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPING1 Hereditary C1 esterase inhibitor deficiency - dysfunctional factor mondo_mondo_0015054_medgen_c0398776_orphanet_100051 MONDO:MONDO:0015054,MedGen:C0398776,Orphanet:100051 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC Carney-Stratakis syndrome mondo_mondo_0011740_medgen_c1847319_omim_606864_orphanet_97286 MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCYL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1G Liddle syndrome 2 mondo_mondo_0020854_medgen_c4748251_omim_618114 MONDO:MONDO:0020854,MedGen:C4748251,OMIM:618114 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Epilepsy, familial focal, with variable foci 4 mondo_mondo_0054776_medgen_c4693694_omim_617935 MONDO:MONDO:0054776,MedGen:C4693694,OMIM:617935 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Infantile spasms human_phenotype_ontology_hp_0012469_medgen_c3887898 Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Epilepsy of infancy with migrating focal seizures mondo_mondo_0100025_medgen_c4518639 MONDO:MONDO:0100025,MedGen:C4518639 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Generalized epilepsy with febrile seizures plus, type 1 mondo_mondo_0011416_medgen_c1858672_omim_604233_orphanet_36387 MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A SCN1A Seizure Disorders scn1a_seizure_disorders . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN11A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN11A Familial episodic pain syndrome with predominantly lower limb involvement mondo_mondo_0014247_medgen_c3809899_omim_615552_orphanet_391384_orphanet_391392 MONDO:MONDO:0014247,MedGen:C3809899,OMIM:615552,Orphanet:391384,Orphanet:391392 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCARB2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAMP4 Intellectual disability-strabismus syndrome mondo_mondo_0014119_medgen_c4750838_omim_615286_orphanet_363528 MONDO:MONDO:0014119,MedGen:C4750838,OMIM:615286,Orphanet:363528 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SC5D Lathosterolosis mondo_mondo_0011816_medgen_c1846421_omim_607330_orphanet_46059 MONDO:MONDO:0011816,MedGen:C1846421,OMIM:607330,Orphanet:46059 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 SATB2 associated disorder mondo_mondo_0100147_medgen_cn294806_orphanet_576278 MONDO:MONDO:0100147,MedGen:CN294806,Orphanet:576278 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARM1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARM1 Congenital defect of folate absorption mondo_mondo_0009238_medgen_c0342705_omim_229050_orphanet_90045 MONDO:MONDO:0009238,MedGen:C0342705,OMIM:229050,Orphanet:90045 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9L Ataxia-pancytopenia syndrome mondo_mondo_0008038_medgen_c1327919_omim_159550_orphanet_2585 MONDO:MONDO:0008038,MedGen:C1327919,OMIM:159550,Orphanet:2585 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL4 SALL4-related disorder sall4_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG Retinitis pigmentosa 47 mondo_mondo_0013407_medgen_c3151061_omim_613758_orphanet_791 MONDO:MONDO:0013407,MedGen:C3151061,OMIM:613758,Orphanet:791 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUSC2 Intellectual disability, autosomal recessive 61 mondo_mondo_0030915_medgen_c4540424_omim_617773 MONDO:MONDO:0030915,MedGen:C4540424,OMIM:617773 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN2 Hereditary spastic paraplegia 12 mondo_mondo_0011489_medgen_c1858106_omim_604805_orphanet_100993 MONDO:MONDO:0011489,MedGen:C1858106,OMIM:604805,Orphanet:100993 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAS2 Noonan syndrome 12 mondo_mondo_0032839_medgen_c5231432_omim_618624 MONDO:MONDO:0032839,MedGen:C5231432,OMIM:618624 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KC1 Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter mondo_mondo_0980947_medgen_cn380793_omim_621460 MONDO:MONDO:0980947,MedGen:CN380793,OMIM:621460 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 RPS6KA3-related disorder rps6ka3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS17 Diamond-Blackfan anemia 4 mondo_mondo_0012924_medgen_c2675860_omim_612527_orphanet_124 MONDO:MONDO:0012924,MedGen:C2675860,OMIM:612527,Orphanet:124 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS10 Diamond-Blackfan anemia 9 mondo_mondo_0013216_medgen_c2750081_omim_613308_orphanet_124 MONDO:MONDO:0013216,MedGen:C2750081,OMIM:613308,Orphanet:124 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS10 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL3L Cardiomyopathy, dilated, 2D mondo_mondo_0030300_medgen_c5543535_omim_619371 MONDO:MONDO:0030300,MedGen:C5543535,OMIM:619371 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL26 Diamond-Blackfan anemia 11 mondo_mondo_0013964_medgen_c3554042_omim_614900_orphanet_124 MONDO:MONDO:0013964,MedGen:C3554042,OMIM:614900,Orphanet:124 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL10 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL10 Intellectual disability, X-linked, syndromic, 35 mondo_mondo_0030908_medgen_c4478383_omim_300998 MONDO:MONDO:0030908,MedGen:C4478383,OMIM:300998 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROGDI condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO4 Aortic valve disease 3 mondo_mondo_0032783_medgen_c5193127_omim_618496 MONDO:MONDO:0032783,MedGen:C5193127,OMIM:618496 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU7-1 Aicardi-Goutieres syndrome 9 mondo_mondo_0030362_medgen_c5561966_omim_619487 MONDO:MONDO:0030362,MedGen:C5561966,OMIM:619487 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF170 Spastic paraplegia 85, autosomal recessive mondo_mondo_0030512_medgen_c5562053_omim_619686_orphanet_631082 MONDO:MONDO:0030512,MedGen:C5562053,OMIM:619686,Orphanet:631082 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF17 Seckel syndrome 4 mondo_mondo_0013358_medgen_c3888212_omim_613676_orphanet_808 MONDO:MONDO:0013358,MedGen:C3888212,OMIM:613676,Orphanet:808 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF13 Developmental and epileptic encephalopathy, 73 mondo_mondo_0034106_medgen_c5193065_omim_618379_orphanet_544503 MONDO:MONDO:0034106,MedGen:C5193065,OMIM:618379,Orphanet:544503 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2A RNASEH2A-related disorder rnaseh2a_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2A Aicardi Goutieres syndrome mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMRP RMRP-related disorder rmrp_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 CEP290-related disorder cep290_related_disorder MedGen:CN239314 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK1 Immunodeficiency 57 mondo_mondo_0020849_medgen_c4748212_omim_618108 MONDO:MONDO:0020849,MedGen:C4748212,OMIM:618108 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIN2 RIN2 syndrome mondo_mondo_0013115_medgen_c2751321_omim_613075_orphanet_217335 MONDO:MONDO:0013115,MedGen:C2751321,OMIM:613075,Orphanet:217335 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHAG Overhydrated hereditary stomatocytosis mondo_mondo_0008493_medgen_c1861455_omim_185000_orphanet_3203 MONDO:MONDO:0008493,MedGen:C1861455,OMIM:185000,Orphanet:3203 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX5 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REST Fibromatosis, gingival, 5 mondo_mondo_0033493_medgen_c4539942_omim_617626 MONDO:MONDO:0033493,MedGen:C4539942,OMIM:617626 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELT Amelogenesis imperfecta, type 3C mondo_mondo_0032717_medgen_c5193069_omim_618386 MONDO:MONDO:0032717,MedGen:C5193069,OMIM:618386 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REL condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP2 Hereditary spastic paraplegia 72 mondo_mondo_0014282_medgen_c5882669_omim_615625_orphanet_401849 MONDO:MONDO:0014282,MedGen:C5882669,OMIM:615625,Orphanet:401849 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM28 ANE syndrome mondo_mondo_0012794_medgen_c2677535_omim_612079_orphanet_157954 MONDO:MONDO:0012794,MedGen:C2677535,OMIM:612079,Orphanet:157954 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALA condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Inherited ovarian cancer (without breast cancer) inherited_ovarian_cancer_without_breast_cancer . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Martsolf syndrome 2 mondo_mondo_0030376_medgen_c5543626_omim_619420 MONDO:MONDO:0030376,MedGen:C5543626,OMIM:619420 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB39B Intellectual disability, X-linked 72 mondo_mondo_0010289_medgen_c1846038_omim_300271_orphanet_777 MONDO:MONDO:0010289,MedGen:C1846038,OMIM:300271,Orphanet:777 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33B condition not provided condition_not_provided .|MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Spondyloepimetaphyseal dysplasia, Bieganski type mondo_mondo_0010275_medgen_c1846148_omim_300232_orphanet_168448_orphanet_83629 MONDO:MONDO:0010275,MedGen:C1846148,OMIM:300232,Orphanet:168448,Orphanet:83629 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Combined oxidative phosphorylation deficiency mondo_mondo_0000732_medgen_c4540031_omim_ps609060 MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Charcot-Marie-Tooth Neuropathy X charcot_marie_tooth_neuropathy_x MedGen:CN118851 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB27A RAB27A-related disorder rab27a_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB27A Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRSL1 Combined oxidative phosphorylation deficiency 40 mondo_mondo_0030006_medgen_c5394232_omim_618835_orphanet_570491 MONDO:MONDO:0030006,MedGen:C5394232,OMIM:618835,Orphanet:570491 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 PYCR1-related disorder pycr1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS10 Peroxisome biogenesis disorder 11A (Zellweger) mondo_mondo_0013949_medgen_c3554000_omim_614883_orphanet_912 MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883,Orphanet:912 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA PURA Syndrome medgen_c4708498 MedGen:C4708498 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome mondo_mondo_0034989_medgen_c5568572_orphanet_508498 MONDO:MONDO:0034989,MedGen:C5568572,Orphanet:508498 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRH2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRO condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRO Nephrotic syndrome, type 6 mondo_mondo_0013619_medgen_c3280100_omim_614196_orphanet_656 MONDO:MONDO:0013619,MedGen:C3280100,OMIM:614196,Orphanet:656 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRA Dystonia 30 mondo_mondo_0025691_medgen_c5543312_omim_619291 MONDO:MONDO:0025691,MedGen:C5543312,OMIM:619291 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH1R Eiken syndrome mondo_mondo_0010803_medgen_c1838779_omim_600002_orphanet_79106 MONDO:MONDO:0010803,MedGen:C1838779,OMIM:600002,Orphanet:79106 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Bannayan-Riley-Ruvalcaba syndrome mondo_mondo_0007924_medgen_c0265326_orphanet_109 MONDO:MONDO:0007924,MedGen:C0265326,Orphanet:109 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Autosomal dominant PTEN-related disorders autosomal_dominant_pten_related_disorders . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMG2 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB10 Proteasome-associated autoinflammatory syndrome 5 mondo_mondo_0030924_medgen_c5543027_omim_619175 MONDO:MONDO:0030924,MedGen:C5543027,OMIM:619175 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Dilated cardiomyopathy 1U mondo_mondo_0013371_medgen_c3160720_omim_613694_orphanet_154 MONDO:MONDO:0013371,MedGen:C3160720,OMIM:613694,Orphanet:154 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRX1 Agnathia-otocephaly complex mondo_mondo_0008740_medgen_c0265242_omim_202650_orphanet_990 MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650,Orphanet:990 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 PRRT2-related disorder prrt2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF8 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF3 Retinitis pigmentosa 18 mondo_mondo_0011075_medgen_c1832378_omim_601414_orphanet_791 MONDO:MONDO:0011075,MedGen:C1832378,OMIM:601414,Orphanet:791 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROS1 PROS1-related disorder pros1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROP1 Combined pituitary hormone deficiencies, genetic form mondo_mondo_0013099_medgen_c4273747_omim_ps613038_orphanet_95494 MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038,Orphanet:95494 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKRA Dystonia 16 mondo_mondo_0012789_medgen_c2677567_omim_612067_orphanet_210571 MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Familial atrial myxoma mondo_mondo_0009719_medgen_c2931787_omim_255960_orphanet_615 MONDO:MONDO:0009719,MedGen:C2931787,OMIM:255960,Orphanet:615 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 PRF1-related disorder prf1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRCD Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP3CA Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development mondo_mondo_0032642_medgen_c4748872_omim_618265_orphanet_565858 MONDO:MONDO:0032642,MedGen:C4748872,OMIM:618265,Orphanet:565858 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R13L Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1D Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPIL1 Pontocerebellar hypoplasia, type 14 mondo_mondo_0030258_medgen_c5543322_omim_619301_orphanet_613274 MONDO:MONDO:0030258,MedGen:C5543322,OMIM:619301,Orphanet:613274 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPA2 Sudden cardiac failure, alcohol-induced mondo_mondo_0014974_medgen_c4310663_omim_617223 MONDO:MONDO:0014974,MedGen:C4310663,OMIM:617223 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POPDC1 Autosomal recessive limb-girdle muscular dystrophy type 2X mondo_mondo_0014782_medgen_c5568138_omim_616812_orphanet_476084 MONDO:MONDO:0014782,MedGen:C5568138,OMIM:616812,Orphanet:476084 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Myopathy caused by variation in POMGNT1 mondo_mondo_0700068_medgen_cn305639 MONDO:MONDO:0700068,MedGen:CN305639 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1D condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1C POLR1C-related disorder mondo_mondo_0700278_medgen_cn239394 MONDO:MONDO:0700278,MedGen:CN239394 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Spinocerebellar ataxia with epilepsy mondo_mondo_0016809_medgen_c1843852_orphanet_254881 MONDO:MONDO:0016809,MedGen:C1843852,Orphanet:254881 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency mondo_mondo_0032684_medgen_c5193036_omim_618336 MONDO:MONDO:0032684,MedGen:C5193036,OMIM:618336 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ POGZ-related disorder pogz_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POFUT1 Dowling-Degos disease 2 mondo_mondo_0014130_medgen_c3809147_omim_615327_orphanet_79145 MONDO:MONDO:0014130,MedGen:C3809147,OMIM:615327,Orphanet:79145 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1B Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Laurence-Moon syndrome mondo_mondo_0009514_medgen_c0023138_omim_245800_orphanet_2377 MONDO:MONDO:0009514,MedGen:C0023138,OMIM:245800,Orphanet:2377 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXND1 Congenital heart defects, multiple types, 9 mondo_mondo_0859532_medgen_c5830367_omim_620294 MONDO:MONDO:0859532,MedGen:C5830367,OMIM:620294 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXNA1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLK4 Microcephaly and chorioretinopathy 2 mondo_mondo_0014516_medgen_c4015388_omim_616171_orphanet_808 MONDO:MONDO:0014516,MedGen:C4015388,OMIM:616171,Orphanet:808 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Auriculocondylar syndrome 1 mondo_mondo_0011234_medgen_c4551996_omim_602483_orphanet_137888 MONDO:MONDO:0011234,MedGen:C4551996,OMIM:602483,Orphanet:137888 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G4A Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder mondo_mondo_0018794_medgen_c5567651_omim_618372_orphanet_477787 MONDO:MONDO:0018794,MedGen:C5567651,OMIM:618372,Orphanet:477787 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Polycystic kidney disease 3 with or without polycystic liver disease mondo_mondo_0010916_medgen_c3887964_omim_600666 MONDO:MONDO:0010916,MedGen:C3887964,OMIM:600666 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX1 Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIP5K1C condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD Immunodeficiency 14b, autosomal recessive mondo_mondo_0023655_medgen_c5543301_omim_619281 MONDO:MONDO:0023655,MedGen:C5543301,OMIM:619281 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Seborrheic keratosis human_phenotype_ontology_hp_0031287_mondo_mondo_0008420_medgen_c0022603_omim_182000 Human_Phenotype_Ontology:HP:0031287,MONDO:MONDO:0008420,MedGen:C0022603,OMIM:182000 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Epidermal nevus human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGV condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 PHKA2-related disorder phka2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA1 Glycogen phosphorylase kinase deficiency mondo_mondo_0700291_medgen_c0268147_orphanet_370 MONDO:MONDO:0700291,MedGen:C0268147,Orphanet:370 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF3 EYS-related disorder eys_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM3 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM2L1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM2L1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities mondo_mondo_0859347_medgen_c5774285_omim_620191 MONDO:MONDO:0859347,MedGen:C5774285,OMIM:620191 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGK1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFAS Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX13 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX13 Peroxisome biogenesis disorder 11B mondo_mondo_0013950_medgen_c3554001_omim_614885_orphanet_44 MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885,Orphanet:44 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX11B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PERCC1 Diarrhea 11, malabsorptive, congenital mondo_mondo_0032857_medgen_c5231449_omim_618662 MONDO:MONDO:0032857,MedGen:C5231449,OMIM:618662 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 Pancreatic agenesis 1 mondo_mondo_0024547_medgen_c3891828_omim_260370_orphanet_2805 MONDO:MONDO:0024547,MedGen:C3891828,OMIM:260370,Orphanet:2805 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDSS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRA Gastrointestinal stromal tumor human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE8B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 PDCD10-related disorder pdcd10_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK9 Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCCB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX8 Congenital hypothyroidism human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX7 Myopathy, congenital, progressive, with scoliosis mondo_mondo_0032821_medgen_c5231417_omim_618578 MONDO:MONDO:0032821,MedGen:C5231417,OMIM:618578 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Craniofacial-deafness-hand syndrome mondo_mondo_0007395_medgen_c1852510_omim_122880_orphanet_1529 MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAN2 Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies mondo_mondo_0980727_medgen_cn380173_omim_621384 MONDO:MONDO:0980727,MedGen:CN380173,OMIM:621384 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HTM condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 OTX2-related disorder otx2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSMR Amyloidosis, primary localized cutaneous, 1 mondo_mondo_0024522_medgen_c4551501_omim_105250_orphanet_353220 MONDO:MONDO:0024522,MedGen:C4551501,OMIM:105250,Orphanet:353220 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSBPL2 Autosomal dominant nonsyndromic hearing loss 67 mondo_mondo_0014594_medgen_c4084712_omim_616340_orphanet_90635 MONDO:MONDO:0014594,MedGen:C4084712,OMIM:616340,Orphanet:90635 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPN1LW condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA3 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) mondo_mondo_0014820_medgen_c4225163_omim_616896 MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OLFML2B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OGDH Oxoglutaricaciduria mondo_mondo_0008759_medgen_c2752074_omim_203740_orphanet_31 MONDO:MONDO:0008759,MedGen:C2752074,OMIM:203740,Orphanet:31 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NXN condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK2 Obesity, hyperphagia, and developmental delay mondo_mondo_0013483_medgen_c3151303_omim_613886 MONDO:MONDO:0013483,MedGen:C3151303,OMIM:613886 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTNG2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSMCE2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Disorder of sexual differentiation mondo_mondo_0002145_medgen_c2930619_orphanet_90771 MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Goldmann-Favre syndrome mondo_mondo_0100289_medgen_c0339541_orphanet_53540 MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 NPHP1-related disorder nphp1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG Brachydactyly type B2 mondo_mondo_0012658_medgen_c1969652_omim_611377_orphanet_140908 MONDO:MONDO:0012658,MedGen:C1969652,OMIM:611377,Orphanet:140908 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOD2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOBOX Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis mondo_mondo_0031007_medgen_c5543257_omim_619260_orphanet_611207 MONDO:MONDO:0031007,MedGen:C5543257,OMIM:619260,Orphanet:611207 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Hearing loss, autosomal dominant 34, with or without inflammation mondo_mondo_0033261_medgen_c4521680_omim_617772 MONDO:MONDO:0033261,MedGen:C4521680,OMIM:617772 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRC4 Familial cold autoinflammatory syndrome 4 mondo_mondo_0014498_medgen_c4015276_omim_616115_orphanet_47045_orphanet_576349 MONDO:MONDO:0014498,MedGen:C4015276,OMIM:616115,Orphanet:47045,Orphanet:576349 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX3-2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPSNAP3B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFU1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Optic nerve glioma human_phenotype_ontology_hp_0009734_mondo_mondo_0003235_medgen_c0346326 Human_Phenotype_Ontology:HP:0009734,MONDO:MONDO:0003235,MedGen:C0346326 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROD2 Developmental and epileptic encephalopathy, 72 mondo_mondo_0032710_medgen_c5193063_omim_618374 MONDO:MONDO:0032710,MedGen:C5193063,OMIM:618374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK9 NEK9-related lethal skeletal dysplasia mondo_mondo_0014870_medgen_c5568141_omim_617022_orphanet_464366 MONDO:MONDO:0014870,MedGen:C5568141,OMIM:617022,Orphanet:464366 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF8 Mitochondrial complex I deficiency, nuclear type 34 mondo_mondo_0032910_medgen_c5394053_omim_618776 MONDO:MONDO:0032910,MedGen:C5394053,OMIM:618776 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA6 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA6 Mitochondrial complex I deficiency, nuclear type 33 mondo_mondo_0032636_medgen_c4748840_omim_618253 MONDO:MONDO:0032636,MedGen:C4748840,OMIM:618253 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA13 Mitochondrial complex I deficiency, nuclear type 28 mondo_mondo_0032632_medgen_c4748827_omim_618249 MONDO:MONDO:0032632,MedGen:C4748827,OMIM:618249 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDNF Hypogonadotropic hypogonadism 25 with anosmia mondo_mondo_0030010_medgen_c5394246_omim_618841 MONDO:MONDO:0030010,MedGen:C5394246,OMIM:618841 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS NBAS-related disorder nbas_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NADSYN1 Congenital NAD deficiency disorder congenital_nad_deficiency_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NACC1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOD1 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies mondo_mondo_0033548_medgen_c5436530_omim_618975 MONDO:MONDO:0033548,MedGen:C5436530,OMIM:618975 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOCD Megabladder, congenital mondo_mondo_0032879_medgen_c5231472_omim_618719 MONDO:MONDO:0032879,MedGen:C5231472,OMIM:618719 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Left ventricular noncompaction human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Hypertrophic cardiomyopathy 14 mondo_mondo_0013197_medgen_c2750467_omim_613251 MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYD88 Pyogenic bacterial infections due to MyD88 deficiency mondo_mondo_0012839_medgen_c2677092_omim_612260_orphanet_183713 MONDO:MONDO:0012839,MedGen:C2677092,OMIM:612260,Orphanet:183713 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC1 Myopathy, congenital, with tremor mondo_mondo_0032797_medgen_c5231401_omim_618524 MONDO:MONDO:0032797,MedGen:C5231401,OMIM:618524 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVD Porokeratosis 7, multiple types mondo_mondo_0013868_medgen_c3553549_omim_614714 MONDO:MONDO:0013868,MedGen:C3553549,OMIM:614714 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Neoplasm of stomach human_phenotype_ontology_hp_0006753_mondo_mondo_0021085_medgen_c0038356 Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Familial colorectal cancer mondo_mondo_0023113_medgen_cn280943 MONDO:MONDO:0023113,MedGen:CN280943 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR10 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFS Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination mondo_mondo_0032705_medgen_c5193057_omim_618367_orphanet_597874 MONDO:MONDO:0032705,MedGen:C5193057,OMIM:618367,Orphanet:597874 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS34 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL49 Combined oxidative phosphorylation deficiency 60 mondo_mondo_0978298_medgen_c6012722_omim_621195 MONDO:MONDO:0978298,MedGen:C6012722,OMIM:621195 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPO condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPO MPO-related disorder mpo_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPDU1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNX1 MNX1-related disorder mnx1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MN1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLPH condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Waardenburg syndrome type 2 mondo_mondo_0019517_medgen_c2700265_orphanet_895 MONDO:MONDO:0019517,MedGen:C2700265,Orphanet:895 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF MITF-related disorder mitf_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness mondo_mondo_0015014_medgen_c4310625_omim_617306_orphanet_603494 MONDO:MONDO:0015014,MedGen:C4310625,OMIM:617306,Orphanet:603494 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL23 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Renal cell carcinoma human_phenotype_ontology_hp_0005584_human_phenotype_ontology_hp_0006720_mondo_mondo_0005086_mesh_d002292_medgen_c0007134_orphanet_217071 Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MESD Osteogenesis imperfecta, type 20 mondo_mondo_0032846_medgen_c5231439_omim_618644 MONDO:MONDO:0032846,MedGen:C5231439,OMIM:618644 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEI1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 MED12-related intellectual disability syndrome mondo_mondo_0100000_medgen_cn305246 MONDO:MONDO:0100000,MedGen:CN305246 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECR Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECR Childhood Onset Dystonias medgen_c0752202 MedGen:C0752202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM Radioulnar synostosis human_phenotype_ontology_hp_0002974_human_phenotype_ontology_hp_0003962_mondo_mondo_0017985_medgen_c0158761_orphanet_3269 Human_Phenotype_Ontology:HP:0002974,Human_Phenotype_Ontology:HP:0003962,MONDO:MONDO:0017985,MedGen:C0158761,Orphanet:3269 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDH2 Developmental and epileptic encephalopathy, 51 mondo_mondo_0015025_medgen_c4479208_omim_617339 MONDO:MONDO:0015025,MedGen:C4479208,OMIM:617339 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCIDAS Ciliary dyskinesia, primary, 42 mondo_mondo_0032872_medgen_c5231464_omim_618695 MONDO:MONDO:0032872,MedGen:C5231464,OMIM:618695 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD4 MBD4-related disorder mbd4_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAX condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN3 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN3 Multiple epiphyseal dysplasia human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAST3 Developmental and epileptic encephalopathy 108 mondo_mondo_0859314_medgen_c5774253_omim_620115 MONDO:MONDO:0859314,MedGen:C5774253,OMIM:620115 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAST1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARK2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Progressive supranuclear palsy-parkinsonism syndrome mondo_mondo_0009839_medgen_c1850077_omim_260540_orphanet_240085_orphanet_683_orphanet_99750 MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540,Orphanet:240085,Orphanet:683,Orphanet:99750 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K1 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B MAP1B-related disorder map1b_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B1 MAN2B1-related disorder man2b1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYRM7 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSS Cataract 44 mondo_mondo_0014673_medgen_c4225300_omim_616509_orphanet_91492_orphanet_98994 MONDO:MONDO:0014673,MedGen:C4225300,OMIM:616509,Orphanet:91492,Orphanet:98994 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Lip and oral cavity carcinoma mondo_mondo_0023644_medgen_c0220641 MONDO:MONDO:0023644,MedGen:C0220641 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Ciliary dyskinesia, primary, 39 mondo_mondo_0032637_medgen_c4748841_omim_618254 MONDO:MONDO:0032637,MedGen:C4748841,OMIM:618254 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Muscular dystrophy, congenital, with or without seizures mondo_mondo_0859336_medgen_c5774274_omim_620166 MONDO:MONDO:0859336,MedGen:C5774274,OMIM:620166 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LORICRIN Loricrin keratoderma mondo_mondo_0011396_medgen_c1858805_omim_604117_orphanet_79395 MONDO:MONDO:0011396,MedGen:C1858805,OMIM:604117,Orphanet:79395 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB1 Syndrome with microcephaly as major feature medgen_c5680774_orphanet_269528 MedGen:C5680774,Orphanet:269528 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Laminopathy mondo_mondo_0021106_medgen_c5392094_orphanet_98301 MONDO:MONDO:0021106,MedGen:C5392094,Orphanet:98301 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD1 Cobalamin C disease mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 Triphalangeal thumb human_phenotype_ontology_hp_0001199_human_phenotype_ontology_hp_0005846_human_phenotype_ontology_hp_0006194_human_phenotype_ontology_hp_0009610_human_phenotype_ontology_hp_0009619_medgen_c0241397 Human_Phenotype_Ontology:HP:0001199,Human_Phenotype_Ontology:HP:0005846,Human_Phenotype_Ontology:HP:0006194,Human_Phenotype_Ontology:HP:0009610,Human_Phenotype_Ontology:HP:0009619,MedGen:C0241397 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG4 LIG4-related disorder lig4_related_disorder MedGen:CN239380 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX4 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI1 Developmental and epileptic encephalopathy 121 mondo_mondo_0980966_medgen_cn380843_omim_621475 MONDO:MONDO:0980966,MedGen:CN380843,OMIM:621475 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LETM1 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction mondo_mondo_0859304_medgen_c5774240_omim_620089 MONDO:MONDO:0859304,MedGen:C5774240,OMIM:620089 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEP Obesity due to congenital leptin deficiency mondo_mondo_0013991_medgen_c3554224_omim_614962_orphanet_66628 MONDO:MONDO:0013991,MedGen:C3554224,OMIM:614962,Orphanet:66628 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEF1 Ectodermal dysplasia 17 with or without limb malformations mondo_mondo_0979228_medgen_c6012731_omim_621224 MONDO:MONDO:0979228,MedGen:C6012731,OMIM:621224 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 Dilated cardiomyopathy 1C mondo_mondo_0011094_medgen_c1832244_omim_601493_orphanet_154_orphanet_54260 MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY rhizomelic_skeletal_dysplasia_with_pelger_huet_anomaly . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 Perrault syndrome mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS1 Infantile liver failure syndrome 1 mondo_mondo_0024568_medgen_c3809522_omim_615438_orphanet_370088 MONDO:MONDO:0024568,MedGen:C3809522,OMIM:615438,Orphanet:370088 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARP7 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARGE1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 mondo_mondo_0013158_medgen_c3150414_omim_613154_orphanet_588_orphanet_899 MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC2 Junctional epidermolysis bullosa, non-Herlitz type mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 LAMB3-related disorder lamb3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA5 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT3 Corneal dystrophy, Meesmann, 2 mondo_mondo_0032904_medgen_c5231495_omim_618767 MONDO:MONDO:0032904,MedGen:C5231495,OMIM:618767 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT17 Steatocystoma multiplex human_phenotype_ontology_hp_0012035_mondo_mondo_0008485_medgen_c0259771_omim_184500_orphanet_841 Human_Phenotype_Ontology:HP:0012035,MONDO:MONDO:0008485,MedGen:C0259771,OMIM:184500,Orphanet:841 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Ichthyosis hystrix of Curth-Macklin mondo_mondo_0007808_medgen_c1840296_omim_146590_orphanet_79503 MONDO:MONDO:0007808,MedGen:C1840296,OMIM:146590,Orphanet:79503 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Epidermolytic hyperkeratosis 1 mondo_mondo_0700249_medgen_c5781874_omim_113800 MONDO:MONDO:0700249,MedGen:C5781874,OMIM:113800 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Diffuse nonepidermolytic palmoplantar keratoderma human_phenotype_ontology_hp_0007404_mondo_mondo_0010962_medgen_c1833030_omim_600962_orphanet_530838 Human_Phenotype_Ontology:HP:0007404,MONDO:MONDO:0010962,MedGen:C1833030,OMIM:600962,Orphanet:530838 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Encephalocraniocutaneous lipomatosis mondo_mondo_0013074_medgen_c0406612_omim_613001_orphanet_2396 MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNG1 High molecular weight kininogen deficiency human_phenotype_ontology_hp_0004867_human_phenotype_ontology_hp_0005500_human_phenotype_ontology_hp_0005527_human_phenotype_ontology_hp_0005530_human_phenotype_ontology_hp_0005538_mondo_mondo_0009234_medgen_c0272340_omim_228960_orphanet_483 Human_Phenotype_Ontology:HP:0004867,Human_Phenotype_Ontology:HP:0005500,Human_Phenotype_Ontology:HP:0005527,Human_Phenotype_Ontology:HP:0005530,Human_Phenotype_Ontology:HP:0005538,MONDO:MONDO:0009234,MedGen:C0272340,OMIM:228960,Orphanet:483 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C KMT2C-related disorder kmt2c_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLK4 Amelogenesis imperfecta type 2A1 mondo_mondo_0008772_medgen_c2673922_omim_204700_orphanet_88661 MONDO:MONDO:0008772,MedGen:C2673922,OMIM:204700,Orphanet:88661 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL20 Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities mondo_mondo_0980709_medgen_cn380057_omim_621390 MONDO:MONDO:0980709,MedGen:CN380057,OMIM:621390 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF6 Prostate cancer, somatic medgen_c4015779 MedGen:C4015779 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF1 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 medgen_c3150805_omim_613566_orphanet_251380 MedGen:C3150805,OMIM:613566,Orphanet:251380 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KITLG Hyperpigmentation with or without hypopigmentation, familial progressive mondo_mondo_0007771_medgen_c1840392_omim_145250_orphanet_280628_orphanet_79146 MONDO:MONDO:0007771,MedGen:C1840392,OMIM:145250,Orphanet:280628,Orphanet:79146 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1R Hypogonadotropic hypogonadism 8 without anosmia medgen_c4016875 MedGen:C4016875 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A KIF5A-related disorder kif5a_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF22 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF21A condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Spastic paraplegia 30A, autosomal dominant mondo_mondo_0700307_medgen_cn380650_omim_610357 MONDO:MONDO:0700307,MedGen:CN380650,OMIM:610357 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF12 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KICS2 Intellectual developmental disorder, autosomal recessive 83 mondo_mondo_0976231_medgen_c6012698_omim_621100 MONDO:MONDO:0976231,MedGen:C6012698,OMIM:621100 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA1549 Retinitis pigmentosa 86 mondo_mondo_0032834_medgen_c5231428_omim_618613 MONDO:MONDO:0032834,MedGen:C5231428,OMIM:618613 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0825 Polydactyly, postaxial, type a10 mondo_mondo_0032785_medgen_c5193129_omim_618498 MONDO:MONDO:0032785,MedGen:C5193129,OMIM:618498 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 KIAA0586-related disorder kiaa0586_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM1A Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome mondo_mondo_0014751_medgen_c4225229_omim_616728_orphanet_477993 MONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728,Orphanet:477993 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD17 Myoclonic dystonia 26 mondo_mondo_0014620_medgen_c4225341_omim_616398 MONDO:MONDO:0014620,MedGen:C4225341,OMIM:616398 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ4 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 Cerebellar atrophy, developmental delay, and seizures mondo_mondo_0060551_medgen_c4539985_omim_617643 MONDO:MONDO:0060551,MedGen:C4539985,OMIM:617643 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ5 Familial hyperaldosteronism type III mondo_mondo_0013359_medgen_c3838758_omim_613677_orphanet_251274 MONDO:MONDO:0013359,MedGen:C3838758,OMIM:613677,Orphanet:251274 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Atrial fibrillation, familial, 9 mondo_mondo_0013513_medgen_c3151431_omim_613980 MONDO:MONDO:0013513,MedGen:C3151431,OMIM:613980 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Neonatal insulin-dependent diabetes mellitus human_phenotype_ontology_hp_0000857_medgen_c3278636 Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH5 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 KCNH2-related disorder kcnh2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A KAT6A-related disorder kat6a_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KASH5 Spermatogenic failure 88 mondo_mondo_0957821_medgen_c5882706_omim_620547 MONDO:MONDO:0957821,MedGen:C5882706,OMIM:620547 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS leukoencephalopathy_progressive_infantile_onset_with_deafness . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Autosomal recessive nonsyndromic hearing loss 89 mondo_mondo_0013489_medgen_c3151351_omim_613916_orphanet_90636 MONDO:MONDO:0013489,MedGen:C3151351,OMIM:613916,Orphanet:90636 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAM3 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG2 Muscular dystrophy, limb-girdle, autosomal recessive 27 mondo_mondo_0030456_medgen_c5562002_omim_619566 MONDO:MONDO:0030456,MedGen:C5562002,OMIM:619566 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IVD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Platelet-type bleeding disorder 16 mondo_mondo_0008552_medgen_c5442010_omim_187800_orphanet_140957 MONDO:MONDO:0008552,MedGen:C5442010,OMIM:187800,Orphanet:140957 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IPO8 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL3 Cryptorchidism human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6ST Hyper-IgE recurrent infection syndrome 4A, autosomal dominant mondo_mondo_0800131_medgen_c5676920_omim_619752 MONDO:MONDO:0800131,MedGen:C5676920,OMIM:619752 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL36RN Acrodermatitis continua suppurativa of Hallopeau mondo_mondo_0013626_medgen_c0392439_omim_614204_orphanet_163931 MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RC Candidiasis, familial, 9 mondo_mondo_0014642_medgen_c4225324_omim_616445_orphanet_1334 MONDO:MONDO:0014642,MedGen:C4225324,OMIM:616445,Orphanet:1334 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IHH Acrocapitofemoral dysplasia mondo_mondo_0011907_medgen_c1843096_omim_607778_orphanet_63446 MONDO:MONDO:0011907,MedGen:C1843096,OMIM:607778,Orphanet:63446 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGFALS Short stature due to primary acid-labile subunit deficiency mondo_mondo_0014420_medgen_c3900122_omim_615961_orphanet_140941 MONDO:MONDO:0014420,MedGen:C3900122,OMIM:615961,Orphanet:140941 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 Bardet-Biedl syndrome 22 mondo_mondo_0014926_medgen_c5561936_omim_617119 MONDO:MONDO:0014926,MedGen:C5561936,OMIM:617119 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT27 Bardet-Biedl syndrome 19 mondo_mondo_0014447_medgen_c3889475_omim_615996_orphanet_110 MONDO:MONDO:0014447,MedGen:C3889475,OMIM:615996,Orphanet:110 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Short-rib thoracic dysplasia 10 without polydactyly medgen_c4017084 MedGen:C4017084 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTT condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B7 HSD3B7-related disorder hsd3b7_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 HSD17B4-related disorder hsd17b4_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B10 condition not provided condition_not_provided .|MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRURF Hypotrichosis 4 mondo_mondo_0100522_medgen_c2750815_omim_146550_orphanet_444 MONDO:MONDO:0100522,MedGen:C2750815,OMIM:146550,Orphanet:444 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Lip and oral cavity carcinoma mondo_mondo_0023644_medgen_c0220641 MONDO:MONDO:0023644,MedGen:C0220641 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HR Hypotrichosis 4 mondo_mondo_0100522_medgen_c2750815_omim_146550_orphanet_444 MONDO:MONDO:0100522,MedGen:C2750815,OMIM:146550,Orphanet:444 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPGD Isolated congenital digital clubbing mondo_mondo_0007343_medgen_c0345408_omim_119900_orphanet_217059 MONDO:MONDO:0007343,MedGen:C0345408,OMIM:119900,Orphanet:217059 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPDL Spastic paraplegia 83, autosomal recessive mondo_mondo_0033614_medgen_c5436637_omim_619027_orphanet_631076 MONDO:MONDO:0033614,MedGen:C5436637,OMIM:619027,Orphanet:631076 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOMER2 Autosomal dominant nonsyndromic hearing loss 68 mondo_mondo_0014740_medgen_c4225240_omim_616707_orphanet_90635 MONDO:MONDO:0014740,MedGen:C4225240,OMIM:616707,Orphanet:90635 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH1 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects mondo_mondo_0859301_medgen_c5774235_omim_620083_orphanet_662207 MONDO:MONDO:0859301,MedGen:C5774235,OMIM:620083,Orphanet:662207 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCS2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCS1 Congenital myopathy 28 with rigid spine mondo_mondo_0980756_medgen_cn380447_omim_621433 MONDO:MONDO:0980756,MedGen:CN380447,OMIM:621433 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCR Muscular dystrophy, limb-girdle, autosomal recessive 28 mondo_mondo_0957270_medgen_c5830518_omim_620375_orphanet_653725 MONDO:MONDO:0957270,MedGen:C5830518,OMIM:620375,Orphanet:653725 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Encephalopathy, porphyria-related mondo_mondo_0958224_medgen_c5935574_omim_620704 MONDO:MONDO:0958224,MedGen:C5935574,OMIM:620704 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Retinitis pigmentosa 79 mondo_mondo_0044320_medgen_c4479526_omim_617460 MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Charcot-Marie-Tooth disease type 4G mondo_mondo_0011534_medgen_c1854449_omim_605285_orphanet_99953 MONDO:MONDO:0011534,MedGen:C1854449,OMIM:605285,Orphanet:99953 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HINT1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HID1 Developmental and epileptic encephalopathy 105 with hypopituitarism mondo_mondo_0031028_medgen_c5774190_omim_619983 MONDO:MONDO:0031028,MedGen:C5774190,OMIM:619983 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGD HGD-related disorder hgd_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability mondo_mondo_0013491_medgen_c3151356_omim_613926_orphanet_2478 MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926,Orphanet:2478 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEATR3 Diamond-Blackfan anemia 21 mondo_mondo_0031071_medgen_c5774230_omim_620072 MONDO:MONDO:0031071,MedGen:C5774230,OMIM:620072 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 Neurodevelopmental disorder with central hypotonia and dysmorphic facies mondo_mondo_0859232_medgen_c5676944_omim_619797 MONDO:MONDO:0859232,MedGen:C5676944,OMIM:619797 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN4 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN4 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBG2 Hereditary persistence of fetal hemoglobin mondo_mondo_0020989_medgen_c0019025_omim_141749 MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBG2 Cyanosis, transient neonatal mondo_mondo_0013511_medgen_c3151421_omim_613977_orphanet_280615 MONDO:MONDO:0013511,MedGen:C3151421,OMIM:613977,Orphanet:280615 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAX1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACD1 Congenital myopathy 11 mondo_mondo_0859264_medgen_c3151531_omim_619967 MONDO:MONDO:0859264,MedGen:C3151531,OMIM:619967 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H6PD Cortisone reductase deficiency 1 mondo_mondo_0011503_medgen_c3551716_omim_604931_orphanet_168588 MONDO:MONDO:0011503,MedGen:C3551716,OMIM:604931,Orphanet:168588 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C5 Tessadori-Van Haaften neurodevelopmental syndrome 3 mondo_mondo_0030993_medgen_c5774310_omim_619950 MONDO:MONDO:0030993,MedGen:C5774310,OMIM:619950 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYS1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2C Congenital diarrhea 6 mondo_mondo_0013825_medgen_c3553270_omim_614616_orphanet_314373 MONDO:MONDO:0013825,MedGen:C3553270,OMIM:614616,Orphanet:314373 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY1A1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSR Hemolytic anemia due to glutathione reductase deficiency mondo_mondo_0019531_medgen_c5231513_omim_618660_orphanet_90030 MONDO:MONDO:0019531,MedGen:C5231513,OMIM:618660,Orphanet:90030 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSDME Autosomal dominant nonsyndromic hearing loss 5 mondo_mondo_0010973_medgen_c1832932_omim_600994_orphanet_90635 MONDO:MONDO:0010973,MedGen:C1832932,OMIM:600994,Orphanet:90635 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2D condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Developmental and epileptic encephalopathy 101 mondo_mondo_0030727_medgen_c5676955_omim_619814 MONDO:MONDO:0030727,MedGen:C5676955,OMIM:619814 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures mondo_mondo_0859201_medgen_c5562006_omim_619580 MONDO:MONDO:0859201,MedGen:C5562006,OMIM:619580 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRID2 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRID2 Autosomal recessive spinocerebellar ataxia 18 mondo_mondo_0014530_medgen_c4015505_omim_616204_orphanet_363432 MONDO:MONDO:0014530,MedGen:C4015505,OMIM:616204,Orphanet:363432 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA1 Intellectual developmental disorder, autosomal dominant 67 mondo_mondo_0030964_medgen_c5677006_omim_619927 MONDO:MONDO:0030964,MedGen:C5677006,OMIM:619927 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL3 Isolated cleft palate mondo_mondo_0007336_medgen_c1837218_omim_119540_orphanet_2014 MONDO:MONDO:0007336,MedGen:C1837218,OMIM:119540,Orphanet:2014 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPSM2 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR156 Hearing loss, autosomal recessive 121 mondo_mondo_0957825_medgen_c5882709_omim_620551 MONDO:MONDO:0957825,MedGen:C5882709,OMIM:620551 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPD1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP6 Platelet-type bleeding disorder 11 mondo_mondo_0013623_medgen_c3280120_omim_614201_orphanet_73271_orphanet_98885 MONDO:MONDO:0013623,MedGen:C3280120,OMIM:614201,Orphanet:73271,Orphanet:98885 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Bernard-Soulier syndrome, type A1 medgen_c3278148 MedGen:C3278148 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOSR2 Muscular dystrophy, congenital, with or without seizures mondo_mondo_0859336_medgen_c5774274_omim_620166 MONDO:MONDO:0859336,MedGen:C5774274,OMIM:620166 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOLGA2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 GNB5-related disorder gnb5_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 GNAO1-related disorder gnao1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAL condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA11 Familial hypocalciuric hypercalcemia 2 mondo_mondo_0007792_medgen_c1840347_omim_145981_orphanet_101049_orphanet_405 MONDO:MONDO:0007792,MedGen:C1840347,OMIM:145981,Orphanet:101049,Orphanet:405 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPA condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUL Developmental and epileptic encephalopathy 116 mondo_mondo_0970945_medgen_c5935615_omim_620806 MONDO:MONDO:0970945,MedGen:C5935615,OMIM:620806 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLS Developmental and epileptic encephalopathy, 71 mondo_mondo_0032678_medgen_c5193030_omim_618328_orphanet_557064 MONDO:MONDO:0032678,MedGen:C5193030,OMIM:618328,Orphanet:557064 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRX5 Sideroblastic anemia 3 mondo_mondo_0014804_medgen_c4225155_omim_616860_orphanet_255132 MONDO:MONDO:0014804,MedGen:C4225155,OMIM:616860,Orphanet:255132 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRA2 condition not provided condition_not_provided .|MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLMN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLMN GLMN-related disorder glmn_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Microform holoprosencephaly mondo_mondo_0017219_medgen_c5393309_orphanet_280200 MONDO:MONDO:0017219,MedGen:C5393309,Orphanet:280200 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI1 Polydactyly, postaxial, type A8 mondo_mondo_0029130_medgen_c4748277_omim_618123 MONDO:MONDO:0029130,MedGen:C4748277,OMIM:618123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 GM1-gangliosidosis, type I, with cardiac involvement medgen_c1968748 MedGen:C1968748 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 Lymphatic malformation 3 mondo_mondo_0013278_medgen_c4747646_omim_613480_orphanet_79452 MONDO:MONDO:0013278,MedGen:C4747646,OMIM:613480,Orphanet:79452 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 Hidrotic ectodermal dysplasia syndrome human_phenotype_ontology_hp_0007529_mondo_mondo_0007510_medgen_c0162361_omim_129500_orphanet_189 Human_Phenotype_Ontology:HP:0007529,MONDO:MONDO:0007510,MedGen:C0162361,OMIM:129500,Orphanet:189 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB4 Erythrokeratodermia variabilis et progressiva 2 mondo_mondo_0033012_medgen_c4479618_omim_617524 MONDO:MONDO:0033012,MedGen:C4479618,OMIM:617524 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB3 Erythrokeratodermia variabilis et progressiva 1 mondo_mondo_0033010_medgen_c4551486_omim_133200_orphanet_317 MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 nonsyndromic sensorineural hearing loss mesh_c537845_medgen_c1842137 MeSH:C537845,MedGen:C1842137 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Nonsyndromic Deafness mesh_c580334_medgen_c3711374 MeSH:C580334,MedGen:C3711374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Hereditary palmoplantar keratoderma mondo_mondo_0019272_medgen_c0406757_orphanet_79357 MONDO:MONDO:0019272,MedGen:C0406757,Orphanet:79357 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHRHR Isolated growth hormone deficiency type IB mondo_mondo_0013006_medgen_c2748571_omim_612781_orphanet_231671_orphanet_631 MONDO:MONDO:0013006,MedGen:C2748571,OMIM:612781,Orphanet:231671,Orphanet:631 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHR Short stature due to partial GHR deficiency mondo_mondo_0011420_medgen_c1858656_omim_604271_orphanet_314802_orphanet_314811 MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GH1 Ateleiotic dwarfism mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFPT1 Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM2 condition not provided condition_not_provided .|MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN5 GEMIN5-related disorder gemin5_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF9 Premature ovarian failure 14 mondo_mondo_0044777_medgen_c4693941_omim_618014 MONDO:MONDO:0044777,MedGen:C4693941,OMIM:618014 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Type A2 brachydactyly human_phenotype_ontology_hp_0009372_mondo_mondo_0007216_medgen_c1832702_omim_112600_orphanet_93396 Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Multiple synostoses syndrome 2 mondo_mondo_0012394_medgen_c1832708_omim_610017_orphanet_3237 MONDO:MONDO:0012394,MedGen:C1832708,OMIM:610017,Orphanet:3237 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Acromesomelic dysplasia 2B mondo_mondo_0009231_medgen_c1856738_omim_228900_orphanet_2639 MONDO:MONDO:0009231,MedGen:C1856738,OMIM:228900,Orphanet:2639 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP2 Spinocerebellar ataxia, autosomal recessive 27 mondo_mondo_0032706_medgen_c5193058_omim_618369 MONDO:MONDO:0032706,MedGen:C5193058,OMIM:618369 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Gestational diabetes human_phenotype_ontology_hp_0009800_mondo_mondo_0005406_medgen_c0085207 Human_Phenotype_Ontology:HP:0009800,MONDO:MONDO:0005406,MedGen:C0085207 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 GTP cyclohydrolase I deficiency with hyperphenylalaninemia mondo_mondo_0100186_medgen_cn305333_omim_233910_orphanet_2102_orphanet_238583 MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910,Orphanet:2102,Orphanet:238583 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCGR GCGR-related hyperglucagonemia mondo_mondo_0018582_medgen_c4763635_omim_619290_orphanet_438274 MONDO:MONDO:0018582,MedGen:C4763635,OMIM:619290,Orphanet:438274 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Adult polyglucosan body neuropathy medgen_c4017118 MedGen:C4017118 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA5 Congenital heart defects, multiple types, 5 mondo_mondo_0060663_medgen_c4693563_omim_617912 MONDO:MONDO:0060663,MedGen:C4693563,OMIM:617912 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 GATA3-related disorder gata3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 Leukemia, acute myeloid, susceptibility to mondo_mondo_0100173_medgen_c3275959 MONDO:MONDO:0100173,MedGen:C3275959 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 GATA2-related disorder gata2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAN condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB1 Developmental and epileptic encephalopathy, 45 mondo_mondo_0014942_medgen_c4310691_omim_617153 MONDO:MONDO:0014942,MedGen:C4310691,OMIM:617153 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA5 Developmental and epileptic encephalopathy, 79 mondo_mondo_0032813_medgen_c5231410_omim_618559 MONDO:MONDO:0032813,MedGen:C5231410,OMIM:618559 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 Neurodevelopmental disorder with language delay and variable cognitive abnormalities mondo_mondo_0957779_medgen_c5882689_omim_620502 MONDO:MONDO:0957779,MedGen:C5882689,OMIM:620502 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FYCO1 FYCO1-related disorder fyco1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 Autosomal recessive bestrophinopathy mondo_mondo_0012733_medgen_c3888198_omim_611809_orphanet_139455 MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809,Orphanet:139455 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHB Hypogonadotropic hypogonadism 24 without anosmia mondo_mondo_0009239_medgen_c5574957_omim_229070_orphanet_52901 MONDO:MONDO:0009239,MedGen:C5574957,OMIM:229070,Orphanet:52901 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMPD4 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP3 FOXP3-related disorder foxp3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC2 FOXC2-related disorder foxc2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 FOXC1-related disorder foxc1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOSL2 Aplasia cutis-enamel dysplasia syndrome mondo_mondo_0968978_medgen_c5935608_omim_620789_orphanet_697356 MONDO:MONDO:0968978,MedGen:C5935608,OMIM:620789,Orphanet:697356 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Terminal osseous dysplasia-pigmentary defects syndrome mondo_mondo_0010279_medgen_c1846129_omim_300244_orphanet_88630 MONDO:MONDO:0010279,MedGen:C1846129,OMIM:300244,Orphanet:88630 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP6 Spermatogenic failure 77 mondo_mondo_0031083_medgen_c5774245_omim_620103 MONDO:MONDO:0031083,MedGen:C5774245,OMIM:620103 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP6 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIGLA Premature ovarian failure 6 mondo_mondo_0012861_medgen_c2676742_omim_612310 MONDO:MONDO:0012861,MedGen:C2676742,OMIM:612310 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Malignant tumor of testis mondo_mondo_0005447_medgen_c0153594 MONDO:MONDO:0005447,MedGen:C0153594 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Delayed puberty human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF23 Tumoral calcinosis, hyperphosphatemic, familial, 2 mondo_mondo_0060714_medgen_c4693863_omim_617993 MONDO:MONDO:0060714,MedGen:C4693863,OMIM:617993 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF14 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF10 Congenital absence of salivary gland mondo_mondo_0008397_medgen_c0158667_omim_180920_orphanet_86815 MONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920,Orphanet:86815 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FECH FECH-related disorder fech_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCSK Congenital disorder of glycosylation with defective fucosylation 2 mondo_mondo_0020777_medgen_c5193028_omim_618324 MONDO:MONDO:0020777,MedGen:C5193028,OMIM:618324 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Congenital aneurysm of ascending aorta mondo_mondo_0024559_medgen_c0345050_omim_607086_orphanet_229 MONDO:MONDO:0024559,MedGen:C0345050,OMIM:607086,Orphanet:229 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Acute aortic dissection medgen_c0241868 MedGen:C0241868 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT1 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASTKD5 Mitochondrial complex IV deficiency, nuclear type 24 mondo_mondo_0980755_medgen_cn380446_omim_621431 MONDO:MONDO:0980755,MedGen:CN380446,OMIM:621431 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASTKD5 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASLG Autoimmune lymphoproliferative syndrome type 1 mondo_mondo_0011158_medgen_c1328840_omim_601859_orphanet_3261 MONDO:MONDO:0011158,MedGen:C1328840,OMIM:601859,Orphanet:3261 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSB Vascular dilatation human_phenotype_ontology_hp_0002617_medgen_c0002940 Human_Phenotype_Ontology:HP:0002617,MedGen:C0002940 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSB Interstitial pneumonitis human_phenotype_ontology_hp_0006515_medgen_c0206061 Human_Phenotype_Ontology:HP:0006515,MedGen:C0206061 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSB Cirrhosis of liver human_phenotype_ontology_hp_0001394_mondo_mondo_0005155_medgen_c0023890 Human_Phenotype_Ontology:HP:0001394,MONDO:MONDO:0005155,MedGen:C0023890 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSB Cerebral calcification human_phenotype_ontology_hp_0002502_human_phenotype_ontology_hp_0002514_human_phenotype_ontology_hp_0005806_human_phenotype_ontology_hp_0006848_medgen_c0270685 Human_Phenotype_Ontology:HP:0002502,Human_Phenotype_Ontology:HP:0002514,Human_Phenotype_Ontology:HP:0005806,Human_Phenotype_Ontology:HP:0006848,MedGen:C0270685 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAR1 Fatty acyl-CoA reductase 1 deficiency mondo_mondo_0014510_medgen_c4015344_omim_616154_orphanet_438178 MONDO:MONDO:0014510,MedGen:C4015344,OMIM:616154,Orphanet:438178 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAR1 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY medgen_c5543440_omim_619338 MedGen:C5543440,OMIM:619338 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG FANCG-related disorder fancg_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 FANCD2-related disorder fancd2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAN1 FAN1-related disorder fan1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM111B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Abnormality of coagulation human_phenotype_ontology_hp_0001928_medgen_c1846821 Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13A1 F13A1-related disorder f13a1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 Hereditary angioedema type 3 mondo_mondo_0012526_medgen_c1857728_omim_610618_orphanet_100054 MONDO:MONDO:0012526,MedGen:C1857728,OMIM:610618,Orphanet:100054 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC5 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects mondo_mondo_0859200_medgen_c5562005_omim_619576_orphanet_641361 MONDO:MONDO:0859200,MedGen:C5562005,OMIM:619576,Orphanet:641361 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC6B Spondyloepimetaphyseal dysplasia with joint laxity, type 3 mondo_mondo_0032724_medgen_c5193073_omim_618395_orphanet_642085 MONDO:MONDO:0032724,MedGen:C5193073,OMIM:618395,Orphanet:642085 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 ETV6-related disorder etv6_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFA condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESRRG Movement disorder human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESRRB Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6L2 ERCC6L2-related disorder ercc6l2_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPG5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Lynch syndrome 8 mondo_mondo_0013196_medgen_c2750471_omim_613244_orphanet_144 MONDO:MONDO:0013196,MedGen:C2750471,OMIM:613244,Orphanet:144 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia medgen_c1832529 MedGen:C1832529 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMILIN1 Arterial tortuosity human_phenotype_ontology_hp_0005116_medgen_c3279191 Human_Phenotype_Ontology:HP:0005116,MedGen:C3279191 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Irido-corneo-trabecular dysgenesis human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL4 Stargardt disease 3 mondo_mondo_0010819_medgen_c1838644_omim_600110_orphanet_827 MONDO:MONDO:0010819,MedGen:C1838644,OMIM:600110,Orphanet:827 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELFN1 Dursun-Ozgul neurodevelopmental syndrome mondo_mondo_0979898_medgen_cn379912_omim_621344 MONDO:MONDO:0979898,MedGen:CN379912,OMIM:621344 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELF4 condition not provided condition_not_provided .|MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B1 Leukoencephalopathy with vanishing white matter 1 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGR2 Dejerine-Sottas disease mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGR2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFL1 Shwachman-Diamond syndrome 2 mondo_mondo_0044205_medgen_c4693704_omim_617941 MONDO:MONDO:0044205,MedGen:C4693704,OMIM:617941 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA Anhidrotic ectodermal dysplasia human_phenotype_ontology_hp_0007476_medgen_c1706004 Human_Phenotype_Ontology:HP:0007476,MedGen:C1706004 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNLT2B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2LI1 Asphyxiating thoracic dystrophy 1 mondo_mondo_0008831_medgen_c4551856_omim_208500_orphanet_474 MONDO:MONDO:0008831,MedGen:C4551856,OMIM:208500,Orphanet:474 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYM Smith-McCort dysplasia 1 mondo_mondo_0011814_medgen_c3888088_omim_607326 MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOX2 Congenital hypothyroidism human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DTYMK Neurodegeneration, childhood-onset, with progressive microcephaly mondo_mondo_0859241_medgen_c5676972_omim_619847 MONDO:MONDO:0859241,MedGen:C5676972,OMIM:619847 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DTNBP1 Hermansky-Pudlak syndrome 7 mondo_mondo_0013559_medgen_c3279756_omim_614076_orphanet_231531_orphanet_79430 MONDO:MONDO:0013559,MedGen:C3279756,OMIM:614076,Orphanet:231531,Orphanet:79430 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSTYK Congenital anomalies of kidney and urinary tract 1 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST DST-related disorder dst_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSE condition not provided condition_not_provided .|MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC3 Hereditary hypotrichosis with recurrent skin vesicles mondo_mondo_0013136_medgen_c2751292_omim_613102_orphanet_217407 MONDO:MONDO:0013136,MedGen:C2751292,OMIM:613102,Orphanet:217407 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPAGT1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON Microcephaly-micromelia syndrome mondo_mondo_0009619_medgen_c1855079_omim_251230_orphanet_572768 MONDO:MONDO:0009619,MedGen:C1855079,OMIM:251230,Orphanet:572768 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOLK Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 DOK7-related disorder dok7_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOHH Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment mondo_mondo_0859293_medgen_c5774225_omim_620066 MONDO:MONDO:0859293,MedGen:C5774225,OMIM:620066 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK6 DOCK6-related disorder dock6_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK6 Adams-Oliver syndrome mondo_mondo_0007034_medgen_c0265268_omim_ps100300_orphanet_974 MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS100300,Orphanet:974 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH7 Ciliary dyskinesia, primary, 50 mondo_mondo_0957252_medgen_c5830473_omim_620356 MONDO:MONDO:0957252,MedGen:C5830473,OMIM:620356 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH17 DNAH17-related disorder dnah17_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH10 Spermatogenic failure 56 mondo_mondo_0030430_medgen_c5561978_omim_619515 MONDO:MONDO:0030430,MedGen:C5561978,OMIM:619515 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF6 Ciliary dyskinesia, primary, 36, X-linked mondo_mondo_0010517_medgen_c4478372_omim_300991 MONDO:MONDO:0010517,MedGen:C4478372,OMIM:300991 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX3 Tricho-dento-osseous syndrome mondo_mondo_0008592_medgen_c0265333_omim_190320_orphanet_3352 MONDO:MONDO:0008592,MedGen:C0265333,OMIM:190320,Orphanet:3352 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL4 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DKC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHPS condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHODH condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHH 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome mondo_mondo_0011766_medgen_c5436061_omim_607080_orphanet_168563 MONDO:MONDO:0011766,MedGen:C5436061,OMIM:607080,Orphanet:168563 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR24 Desmosterolosis mondo_mondo_0011217_medgen_c1865596_omim_602398_orphanet_35107 MONDO:MONDO:0011217,MedGen:C1865596,OMIM:602398,Orphanet:35107 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 DEPDC5-related disorder depdc5_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX59 Orofaciodigital syndrome V mondo_mondo_0008267_medgen_c1868118_omim_174300_orphanet_2919 MONDO:MONDO:0008267,MedGen:C1868118,OMIM:174300,Orphanet:2919 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCN Congenital stromal corneal dystrophy mondo_mondo_0012401_medgen_c1864738_omim_610048_orphanet_101068 MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048,Orphanet:101068 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAW1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAW1 Ciliary dyskinesia, primary, 52 mondo_mondo_0957922_medgen_c5882714_omim_620570 MONDO:MONDO:0957922,MedGen:C5882714,OMIM:620570 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Charcot-Marie-Tooth disease, axonal, type 2LL mondo_mondo_0980969_medgen_cn380850_omim_621485 MONDO:MONDO:0980969,MedGen:CN380850,OMIM:621485 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAGLA Benign paroxysmal tonic upgaze of childhood with ataxia mondo_mondo_0008206_medgen_c1868576_omim_168885_orphanet_1179 MONDO:MONDO:0008206,MedGen:C1868576,OMIM:168885,Orphanet:1179 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAAM2 Nephrotic syndrome, type 24 mondo_mondo_0031008_medgen_c5543267_omim_619263_orphanet_567548 MONDO:MONDO:0031008,MedGen:C5543267,OMIM:619263,Orphanet:567548 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 CYP7B1-related disorder cyp7b1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP26B1 Lethal occipital encephalocele-skeletal dysplasia syndrome mondo_mondo_0013740_medgen_c3280729_omim_614416_orphanet_293925 MONDO:MONDO:0013740,MedGen:C3280729,OMIM:614416,Orphanet:293925 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD Multiple monogenic benign skin tumours multiple_monogenic_benign_skin_tumours . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYGB Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYCS Thrombocytopenia 4 mondo_mondo_0012775_medgen_c2677608_omim_612004_orphanet_268322 MONDO:MONDO:0012775,MedGen:C2677608,OMIM:612004,Orphanet:268322 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBB X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency mondo_mondo_0010389_medgen_c1970859_omim_300645_orphanet_319605 MONDO:MONDO:0010389,MedGen:C1970859,OMIM:300645,Orphanet:319605 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome mondo_mondo_0020647_medgen_c4748348_omim_618142 MONDO:MONDO:0020647,MedGen:C4748348,OMIM:618142 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTA Peeling skin syndrome 4 mondo_mondo_0011937_medgen_c4225407_omim_607936_orphanet_289586 MONDO:MONDO:0011937,MedGen:C4225407,OMIM:607936,Orphanet:289586 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSRP3 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSPP1 CSPP1-related disorder cspp1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA4 Cataract 23 mondo_mondo_0012489_medgen_c3808012_omim_610425_orphanet_91492 MONDO:MONDO:0012489,MedGen:C3808012,OMIM:610425,Orphanet:91492 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAB Cataract 16 multiple types mondo_mondo_0013411_medgen_c3808377_omim_613763_orphanet_91492_orphanet_98992_orphanet_98993_orphanet_98995 MONDO:MONDO:0013411,MedGen:C3808377,OMIM:613763,Orphanet:91492,Orphanet:98992,Orphanet:98993,Orphanet:98995 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRELD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRELD1 Atrioventricular septal defect, susceptibility to, 2 mondo_mondo_0011650_medgen_c1853508_omim_606217 MONDO:MONDO:0011650,MedGen:C1853508,OMIM:606217 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREB3L1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRBN Intellectual disability, autosomal recessive 2 mondo_mondo_0011828_medgen_c1843942_omim_607417_orphanet_88616 MONDO:MONDO:0011828,MedGen:C1843942,OMIM:607417,Orphanet:88616 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPE BDV syndrome mondo_mondo_0859150_medgen_c5543403_omim_619326_orphanet_633028 MONDO:MONDO:0859150,MedGen:C5543403,OMIM:619326,Orphanet:633028 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ2 Coenzyme Q10 deficiency mondo_mondo_0018151_medgen_c1843920_omim_ps607426_orphanet_35656 MONDO:MONDO:0018151,MedGen:C1843920,OMIM:PS607426,Orphanet:35656 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP Carpal tunnel syndrome 2 mondo_mondo_0030883_medgen_c5436916_omim_619161 MONDO:MONDO:0030883,MedGen:C5436916,OMIM:619161 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLGALT1 Brain small vessel disease 3 mondo_mondo_0100105_medgen_c5193053_omim_618360 MONDO:MONDO:0100105,MedGen:C5193053,OMIM:618360 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLEC10 3MC syndrome 3 mondo_mondo_0009554_medgen_c0796032_omim_248340_orphanet_293843 MONDO:MONDO:0009554,MedGen:C0796032,OMIM:248340,Orphanet:293843 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A1 Stickler syndrome, type 4 mondo_mondo_0013590_medgen_c3279941_omim_614134_orphanet_250984_orphanet_828 MONDO:MONDO:0013590,MedGen:C3279941,OMIM:614134,Orphanet:250984,Orphanet:828 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa pruriginosa, autosomal recessive medgen_c1853063 MedGen:C1853063 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE bethlem_myopathy_1b_autosomal_recessive . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Fibromuscular dysplasia, multifocal mondo_mondo_0859151_medgen_c5543412_omim_619329 MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 COL5A1-related disorder col5a1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Spondylometaphyseal dysplasia, Schmidt type mondo_mondo_0008478_medgen_c1866688_omim_184253_orphanet_93316 MONDO:MONDO:0008478,MedGen:C1866688,OMIM:184253,Orphanet:93316 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 early onset and severe retinal dystrophy early_onset_and_severe_retinal_dystrophy . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Hereditary glaucoma, primary closed-angle mondo_mondo_0030038_medgen_c5394374_omim_618880 MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Intervertebral disc disorder mondo_mondo_0044339_medgen_c0158252_omim_603932 MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG7 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG2 Congenital disorder of glycosylation, type IIq mondo_mondo_0054559_medgen_c4479353_omim_617395_orphanet_435934 MONDO:MONDO:0054559,MedGen:C4479353,OMIM:617395,Orphanet:435934 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP1 CNTNAP1-related disorder cntnap1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNP Myopia 2, autosomal dominant mondo_mondo_0008053_medgen_c1834531_omim_160700 MONDO:MONDO:0008053,MedGen:C1834531,OMIM:160700 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 CNGA1-related disorder cnga1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB Neutropenia, severe congenital, 9, autosomal dominant mondo_mondo_0030726_medgen_c5676954_omim_619813 MONDO:MONDO:0030726,MedGen:C5676954,OMIM:619813 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 Usher syndrome type 1J mondo_mondo_0013935_medgen_c3553944_orphanet_231169_orphanet_886 MONDO:MONDO:0013935,MedGen:C3553944,Orphanet:231169,Orphanet:886 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB2 Autosomal dominant nocturnal frontal lobe epilepsy 3 mondo_mondo_0011545_medgen_c1854335_omim_605375_orphanet_98784 MONDO:MONDO:0011545,MedGen:C1854335,OMIM:605375,Orphanet:98784 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA4 Autosomal dominant nocturnal frontal lobe epilepsy 1 mondo_mondo_0010899_medgen_c1838049_omim_600513_orphanet_98784 MONDO:MONDO:0010899,MedGen:C1838049,OMIM:600513,Orphanet:98784 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA3 SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 medgen_c3150168_omim_612052 MedGen:C3150168,OMIM:612052 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHMP2B Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 mondo_mondo_0010936_medgen_c1833296_omim_600795_orphanet_275864_orphanet_282_orphanet_803 MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795,Orphanet:275864,Orphanet:282,Orphanet:803 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHM CHM-related disorder chm_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKB condition not provided condition_not_provided .|MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Prostate cancer susceptibility medgen_c3469524 MedGen:C3469524 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Li-Fraumeni syndrome mondo_mondo_0018875_medgen_c0085390_omim_ps151623_orphanet_524 MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Breast and colorectal cancer, susceptibility to breast_and_colorectal_cancer_susceptibility_to MedGen:CN068920 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD3 CHD3-related disorder chd3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD10 Autosomal dominant mitochondrial myopathy with exercise intolerance mondo_mondo_0014532_medgen_c4015513_omim_616209_orphanet_457050 MONDO:MONDO:0014532,MedGen:C4015513,OMIM:616209,Orphanet:457050 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAMP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP43 Normal pressure hydrocephalus human_phenotype_ontology_hp_0002343_mondo_mondo_0009366_medgen_c0020258_omim_236690 Human_Phenotype_Ontology:HP:0002343,MONDO:MONDO:0009366,MedGen:C0020258,OMIM:236690 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP20 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS3 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP76 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP55 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP295 Seckel syndrome 11 mondo_mondo_0958328_medgen_c5935595_omim_620767 MONDO:MONDO:0958328,MedGen:C5935595,OMIM:620767 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP128 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP120 Joubert syndrome 31 mondo_mondo_0033310_medgen_c4540355_omim_617761 MONDO:MONDO:0033310,MedGen:C4540355,OMIM:617761 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR1 Lymphatic malformation mondo_mondo_0019313_medgen_c0398368_omim_ps153100 MONDO:MONDO:0019313,MedGen:C0398368,OMIM:PS153100 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELF2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELA2A Abdominal obesity-metabolic syndrome 4 mondo_mondo_0032837_medgen_c5231430_omim_618620 MONDO:MONDO:0032837,MedGen:C5231430,OMIM:618620 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEL Maturity-onset diabetes of the young type 8 mondo_mondo_0012348_medgen_c1853297_omim_609812_orphanet_552 MONDO:MONDO:0012348,MedGen:C1853297,OMIM:609812,Orphanet:552 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEBPE Specific granule deficiency mondo_mondo_0009506_medgen_c0398593_omim_ps245480_orphanet_169142 MONDO:MONDO:0009506,MedGen:C0398593,OMIM:PS245480,Orphanet:169142 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEACAM16 Autosomal dominant nonsyndromic hearing loss 4B mondo_mondo_0013823_medgen_c3281297_omim_614614_orphanet_90635 MONDO:MONDO:0013823,MedGen:C3281297,OMIM:614614,Orphanet:90635 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2B-AS1 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2B Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK19 Developmental and epileptic encephalopathy, 87 mondo_mondo_0030059_medgen_c5394501_omim_618916 MONDO:MONDO:0030059,MedGen:C5394501,OMIM:618916 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Retinitis pigmentosa 65 mondo_mondo_0800352_medgen_c3552852 MONDO:MONDO:0800352,MedGen:C3552852 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH11 Elsahy-Waters syndrome mondo_mondo_0008885_medgen_c0809936_omim_211380_orphanet_1299_orphanet_157788 MONDO:MONDO:0008885,MedGen:C0809936,OMIM:211380,Orphanet:1299,Orphanet:157788 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDCA7L Primary ciliary dyskinesia 7 mondo_mondo_0012748_medgen_c2678473_omim_611884_orphanet_244 MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD96 C syndrome mondo_mondo_0008893_medgen_c0796095_omim_211750_orphanet_1308 MONDO:MONDO:0008893,MedGen:C0796095,OMIM:211750,Orphanet:1308 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD63 Fundus albipunctatus, autosomal recessive medgen_c4016746 MedGen:C4016746 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD40 Hyper-IgM syndrome type 3 mondo_mondo_0011735_medgen_c1720957_omim_606843_orphanet_101090 MONDO:MONDO:0011735,MedGen:C1720957,OMIM:606843,Orphanet:101090 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD36 Coronary heart disease, susceptibility to, 7 mondo_mondo_0012585_medgen_c1970441_omim_610938 MONDO:MONDO:0012585,MedGen:C1970441,OMIM:610938 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD27 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCR2 Cystic disease of lung mondo_mondo_0009060_medgen_c1384901_omim_219600 MONDO:MONDO:0009060,MedGen:C1384901,OMIM:219600 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNQ Syndactyly-telecanthus-anogenital and renal malformations syndrome mondo_mondo_0010408_medgen_c2678045_omim_300707_orphanet_140952 MONDO:MONDO:0010408,MedGen:C2678045,OMIM:300707,Orphanet:140952 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCND2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCIN Spermatogenic failure 91 mondo_mondo_0970952_medgen_c5935623_omim_620838 MONDO:MONDO:0970952,MedGen:C5935623,OMIM:620838 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC88A PEHO-like syndrome mondo_mondo_0020495_medgen_c1850056_omim_617507_orphanet_99807 MONDO:MONDO:0020495,MedGen:C1850056,OMIM:617507,Orphanet:99807 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 CCDC40-related disorder ccdc40_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Juvenile myelomonocytic leukemia human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV1 Pulmonary hypertension, primary, 3 mondo_mondo_0014135_medgen_c3809192_omim_615343_orphanet_422 MONDO:MONDO:0014135,MedGen:C3809192,OMIM:615343,Orphanet:422 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMSAP1 CAMSAP1-related neuronal migration disorder camsap1_related_neuronal_migration_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2G Intellectual developmental disorder 59 mondo_mondo_0032795_medgen_c5193190_omim_618522 MONDO:MONDO:0032795,MedGen:C5193190,OMIM:618522 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1D Aldosterone-producing adenoma with seizures and neurological abnormalities mondo_mondo_0014200_medgen_c3809609_omim_615474_orphanet_369929 MONDO:MONDO:0014200,MedGen:C3809609,OMIM:615474,Orphanet:369929 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP2 Autosomal recessive nonsyndromic hearing loss 93 mondo_mondo_0013963_medgen_c3888355_omim_614899_orphanet_90636 MONDO:MONDO:0013963,MedGen:C3888355,OMIM:614899,Orphanet:90636 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA12 Isolated hyperchlorhidrosis mondo_mondo_0007747_medgen_c1840437_omim_143860_orphanet_542657 MONDO:MONDO:0007747,MedGen:C1840437,OMIM:143860,Orphanet:542657 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C8A Type I complement component 8 deficiency mondo_mondo_0013422_medgen_c3151081_omim_613790 MONDO:MONDO:0013422,MedGen:C3151081,OMIM:613790 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 C3 glomerulonephritis mondo_mondo_0013892_medgen_c4055342_omim_614809_orphanet_329931 MONDO:MONDO:0013892,MedGen:C4055342,OMIM:614809,Orphanet:329931 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1S Ehlers-Danlos syndrome, periodontal type 2 mondo_mondo_0014954_medgen_c4310681_omim_617174 MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1S Complement component C1s deficiency mondo_mondo_0013419_medgen_c3151078_omim_613783 MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QA C1Q deficiency mondo_mondo_0013343_medgen_c3150902_omim_ps613652 MONDO:MONDO:0013343,MedGen:C3150902,OMIM:PS613652 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1GALT1C1 Polyagglutinable erythrocyte syndrome mondo_mondo_0010381_medgen_c0272137_omim_300622 MONDO:MONDO:0010381,MedGen:C0272137,OMIM:300622 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Premature ovarian failure 18 mondo_mondo_0030939_medgen_c5543095_omim_619203 MONDO:MONDO:0030939,MedGen:C5543095,OMIM:619203 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Aicardi-Goutieres syndrome 9 mondo_mondo_0030362_medgen_c5561966_omim_619487 MONDO:MONDO:0030362,MedGen:C5561966,OMIM:619487 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Ataxia - telangiectasia variant mondo_mondo_0018266_medgen_c1876175_orphanet_370109 MONDO:MONDO:0018266,MedGen:C1876175,Orphanet:370109 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTG4 Oocyte maturation defect 8 mondo_mondo_0033564_medgen_c5436597_omim_619009 MONDO:MONDO:0033564,MedGen:C5436597,OMIM:619009 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRSK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 NICE approved PARP inhibitor treatment nice_approved_parp_inhibitor_treatment . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Breast cancer, susceptibility to medgen_c3469522 MedGen:C3469522 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Lung carcinoma mondo_mondo_0005138_medgen_c0684249 MONDO:MONDO:0005138,MedGen:C0684249 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPNT2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary arterial hypertension associated with congenital heart disease medgen_c3697119_orphanet_275803 MedGen:C3697119,Orphanet:275803 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP1 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLOC1S3 Hermansky-Pudlak syndrome 8 mondo_mondo_0013560_medgen_c3888026_omim_614077_orphanet_79430 MONDO:MONDO:0013560,MedGen:C3888026,OMIM:614077,Orphanet:79430 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLM Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11B Immunodeficiency 49 mondo_mondo_0014981_medgen_c4310656_omim_617237 MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 BBS2-related ciliopathy mondo_mondo_1040048_medgen_cn378634 MONDO:MONDO:1040048,MedGen:CN378634 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAZ2B condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 BARD1-related disorder bard1_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAAT Bile acid conjugation defect 1 mondo_mondo_0030991_medgen_c5543203_omim_619232 MONDO:MONDO:0030991,MedGen:C5543203,OMIM:619232 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D2 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D1 Joubert syndrome 27 mondo_mondo_0014927_medgen_c4310706_omim_617120 MONDO:MONDO:0014927,MedGen:C4310706,OMIM:617120 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVP AVP-related disorder avp_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP9A condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7A ATP7A-related disorder atp7a_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A4 ATP6V0A4-related disorder atp6v0a4_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATN1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATG4D Spermatogenic failure 101 mondo_mondo_0979572_medgen_c6012753_omim_621269 MONDO:MONDO:0979572,MedGen:C6012753,OMIM:621269 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 ASXL3-related disorder asxl3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 TRIM32-related disorder trim32_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM ASPM-related disorder aspm_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASL ASL-related disorder asl_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Metachromatic leukodystrophy, late infantile form mondo_mondo_0017729_medgen_c0751278_orphanet_309256 MONDO:MONDO:0017729,MedGen:C0751278,Orphanet:309256 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC2 Spermatogenic failure 38 mondo_mondo_0032748_medgen_c5193095_omim_618433 MONDO:MONDO:0032748,MedGen:C5193095,OMIM:618433 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC2 Male infertility with teratozoospermia due to single gene mutation mondo_mondo_0018394_medgen_c4706677_orphanet_399808 MONDO:MONDO:0018394,MedGen:C4706677,Orphanet:399808 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A ARID1A-related disorder arid1a_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Atrophy/Degeneration affecting the central nervous system human_phenotype_ontology_hp_0007367_medgen_c4024899 Human_Phenotype_Ontology:HP:0007367,MedGen:C4024899 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Prostate cancer, somatic medgen_c4015779 MedGen:C4015779 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP5 Palmoplantar keratoderma, Bothnian type mondo_mondo_0010849_medgen_c1838359_omim_600231_orphanet_2337 MONDO:MONDO:0010849,MedGen:C1838359,OMIM:600231,Orphanet:2337 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA5 Familial type 5 hyperlipoproteinemia mondo_mondo_0007762_medgen_c0020481_omim_144650_orphanet_530849 MONDO:MONDO:0007762,MedGen:C0020481,OMIM:144650,Orphanet:530849 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Colorectal cancer, susceptibility to medgen_c1858438 MedGen:C1858438 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO4 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKH condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD2 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMMECR1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Decreased circulating alkaline phosphatase activity human_phenotype_ontology_hp_0003282_medgen_c1860130 Human_Phenotype_Ontology:HP:0003282,MedGen:C1860130 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK3 ALPK3-related disorder alpk3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG11 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDOB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH4A1 condition not provided condition_not_provided .|MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALAS2 X-linked erythropoietic protoporphyria mondo_mondo_0010420_medgen_c2677889_omim_300752_orphanet_443197 MONDO:MONDO:0010420,MedGen:C2677889,OMIM:300752,Orphanet:443197 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALAD Porphobilinogen synthase deficiency mondo_mondo_0013000_medgen_c0268328_omim_612740_orphanet_100924_orphanet_95157 MONDO:MONDO:0013000,MedGen:C0268328,OMIM:612740,Orphanet:100924,Orphanet:95157 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIMP2 Leukodystrophy, hypomyelinating, 17 mondo_mondo_0054817_medgen_c4693912_omim_618006 MONDO:MONDO:0054817,MedGen:C4693912,OMIM:618006 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Spondyloepimetaphyseal dysplasia, Bieganski type mondo_mondo_0010275_medgen_c1846148_omim_300232_orphanet_168448_orphanet_83629 MONDO:MONDO:0010275,MedGen:C1846148,OMIM:300232,Orphanet:168448,Orphanet:83629 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Combined oxidative phosphorylation deficiency mondo_mondo_0000732_medgen_c4540031_omim_ps609060 MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Charcot-Marie-Tooth Neuropathy X charcot_marie_tooth_neuropathy_x MedGen:CN118851 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHR condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHCY Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTPBP1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPS condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Glycogen storage disease IIIb medgen_c1968740 MedGen:C1968740 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL AGL-related disorder agl_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGBL5 Retinitis pigmentosa 75 mondo_mondo_0014871_medgen_c4310759_omim_617023_orphanet_791 MONDO:MONDO:0014871,MedGen:C4310759,OMIM:617023,Orphanet:791 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGBL5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2B Hearing loss, autosomal recessive 119 mondo_mondo_0030480_medgen_c5562023_omim_619615 MONDO:MONDO:0030480,MedGen:C5562023,OMIM:619615 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADPRS condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Monogenic hearing loss monogenic_hearing_loss . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAT3 Intellectual disability-strabismus syndrome mondo_mondo_0014119_medgen_c4750838_omim_615286_orphanet_363528 MONDO:MONDO:0014119,MedGen:C4750838,OMIM:615286,Orphanet:363528 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS2 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS15 Arthrogryposis, distal, type 12 mondo_mondo_0957819_medgen_c5882704_omim_620545 MONDO:MONDO:0957819,MedGen:C5882704,OMIM:620545 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM9 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN1 condition not provided condition_not_provided MedGen:C3661900 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Congenital smooth muscle hamartoma mondo_mondo_0016986_medgen_c0406819_orphanet_263435 MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC congenital_smooth_muscle_hamartoma_somatic_mosaic . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSM3 Neurodevelopmental disorder with speech delay and variable ocular anomalies mondo_mondo_0859272_medgen_c5774194_omim_619989 MONDO:MONDO:0859272,MedGen:C5774194,OMIM:619989 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACO2 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACER3 Alkaline ceramidase 3 deficiency mondo_mondo_0044718_medgen_c4540358_omim_617762_orphanet_502444 MONDO:MONDO:0044718,MedGen:C4540358,OMIM:617762,Orphanet:502444 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE ACE-related disorder ace_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACBD6 Neurodevelopmental disorder with progressive movement abnormalities mondo_mondo_0968976_medgen_c5935606_omim_620785 MONDO:MONDO:0968976,MedGen:C5935606,OMIM:620785 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD12 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Progressive familial intrahepatic cholestasis type 1 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Familial intrahepatic cholestasis type 2 familial_intrahepatic_cholestasis_type_2 . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Cholestasis, intrahepatic, of pregnancy, 3 mondo_mondo_0013995_medgen_c3554241_omim_614972_orphanet_69665 MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Autosomal recessive ABCA4-related disorders autosomal_recessive_abca4_related_disorders . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 ABCA3-related disorder abca3_related_disorder . 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 5 5 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF526 Dentici-Novelli neurodevelopmental syndrome mondo_mondo_0859251_medgen_c5676987_omim_619877 MONDO:MONDO:0859251,MedGen:C5676987,OMIM:619877 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF518A Agammaglobulinemia 4, autosomal recessive mondo_mondo_0013289_medgen_c3150752_omim_613502 MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF462 ZNF462-related disorder znf462_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF408 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 ZNF292-related disorder znf292_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF142 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND11 ZMYND11-related disorder zmynd11_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMPSTE24 Restrictive dermopathy 1 mondo_mondo_0800042_medgen_c5676878_omim_275210 MONDO:MONDO:0800042,MedGen:C5676878,OMIM:275210 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC3 VACTERL association, X-linked, with or without hydrocephalus mondo_mondo_0010752_medgen_c2931228_omim_314390_orphanet_3412 MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390,Orphanet:3412 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFP57 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 ZFHX3-related disorder zfhx3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB25 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZAP70 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAZ Popov-Chang syndrome mondo_mondo_0979865_medgen_cn380660_omim_618428 MONDO:MONDO:0979865,MedGen:CN380660,OMIM:618428 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YRDC Galloway-Mowat syndrome 10 mondo_mondo_0030476_medgen_c5562020_omim_619609 MONDO:MONDO:0030476,MedGen:C5562020,OMIM:619609 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YIF1B condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XYLT1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XK condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Malignant tumor of esophagus mondo_mondo_0007576_medgen_c0546837_omim_133239_orphanet_99977 MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT7A Fuhrmann syndrome mondo_mondo_0009232_medgen_c1856728_omim_228930_orphanet_2854 MONDO:MONDO:0009232,MedGen:C1856728,OMIM:228930,Orphanet:2854 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT5A condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10A WNT10A-related disorder wnt10a_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WLS Zaki syndrome mondo_mondo_0859209_medgen_c5562037_omim_619648 MONDO:MONDO:0859209,MedGen:C5562037,OMIM:619648 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR83OS Hypercholanemia, familial mondo_mondo_0100327_medgen_c1843139_omim_ps607748 MONDO:MONDO:0100327,MedGen:C1843139,OMIM:PS607748 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR83 Hypercholanemia, familial mondo_mondo_0100327_medgen_c1843139_omim_ps607748 MONDO:MONDO:0100327,MedGen:C1843139,OMIM:PS607748 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 WDR62-related disorder wdr62_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Dysmorphism medgen_c1737329 MedGen:C1737329 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Developmental delay medgen_c0424605 MedGen:C0424605 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR11 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WBP4 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WBP11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASF1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASF1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WARS2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WARS2 Parkinsonism-dystonia 3, childhood-onset mondo_mondo_0030676_medgen_c5676913_omim_619738 MONDO:MONDO:0030676,MedGen:C5676913,OMIM:619738 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WARS1 Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities mondo_mondo_0957218_medgen_c5830413_omim_620317 MONDO:MONDO:0957218,MedGen:C5830413,OMIM:620317 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Reduced von Willebrand factor activity human_phenotype_ontology_hp_0008330_medgen_c4024701 Human_Phenotype_Ontology:HP:0008330,MedGen:C4024701 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS50 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis mondo_mondo_0859216_medgen_c5562052_omim_619685 MONDO:MONDO:0859216,MedGen:C5562052,OMIM:619685 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS4A condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS33B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA12 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Childhood Onset VCP-related Neurodevelopmental Disorder childhood_onset_vcp_related_neurodevelopmental_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP1 Spastic ataxia 1 mondo_mondo_0007164_medgen_c1970107_omim_108600_orphanet_251282 MONDO:MONDO:0007164,MedGen:C1970107,OMIM:108600,Orphanet:251282 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP8 Pituitary dependent hypercortisolism mondo_mondo_0009050_medgen_c0221406_omim_219090_orphanet_96253 MONDO:MONDO:0009050,MedGen:C0221406,OMIM:219090,Orphanet:96253 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP45 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP18 Pseudo-TORCH syndrome 2 mondo_mondo_0018828_medgen_c4479376_omim_617397_orphanet_481665 MONDO:MONDO:0018828,MedGen:C4479376,OMIM:617397,Orphanet:481665 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Autosomal recessive USH2A-related disorders autosomal_recessive_ush2a_related_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRC2 Mitochondrial complex III deficiency nuclear type 5 mondo_mondo_0014066_medgen_c3554608_omim_615160 MONDO:MONDO:0014066,MedGen:C3554608,OMIM:615160 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC79 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC45B Myofibrillar myopathy 11 mondo_mondo_0030927_medgen_c5543038_omim_619178 MONDO:MONDO:0030927,MedGen:C5543038,OMIM:619178 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFSP2 Spondyloepimetaphyseal dysplasia, di rocco type mondo_mondo_0060702_medgen_c4693799_omim_617974 MONDO:MONDO:0060702,MedGen:C4693799,OMIM:617974 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBTF condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR1 UBR1-related disorder ubr1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE4A Neurodevelopmental disorder with hypotonia and gross motor and speech delay mondo_mondo_0859207_medgen_c5562031_omim_619639 MONDO:MONDO:0859207,MedGen:C5562031,OMIM:619639 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE2T Fanconi anemia complementation group T mondo_mondo_0014638_medgen_c4084840_omim_616435_orphanet_84 MONDO:MONDO:0014638,MedGen:C4084840,OMIM:616435,Orphanet:84 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE2A condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP1L Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA5 UBA5-related disorder uba5_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA2 UBA2-related disorder uba2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYRP1 TYRP1-related disorder tyrp1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 TWIST1-related disorder twist1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 Robinow-Sorauf syndrome mondo_mondo_0008391_medgen_c1867146_omim_180750 MONDO:MONDO:0008391,MedGen:C1867146,OMIM:180750 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Leber congenital amaurosis 1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 TUBB3-related tubulinopathy mondo_mondo_0100154_medgen_cn322634 MONDO:MONDO:0100154,MedGen:CN322634 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Lissencephaly type 3 mondo_mondo_0015148_medgen_c1969029_orphanet_102011 MONDO:MONDO:0015148,MedGen:C1969029,Orphanet:102011 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Congenital titinopathy congenital_titinopathy . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC12 Ciliary dyskinesia, primary, 45 mondo_mondo_0032924_medgen_c5394104_omim_618801 MONDO:MONDO:0032924,MedGen:C5394104,OMIM:618801 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Myopathy caused by variation in POMGNT1 mondo_mondo_0700068_medgen_cn305639 MONDO:MONDO:0700068,MedGen:CN305639 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR Congenital hypothyroidism human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Tuberous sclerosis 1 mondo_mondo_0008612_medgen_c1854465_omim_191100_orphanet_805 MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Neuronopathy, distal hereditary motor, autosomal dominant mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Familial digital arthropathy-brachydactyly mondo_mondo_0011732_medgen_c1847406_omim_606835_orphanet_85169 MONDO:MONDO:0011732,MedGen:C1847406,OMIM:606835,Orphanet:85169 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Brachyrachia (short spine dysplasia) mondo_mondo_0007232_medgen_c0432227_omim_113500_orphanet_93304 MONDO:MONDO:0007232,MedGen:C0432227,OMIM:113500,Orphanet:93304 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM4 Progressive familial heart block type IB mondo_mondo_0011474_medgen_c1970298_omim_604559_orphanet_871 MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPC6 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIOBP TRIOBP-related disorder triobp_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM71 Hydrocephalus, congenital communicating, 1 mondo_mondo_0032862_medgen_c5231454_omim_618667 MONDO:MONDO:0032862,MedGen:C5231454,OMIM:618667 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM28 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM28 Predisposition to Wilms tumor predisposition_to_wilms_tumor . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC6B condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC4 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy mondo_mondo_0032894_medgen_c5394027_omim_618741 MONDO:MONDO:0032894,MedGen:C5394027,OMIM:618741 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC12 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC10 Neurodevelopmental disorder with microcephaly, short stature, and speech delay mondo_mondo_0859285_medgen_c5774211_omim_620027 MONDO:MONDO:0859285,MedGen:C5774211,OMIM:620027 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAK1 Developmental and epileptic encephalopathy, 68 mondo_mondo_0032598_medgen_c4748688_omim_618201 MONDO:MONDO:0032598,MedGen:C4748688,OMIM:618201 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 TPP1-related disorder tpp1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPI1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOGARAM1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT3 Arthrogryposis, distal, type 2B2 mondo_mondo_0032750_medgen_c5193097_omim_618435 MONDO:MONDO:0032750,MedGen:C5193097,OMIM:618435 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3K condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF13B Immunoglobulin A deficiency 2 mondo_mondo_0012291_medgen_c1836032_omim_609529 MONDO:MONDO:0012291,MedGen:C1836032,OMIM:609529 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like mondo_mondo_0031384_medgen_cn234876_omim_ps616744 MONDO:MONDO:0031384,MedGen:CN234876,OMIM:PS616744 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPPE GM1 gangliosidosis type 3 mondo_mondo_0009262_medgen_c0268273_omim_230650_orphanet_79257 MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650,Orphanet:79257 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPPE GM1 gangliosidosis type 2 mondo_mondo_0009261_medgen_c0268272_omim_230600_orphanet_354_orphanet_79256 MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600,Orphanet:354,Orphanet:79256 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMIE condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM63C Spastic paraplegia 87, autosomal recessive mondo_mondo_0031019_medgen_c5774182_omim_619966_orphanet_631088 MONDO:MONDO:0031019,MedGen:C5774182,OMIM:619966,Orphanet:631088 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM63B Developmental and epileptic encephalopathy 118 mondo_mondo_0979238_medgen_c6012741_omim_621250 MONDO:MONDO:0979238,MedGen:C6012741,OMIM:621250 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM237 TMEM237-related disorder tmem237_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM237 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM165 TMEM165-congenital disorder of glycosylation mondo_mondo_0013870_medgen_c3553571_omim_614727_orphanet_314667 MONDO:MONDO:0013870,MedGen:C3553571,OMIM:614727,Orphanet:314667 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM163 Leukodystrophy, hypomyelinating, 25 mondo_mondo_0859378_medgen_c5830275_omim_620243 MONDO:MONDO:0859378,MedGen:C5830275,OMIM:620243 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM138 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM127 Pheochromocytoma, susceptibility to medgen_c3149711 MedGen:C3149711 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC8 Epidermodysplasia verruciformis, susceptibility to, 2 mondo_mondo_0032614_medgen_c4722258_omim_618231 MONDO:MONDO:0032614,MedGen:C4722258,OMIM:618231 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TM2D3 TM2D3-related disorder tm2d3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLL1 Atrial septal defect 6 mondo_mondo_0013123_medgen_c2751315_omim_613087_orphanet_1478 MONDO:MONDO:0013123,MedGen:C2751315,OMIM:613087,Orphanet:1478 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TJP2 TJP2-related disorder tjp2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TJP2 Hypercholanemia, familial 1 mondo_mondo_0031446_medgen_c5542604_omim_607748_orphanet_238475 MONDO:MONDO:0031446,MedGen:C5542604,OMIM:607748,Orphanet:238475 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMP3 Sorsby fundus dystrophy mondo_mondo_0007640_medgen_c1850938_omim_136900_orphanet_59181 MONDO:MONDO:0007640,MedGen:C1850938,OMIM:136900,Orphanet:59181 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMP3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMMDC1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM8A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THSD1 Lymphatic malformation 13 mondo_mondo_0859379_medgen_c5830279_omim_620244 MONDO:MONDO:0859379,MedGen:C5830279,OMIM:620244 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Thyroid hormone resistance syndrome mondo_mondo_0001328_medgen_c2940786 MONDO:MONDO:0001328,MedGen:C2940786 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THPO Thrombocythemia 1 mondo_mondo_0008554_medgen_c3277671_omim_187950 MONDO:MONDO:0008554,MedGen:C3277671,OMIM:187950 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC6 THOC6-related disorder thoc6_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6 mondo_mondo_0013695_medgen_c1860896_omim_614331_orphanet_144 MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331,Orphanet:144 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Thiel-Behnke corneal dystrophy mondo_mondo_0011185_medgen_c1562894_omim_602082_orphanet_98960 MONDO:MONDO:0011185,MedGen:C1562894,OMIM:602082,Orphanet:98960 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Groenouw corneal dystrophy type I mondo_mondo_0007377_medgen_c1641846_omim_121900_orphanet_98962 MONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900,Orphanet:98962 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Epithelial-stromal TGFBI dystrophy mondo_mondo_0000764_medgen_cn322643 MONDO:MONDO:0000764,MedGen:CN322643 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Epithelial basement membrane dystrophy human_phenotype_ontology_hp_0007690_mondo_mondo_0007375_medgen_c0521723_omim_121820_orphanet_98956 Human_Phenotype_Ontology:HP:0007690,MONDO:MONDO:0007375,MedGen:C0521723,OMIM:121820,Orphanet:98956 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Avellino corneal dystrophy mondo_mondo_0011855_medgen_c1275685_omim_607541_orphanet_98963 MONDO:MONDO:0011855,MedGen:C1275685,OMIM:607541,Orphanet:98963 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB3 Loeys-Dietz syndrome mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Familial aortopathy familial_aortopathy MedGen:CN078214 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB1 Inflammatory bowel disease, immunodeficiency, and encephalopathy mondo_mondo_0032601_medgen_c4748708_omim_618213_orphanet_565788 MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213,Orphanet:565788 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFG condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFG Hereditary spastic paraplegia 57 mondo_mondo_0014295_medgen_c3714897_omim_615658_orphanet_431329 MONDO:MONDO:0014295,MedGen:C3714897,OMIM:615658,Orphanet:431329 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFG Hereditary motor and sensory neuropathy, Okinawa type mondo_mondo_0011468_medgen_c1858338_omim_604484_orphanet_90117 MONDO:MONDO:0011468,MedGen:C1858338,OMIM:604484,Orphanet:90117 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2B Patent ductus arteriosus 2 mondo_mondo_0014878_medgen_c4284595_omim_617035 MONDO:MONDO:0014878,MedGen:C4284595,OMIM:617035 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2B Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET3 TET3-related disorder tet3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 Myelodysplastic syndrome mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Dyskeratosis congenita, autosomal dominant 1 mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENM3 MICROPHTHALMIA, SYNDROMIC 15 medgen_c5193017 MedGen:C5193017 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Venous malformation human_phenotype_ontology_hp_0012721_medgen_c2937220 Human_Phenotype_Ontology:HP:0012721,MedGen:C2937220 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Segmental undergrowth associated with venous malformation without capillary component segmental_undergrowth_associated_with_venous_malformation_without_capillary_component . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDRD9 Spermatogenic failure 30 mondo_mondo_0020851_medgen_c4748224_omim_618110 MONDO:MONDO:0020851,MedGen:C4748224,OMIM:618110 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDRD12 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDP1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN3 TCTN3-related disorder tctn3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCP1 Intellectual developmental disorder with polymicrogyria and seizures mondo_mondo_0976124_medgen_c5975535_omim_621021 MONDO:MONDO:0976124,MedGen:C5975535,OMIM:621021 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCOF1 Treacher Collins syndrome mondo_mondo_0002457_medgen_c0242387_omim_ps154500_orphanet_861 MONDO:MONDO:0002457,MedGen:C0242387,OMIM:PS154500,Orphanet:861 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF7L2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF3 Agammaglobulinemia 8, autosomal dominant mondo_mondo_0014840_medgen_c4310786_omim_616941 MONDO:MONDO:0014840,MedGen:C4310786,OMIM:616941 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX6 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Autosomal recessive amelia mondo_mondo_0011054_medgen_c1832432_omim_601360_orphanet_1027 MONDO:MONDO:0011054,MedGen:C1832432,OMIM:601360,Orphanet:1027 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX22 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 Retinitis pigmentosa 100 mondo_mondo_0979574_medgen_c6012755_omim_621280 MONDO:MONDO:0979574,MedGen:C6012755,OMIM:621280 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 Orofaciodigital syndrome IX mondo_mondo_0009795_medgen_c0796102_omim_258865_orphanet_141007 MONDO:MONDO:0009795,MedGen:C0796102,OMIM:258865,Orphanet:141007 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TASP1 Suleiman-El-Hattab syndrome mondo_mondo_0033532_medgen_c5436458_omim_618950 MONDO:MONDO:0033532,MedGen:C5436458,OMIM:618950 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARS1 Trichothiodystrophy 7, nonphotosensitive mondo_mondo_0032806_medgen_c5231403_omim_618546 MONDO:MONDO:0032806,MedGen:C5231403,OMIM:618546 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPT1 Complex lethal osteochondrodysplasia mondo_mondo_0014821_medgen_c4225162_omim_616897_orphanet_457378 MONDO:MONDO:0014821,MedGen:C4225162,OMIM:616897,Orphanet:457378 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPBPL condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPBPL Spastic ataxia 1 mondo_mondo_0007164_medgen_c1970107_omim_108600_orphanet_251282 MONDO:MONDO:0007164,MedGen:C1970107,OMIM:108600,Orphanet:251282 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAP2 MHC class I deficiency 2 mondo_mondo_0971011_medgen_c5935617_omim_620813 MONDO:MONDO:0971011,MedGen:C5935617,OMIM:620813 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 Developmental delay medgen_c0424605 MedGen:C0424605 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Sorsby fundus dystrophy mondo_mondo_0007640_medgen_c1850938_omim_136900_orphanet_59181 MONDO:MONDO:0007640,MedGen:C1850938,OMIM:136900,Orphanet:59181 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVBP Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly mondo_mondo_0032816_medgen_c5231413_omim_618569 MONDO:MONDO:0032816,MedGen:C5231413,OMIM:618569 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUZ12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUOX condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUCLG1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX3 Retinal dystrophy and microvillus inclusion disease mondo_mondo_0859170_medgen_c5561943_omim_619446 MONDO:MONDO:0859170,MedGen:C5561943,OMIM:619446 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX11 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC Deafness-infertility syndrome mondo_mondo_0012621_medgen_c1970187_omim_611102_orphanet_94064 MONDO:MONDO:0012621,MedGen:C1970187,OMIM:611102,Orphanet:94064 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRADA condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Familial ovarian cancer mondo_mondo_0016248_medgen_c5679802 MONDO:MONDO:0016248,MedGen:C5679802 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT5B condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAC3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSBP1 Optic atrophy 13 with retinal and foveal abnormalities mondo_mondo_0008135_medgen_c5435585_omim_165510 MONDO:MONDO:0008135,MedGen:C5435585,OMIM:165510 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Congenital aneurysm of ascending aorta mondo_mondo_0024559_medgen_c0345050_omim_607086_orphanet_229 MONDO:MONDO:0024559,MedGen:C0345050,OMIM:607086,Orphanet:229 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Acute aortic dissection medgen_c0241868 MedGen:C0241868 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SREBF1 Hereditary mucoepithelial dysplasia mondo_mondo_0008017_medgen_c1274795_omim_158310_orphanet_1839 MONDO:MONDO:0008017,MedGen:C1274795,OMIM:158310,Orphanet:1839 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP SRCAP-related disorder srcap_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 SQSTM1-related disorder sqstm1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB Hereditary spherocytosis mondo_mondo_0019350_medgen_c0037889_orphanet_822 MONDO:MONDO:0019350,MedGen:C0037889,Orphanet:822 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED2 Noonan syndrome 14 mondo_mondo_0030679_medgen_c5676916_omim_619745 MONDO:MONDO:0030679,MedGen:C5676916,OMIM:619745 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOP Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies mondo_mondo_0032943_medgen_c5394221_omim_618829_orphanet_662175 MONDO:MONDO:0032943,MedGen:C5394221,OMIM:618829,Orphanet:662175 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG21 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPECC1L condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG8 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX4 Mild facial and digital morphological abnormalities mild_facial_and_digital_morphological_abnormalities . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX4 Developmental delay medgen_c0424605 MedGen:C0424605 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX18 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX18 Hypotrichosis-lymphedema-telangiectasia syndrome mondo_mondo_0011914_medgen_c1843004_omim_607823_orphanet_69735 MONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823,Orphanet:69735 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX11 Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Waardenburg syndrome type 2A mondo_mondo_0008671_medgen_c1860339_omim_193510_orphanet_3440 MONDO:MONDO:0008671,MedGen:C1860339,OMIM:193510,Orphanet:3440 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Monogenic hearing loss monogenic_hearing_loss . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX22 Osteogenesis imperfecta type 9 mondo_mondo_0009805_medgen_c1850169_omim_259440 MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX22 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNF8 Developmental and epileptic encephalopathy 115 mondo_mondo_0968946_medgen_c5935604_omim_620783 MONDO:MONDO:0968946,MedGen:C5935604,OMIM:620783 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPX Myopathy, distal, 7, adult-onset, X-linked mondo_mondo_0024771_medgen_c5676880_omim_301075_orphanet_700163 MONDO:MONDO:0024771,MedGen:C5676880,OMIM:301075,Orphanet:700163 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMN1 Spinal muscular atrophy, type IV mondo_mondo_0010056_medgen_c1838230_omim_271150_orphanet_83420 MONDO:MONDO:0010056,MedGen:C1838230,OMIM:271150,Orphanet:83420 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies mondo_mondo_0859274_medgen_c5774196_omim_619995 MONDO:MONDO:0859274,MedGen:C5774196,OMIM:619995 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 SMCHD1-related disorder smchd1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 SMARCB1-related disorder smarcb1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAD1 Adermatoglyphia human_phenotype_ontology_hp_0007455_mondo_mondo_0007619_medgen_c1852150_omim_136000_orphanet_289465 Human_Phenotype_Ontology:HP:0007455,MONDO:MONDO:0007619,MedGen:C1852150,OMIM:136000,Orphanet:289465 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 SMARCA2-related disorder smarca2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Radioulnar synostosis, nonsyndromic, susceptibility to mondo_mondo_0100183_medgen_c5241445_omim_179300 MONDO:MONDO:0100183,MedGen:C5241445,OMIM:179300 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLX4 Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK2 Intellectual developmental disorder, X-linked 111 mondo_mondo_0957203_medgen_c5829568_omim_301107 MONDO:MONDO:0957203,MedGen:C5829568,OMIM:301107 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A3 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A19 Iminoglycinuria mondo_mondo_0009448_medgen_c0268654_omim_242600_orphanet_42062 MONDO:MONDO:0009448,MedGen:C0268654,OMIM:242600,Orphanet:42062 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC40A1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A8 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A7 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A1 SLC35A1-congenital disorder of glycosylation mondo_mondo_0011342_medgen_c1970344_omim_603585_orphanet_238459 MONDO:MONDO:0011342,MedGen:C1970344,OMIM:603585,Orphanet:238459 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A10 Familial aortopathy familial_aortopathy MedGen:CN078214 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A5 Autosomal recessive nonsyndromic hearing loss 61 mondo_mondo_0013471_medgen_c3151230_omim_613865_orphanet_90636 MONDO:MONDO:0013471,MedGen:C3151230,OMIM:613865,Orphanet:90636 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 3MC syndrome 2 mondo_mondo_0009927_medgen_c0796279_omim_265050_orphanet_293843 MONDO:MONDO:0009927,MedGen:C0796279,OMIM:265050,Orphanet:293843 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A46 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant mondo_mondo_0014959_medgen_c4310676_omim_617184 MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A3 Cardiomyopathy-hypotonia-lactic acidosis syndrome mondo_mondo_0012557_medgen_c1835845_omim_610773_orphanet_91130 MONDO:MONDO:0012557,MedGen:C1835845,OMIM:610773,Orphanet:91130 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A22 Developmental and epileptic encephalopathy, 3 mondo_mondo_0012245_medgen_c5574665_omim_609304 MONDO:MONDO:0012245,MedGen:C5574665,OMIM:609304 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A19 Amish lethal microcephaly mondo_mondo_0011790_medgen_c1846648_omim_607196_orphanet_99742 MONDO:MONDO:0011790,MedGen:C1846648,OMIM:607196,Orphanet:99742 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A15 SLC25A15-related disorder slc25a15_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A1 Myasthenic syndrome, congenital, 23, presynaptic mondo_mondo_0032596_medgen_c4748678_omim_618197 MONDO:MONDO:0032596,MedGen:C4748678,OMIM:618197 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A1 2-hydroxyglutaric aciduria mondo_mondo_0016001_medgen_c2746066_orphanet_19_orphanet_356978 MONDO:MONDO:0016001,MedGen:C2746066,Orphanet:19,Orphanet:356978 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A4 Amelogenesis imperfecta hypomaturation type 2A5 mondo_mondo_0014385_medgen_c4014578_omim_615887_orphanet_88661 MONDO:MONDO:0014385,MedGen:C4014578,OMIM:615887,Orphanet:88661 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC18A2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A1 Monocarboxylate transporter 1 deficiency, autosomal dominant medgen_c4016684 MedGen:C4016684 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A3 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate mondo_mondo_0032716_medgen_c5193068_omim_618384_orphanet_615964 MONDO:MONDO:0032716,MedGen:C5193068,OMIM:618384,Orphanet:615964 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 SLC12A6-related disorder slc12a6_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX6 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome mondo_mondo_0008927_medgen_c4225424_omim_212550_orphanet_435930 MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550,Orphanet:435930 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3A SIN3A-related intellectual disability syndrome mondo_mondo_0044699_medgen_cn258628_orphanet_500163 MONDO:MONDO:0044699,MedGen:CN258628,Orphanet:500163 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIM1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIM1 SIM1-related disorder sim1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Noonan syndrome-like disorder with loose anagen hair 1 mondo_mondo_0054637_medgen_c4478716_omim_607721_orphanet_2701 MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721,Orphanet:2701 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPA1 Interstitial lung disease 1 mondo_mondo_0030608_medgen_c5562021_omim_619611 MONDO:MONDO:0030608,MedGen:C5562021,OMIM:619611 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINH1 Osteogenesis imperfecta type 10 mondo_mondo_0013459_medgen_c3151211_omim_613848_orphanet_666 MONDO:MONDO:0013459,MedGen:C3151211,OMIM:613848,Orphanet:666 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPING1 SERPING1-related disorder serping1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON Congenital myopathy 4A, autosomal dominant mondo_mondo_0800341_medgen_cn178536_omim_255310 MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENOI Spastic paraplegia 81, autosomal recessive mondo_mondo_0032905_medgen_c5394033_omim_618768 MONDO:MONDO:0032905,MedGen:C5394033,OMIM:618768 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENBP1 Extraoral halitosis due to methanethiol oxidase deficiency mondo_mondo_0029144_medgen_c4748387_omim_618148 MONDO:MONDO:0029144,MedGen:C4748387,OMIM:618148 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC61A1 Hyperuricemic nephropathy, familial juvenile type 4 mondo_mondo_0014891_medgen_c4310741_omim_617056 MONDO:MONDO:0014891,MedGen:C4310741,OMIM:617056 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1G Pseudohypoaldosteronism, type IB3, autosomal recessive mondo_mondo_0859318_medgen_c5774256_omim_620126 MONDO:MONDO:0859318,MedGen:C5774256,OMIM:620126 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1B SCNN1B-related disorder scnn1b_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Paramyotonia congenita/hyperkalemic periodic paralysis medgen_c1858891 MedGen:C1858891 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A unclassified developmental and epileptic encephalopathy unclassified_developmental_and_epileptic_encephalopathy . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A SCN2A-related generalized epilepsy with febrile seizures plus scn2a_related_generalized_epilepsy_with_febrile_seizures_plus MedGen:CN120574 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Generalized epilepsy with febrile seizures plus mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Febrile seizures, familial, 3a mondo_mondo_0800329_medgen_c2751756 MONDO:MONDO:0800329,MedGen:C2751756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN11A Hereditary sensory and autonomic neuropathy type 7 mondo_mondo_0014244_medgen_c3809882_omim_615548_orphanet_391397 MONDO:MONDO:0014244,MedGen:C3809882,OMIM:615548,Orphanet:391397 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER SCAPER-related disorder scaper_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS SBDS-related disorder sbds_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH3 Immunodeficiency 102 mondo_mondo_0024781_medgen_c5676886_omim_301082_orphanet_653751 MONDO:MONDO:0024781,MedGen:C5676886,OMIM:301082,Orphanet:653751 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9 Monosomy 7 myelodysplasia and leukemia syndrome 2 mondo_mondo_0030801_medgen_c5436668_omim_619041 MONDO:MONDO:0030801,MedGen:C5436668,OMIM:619041 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Autosomal recessive spastic ataxia mondo_mondo_0017847_medgen_c5679900_orphanet_316240 MONDO:MONDO:0017847,MedGen:C5679900,Orphanet:316240 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 RYR2-related disorder ryr2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Myopathy, RYR1-associated myopathy_ryr1_associated . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTTN Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN2 Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity mondo_mondo_0971150_medgen_c5935630_omim_620854 MONDO:MONDO:0971150,MedGen:C5935630,OMIM:620854 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH9 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH9 Primary ciliary dyskinesia 12 mondo_mondo_0012979_medgen_c2675228_omim_612650_orphanet_244 MONDO:MONDO:0012979,MedGen:C2675228,OMIM:612650,Orphanet:244 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Developmental and epileptic encephalopathy, 2 mondo_mondo_0010396_medgen_c4750718_omim_300672_orphanet_1934_orphanet_3451_orphanet_505652 MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAGD Hypomagnesemia 7, renal, with or without dilated cardiomyopathy mondo_mondo_0859328_medgen_c5774266_omim_620152 MONDO:MONDO:0859328,MedGen:C5774266,OMIM:620152 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAGC Long-Olsen-Distelmaier syndrome mondo_mondo_0957960_medgen_c5882721_omim_620609 MONDO:MONDO:0957960,MedGen:C5882721,OMIM:620609 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS26 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS20 condition not provided condition_not_provided MedGen:CN169374 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS19 RPS19-related disorder rps19_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL13 Spondyloepimetaphyseal dysplasia human_phenotype_ontology_hp_0002651_mondo_mondo_0100510_medgen_c0432211 Human_Phenotype_Ontology:HP:0002651,MONDO:MONDO:0100510,MedGen:C0432211 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU12 Spinocerebellar ataxia, autosomal recessive 33 mondo_mondo_0859360_medgen_c5774297_omim_620208 MONDO:MONDO:0859360,MedGen:C5774297,OMIM:620208 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU12 Craniosynostosis-anal anomalies-porokeratosis syndrome mondo_mondo_0011287_medgen_c1864186_omim_603116_orphanet_85199 MONDO:MONDO:0011287,MedGen:C1864186,OMIM:603116,Orphanet:85199 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF14 Diencephalic-mesencephalic junction dysplasia mondo_mondo_0017868_medgen_c4707858_omim_ps251280_orphanet_319192 MONDO:MONDO:0017868,MedGen:C4707858,OMIM:PS251280,Orphanet:319192 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK1 Autoinflammation with episodic fever and lymphadenopathy mondo_mondo_0030018_medgen_c5394286_omim_618852 MONDO:MONDO:0030018,MedGen:C5394286,OMIM:618852 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOBTB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHEB condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHCE RH-NULL, AMORPH TYPE medgen_c4693796_omim_617970 MedGen:C4693796,OMIM:617970 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX6 RFX6-related disorder rfx6_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RETREG1 Hereditary sensory and autonomic neuropathy type 2 mondo_mondo_0019941_medgen_c0020072_orphanet_970 MONDO:MONDO:0019941,MedGen:C0020072,Orphanet:970 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RETREG1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REST REST-related disorder rest_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 Neuronopathy, distal hereditary motor, type 5B mondo_mondo_0013884_medgen_c3553656_omim_614751_orphanet_139536 MONDO:MONDO:0013884,MedGen:C3553656,OMIM:614751,Orphanet:139536 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 RDH12-related disorder rdh12_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCC1 condition not provided condition_not_provided . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBBP8 Jawad syndrome mondo_mondo_0009622_medgen_c0796063_omim_251255_orphanet_313795 MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255,Orphanet:313795 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARB Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Familial acute necrotizing encephalopathy mondo_mondo_0011953_medgen_c2675556_omim_608033_orphanet_88619 MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant medgen_c3551587 MedGen:C3551587 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Severe combined immunodeficiency, B cell-negative medgen_c1867362 MedGen:C1867362 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency atypical_severe_combined_immunodeficiency_due_to_complete_rag1_2_deficiency . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 RAF1-related disorder raf1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Inherited ovarian cancer (without breast cancer) inherited_ovarian_cancer_without_breast_cancer . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC2 Neutrophil immunodeficiency syndrome mondo_mondo_0011988_medgen_c1842398_omim_608203_orphanet_183707 MONDO:MONDO:0011988,MedGen:C1842398,OMIM:608203,Orphanet:183707 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB7A Charcot-Marie-Tooth disease type 2B mondo_mondo_0010949_medgen_c1833219_omim_600882_orphanet_99936 MONDO:MONDO:0010949,MedGen:C1833219,OMIM:600882,Orphanet:99936 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB39B condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB34 Orofaciodigital syndrome 20 mondo_mondo_0958230_medgen_c5935578_omim_620718 MONDO:MONDO:0958230,MedGen:C5935578,OMIM:620718 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Charcot-Marie-Tooth disease X-linked recessive 4 mondo_mondo_0010689_medgen_c0795910_omim_310490_orphanet_101078 MONDO:MONDO:0010689,MedGen:C0795910,OMIM:310490,Orphanet:101078 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter mondo_mondo_0060624_medgen_c4540498_omim_617807 MONDO:MONDO:0060624,MedGen:C4540498,OMIM:617807 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH1 Ververi-Brady syndrome 1 mondo_mondo_0060707_medgen_cn379926_omim_617982_orphanet_580940 MONDO:MONDO:0060707,MedGen:CN379926,OMIM:617982,Orphanet:580940 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUM1 PUM1-associated developmental disability-ataxia-seizure syndrome mondo_mondo_0958231_medgen_cn376901_orphanet_589515 MONDO:MONDO:0958231,MedGen:CN376901,Orphanet:589515 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRHD1 Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities mondo_mondo_0958323_medgen_c5935590_omim_620747 MONDO:MONDO:0958323,MedGen:C5935590,OMIM:620747 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ PTPRQ-related disorder ptprq_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Hearing loss, autosomal dominant 73 mondo_mondo_0033260_medgen_c4540024_omim_617663 MONDO:MONDO:0033260,MedGen:C4540024,OMIM:617663 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH Hypoparathyroidism, familial isolated 1 mondo_mondo_0007796_medgen_c5241444_omim_146200 MONDO:MONDO:0007796,MedGen:C5241444,OMIM:146200 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTF1A Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome mondo_mondo_0012192_medgen_c1836780_omim_609069_orphanet_65288 MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCHD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSPH Deficiency of phosphoserine phosphatase mondo_mondo_0013531_medgen_c1291463_omim_614023_orphanet_79350 MONDO:MONDO:0013531,MedGen:C1291463,OMIM:614023,Orphanet:79350 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3IP Ovarian dysgenesis 3 mondo_mondo_0013689_medgen_c3280471_omim_614324_orphanet_243 MONDO:MONDO:0013689,MedGen:C3280471,OMIM:614324,Orphanet:243 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 PSEN1-related disorder psen1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Dementia human_phenotype_ontology_hp_0000726_human_phenotype_ontology_hp_0002274_human_phenotype_ontology_hp_0007122_human_phenotype_ontology_hp_0007150_human_phenotype_ontology_hp_0007283_mondo_mondo_0001627_medgen_c0497327 Human_Phenotype_Ontology:HP:0000726,Human_Phenotype_Ontology:HP:0002274,Human_Phenotype_Ontology:HP:0007122,Human_Phenotype_Ontology:HP:0007150,Human_Phenotype_Ontology:HP:0007283,MONDO:MONDO:0001627,MedGen:C0497327 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX PRX-related disorder prx_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Autosomal recessive Dejerine-Sottas syndrome autosomal_recessive_dejerine_sottas_syndrome MedGen:CN069172 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRUNE1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS23 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 complex microphthalmia complex_microphthalmia . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF31 PRPF31-related disorder prpf31_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROP1 Pituitary hormone deficiency pituitary_hormone_deficiency . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Thromboembolism human_phenotype_ontology_hp_0001907_medgen_c0040038 Human_Phenotype_Ontology:HP:0001907,MedGen:C0040038 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Hereditary thrombophilia due to congenital protein C deficiency mondo_mondo_0019145_medgen_c0598221_orphanet_745 MONDO:MONDO:0019145,MedGen:C0598221,Orphanet:745 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Deep venous thrombosis human_phenotype_ontology_hp_0002625_mesh_d020246_medgen_c0149871 Human_Phenotype_Ontology:HP:0002625,MeSH:D020246,MedGen:C0149871 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED medgen_c3805618 MedGen:C3805618 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Young-onset Parkinson disease mondo_mondo_0017279_medgen_c4275179_orphanet_2828 MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1B Marbach-Schaaf neurodevelopmental syndrome mondo_mondo_0859214_medgen_c5562050_omim_619680_orphanet_692173 MONDO:MONDO:0859214,MedGen:C5562050,OMIM:619680,Orphanet:692173 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Pigmented nodular adrenocortical disease, primary, 1 mondo_mondo_0012509_medgen_c1864846_omim_610489_orphanet_189439 MONDO:MONDO:0012509,MedGen:C1864846,OMIM:610489,Orphanet:189439 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A PRKAR1A-related disorder prkar1a_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Carney complex mondo_mondo_0015285_medgen_c0406810_orphanet_1359 MONDO:MONDO:0015285,MedGen:C0406810,Orphanet:1359 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRICKLE2 condition not provided condition_not_provided . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM5 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5C condition not provided condition_not_provided .|MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R12A PPP1R12A-related disorder ppp1r12a_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIA3 PAUL-CHAO NEURODEVELOPMENTAL SYNDROME medgen_c6012758_omim_621122 MedGen:C6012758,OMIM:621122 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPCS Cardiomyopathy, dilated, 2c mondo_mondo_0032592_medgen_c4748647_omim_618189 MONDO:MONDO:0032592,MedGen:C4748647,OMIM:618189 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PORCN PORCN-related disorder porcn_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PORCN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR POR-related disorder por_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POPDC1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 POMT2-related disorder pomt2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMK condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Autosomal recessive POLR3A-related disorders autosomal_recessive_polr3a_related_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Waardenburg syndrome type 2A mondo_mondo_0008671_medgen_c1860339_omim_193510_orphanet_3440 MONDO:MONDO:0008671,MedGen:C1860339,OMIM:193510,Orphanet:3440 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Monogenic hearing loss monogenic_hearing_loss . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1B Treacher Collins syndrome 4 mondo_mondo_0030067_medgen_c5394546_omim_618939 MONDO:MONDO:0030067,MedGen:C5394546,OMIM:618939 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLH Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLD1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLD1 Colorectal cancer, susceptibility to, 10 mondo_mondo_0012953_medgen_c2675481_omim_612591_orphanet_220460 MONDO:MONDO:0012953,MedGen:C2675481,OMIM:612591,Orphanet:220460 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGLUT1 Dowling-Degos disease 4 mondo_mondo_0014307_medgen_c3810313_omim_615696_orphanet_79145 MONDO:MONDO:0014307,MedGen:C3810313,OMIM:615696,Orphanet:79145 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMVK Porokeratosis 1, Mibelli type mondo_mondo_0008290_medgen_cn297066_omim_175800 MONDO:MONDO:0008290,MedGen:CN297066,OMIM:175800 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT medgen_c4016264 MedGen:C4016264 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXNA1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLVAP Diarrhea 10, protein-losing enteropathy type mondo_mondo_0032586_medgen_c4748579_omim_618183 MONDO:MONDO:0032586,MedGen:C4748579,OMIM:618183 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCD1 Nonsyndromic congenital nail disorder 3 mondo_mondo_0007900_medgen_c0544855_omim_151600 MONDO:MONDO:0007900,MedGen:C0544855,OMIM:151600 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Hyperechogenic kidneys human_phenotype_ontology_hp_0004719_medgen_c3275899 Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Enlarged kidney human_phenotype_ontology_hp_0000105_medgen_c0542518 Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Biliary tract abnormality human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Anhydramnios human_phenotype_ontology_hp_0025700_medgen_c0730379 Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PJVK Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PJVK Deafness medgen_c0011053 MedGen:C0011053 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX3 Cataract 11 multiple types mondo_mondo_0012527_medgen_c1864567_omim_610623_orphanet_91492 MONDO:MONDO:0012527,MedGen:C1864567,OMIM:610623,Orphanet:91492 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PISD Liberfarb syndrome mondo_mondo_0030045_medgen_c5394404_omim_618889_orphanet_589442 MONDO:MONDO:0030045,MedGen:C5394404,OMIM:618889,Orphanet:589442 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PINK1 PINK1-related disorder pink1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 PIK3R1-related disorder pik3r1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Segmental undergrowth associated with mainly venous malformation with capillary component segmental_undergrowth_associated_with_mainly_venous_malformation_with_capillary_component . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Rare venous malformation medgen_c0265950_orphanet_211252 MedGen:C0265950,Orphanet:211252 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Congenital macrodactylia human_phenotype_ontology_hp_0004099_mondo_mondo_0007962_medgen_c0265552_omim_155500 Human_Phenotype_Ontology:HP:0004099,MONDO:MONDO:0007962,MedGen:C0265552,OMIM:155500 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Breast adenocarcinoma mondo_mondo_0004988_medgen_c0858252 MONDO:MONDO:0004988,MedGen:C0858252 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KB Hearing loss, autosomal dominant 87 mondo_mondo_0859525_medgen_c5830342_omim_620281 MONDO:MONDO:0859525,MedGen:C5830342,OMIM:620281 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KA Gastrointestinal defects and immunodeficiency syndrome 2 mondo_mondo_0030669_medgen_c5676901_omim_619708 MONDO:MONDO:0030669,MedGen:C5676901,OMIM:619708 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKG2 Glycogen phosphorylase kinase deficiency mondo_mondo_0700291_medgen_c0268147_orphanet_370 MONDO:MONDO:0700291,MedGen:C0268147,Orphanet:370 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP Early onset severe obesity medgen_c4013980 MedGen:C4013980 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGBD5 Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity mondo_mondo_0980968_medgen_cn380858_omim_621482 MONDO:MONDO:0980968,MedGen:CN380858,OMIM:621482 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFN1 Amyotrophic lateral sclerosis type 18 mondo_mondo_0013891_medgen_c3553719_omim_614808_orphanet_803 MONDO:MONDO:0013891,MedGen:C3553719,OMIM:614808,Orphanet:803 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX3 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX16 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX16 Peroxisome biogenesis disorder 8A (Zellweger) mondo_mondo_0013942_medgen_c3553959_omim_614876_orphanet_912 MONDO:MONDO:0013942,MedGen:C3553959,OMIM:614876,Orphanet:912 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX13 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX13 PEX13-related disorder pex13_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX12 Peroxisomal biogenesis disorder 3b medgen_c3551381 MedGen:C3551381 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Peroxisome biogenesis disorder due to PEX1 defect mondo_mondo_0100259_medgen_cn305475 MONDO:MONDO:0100259,MedGen:CN305475 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PERP Olmsted syndrome 2 mondo_mondo_0030961_medgen_c5543096_omim_619208 MONDO:MONDO:0030961,MedGen:C5543096,OMIM:619208 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD9 Mitochondrial complex III deficiency nuclear type 5 mondo_mondo_0014066_medgen_c3554608_omim_615160 MONDO:MONDO:0014066,MedGen:C3554608,OMIM:615160 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 PDZD7-related disorder pdzd7_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDSS2 Coenzyme Q10 deficiency, primary, 3 mondo_mondo_0013838_medgen_c3553358_omim_614652_orphanet_255249 MONDO:MONDO:0013838,MedGen:C3553358,OMIM:614652,Orphanet:255249 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDP1 Pyruvate dehydrogenase phosphatase deficiency mondo_mondo_0012120_medgen_c1837429_omim_608782_orphanet_79246 MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782,Orphanet:79246 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE8B Autosomal dominant striatal neurodegeneration type 1 mondo_mondo_0012205_medgen_c4310808_omim_609161_orphanet_228169 MONDO:MONDO:0012205,MedGen:C4310808,OMIM:609161,Orphanet:228169 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE1C Hearing loss, autosomal dominant 74 mondo_mondo_0029137_medgen_c4748334_omim_618140 MONDO:MONDO:0029137,MedGen:C4748334,OMIM:618140 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE10A condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK9 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCLO Pontocerebellar hypoplasia type 3 mondo_mondo_0011948_medgen_c1842687_omim_608027_orphanet_97249 MONDO:MONDO:0011948,MedGen:C1842687,OMIM:608027,Orphanet:97249 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH12 Diencephalic-mesencephalic junction dysplasia mondo_mondo_0017868_medgen_c4707858_omim_ps251280_orphanet_319192 MONDO:MONDO:0017868,MedGen:C4707858,OMIM:PS251280,Orphanet:319192 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCBD1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX9 PAX9-related disorder pax9_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX8 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Isolated optic nerve hypoplasia mondo_mondo_0008136_medgen_c1833797_omim_165550_orphanet_637061 MONDO:MONDO:0008136,MedGen:C1833797,OMIM:165550,Orphanet:637061 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Congenital aniridia human_phenotype_ontology_hp_0000526_mondo_mondo_0019172_medgen_c0003076 Human_Phenotype_Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Coloboma of optic nerve human_phenotype_ontology_hp_0000588_human_phenotype_ontology_hp_0007997_mondo_mondo_0007354_medgen_c0155299_omim_120430_orphanet_35737_orphanet_98947 Human_Phenotype_Ontology:HP:0000588,Human_Phenotype_Ontology:HP:0007997,MONDO:MONDO:0007354,MedGen:C0155299,OMIM:120430,Orphanet:35737,Orphanet:98947 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Autosomal dominant keratitis mondo_mondo_0007848_medgen_c1835698_omim_148190_orphanet_2334 MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Congenital anomalies of kidney and urinary tract 1 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARS2 Developmental and epileptic encephalopathy, 75 mondo_mondo_0032752_medgen_c5193099_omim_618437 MONDO:MONDO:0032752,MedGen:C5193099,OMIM:618437 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARN Familial Interstitial Pneumonia familial_interstitial_pneumonia . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARK7 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANX1 Oocyte maturation defect 7 mondo_mondo_0032810_medgen_c5231407_omim_618550 MONDO:MONDO:0032810,MedGen:C5231407,OMIM:618550 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PADI3 Uncombable hair syndrome 1 mondo_mondo_0020736_medgen_c4551573_omim_191480_orphanet_1410 MONDO:MONDO:0020736,MedGen:C4551573,OMIM:191480,Orphanet:1410 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PADI3 Central centrifugal cicatricial alopecia mondo_mondo_0022113_medgen_c1274708_omim_618352 MONDO:MONDO:0022113,MedGen:C1274708,OMIM:618352 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPN1 Oculopharyngeal muscular dystrophy mondo_mondo_0008116_medgen_c0270952_omim_ps164300_orphanet_270 MONDO:MONDO:0008116,MedGen:C0270952,OMIM:PS164300,Orphanet:270 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HA2 Myopia 25, autosomal dominant mondo_mondo_0014982_medgen_c4310655_omim_617238 MONDO:MONDO:0014982,MedGen:C4310655,OMIM:617238 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RX2 Autosomal dominant nonsyndromic hearing loss 41 mondo_mondo_0011994_medgen_c1842371_omim_608224_orphanet_90635 MONDO:MONDO:0011994,MedGen:C1842371,OMIM:608224,Orphanet:90635 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXGR1 Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis mondo_mondo_0958191_medgen_c5830516_omim_620374 MONDO:MONDO:0958191,MedGen:C5830516,OMIM:620374 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OVOL2 Posterior polymorphous corneal dystrophy 1 gene_8197_mondo_mondo_0007378_medgen_c1852555_omim_122000_orphanet_98973 Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000,Orphanet:98973 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTULIN Craniometaphyseal dysplasia, autosomal dominant mondo_mondo_0007397_medgen_c1852502_omim_123000_orphanet_1522 MONDO:MONDO:0007397,MedGen:C1852502,OMIM:123000,Orphanet:1522 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD6B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD6B Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD6B Dysmorphic features medgen_c0432072 MedGen:C0432072 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Tricho-oculo-dermo-vertebral syndrome mondo_mondo_0011131_medgen_c1866427_omim_601701_orphanet_3354 MONDO:MONDO:0011131,MedGen:C1866427,OMIM:601701,Orphanet:3354 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSGEP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OR10Z1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPN1MW Deuteranomaly human_phenotype_ontology_hp_0011520_medgen_c3887938_omim_303800 Human_Phenotype_Ontology:HP:0011520,MedGen:C3887938,OMIM:303800 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPLAH OPLAH-related disorder oplah_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSL1 OBSL1-related disorder obsl1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP85 Nephrotic syndrome, type 17 mondo_mondo_0032580_medgen_c4748545_omim_618176 MONDO:MONDO:0032580,MedGen:C4748545,OMIM:618176 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP37 Microcephaly 24, primary, autosomal recessive mondo_mondo_0032583_medgen_c4748555_omim_618179 MONDO:MONDO:0032583,MedGen:C4748555,OMIM:618179 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 Encephalopathy, acute, infection-induced, susceptibility to, 9 mondo_mondo_0032742_medgen_c5193089_omim_618426 MONDO:MONDO:0032742,MedGen:C5193089,OMIM:618426 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP160 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 NUP107-related disorder nup107_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK2 Developmental and epileptic encephalopathy, 58 mondo_mondo_0033367_medgen_c4693367_omim_617830 MONDO:MONDO:0033367,MedGen:C4693367,OMIM:617830 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSRP1 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities mondo_mondo_0859275_medgen_c5774197_omim_620001 MONDO:MONDO:0859275,MedGen:C5774197,OMIM:620001 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 Wolf-Hirschhorn like syndrome wolf_hirschhorn_like_syndrome . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS NRAS-related disorder nras_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Autoimmune lymphoproliferative syndrome type 4 mondo_mondo_0013767_medgen_c2674723_omim_614470_orphanet_268114 MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAP condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Spermatogenic failure 8 mondo_mondo_0013504_medgen_c3151406_omim_613957 MONDO:MONDO:0013504,MedGen:C3151406,OMIM:613957 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 46,XX sex reversal 4 mondo_mondo_0060489_medgen_c4479552_omim_617480 MONDO:MONDO:0060489,MedGen:C4479552,OMIM:617480 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C2 NR3C2-related disorder nr3c2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Sphingomyelin/cholesterol lipidosis mondo_mondo_0001982_medgen_c0028064 MONDO:MONDO:0001982,MedGen:C0028064 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Niemann-Pick disease, type C1, juvenile form medgen_c4017106 MedGen:C4017106 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 mondo_mondo_0979867_medgen_cn379785_omim_621295 MONDO:MONDO:0979867,MedGen:CN379785,OMIM:621295 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH2 NOTCH2-related disorder notch2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Hypoplastic left heart syndrome human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG Tarsal-carpal coalition syndrome mondo_mondo_0008521_medgen_c1861305_omim_186570_orphanet_1412 MONDO:MONDO:0008521,MedGen:C1861305,OMIM:186570,Orphanet:1412 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG NOG-related disorder nog_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NODAL condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP2 Oocyte/zygote/embryo maturation arrest 18 mondo_mondo_0957230_medgen_c5830441_omim_620332 MONDO:MONDO:0957230,MedGen:C5830441,OMIM:620332 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN4X condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN4X Autism, susceptibility to, X-linked 2 mondo_mondo_0010341_medgen_c1845539_omim_300495 MONDO:MONDO:0010341,MedGen:C1845539,OMIM:300495 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia mondo_mondo_0013228_medgen_c2750066_omim_613330_orphanet_228387 MONDO:MONDO:0013228,MedGen:C2750066,OMIM:613330,Orphanet:228387 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-6 Conotruncal heart malformations mondo_mondo_0016581_medgen_c1857586_omim_217095_orphanet_2445_orphanet_3384_orphanet_3426 MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPA1 Hereditary spastic paraplegia 6 mondo_mondo_0010878_medgen_c1838192_omim_600363_orphanet_100988 MONDO:MONDO:0010878,MedGen:C1838192,OMIM:600363,Orphanet:100988 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NICN1 Glycine encephalopathy 1 mondo_mondo_0958179_medgen_cn376801_omim_605899 MONDO:MONDO:0958179,MedGen:CN376801,OMIM:605899 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX NFIX-related disorder nfix_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA NFIA-related disorder nfia_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFE2L2 Immunodeficiency, developmental delay, and hypohomocysteinemia mondo_mondo_0060591_medgen_c4540293_omim_617744 MONDO:MONDO:0060591,MedGen:C4540293,OMIM:617744 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 Familial meningioma mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXMIF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROG1 Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay mondo_mondo_0957563_medgen_c5882675_omim_620469 MONDO:MONDO:0957563,MedGen:C5882675,OMIM:620469 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEU1 Sialidosis type 1 mondo_mondo_0019346_medgen_c0023806_orphanet_812 MONDO:MONDO:0019346,MedGen:C0023806,Orphanet:812 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK8 NEK8-related disorder nek8_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEIL1 Congenital disorder of deglycosylation 2 mondo_mondo_0030770_medgen_c5676931_omim_619775 MONDO:MONDO:0030770,MedGen:C5676931,OMIM:619775 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFH condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFH Charcot-Marie-Tooth disease axonal type 2CC mondo_mondo_0014836_medgen_c4310790_omim_616924 MONDO:MONDO:0014836,MedGen:C4310790,OMIM:616924 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NECAP1 Developmental and epileptic encephalopathy, 21 mondo_mondo_0014360_medgen_c4014430_omim_615833_orphanet_442835 MONDO:MONDO:0014360,MedGen:C4014430,OMIM:615833,Orphanet:442835 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 NDUFV1-related disorder ndufv1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS3 Mitochondrial complex I deficiency, nuclear type 8 mondo_mondo_0032613_medgen_c4748766_omim_618230 MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS1 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB8 Mitochondrial complex I deficiency, nuclear type 32 mondo_mondo_0032635_medgen_c4748839_omim_618252 MONDO:MONDO:0032635,MedGen:C4748839,OMIM:618252 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF8 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDST1 Intellectual disability, autosomal recessive 46 mondo_mondo_0014499_medgen_c4015283_omim_616116_orphanet_88616 MONDO:MONDO:0014499,MedGen:C4015283,OMIM:616116,Orphanet:88616 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDRG1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 NDE1-related microhydranencephaly mondo_mondo_0011504_medgen_c1857977_omim_605013_orphanet_443162 MONDO:MONDO:0011504,MedGen:C1857977,OMIM:605013,Orphanet:443162 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS2 Hearing loss, autosomal recessive 94 mondo_mondo_0032749_medgen_c5193096_omim_618434 MONDO:MONDO:0032749,MedGen:C5193096,OMIM:618434 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGA Alpha-N-acetylgalactosaminidase deficiency mondo_mondo_0017779_medgen_c5848084_orphanet_3137 MONDO:MONDO:0017779,MedGen:C5848084,Orphanet:3137 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NADSYN1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L Early onset severe obesity medgen_c4013980 MedGen:C4013980 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Congenital diaphragmatic hernia human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYPN MYPN-related disorder mypn_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Monogenic hearing loss monogenic_hearing_loss . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Deafness medgen_c0011053 MedGen:C0011053 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5B DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS diarrhea_2_with_microvillus_atrophy_and_cholestasis . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO3A Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO3A MYO3A-related disorder myo3a_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO1H Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction mondo_mondo_0030537_medgen_c5561963_omim_619482 MONDO:MONDO:0030537,MedGen:C5561963,OMIM:619482 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO1E Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO18B MYO18B-related disorder myo18b_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL11 Distal arthrogryposis human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL11 Arthrogryposis, distal, type 1C mondo_mondo_0030847_medgen_c5436834_omim_619110 MONDO:MONDO:0030847,MedGen:C5436834,OMIM:619110 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Left ventricular noncompaction 5 mondo_mondo_0800351_medgen_c3150690 MONDO:MONDO:0800351,MedGen:C3150690 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH2 MYH2-related disorder myh2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYCN Megalencephaly-polydactyly syndrome mondo_mondo_0958279_medgen_c5935591_omim_620748 MONDO:MONDO:0958279,MedGen:C5935591,OMIM:620748 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC1 Arthrogryposis, distal, type 1B mondo_mondo_0013698_medgen_c3280526_omim_614335_orphanet_1146 MONDO:MONDO:0013698,MedGen:C3280526,OMIM:614335,Orphanet:1146 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Progeroid mandibuloacral dysplasia progeroid_mandibuloacral_dysplasia . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR MTR-related disorder mtr_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 MTM1-related disorder mtm1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX2 Craniosynostosis 2 mondo_mondo_0011481_medgen_c1858160_omim_604757_orphanet_1541 MONDO:MONDO:0011481,MedGen:C1858160,OMIM:604757,Orphanet:1541 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSR1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSN Combined immunodeficiency due to moesin deficiency mondo_mondo_0010514_medgen_c5568123_omim_300988_orphanet_504530 MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988,Orphanet:504530 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH4 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL49 Perrault syndrome 1 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRAS RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZL2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Charcot-Marie-Tooth disease type 4E mondo_mondo_0011527_medgen_c4721436_omim_605253_orphanet_99951 MONDO:MONDO:0011527,MedGen:C4721436,OMIM:605253,Orphanet:99951 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOGS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS2 Combined molybdoflavoprotein enzyme deficiency human_phenotype_ontology_hp_0003570_mondo_mondo_0020480_medgen_c0268119_omim_ps252150_orphanet_833_orphanet_99732 Human_Phenotype_Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150,Orphanet:833,Orphanet:99732 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS1 MOCS1-related disorder mocs1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP13 Metaphyseal chondrodysplasia, Spahr type mondo_mondo_0009597_medgen_c0432225_omim_250400_orphanet_2501 MONDO:MONDO:0009597,MedGen:C0432225,OMIM:250400,Orphanet:2501 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP13 Metaphyseal anadysplasia 1, autosomal dominant medgen_c4016643 MedGen:C4016643 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC medgen_c4693974 MedGen:C4693974 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAA MMAA-related disorder mmaa_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLIP condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH3 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKRN3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Monogenic hearing loss monogenic_hearing_loss . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITD1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MID2 Intellectual disability, X-linked 101 mondo_mondo_0010489_medgen_c3890168_omim_300928_orphanet_777 MONDO:MONDO:0010489,MedGen:C3890168,OMIM:300928,Orphanet:777 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MID1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGP Keutel syndrome mondo_mondo_0009495_medgen_c1855607_omim_245150_orphanet_85202 MONDO:MONDO:0009495,MedGen:C1855607,OMIM:245150,Orphanet:85202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGME1 Mitochondrial DNA depletion syndrome 11 mondo_mondo_0014039_medgen_c3554462_omim_615084_orphanet_352447 MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MESD condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIOB Premature ovarian failure 23 mondo_mondo_0958035_medgen_c5882747_omim_620686 MONDO:MONDO:0958035,MedGen:C5882747,OMIM:620686 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 X-linked MECP2-related disorders x_linked_mecp2_related_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Rett syndrome, zappella variant medgen_c2677682 MedGen:C2677682 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDFIC Lymphatic malformation 12 mondo_mondo_0031043_medgen_c5774203_omim_620014 MONDO:MONDO:0031043,MedGen:C5774203,OMIM:620014 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 MCOLN1-related disorder mcoln1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Meier-Gorlin syndrome mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM3AP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM10 Immunodeficiency 80 with or without congenital cardiomyopathy mondo_mondo_0030266_medgen_c5543344_omim_619313 MONDO:MONDO:0030266,MedGen:C5543344,OMIM:619313 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAX Pheochromocytoma, susceptibility to medgen_c3149711 MedGen:C3149711 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Parkinson disease, late-onset mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK8IP3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MANBA MANBA-related disorder manba_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAMLD1 Hypospadias 2, X-linked mondo_mondo_0010423_medgen_c2677879_omim_300758_orphanet_440 MONDO:MONDO:0010423,MedGen:C2677879,OMIM:300758,Orphanet:440 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGT1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Prader-Willi syndrome mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 MAGEL2-related disorder magel2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB Duane retraction syndrome 3 with or without deafness mondo_mondo_0014880_medgen_c4310752_omim_617041_orphanet_233 MONDO:MONDO:0014880,MedGen:C4310752,OMIM:617041,Orphanet:233 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF Developmental and epileptic encephalopathy, 28 mondo_mondo_0014533_medgen_c4015519_omim_616211_orphanet_442835 MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF Autosomal recessive spinocerebellar ataxia 12 mondo_mondo_0013687_medgen_c3280452_omim_614322_orphanet_284282 MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322,Orphanet:284282 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MACF1 lissencephaly with brainstem hypoplasia lissencephaly_with_brainstem_hypoplasia . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MACF1 Lissencephaly with decussation defect lissencephaly_with_decussation_defect . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST LYST-related disorder lyst_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYN Autoinflammatory disease, systemic, with vasculitis mondo_mondo_0957271_medgen_c5830525_omim_620376 MONDO:MONDO:0957271,MedGen:C5830525,OMIM:620376 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP3 LTBP3-related disorder ltbp3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Nevus sebaceous human_phenotype_ontology_hp_0010815_medgen_c3854181 Human_Phenotype_Ontology:HP:0010815,MedGen:C3854181 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Myopathy, congenital, with excess of muscle spindles mondo_mondo_0800299_medgen_c1968782 MONDO:MONDO:0800299,MedGen:C1968782 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Progressive myoclonic epilepsy type 6 mondo_mondo_0013526_medgen_c5190805_omim_614018_orphanet_280620 MONDO:MONDO:0013526,MedGen:C5190805,OMIM:614018,Orphanet:280620 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRPAP1 Myopia 23, autosomal recessive mondo_mondo_0014183_medgen_c3809482_omim_615431 MONDO:MONDO:0014183,MedGen:C3809482,OMIM:615431 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Exudative vitreoretinopathy 4, autosomal recessive medgen_c4016839 MedGen:C4016839 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP4 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP4 LRP4-related disorder lrp4_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP1 Developmental dysplasia of the hip 3 mondo_mondo_0958037_medgen_c5882750_omim_620690 MONDO:MONDO:0958037,MedGen:C5882750,OMIM:620690 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRIG2 Urofacial syndrome 2 mondo_mondo_0014049_medgen_c3554520_omim_615112_orphanet_2704 MONDO:MONDO:0014049,MedGen:C3554520,OMIM:615112,Orphanet:2704 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPL LPL-related disorder lpl_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXL3 3-methylglutaconic aciduria type 8 mondo_mondo_0044723_medgen_c4310650_omim_617248_orphanet_505208 MONDO:MONDO:0044723,MedGen:C4310650,OMIM:617248,Orphanet:505208 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Congenital aneurysm of ascending aorta mondo_mondo_0024559_medgen_c0345050_omim_607086_orphanet_229 MONDO:MONDO:0024559,MedGen:C0345050,OMIM:607086,Orphanet:229 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Acute aortic dissection medgen_c0241868 MedGen:C0241868 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 Tibia, hypoplasia or aplasia of, with polydactyly mondo_mondo_0008572_medgen_c1861098_omim_188740_orphanet_3332_orphanet_988 MONDO:MONDO:0008572,MedGen:C1861098,OMIM:188740,Orphanet:3332,Orphanet:988 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPT1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPA LIPA-related disorder lipa_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG4 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Luteinizing hormone resistance, female medgen_c3668935 MedGen:C3668935 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR LHCGR-related disorder lhcgr_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCAT Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAS1L Wilson-Turner syndrome mondo_mondo_0010665_medgen_c1839736_omim_309585_orphanet_3459 MONDO:MONDO:0010665,MedGen:C1839736,OMIM:309585,Orphanet:3459 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB2 LAMB2-related disorder lamb2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Congenital Muscular Dystrophy, LAMA2-related congenital_muscular_dystrophy_lama2_related . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KYNU KYNU-related disorder kynu_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT9 Palmoplantar keratoderma, epidermolytic human_phenotype_ontology_hp_0007559_mondo_mondo_0968949_medgen_c1721006_omim_ps144200 Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT6B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT6B Pachyonychia congenita 4 mondo_mondo_0014325_medgen_c3714949_omim_615728_orphanet_2309 MONDO:MONDO:0014325,MedGen:C3714949,OMIM:615728,Orphanet:2309 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex 1C, localized mondo_mondo_0007551_medgen_c0080333_omim_131800_orphanet_79400 MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Naegeli-Franceschetti-Jadassohn syndrome mondo_mondo_0008059_medgen_c0343111_omim_161000_orphanet_69087 MONDO:MONDO:0008059,MedGen:C0343111,OMIM:161000,Orphanet:69087 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Epidermolytic hyperkeratosis 2B, autosomal recessive mondo_mondo_0700245_medgen_c5882753_omim_620707 MONDO:MONDO:0700245,MedGen:C5882753,OMIM:620707 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Annular epidermolytic ichthyosis mondo_mondo_0011870_medgen_c1843463_omim_ps607602_orphanet_281139 MONDO:MONDO:0011870,MedGen:C1843463,OMIM:PS607602,Orphanet:281139 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Juvenile myelomonocytic leukemia human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B KMT2B-related disorder kmt2b_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLLN PTEN hamartoma tumor syndrome mondo_mondo_0017623_mesh_d006223_medgen_c1959582_orphanet_306498 MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLKB1 Prekallikrein deficiency mondo_mondo_0044744_medgen_c0272339 MONDO:MONDO:0044744,MedGen:C0272339 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 KLHL7-related disorder klhl7_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL40 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL24 Epidermolysis bullosa simplex, Koebner type mondo_mondo_0007554_medgen_c5561924_omim_131900_orphanet_79399 MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIFBP condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5C condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Amyotrophic lateral sclerosis, susceptibility to, 25 mondo_mondo_0060670_medgen_c4693609_omim_617921 MONDO:MONDO:0060670,MedGen:C4693609,OMIM:617921 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Spastic paraplegia 30B, autosomal recessive mondo_mondo_0971149_medgen_c5935571_omim_620607 MONDO:MONDO:0971149,MedGen:C5935571,OMIM:620607 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A KIF1A related neurological disorder mondo_mondo_0700055_medgen_cn312623 MONDO:MONDO:0700055,MedGen:CN312623 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIDINS220 Ventriculomegaly and arthrogryposis mondo_mondo_0859184_medgen_c5561973_omim_619501 MONDO:MONDO:0859184,MedGen:C5561973,OMIM:619501 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KHDC3L Hydatidiform mole, recurrent, 2 mondo_mondo_0013671_medgen_c3280352_omim_614293_orphanet_254688_orphanet_99927 MONDO:MONDO:0013671,MedGen:C3280352,OMIM:614293,Orphanet:254688,Orphanet:99927 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6B KDM6B-related disorder kdm6b_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A Kabuki syndrome 1 mondo_mondo_0007843_medgen_cn030661_omim_147920_orphanet_2322 MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A KDM6A-related disorder kdm6a_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5A condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM4B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM2B KDM2B-related disorder kdm2b_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM1A ACTH-independent macronodular adrenal hyperplasia 3 mondo_mondo_0700299_medgen_c5975485_omim_620990 MONDO:MONDO:0700299,MedGen:C5975485,OMIM:620990 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDELR2 Osteogenesis imperfecta, type 21 mondo_mondo_0030861_medgen_c5436875_omim_619131 MONDO:MONDO:0030861,MedGen:C5436875,OMIM:619131 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 KCNV2-related disorder kcnv2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 KCNT1-related disorder kcnt1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN3 Zimmermann-Laband syndrome 3 mondo_mondo_0032854_medgen_c5231447_omim_618658 MONDO:MONDO:0032854,MedGen:C5231447,OMIM:618658 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 KCNMA1-related disorder kcnma1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ13 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 Autosomal recessive nonsyndromic hearing loss 4 mondo_mondo_0010933_medgen_c3538946_omim_600791_orphanet_90636 MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT5 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities mondo_mondo_0030852_medgen_c5436821_omim_619103 MONDO:MONDO:0030852,MedGen:C5436821,OMIM:619103 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 KARS1-related disorder kars1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH2 Hypertrophic cardiomyopathy 17 mondo_mondo_0013474_medgen_c3151264_omim_613873 MONDO:MONDO:0013474,MedGen:C3151264,OMIM:613873 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH1 Congenital myopathy 25 mondo_mondo_0975808_medgen_c5975432_omim_620964 MONDO:MONDO:0975808,MedGen:C5975432,OMIM:620964 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH1 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JMJD1C condition not provided condition_not_provided MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Atypical coarctation of aorta mondo_mondo_0015446_medgen_c3496579_orphanet_1456 MONDO:MONDO:0015446,MedGen:C3496579,Orphanet:1456 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IVD IVD-related disorder ivd_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGAV Immune dysregulation, neurodevelopmental defects, and colitis mondo_mondo_0980702_medgen_cn380017_omim_621375 MONDO:MONDO:0980702,MedGen:CN380017,OMIM:621375 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGAV ITGAV deficiency itgav_deficiency . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA3 ITGA3-related disorder itga3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISG15 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency mondo_mondo_0014502_medgen_c4015293_omim_616126_orphanet_319563 MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126,Orphanet:319563 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRX5 Craniofacial dysplasia - osteopenia syndrome mondo_mondo_0012634_medgen_c1970027_omim_611174_orphanet_314555 MONDO:MONDO:0012634,MedGen:C1970027,OMIM:611174,Orphanet:314555 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK1BP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 IQCB1-related disorder iqcb1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTU Short-rib thoracic dysplasia 20 with polydactyly mondo_mondo_0044328_medgen_c4693616_omim_617925 MONDO:MONDO:0044328,MedGen:C4693616,OMIM:617925 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTU Orofaciodigital syndrome 17 mondo_mondo_0033375_medgen_c4693640_omim_617926 MONDO:MONDO:0033375,MedGen:C4693640,OMIM:617926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPDH1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6ST Stuve-Wiedemann syndrome 2 mondo_mondo_0030756_medgen_c5676919_omim_619751 MONDO:MONDO:0030756,MedGen:C5676919,OMIM:619751 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RN condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED ectodermal_dysplasia_and_immunodeficiency_1_male_restricted . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT56 Biliary, renal, neurologic, and skeletal syndrome mondo_mondo_0859191_medgen_c5561990_omim_619534 MONDO:MONDO:0859191,MedGen:C5561990,OMIM:619534 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Polycystic kidney disease 9, susceptibility to mondo_mondo_0976267_medgen_c6012712_omim_621164 MONDO:MONDO:0976267,MedGen:C6012712,OMIM:621164 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Joubert syndrome with Jeune asphyxiating thoracic dystrophy mondo_mondo_0018342_medgen_c4518774_orphanet_397715 MONDO:MONDO:0018342,MedGen:C4518774,Orphanet:397715 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Cystic renal disease cystic_renal_disease . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency mondo_mondo_0014429_medgen_c4014863_omim_615978_orphanet_319581 MONDO:MONDO:0014429,MedGen:C4014863,OMIM:615978,Orphanet:319581 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNAR2 Immunodeficiency 45 mondo_mondo_0014727_medgen_c4225252_omim_616669 MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNAR1 Immunodeficiency 106, susceptibility to viral infections mondo_mondo_0030970_medgen_c5677009_omim_619935 MONDO:MONDO:0030970,MedGen:C5677009,OMIM:619935 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTT Huntington disease mondo_mondo_0007739_medgen_c0020179_omim_143100_orphanet_248111_orphanet_399 MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100,Orphanet:248111,Orphanet:399 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 Neuronopathy, distal hereditary motor, type 2A mondo_mondo_0008025_medgen_c1834692_omim_158590_orphanet_139525 MONDO:MONDO:0008025,MedGen:C1834692,OMIM:158590,Orphanet:139525 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B3 Differences in sex development differences_in_sex_development . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HS2ST1 Neurofacioskeletal syndrome with or without renal agenesis mondo_mondo_0030966_medgen_c5543070_omim_619194 MONDO:MONDO:0030966,MedGen:C5543070,OMIM:619194 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRURF condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Nevus sebaceous human_phenotype_ontology_hp_0010815_medgen_c3854181 Human_Phenotype_Ontology:HP:0010815,MedGen:C3854181 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Myopathy, congenital, with excess of muscle spindles mondo_mondo_0800299_medgen_c1968782 MONDO:MONDO:0800299,MedGen:C1968782 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS6 HPS6-related disorder hps6_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS3 HPS3-related disorder hps3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT1-related disorder hprt1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 Syndactyly type 5 mondo_mondo_0008516_medgen_c1861348_omim_186300_orphanet_93406 MONDO:MONDO:0008516,MedGen:C1861348,OMIM:186300,Orphanet:93406 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 HOXD13-related disorder hoxd13_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOGA1 HOGA1-related disorder hoga1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPR Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities mondo_mondo_0859297_medgen_c5774231_omim_620073_orphanet_662189 MONDO:MONDO:0859297,MedGen:C5774231,OMIM:620073,Orphanet:662189 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCR condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Porphyria, acute intermittent, nonerythroid variant mondo_mondo_0700384_medgen_c1867969 MONDO:MONDO:0700384,MedGen:C1867969 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS HMBS-related disorder hmbs_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HHAT condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXB Sandhoff disease, infantile form mondo_mondo_0017721_medgen_c0751490_orphanet_309155 MONDO:MONDO:0017721,MedGen:C0751490,Orphanet:309155 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Tay-Sachs disease, B1 variant mondo_mondo_0017728_medgen_c1848916 MONDO:MONDO:0017728,MedGen:C1848916 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN4 Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCFC1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBG2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C3 Tessadori-van Haaften neurodevelopmental syndrome 1 mondo_mondo_0030729_medgen_c5676922_omim_619758 MONDO:MONDO:0030729,MedGen:C5676922,OMIM:619758 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B Brain imaging abnormality human_phenotype_ontology_hp_0410263_medgen_c2711610 Human_Phenotype_Ontology:HP:0410263,MedGen:C2711610 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A Brain imaging abnormality human_phenotype_ontology_hp_0410263_medgen_c2711610 Human_Phenotype_Ontology:HP:0410263,MedGen:C2711610 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUSB GUSB-related disorder gusb_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUK1 Mitochondrial dna depletion syndrome 21 mondo_mondo_0976132_medgen_c5975599_omim_621071 MONDO:MONDO:0976132,MedGen:C5975599,OMIM:621071 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D GUCY2D-related disorder gucy2d_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2C condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2C Meconium ileus human_phenotype_ontology_hp_0002610_human_phenotype_ontology_hp_0004401_human_phenotype_ontology_hp_0004402_mondo_mondo_0054868_medgen_c2939175_orphanet_314376 Human_Phenotype_Ontology:HP:0002610,Human_Phenotype_Ontology:HP:0004401,Human_Phenotype_Ontology:HP:0004402,MONDO:MONDO:0054868,MedGen:C2939175,Orphanet:314376 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSTZ1 Maleylacetoacetate isomerase deficiency mondo_mondo_0060527_medgen_c1291607_omim_617596 MONDO:MONDO:0060527,MedGen:C1291607,OMIM:617596 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR2 Autosomal recessive nonsyndromic hearing loss 101 mondo_mondo_0014363_medgen_c3892049_omim_615837_orphanet_90636 MONDO:MONDO:0014363,MedGen:C3892049,OMIM:615837,Orphanet:90636 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM6 Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive mondo_mondo_0060629_medgen_c4693325_omim_617820 MONDO:MONDO:0060629,MedGen:C4693325,OMIM:617820 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 GRIN1-related disorder grin1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL2 GRHL2-related disorder grhl2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPSM2 GPSM2-related disorder gpsm2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR68 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 GPR143-related foveal hypoplasia mondo_mondo_0700230_medgen_cn375905 MONDO:MONDO:0700230,MedGen:CN375905 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN RDH12-related disorder rdh12_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPATCH11 Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia early_onset_and_severe_retinal_dystrophy_with_neurological_impairment_and_facial_dysmorphia . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOT2 Developmental and epileptic encephalopathy, 82 mondo_mondo_0032880_medgen_c5231473_omim_618721 MONDO:MONDO:0032880,MedGen:C5231473,OMIM:618721 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOT2 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOSR2 Progressive myoclonic epilepsy type 6 mondo_mondo_0013526_medgen_c5190805_omim_614018_orphanet_280620 MONDO:MONDO:0013526,MedGen:C5190805,OMIM:614018,Orphanet:280620 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOSR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Multifocal epileptiform discharges human_phenotype_ontology_hp_0010841_medgen_c4021219 Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Limb hypertonia human_phenotype_ontology_hp_0002509_medgen_c1838391 Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Growth delay human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT1 Congenital stationary night blindness 1G mondo_mondo_0014614_medgen_c4225345_omim_616389_orphanet_215 MONDO:MONDO:0014614,MedGen:C4225345,OMIM:616389,Orphanet:215 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis albright_hereditary_osteodystrophy_pseudohypoparathyroidism_pseudopseudohypoparathyroidism_acrodysostosis_and_osteoma_cutis . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ Sturge-Weber syndrome mondo_mondo_0008501_medgen_c0038505_omim_185300_orphanet_3205 MONDO:MONDO:0008501,MedGen:C0038505,OMIM:185300,Orphanet:3205 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ Familial multiple nevi flammei mondo_mondo_0008094_medgen_c2931029_omim_163000_orphanet_624 MONDO:MONDO:0008094,MedGen:C2931029,OMIM:163000,Orphanet:624 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI3 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUL Glutamine synthetase stabilization disorder glutamine_synthetase_stabilization_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUL Developmental and epileptic encephalopathy, 16 mondo_mondo_0014133_medgen_c3809173_omim_615338_orphanet_293181_orphanet_352596 MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338,Orphanet:293181,Orphanet:352596 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLS Global developmental delay, progressive ataxia, and elevated glutamine mondo_mondo_0032733_medgen_c5193080_omim_618412 MONDO:MONDO:0032733,MedGen:C5193080,OMIM:618412 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRX5 Spasticity-ataxia-gait anomalies syndrome mondo_mondo_0014803_medgen_c4225178_omim_616859_orphanet_401866 MONDO:MONDO:0014803,MedGen:C4225178,OMIM:616859,Orphanet:401866 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLIS3 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 Autosomal dominant nonsyndromic hearing loss 3B mondo_mondo_0012975_medgen_c2675237_omim_612643_orphanet_90635 MONDO:MONDO:0012975,MedGen:C2675237,OMIM:612643,Orphanet:90635 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF1 GIGYF1-related disorder gigyf1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GH1 Short stature due to growth hormone qualitative anomaly mondo_mondo_0009879_medgen_c1849779_omim_262650_orphanet_629 MONDO:MONDO:0009879,MedGen:C1849779,OMIM:262650,Orphanet:629 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM1 GFM1-related disorder gfm1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFER condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Brachydactyly type A1C mondo_mondo_0014032_medgen_c3554446_omim_615072_orphanet_93388 MONDO:MONDO:0014032,MedGen:C3554446,OMIM:615072,Orphanet:93388 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 GDAP1-related disorder gdap1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCSH Glycine encephalopathy human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCNA Spermatogenic failure, X-linked, 4 mondo_mondo_0024773_medgen_c5676882_omim_301077 MONDO:MONDO:0024773,MedGen:C5676882,OMIM:301077 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 Motor axonal neuropathy human_phenotype_ontology_hp_0007002_human_phenotype_ontology_hp_0007349_medgen_c2749625 Human_Phenotype_Ontology:HP:0007002,Human_Phenotype_Ontology:HP:0007349,MedGen:C2749625 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 Charcot-Marie-Tooth Disease, axonal, type 2GG mondo_mondo_0011675_medgen_c5561933_omim_606483_orphanet_100043 MONDO:MONDO:0011675,MedGen:C5561933,OMIM:606483,Orphanet:100043 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 Cataract 11 multiple types mondo_mondo_0012527_medgen_c1864567_omim_610623_orphanet_91492 MONDO:MONDO:0012527,MedGen:C1864567,OMIM:610623,Orphanet:91492 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATM condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATB Combined oxidative phosphorylation deficiency 41 mondo_mondo_0030007_medgen_c5394236_omim_618838 MONDO:MONDO:0030007,MedGen:C5394236,OMIM:618838 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD2B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Transient myeloproliferative syndrome human_phenotype_ontology_hp_0005534_mondo_mondo_0008040_medgen_c1834582_omim_159595_orphanet_420611 Human_Phenotype_Ontology:HP:0005534,MONDO:MONDO:0008040,MedGen:C1834582,OMIM:159595,Orphanet:420611 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GANAB POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE polycystic_kidney_disease_3_with_polycystic_liver_disease . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAMT GAMT-related disorder gamt_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC GALC-related disorder galc_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAD1 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities mondo_mondo_0033613_medgen_c5436628_omim_619026_orphanet_210141_orphanet_641353 MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA3 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features mondo_mondo_0859564_medgen_c5774178_omim_301091 MONDO:MONDO:0859564,MedGen:C5774178,OMIM:301091 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR2 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 Glycogen storage disease, type I mondo_mondo_0002413_medgen_c0017920_orphanet_364 MONDO:MONDO:0002413,MedGen:C0017920,Orphanet:364 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 G6PC1-related disorder g6pc1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZR1 Developmental and epileptic encephalopathy 109 mondo_mondo_0859325_medgen_c5774263_omim_620145 MONDO:MONDO:0859325,MedGen:C5774263,OMIM:620145 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 Familial exudative vitreoretinopathy mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTSJ1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 Vitelliform macular dystrophy 2 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTCD condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRRS1L Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRRS1L Progressive encephalopathy human_phenotype_ontology_hp_0002448_medgen_c1838578 Human_Phenotype_Ontology:HP:0002448,MedGen:C1838578 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRRS1L Chorea human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMD5 Neurodevelopmental disorder with eye movement abnormalities and ataxia mondo_mondo_0859305_medgen_c5774241_omim_620094 MONDO:MONDO:0859305,MedGen:C5774241,OMIM:620094 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM1 FREM1-related disorder frem1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP2 FOXP2-related disorder foxp2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES intellectual_developmental_disorder_with_language_impairment_and_autistic_features . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXN1 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXI3 Craniofacial microsomia 2 mondo_mondo_0958194_medgen_c5781610_omim_620444 MONDO:MONDO:0958194,MedGen:C5781610,OMIM:620444 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXI3 Craniofacial microsomia mondo_mondo_0015397_medgen_c0265240_omim_ps164210_orphanet_141132 MONDO:MONDO:0015397,MedGen:C0265240,OMIM:PS164210,Orphanet:141132 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE1 Bamforth-Lazarus syndrome mondo_mondo_0009437_medgen_c1855794_omim_241850_orphanet_1226 MONDO:MONDO:0009437,MedGen:C1855794,OMIM:241850,Orphanet:1226 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia mondo_mondo_0976126_medgen_c5975578_omim_621060 MONDO:MONDO:0976126,MedGen:C5975578,OMIM:621060 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Restrictive cardiomyopathy human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Boomerang dysplasia mondo_mondo_0007208_medgen_c0432201_omim_112310_orphanet_1263 MONDO:MONDO:0007208,MedGen:C0432201,OMIM:112310,Orphanet:1263 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Autosomal dominant and autosomal recessive FLG-related disorders autosomal_dominant_and_autosomal_recessive_flg_related_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Myopathy caused by variation in FKRP mondo_mondo_0700066_medgen_cn305637 MONDO:MONDO:0700066,MedGen:CN305637 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIBP Tall stature-intellectual disability-renal anomalies syndrome mondo_mondo_0014918_medgen_c4310715_omim_617107_orphanet_500095 MONDO:MONDO:0014918,MedGen:C4310715,OMIM:617107,Orphanet:500095 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FH FH-related disorder fh_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG Hypofibrinogenemia human_phenotype_ontology_hp_0011900_medgen_c0553681 Human_Phenotype_Ontology:HP:0011900,MedGen:C0553681 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Lacrimoauriculodentodigital syndrome 2 mondo_mondo_0859577_medgen_c5774286_omim_620192 MONDO:MONDO:0859577,MedGen:C5774286,OMIM:620192 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 FGFR3-related chondrodysplasia mondo_mondo_0019685_medgen_c5681604_orphanet_93420 MONDO:MONDO:0019685,MedGen:C5681604,Orphanet:93420 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 LADD syndrome 1 mondo_mondo_0100302_medgen_c5774323_omim_149730 MONDO:MONDO:0100302,MedGen:C5774323,OMIM:149730 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF9 Multiple synostoses syndrome 3 mondo_mondo_0013064_medgen_c2751826_omim_612961_orphanet_3237 MONDO:MONDO:0013064,MedGen:C2751826,OMIM:612961,Orphanet:3237 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF3 FGF3-related disorder fgf3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF12 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGB Familial dysfibrinogenemia mondo_mondo_0014452_medgen_c0272350_omim_616004_orphanet_335_orphanet_98881 MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 FBXW7-related disorder fbxw7_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO22 Tayoun-Maawali syndrome mondo_mondo_0976286_medgen_c6012717_omim_621184 MONDO:MONDO:0976286,MedGen:C6012717,OMIM:621184 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 FBXO11-related disorder fbxo11_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Encephalocele human_phenotype_ontology_hp_0002084_human_phenotype_ontology_hp_0002736_human_phenotype_ontology_hp_0100664_medgen_c4551722 Human_Phenotype_Ontology:HP:0002084,Human_Phenotype_Ontology:HP:0002736,Human_Phenotype_Ontology:HP:0100664,MedGen:C4551722 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 COACH syndrome 1 mondo_mondo_0800103_medgen_c5435651_omim_216360_orphanet_1454 MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL3 Intellectual disability, short stature, facial anomalies, and joint dislocations mondo_mondo_0011651_medgen_c1853507_omim_606220 MONDO:MONDO:0011651,MedGen:C1853507,OMIM:606220 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 Macular degeneration, early-onset mondo_mondo_0014501_medgen_c4015286_omim_616118 MONDO:MONDO:0014501,MedGen:C4015286,OMIM:616118 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Tall stature human_phenotype_ontology_hp_0000098_human_phenotype_ontology_hp_0001527_human_phenotype_ontology_hp_0003515_human_phenotype_ontology_hp_0003516_medgen_c0241240 Human_Phenotype_Ontology:HP:0000098,Human_Phenotype_Ontology:HP:0001527,Human_Phenotype_Ontology:HP:0003515,Human_Phenotype_Ontology:HP:0003516,MedGen:C0241240 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Familial ectopia lentis medgen_c2746069 MedGen:C2746069 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Ectopia lentis human_phenotype_ontology_hp_0000665_human_phenotype_ontology_hp_0001083_human_phenotype_ontology_hp_0007637_human_phenotype_ontology_hp_0007882_human_phenotype_ontology_hp_0008016_medgen_c0013581 Human_Phenotype_Ontology:HP:0000665,Human_Phenotype_Ontology:HP:0001083,Human_Phenotype_Ontology:HP:0007637,Human_Phenotype_Ontology:HP:0007882,Human_Phenotype_Ontology:HP:0008016,MedGen:C0013581 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSB Rajab interstitial lung disease with brain calcifications 1 mondo_mondo_0100215_medgen_c5436276_omim_613658_orphanet_178506 MONDO:MONDO:0100215,MedGen:C5436276,OMIM:613658,Orphanet:178506 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSA Rajab interstitial lung disease with brain calcifications 2 mondo_mondo_0100220_medgen_c5436603_omim_619013 MONDO:MONDO:0100220,MedGen:C5436603,OMIM:619013 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCI FANCI-related disorder fanci_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20C FAM20C-related disorder fam20c_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM111B Hereditary sclerosing poikiloderma with tendon and pulmonary involvement mondo_mondo_0014310_medgen_c3810325_omim_615704_orphanet_221043 MONDO:MONDO:0014310,MedGen:C3810325,OMIM:615704,Orphanet:221043 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM111A condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAH FAH-related disorder fah_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAAP100 Fanconi anemia, complementation group 10 mondo_mondo_0979241_medgen_c6012745_omim_621258 MONDO:MONDO:0979241,MedGen:C6012745,OMIM:621258 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F5 F5-related disorder f5_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH2 EZH2-related disorder ezh2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH1 EZH1-neurodevelopmental syndrome ezh1_neurodevelopmental_syndrome . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXPH5 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC7 Neurodevelopmental disorder with seizures and brain atrophy mondo_mondo_0033658_medgen_c5436732_omim_619072 MONDO:MONDO:0033658,MedGen:C5436732,OMIM:619072 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC2 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH Glutaric acidemia iic, late-onset medgen_c4016438 MedGen:C4016438 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESR1 Estrogen resistance syndrome mondo_mondo_0014148_medgen_c3809250_omim_615363_orphanet_785 MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESAM condition not provided condition_not_provided . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERMARD Periventricular nodular heterotopia 6 mondo_mondo_0014240_medgen_c3809872_omim_615544_orphanet_2149 MONDO:MONDO:0014240,MedGen:C3809872,OMIM:615544,Orphanet:2149 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLEC1 Mandibular prognathia human_phenotype_ontology_hp_0000251_human_phenotype_ontology_hp_0000279_human_phenotype_ontology_hp_0000303_human_phenotype_ontology_hp_0000328_human_phenotype_ontology_hp_0002051_human_phenotype_ontology_hp_0004648_human_phenotype_ontology_hp_0004656_human_phenotype_ontology_hp_0008514_mondo_mondo_0008312_mesh_d008313_medgen_c0399526_omim_176700_orphanet_2964 Human_Phenotype_Ontology:HP:0000251,Human_Phenotype_Ontology:HP:0000279,Human_Phenotype_Ontology:HP:0000303,Human_Phenotype_Ontology:HP:0000328,Human_Phenotype_Ontology:HP:0002051,Human_Phenotype_Ontology:HP:0004648,Human_Phenotype_Ontology:HP:0004656,Human_Phenotype_Ontology:HP:0008514,MONDO:MONDO:0008312,MeSH:D008313,MedGen:C0399526,OMIM:176700,Orphanet:2964 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERI1 Hoxha-Aliu syndrome mondo_mondo_0958005_medgen_c5882736_omim_620662 MONDO:MONDO:0958005,MedGen:C5882736,OMIM:620662 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Noonan-like syndrome medgen_c1834120 MedGen:C1834120 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Cockayne spectrum with or without cerebrooculofacioskeletal syndrome mondo_mondo_0100506_medgen_cn315928 MONDO:MONDO:0100506,MedGen:CN315928 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Xeroderma pigmentosum group G/Cockayne syndrome mondo_mondo_0800314_medgen_c1968561 MONDO:MONDO:0800314,MedGen:C1968561 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Trichothiodystrophy mondo_mondo_0018053_medgen_c1955934_omim_ps601675_orphanet_33364 MONDO:MONDO:0018053,MedGen:C1955934,OMIM:PS601675,Orphanet:33364 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB3 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPS8 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPM2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM EPCAM-related disorder epcam_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENOSF1 Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENAM Amelogenesis imperfecta type 1C mondo_mondo_0008770_medgen_c2673923_omim_204650_orphanet_88661 MONDO:MONDO:0008770,MedGen:C2673923,OMIM:204650,Orphanet:88661 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMX2 Schizencephaly human_phenotype_ontology_hp_0010636_mondo_mondo_0010011_medgen_c0266484_omim_269160_orphanet_799 Human_Phenotype_Ontology:HP:0010636,MONDO:MONDO:0010011,MedGen:C0266484,OMIM:269160,Orphanet:799 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EML1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMILIN1 Arterial tortuosity-bone fragility syndrome mondo_mondo_0971179_medgen_c5935641_omim_620908 MONDO:MONDO:0971179,MedGen:C5935641,OMIM:620908 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Emery-Dreifuss muscular dystrophy mondo_mondo_0016830_medgen_c0410189_omim_ps310300_orphanet_261 MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC10 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELAC2 Prostate cancer, hereditary, 2 mondo_mondo_0013872_medgen_c3539120_omim_614731_orphanet_1331 MONDO:MONDO:0013872,MedGen:C3539120,OMIM:614731,Orphanet:1331 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELAC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF4A2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF3F Intellectual developmental disorder, autosomal recessive 67 mondo_mondo_0032662_medgen_c4749019_omim_618295 MONDO:MONDO:0032662,MedGen:C4749019,OMIM:618295 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 Leukoencephalopathy with vanishing white matter 1 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 EIF2B5-related disorder eif2b5_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 EIF2B2-related disorder eif2b2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFCAB10 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF2KMT ALG1-congenital disorder of glycosylation mondo_mondo_0012052_medgen_c2931005_omim_608540_orphanet_79327 MONDO:MONDO:0012052,MedGen:C2931005,OMIM:608540,Orphanet:79327 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1D Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language mondo_mondo_0976263_medgen_c6012708_omim_621150 MONDO:MONDO:0976263,MedGen:C6012708,OMIM:621150 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1A2 EEF1A2-related disorder eef1a2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant medgen_c3551587 MedGen:C3551587 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECHS1 ECHS1-related disorder echs1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNLT2B Short-rib thoracic dysplasia 17 with or without polydactyly mondo_mondo_0054565_medgen_c4479416_omim_617405 MONDO:MONDO:0054565,MedGen:C4479416,OMIM:617405 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1I2 Neurodevelopmental disorder with microcephaly and structural brain anomalies mondo_mondo_0032779_medgen_c5193123_omim_618492_orphanet_699844 MONDO:MONDO:0032779,MedGen:C5193123,OMIM:618492,Orphanet:699844 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Neuronopathy, distal hereditary motor, autosomal dominant mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL2 Very long chain acyl-CoA dehydrogenase deficiency mondo_mondo_0008723_medgen_c3887523_omim_201475_orphanet_26793 MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Dentinogenesis imperfecta type 3 mondo_mondo_0007442_medgen_c0399378_omim_125500_orphanet_166265 MONDO:MONDO:0007442,MedGen:C0399378,OMIM:125500,Orphanet:166265 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRG1 Tan-Almurshedi syndrome mondo_mondo_0957990_medgen_c5882727_omim_620641 MONDO:MONDO:0957990,MedGen:C5882727,OMIM:620641 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPF2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON Meier-Gorlin syndrome mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOHH DOHH related neurodevelopmental disorder dohh_related_neurodevelopmental_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK3 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia mondo_mondo_0032661_medgen_c4749014_omim_618292 MONDO:MONDO:0032661,MedGen:C4749014,OMIM:618292 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK3 DOCK3-related disorder dock3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK11 Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia inborn_error_of_hematopoiesis_and_immunity_with_systemic_inflammation_and_normocytic_anemia . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMBP Cataract 48 mondo_mondo_0032735_medgen_c5193082_omim_618415 MONDO:MONDO:0032735,MedGen:C5193082,OMIM:618415 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC5 Ceroid lipofuscinosis, neuronal, 4 (Kufs type) mondo_mondo_0008083_medgen_c1834207_omim_162350_orphanet_228343_orphanet_79262 MONDO:MONDO:0008083,MedGen:C1834207,OMIM:162350,Orphanet:228343,Orphanet:79262 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC21 Inherited bone marrow failure syndrome medgen_c2986691 MedGen:C2986691 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB4 Congenital myopathy 21 with early respiratory failure mondo_mondo_0957224_medgen_c5830424_omim_620326 MONDO:MONDO:0957224,MedGen:C5830424,OMIM:620326 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB13 Primary ciliary dyskinesia 34 mondo_mondo_0014909_medgen_c4310722_omim_617091_orphanet_244 MONDO:MONDO:0014909,MedGen:C4310722,OMIM:617091,Orphanet:244 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH8 DNAH8-related disorder dnah8_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH3 Spermatogenic failure 18 mondo_mondo_0054615_medgen_c4539783_omim_617576 MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF3 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF2 DNAAF2-related disorder dnaaf2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF11 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF1 DNAAF1-related disorder dnaaf1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNA2 Mitochondrial DNA deletion syndrome with progressive myopathy mondo_mondo_0014062_medgen_c3554599_omim_615156_orphanet_352470 MONDO:MONDO:0014062,MedGen:C3554599,OMIM:615156,Orphanet:352470 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX5 Split hand-foot malformation 1 mondo_mondo_0008464_medgen_c2931019_omim_183600_orphanet_2440 MONDO:MONDO:0008464,MedGen:C2931019,OMIM:183600,Orphanet:2440 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DISP1 condition not provided condition_not_provided .|MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIS3L2 DIS3L2-related disorder dis3l2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 DICER1-related disorder dicer1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX9 Intellectual developmental disorder, autosomal dominant 75 mondo_mondo_0975838_medgen_c5975482_omim_620988 MONDO:MONDO:0975838,MedGen:C5975482,OMIM:620988 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Neurodevelopmental disorders neurodevelopmental_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies mondo_mondo_0032888_medgen_c5231481_omim_618731 MONDO:MONDO:0032888,MedGen:C5231481,OMIM:618731 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Neurodevelopmental disorders neurodevelopmental_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHTKD1 DHTKD1-related disorder dhtkd1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHFR Constitutional megaloblastic anemia with severe neurologic disease mondo_mondo_0013456_medgen_c3151205_omim_613839_orphanet_319651 MONDO:MONDO:0013456,MedGen:C3151205,OMIM:613839,Orphanet:319651 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE Hemolytic uremic syndrome, atypical, susceptibility to, 7 mondo_mondo_0100590_medgen_c3808620 MONDO:MONDO:0100590,MedGen:C3808620 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX59 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3Y Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDB1 White-Kernohan syndrome mondo_mondo_0859169_medgen_c5543635_omim_619426 MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAP3 condition not provided condition_not_provided .|MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP26B1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP24A1 CYP24A1-related disorder cyp24a1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B1 Differences in sex development differences_in_sex_development . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 mondo_mondo_0030872_medgen_c5436881_omim_619132 MONDO:MONDO:0030872,MedGen:C5436881,OMIM:619132 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD Familial multiple trichoepitheliomata mondo_mondo_0011114_medgen_c1275122_orphanet_79493_orphanet_867 MONDO:MONDO:0011114,MedGen:C1275122,Orphanet:79493,Orphanet:867 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBC1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CXCR2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTU2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTR9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNND1 CTNND1-related disorder ctnnd1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTH Cystathioninuria human_phenotype_ontology_hp_0003153_mondo_mondo_0009058_medgen_c0220993_omim_219500_orphanet_212 Human_Phenotype_Ontology:HP:0003153,MONDO:MONDO:0009058,MedGen:C0220993,OMIM:219500,Orphanet:212 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTCF CTCF-related disorder ctcf_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTC1 Coats plus syndrome mondo_mondo_0012815_medgen_c2677299_omim_ps612199_orphanet_313838 MONDO:MONDO:0012815,MedGen:C2677299,OMIM:PS612199,Orphanet:313838 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSRP3 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSRP3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSPP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B CSNK2B-related disorder csnk2b_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF1R CSF1R-related disorder mondo_mondo_0100632_medgen_cn379780 MONDO:MONDO:0100632,MedGen:CN379780 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGS Cataract 20 multiple types human_phenotype_ontology_hp_0010922_mondo_mondo_0007284_medgen_c0524524_omim_116100_orphanet_91492 Human_Phenotype_Ontology:HP:0010922,MONDO:MONDO:0007284,MedGen:C0524524,OMIM:116100,Orphanet:91492 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGD CRYGD-related disorder crygd_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGC Nuclear pulverulent cataract human_phenotype_ontology_hp_0010698_medgen_c1852438 Human_Phenotype_Ontology:HP:0010698,MedGen:C1852438 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB3 Cataract 22 multiple types mondo_mondo_0012336_medgen_c1857853_omim_609741_orphanet_91492 MONDO:MONDO:0012336,MedGen:C1857853,OMIM:609741,Orphanet:91492 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA4 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAB Myofibrillar myopathy 2 mondo_mondo_0012130_medgen_c1837317_orphanet_280553_orphanet_399058 MONDO:MONDO:0012130,MedGen:C1837317,Orphanet:280553,Orphanet:399058 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAA Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRTAP Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRLF1 Cold-induced sweating syndrome mondo_mondo_0015526_medgen_c1832409_omim_ps272430_orphanet_157820 MONDO:MONDO:0015526,MedGen:C1832409,OMIM:PS272430,Orphanet:157820 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRIPT condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRADD Intellectual disability, autosomal recessive 34 mondo_mondo_0013785_medgen_c3281044_omim_614499_orphanet_88616 MONDO:MONDO:0013785,MedGen:C3281044,OMIM:614499,Orphanet:88616 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX20 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX15 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX11 Mitochondrial complex IV deficiency, nuclear type 23 mondo_mondo_0859520_medgen_c5830322_omim_620275 MONDO:MONDO:0859520,MedGen:C5830322,OMIM:620275 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ7 Neuronopathy, distal hereditary motor, autosomal recessive 9 mondo_mondo_0957874_medgen_c5882672_omim_620402 MONDO:MONDO:0957874,MedGen:C5882672,OMIM:620402 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLEC11 3MC syndrome 2 mondo_mondo_0009927_medgen_c0796279_omim_265050_orphanet_293843 MONDO:MONDO:0009927,MedGen:C0796279,OMIM:265050,Orphanet:293843 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 COL9A2-related disorder col9a2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Nail dystrophy human_phenotype_ontology_hp_0008382_human_phenotype_ontology_hp_0008397_human_phenotype_ontology_hp_0008404_human_phenotype_ontology_hp_0008408_medgen_c0221260 Human_Phenotype_Ontology:HP:0008382,Human_Phenotype_Ontology:HP:0008397,Human_Phenotype_Ontology:HP:0008404,Human_Phenotype_Ontology:HP:0008408,MedGen:C0221260 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa pruriginosa, autosomal dominant medgen_c2675780 MedGen:C2675780 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant medgen_c2673611 MedGen:C2673611 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Collagen 6-related myopathy mondo_mondo_0100225_medgen_cn117976 MONDO:MONDO:0100225,MedGen:CN117976 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 COL6A2-related disorder col6a2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Collagen 6-related myopathy mondo_mondo_0100225_medgen_cn117976 MONDO:MONDO:0100225,MedGen:CN117976 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Spondylometaphyseal dysplasia - Sutcliffe type mondo_mondo_0008479_medgen_c0432221_omim_184255_orphanet_93315 MONDO:MONDO:0008479,MedGen:C0432221,OMIM:184255,Orphanet:93315 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Hypochondrogenesis mondo_mondo_0019669_medgen_c0542428_orphanet_93297 MONDO:MONDO:0019669,MedGen:C0542428,Orphanet:93297 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Postmenopausal osteoporosis mondo_mondo_0008159_medgen_c0029458 MONDO:MONDO:0008159,MedGen:C0029458 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 COL18A1-related disorder col18a1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG6 COG6-related disorder cog6_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COASY Neurodegeneration with brain iron accumulation mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTN2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT9 CNOT9-associated neurodevelopmental disorder cnot9_associated_neurodevelopmental_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 CNOT1-related disorder cnot1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLXN Ciliary dyskinesia, primary, 53 mondo_mondo_0957991_medgen_c5882728_omim_620642 MONDO:MONDO:0957991,MedGen:C5882728,OMIM:620642 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLP1 Pontocerebellar hypoplasia type 10 mondo_mondo_0014349_medgen_c5190575_omim_615803_orphanet_411493 MONDO:MONDO:0014349,MedGen:C5190575,OMIM:615803,Orphanet:411493 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED medgen_c4017059 MedGen:C4017059 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKA Bartter disease type 4B mondo_mondo_0000909_medgen_c4310805_omim_613090_orphanet_112 MONDO:MONDO:0000909,MedGen:C4310805,OMIM:613090,Orphanet:112 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN7 Hypopigmentation, organomegaly, and delayed myelination and development mondo_mondo_0032805_medgen_c5203300_omim_618541 MONDO:MONDO:0032805,MedGen:C5203300,OMIM:618541 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN7 CLCN7-related disorder clcn7_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCF1 Cold-induced sweating syndrome 2 mondo_mondo_0012467_medgen_c1853198_omim_610313_orphanet_157820 MONDO:MONDO:0012467,MedGen:C1853198,OMIM:610313,Orphanet:157820 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Developmental and epileptic encephalopathy, 31A mondo_mondo_0014598_medgen_c4225357_omim_616346_orphanet_2382 MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIT Autosomal recessive primary microcephaly mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB1 Epidermodysplasia verruciformis, susceptibility to, 3 mondo_mondo_0032644_medgen_c4748876_omim_618267 MONDO:MONDO:0032644,MedGen:C4748876,OMIM:618267 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHUK condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST6 condition not provided condition_not_provided .|MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Congenital myasthenic syndrome 3C mondo_mondo_0014585_medgen_c4225370_omim_616323_orphanet_590 MONDO:MONDO:0014585,MedGen:C4225370,OMIM:616323,Orphanet:590 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Congenital myasthenic syndrome 3A mondo_mondo_0014583_medgen_c4225372_omim_616321_orphanet_590 MONDO:MONDO:0014583,MedGen:C4225372,OMIM:616321,Orphanet:590 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB1 Congenital myasthenic syndrome 2C mondo_mondo_0014582_medgen_c4225373_omim_616314_orphanet_590 MONDO:MONDO:0014582,MedGen:C4225373,OMIM:616314,Orphanet:590 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA4 Autosomal dominant nocturnal frontal lobe epilepsy mondo_mondo_0020300_medgen_c3696898_orphanet_98784 MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA3 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRDL1 Isolated congenital megalocornea mondo_mondo_0010649_medgen_c4518341_omim_309300_orphanet_91489 MONDO:MONDO:0010649,MedGen:C4518341,OMIM:309300,Orphanet:91489 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHMP2B condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKA Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKA Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKA Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures mondo_mondo_0859282_medgen_c5774208_omim_620023 MONDO:MONDO:0859282,MedGen:C5774208,OMIM:620023 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKA Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK1 Oocyte/zygote/embryo maturation arrest 21 mondo_mondo_0957961_medgen_c5882722_omim_620610 MONDO:MONDO:0957961,MedGen:C5882722,OMIM:620610 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD4 Moyamoya angiopathy with developmental delay moyamoya_angiopathy_with_developmental_delay . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD4 CHD4-related disorder chd4_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAMP1 intellectual disability with severe speech impairment intellectual_disability_with_severe_speech_impairment MedGen:CN232368 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFP condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFP Properdin deficiency, X-linked mondo_mondo_0010713_medgen_c1839454_omim_312060_orphanet_2966 MONDO:MONDO:0010713,MedGen:C1839454,OMIM:312060,Orphanet:2966 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP69 Spermatogenic failure 24 mondo_mondo_0054728_medgen_c4693751_omim_617959 MONDO:MONDO:0054728,MedGen:C4693751,OMIM:617959 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP65 Spermatogenic failure 40 mondo_mondo_0032859_medgen_c5231451_omim_618664 MONDO:MONDO:0032859,MedGen:C5231451,OMIM:618664 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP45 Heterotaxy, visceral, 11, autosomal, with male infertility mondo_mondo_0030475_medgen_c5562019_omim_619608 MONDO:MONDO:0030475,MedGen:C5562019,OMIM:619608 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP418 Retinitis pigmentosa 64 mondo_mondo_0800359_medgen_c3281046 MONDO:MONDO:0800359,MedGen:C3281046 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP418 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP221 Young syndrome mondo_mondo_0010220_medgen_c0340037_omim_279000_orphanet_3471 MONDO:MONDO:0010220,MedGen:C0340037,OMIM:279000,Orphanet:3471 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP78 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Blindness human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP250 CEP250-related disorder cep250_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP164 CEP164-related disorder cep164_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPF CENPF-related disorder cenpf_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPE Microcephaly 13, primary, autosomal recessive mondo_mondo_0014473_medgen_c4015080_omim_616051_orphanet_808 MONDO:MONDO:0014473,MedGen:C4015080,OMIM:616051,Orphanet:808 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELA2A Hypertriglyceridemia human_phenotype_ontology_hp_0002155_human_phenotype_ontology_hp_0003082_human_phenotype_ontology_hp_0008174_human_phenotype_ontology_hp_0008332_mondo_mondo_0005347_medgen_c0813230 Human_Phenotype_Ontology:HP:0002155,Human_Phenotype_Ontology:HP:0003082,Human_Phenotype_Ontology:HP:0008174,Human_Phenotype_Ontology:HP:0008332,MONDO:MONDO:0005347,MedGen:C0813230 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELA2A Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELA2A Diabetes medgen_c1320657 MedGen:C1320657 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELA2A Coronary artery disorder mondo_mondo_0005010_mesh_d003324_medgen_c1956346 MONDO:MONDO:0005010,MeSH:D003324,MedGen:C1956346 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEACAM16 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK19 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 CDK13-related disorder cdk13_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Childhood onset hearing loss childhood_onset_hearing_loss . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH11 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDCA7L condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD63 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3G Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC88C CCDC88C-related disorder ccdc88c_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC47 Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair global_developmental_delay_with_dysmorphic_features_liver_dysfunction_pruritus_and_woolly_hair . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC39 CCDC39-related disorder ccdc39_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC30 Cardiomyopathy, dilated, 2c mondo_mondo_0032592_medgen_c4748647_omim_618189 MONDO:MONDO:0032592,MedGen:C4748647,OMIM:618189 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Encephalocele human_phenotype_ontology_hp_0002084_human_phenotype_ontology_hp_0002736_human_phenotype_ontology_hp_0100664_medgen_c4551722 Human_Phenotype_Ontology:HP:0002084,Human_Phenotype_Ontology:HP:0002736,Human_Phenotype_Ontology:HP:0100664,MedGen:C4551722 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Autosomal recessive CC2D2A-related disorders autosomal_recessive_cc2d2a_related_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Noonan syndrome-like disorder with juvenile myelomonocytic leukemia medgen_c4016301 MedGen:C4016301 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Distal myopathy, Tateyama type mondo_mondo_0013686_medgen_c3280443_omim_614321_orphanet_488650 MONDO:MONDO:0013686,MedGen:C3280443,OMIM:614321,Orphanet:488650 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV1 Congenital generalized lipodystrophy type 3 mondo_mondo_0012923_medgen_c2675861_omim_612526_orphanet_528_orphanet_696206 MONDO:MONDO:0012923,MedGen:C2675861,OMIM:612526,Orphanet:528,Orphanet:696206 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Bartter syndrome with hypocalcemia mondo_mondo_0016983_medgen_c4552089 MONDO:MONDO:0016983,MedGen:C4552089 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP2 Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly mondo_mondo_0957999_medgen_c5882733_omim_620653 MONDO:MONDO:0957999,MedGen:C5882733,OMIM:620653 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARS2 Combined oxidative phosphorylation defect type 27 mondo_mondo_0014728_medgen_c5567608_omim_616672_orphanet_477774 MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN5 Proliferative vitreoretinopathy mondo_mondo_0700115_medgen_c0242852_omim_193235_orphanet_329211 MONDO:MONDO:0700115,MedGen:C0242852,OMIM:193235,Orphanet:329211 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMTA1 CAMTA1-related disorder camta1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMSAP1 Cortical dysplasia, complex, with other brain malformations 12 mondo_mondo_0957217_medgen_c5830407_omim_620316 MONDO:MONDO:0957217,MedGen:C5830407,OMIM:620316 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D1 Developmental and epileptic encephalopathy 110 mondo_mondo_0859327_medgen_c5774265_omim_620149 MONDO:MONDO:0859327,MedGen:C5774265,OMIM:620149 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1H condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1D Sinoatrial node dysfunction and deafness mondo_mondo_0013960_medgen_c3554018_omim_614896_orphanet_324321 MONDO:MONDO:0013960,MedGen:C3554018,OMIM:614896,Orphanet:324321 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3ORF52 Hypotrichosis 15 mondo_mondo_0859341_medgen_c5774279_omim_620177 MONDO:MONDO:0859341,MedGen:C5774279,OMIM:620177 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QBP Combined oxidative phosphorylation deficiency 33 mondo_mondo_0054677_medgen_c4540209_omim_617713 MONDO:MONDO:0054677,MedGen:C4540209,OMIM:617713 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QB C1Q deficiency 2 mondo_mondo_0958187_medgen_c5830422_omim_620321 MONDO:MONDO:0958187,MedGen:C5830422,OMIM:620321 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome mondo_mondo_0008927_medgen_c4225424_omim_212550_orphanet_435930 MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550,Orphanet:435930 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTK Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRPF1 BRPF1-related disorder brpf1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRF1 condition not provided condition_not_provided .|MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRF1 Cerebellar-facial-dental syndrome mondo_mondo_0014529_medgen_c4015495_omim_616202_orphanet_444072 MONDO:MONDO:0014529,MedGen:C4015495,OMIM:616202,Orphanet:444072 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Inherited prostate cancer inherited_prostate_cancer . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Melanoma, cutaneous malignant, susceptibility to, 1 mondo_mondo_0007963_medgen_c1835047_omim_155600_orphanet_618 MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPGM Deficiency of bisphosphoglycerate mutase mondo_mondo_0009113_medgen_c1291620_omim_222800_orphanet_714 MONDO:MONDO:0009113,MedGen:C1291620,OMIM:222800,Orphanet:714 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLOC1S5 Hermansky-Pudlak syndrome 11 mondo_mondo_0030903_medgen_c5436936_omim_619172 MONDO:MONDO:0030903,MedGen:C5436936,OMIM:619172 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICC1 Renal dysplasia, cystic, susceptibility to mondo_mondo_0011037_medgen_c3275898_omim_601331 MONDO:MONDO:0011037,MedGen:C3275898,OMIM:601331 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BHLHA9 Mesoaxial synostotic syndactyly with phalangeal reduction mondo_mondo_0012271_medgen_c1836206_omim_609432_orphanet_157801 MONDO:MONDO:0012271,MedGen:C1836206,OMIM:609432,Orphanet:157801 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11B BCL11B-related disorder bcl11b_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDK condition not provided condition_not_provided .|MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHB BCKDHB-related disorder bckdhb_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCHE BCHE-related disorder bche_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAT2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG5 Cardiomyopathy, dilated, 2F mondo_mondo_0030680_medgen_c5676917_omim_619747 MONDO:MONDO:0030680,MedGen:C5676917,OMIM:619747 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D2 Meckel syndrome, type 10 mondo_mondo_0013609_medgen_c3280036_omim_614175_orphanet_564 MONDO:MONDO:0013609,MedGen:C3280036,OMIM:614175,Orphanet:564 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D2 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT7 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures medgen_c4017378 MedGen:C4017378 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B2M Hypoproteinemia, hypercatabolic mondo_mondo_0009434_medgen_c1855796_omim_241600 MONDO:MONDO:0009434,MedGen:C1855796,OMIM:241600 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 AXIN2-related disorder axin2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 NPHS2-related disorder nphs2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Idiopathic nephrotic syndrome mondo_mondo_0018170_medgen_c3496337_orphanet_357502 MONDO:MONDO:0018170,MedGen:C3496337,Orphanet:357502 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVIL Nephrotic syndrome, type 21 mondo_mondo_0032826_medgen_c5231498_omim_618594 MONDO:MONDO:0032826,MedGen:C5231498,OMIM:618594 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AURKC Infertility associated with multi-tailed spermatozoa and excessive DNA mondo_mondo_0009461_medgen_c0403812_omim_243060_orphanet_137893 MONDO:MONDO:0009461,MedGen:C0403812,OMIM:243060,Orphanet:137893 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATXN2 Spinocerebellar ataxia type 2 mondo_mondo_0008458_medgen_c0752121_omim_183090_orphanet_98756 MONDO:MONDO:0008458,MedGen:C0752121,OMIM:183090,Orphanet:98756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A1 Developmental and epileptic encephalopathy 104 mondo_mondo_0031021_medgen_c5774183_omim_619970 MONDO:MONDO:0031021,MedGen:C5774183,OMIM:619970 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6AP2 Syndromic X-linked intellectual disability Hedera type mondo_mondo_0010319_medgen_c1845543_omim_300423_orphanet_93952 MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423,Orphanet:93952 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6AP1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A2 ATP2A2-related disorder atp2a2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A1 ATP2A1-related disorder atp2a1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A1 Charcot-Marie-Tooth disease type 2A2 mondo_mondo_0012231_medgen_c4721887_omim_609260_orphanet_99947 MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A3 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A3 Pulmonary hypertension, primary, 5 mondo_mondo_0009935_medgen_c5676877_omim_265400_orphanet_422 MONDO:MONDO:0009935,MedGen:C5676877,OMIM:265400,Orphanet:422 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A3 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP11A Hearing loss, autosomal dominant 84 mondo_mondo_0030724_medgen_c5676952_omim_619810 MONDO:MONDO:0030724,MedGen:C5676952,OMIM:619810 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATOH7 Persistent hyperplastic primary vitreous, autosomal recessive mondo_mondo_0009097_medgen_c1969783_omim_221900_orphanet_91495 MONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900,Orphanet:91495 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATN1 Congenital ATN1 related disorder congenital_atn1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Neuropathy, hereditary sensory, type 1D mondo_mondo_0013381_medgen_c3150972_omim_613708_orphanet_36386 MONDO:MONDO:0013381,MedGen:C3150972,OMIM:613708,Orphanet:36386 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATIC AICA-ribosiduria mondo_mondo_0012099_medgen_c1837530_omim_608688_orphanet_250977 MONDO:MONDO:0012099,MedGen:C1837530,OMIM:608688,Orphanet:250977 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATG12 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 ASXL1-related disorder asxl1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH1L ASH1L-related disorder ash1l_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSB Mucopolysaccharidosis, type vi, severe medgen_c4017253 MedGen:C4017253 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSB ARSB-related disorder arsb_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC5 ARMC5-related disorder armc5_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Thin upper lip vermilion human_phenotype_ontology_hp_0000219_human_phenotype_ontology_hp_0200062_human_phenotype_ontology_hp_0200086_medgen_c1865017 Human_Phenotype_Ontology:HP:0000219,Human_Phenotype_Ontology:HP:0200062,Human_Phenotype_Ontology:HP:0200086,MedGen:C1865017 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Thick lower lip vermilion human_phenotype_ontology_hp_0000170_human_phenotype_ontology_hp_0000179_medgen_c1839739 Human_Phenotype_Ontology:HP:0000170,Human_Phenotype_Ontology:HP:0000179,MedGen:C1839739 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Long eyelashes human_phenotype_ontology_hp_0000500_human_phenotype_ontology_hp_0000527_medgen_c1853738 Human_Phenotype_Ontology:HP:0000500,Human_Phenotype_Ontology:HP:0000527,MedGen:C1853738 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Blepharophimosis human_phenotype_ontology_hp_0000507_human_phenotype_ontology_hp_0000513_human_phenotype_ontology_hp_0000581_mondo_mondo_0001008_medgen_c0005744 Human_Phenotype_Ontology:HP:0000507,Human_Phenotype_Ontology:HP:0000513,Human_Phenotype_Ontology:HP:0000581,MONDO:MONDO:0001008,MedGen:C0005744 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGDIA Nephrotic syndrome, type 8 mondo_mondo_0014099_medgen_c3808953_omim_615244_orphanet_656 MONDO:MONDO:0014099,MedGen:C3808953,OMIM:615244,Orphanet:656 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP29 Nonsyndromic cleft lip with or without cleft palate medgen_c1861538 MedGen:C1861538 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP19 Charcot-Marie-Tooth disease, axonal, type 2KK mondo_mondo_0980963_medgen_cn380845_omim_621466 MONDO:MONDO:0980963,MedGen:CN380845,OMIM:621466 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 ARF3-related disorder arf3_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA5 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA5 Hypertriglyceridemia 1 mondo_mondo_0007788_medgen_c5444012_omim_145750 MONDO:MONDO:0007788,MedGen:C5444012,OMIM:145750 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 Hypoalphalipoproteinemia, primary, 2, intermediate mondo_mondo_0859238_medgen_c5677030_omim_619836 MONDO:MONDO:0859238,MedGen:C5677030,OMIM:619836 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC APC-Associated Polyposis Disorders apc_associated_polyposis_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5Z1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1G1 Usmani-Riazuddin syndrome, autosomal recessive mondo_mondo_0859196_medgen_c5561994_omim_619548 MONDO:MONDO:0859196,MedGen:C5561994,OMIM:619548 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANXA11 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANXA11 Amyotrophic lateral sclerosis type 23 mondo_mondo_0027694_medgen_c4693381_omim_617839 MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANOS1 Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO6 ANO6-related disorder ano6_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 ANK2-related disorder ank2_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMOTL1 Craniofaciocardiohepatic syndrome mondo_mondo_0978295_medgen_c6012720_omim_621192 MONDO:MONDO:0978295,MedGen:C6012720,OMIM:621192 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMHR2 Persistent mullerian duct syndrome, type II medgen_c3897940 MedGen:C3897940 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMHR2 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMH Persistent mullerian duct syndrome, type I medgen_c3897939 MedGen:C3897939 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMD1 Developmental and epileptic encephalopathy, 87 mondo_mondo_0030059_medgen_c5394501_omim_618916 MONDO:MONDO:0030059,MedGen:C5394501,OMIM:618916 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMBN Amelogenesis imperfecta type 1F mondo_mondo_0014560_medgen_c4225394_omim_616270_orphanet_88661 MONDO:MONDO:0014560,MedGen:C4225394,OMIM:616270,Orphanet:88661 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALX4 Frontonasal dysplasia with alopecia and genital anomaly mondo_mondo_0013268_medgen_c3150703_omim_613451_orphanet_228390 MONDO:MONDO:0013268,MedGen:C3150703,OMIM:613451,Orphanet:228390 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Autosomal recessive ALPL-related disorders autosomal_recessive_alpl_related_disorders . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Retinal dystrophy, early-onset severe medgen_c1858080 MedGen:C1858080 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 ALG9-related disorder alg9_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 ALDH7A1-related disorder aldh7a1_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH1A3 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH1A2 Diaphragmatic hernia 4, with cardiovascular defects mondo_mondo_0859571_medgen_c5774210_omim_620025 MONDO:MONDO:0859571,MedGen:C5774210,OMIM:620025 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKR1C2 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency gene_6994_mondo_mondo_0013664_medgen_c1839840_omim_614279_orphanet_443087 Gene:6994,MONDO:MONDO:0013664,MedGen:C1839840,OMIM:614279,Orphanet:443087 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Charcot-Marie-Tooth disease X-linked recessive 4 mondo_mondo_0010689_medgen_c0795910_omim_310490_orphanet_101078 MONDO:MONDO:0010689,MedGen:C0795910,OMIM:310490,Orphanet:101078 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Nephrolithiasis human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Nephrocalcinosis human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTR1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGT Renal tubular dysgenesis human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGRN condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGMO condition not provided condition_not_provided .|MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF3 condition not provided condition_not_provided .|MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL ADSL-related disorder adsl_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADH5 AMED syndrome, digenic mondo_mondo_0030894_medgen_c5436906_omim_619151_orphanet_611216 MONDO:MONDO:0030894,MedGen:C5436906,OMIM:619151,Orphanet:611216 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Usher syndrome type 2A mondo_mondo_0010169_medgen_c1848634_omim_276901_orphanet_231178_orphanet_886 MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG2 Vas deferens, congenital bilateral aplasia of, X-linked mondo_mondo_0010511_medgen_c4310815_omim_300985 MONDO:MONDO:0010511,MedGen:C4310815,OMIM:300985 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY5 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia mondo_mondo_0859211_medgen_c5562038_omim_619651 MONDO:MONDO:0859211,MedGen:C5562038,OMIM:619651 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY3 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY10 Familial idiopathic hypercalciuria mondo_mondo_0007748_medgen_c0342639_omim_143870 MONDO:MONDO:0007748,MedGen:C0342639,OMIM:143870 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL4 Craniosynostosis with ectopia lentis mondo_mondo_0011347_medgen_c1863678_omim_603595 MONDO:MONDO:0011347,MedGen:C1863678,OMIM:603595 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL4 ADAMTSL4-related disorder adamtsl4_related_disorder . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS19 Cardiac valvular dysplasia 2 mondo_mondo_0859572_medgen_c5774226_omim_620067 MONDO:MONDO:0859572,MedGen:C5774226,OMIM:620067 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM10 Reticulate acropigmentation of Kitamura mondo_mondo_0014234_medgen_c0406811_omim_615537_orphanet_178307 MONDO:MONDO:0014234,MedGen:C0406811,OMIM:615537,Orphanet:178307 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACY1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVR1 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN4 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN1 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN1 Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 ACTA1-related myopathies acta1_related_myopathies . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACD Dyskeratosis congenita, autosomal dominant 6 mondo_mondo_0014690_medgen_c4225284_omim_616553_orphanet_3322 MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Short stature and advanced bone age, with early-onset osteoarthritis medgen_c4540542 MedGen:C4540542 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Short stature and advanced bone age medgen_c4540541 MedGen:C4540541 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADM MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up mcadd_medium_chain_acyl_coa_dehydrogenase_deficiency_full_acadm_sequencing_newborn_screening_follow_up . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Leukemia, Philadelphia chromosome-positive, resistant to imatinib medgen_c4016396 MedGen:C4016396 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 Short-rib thoracic dysplasia 15 with polydactyly mondo_mondo_0014907_medgen_c4310724_omim_617088 MONDO:MONDO:0014907,MedGen:C4310724,OMIM:617088 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD4 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB7 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA7 Alzheimer disease 9 mondo_mondo_0012153_medgen_c4282179_omim_608907 MONDO:MONDO:0012153,MedGen:C4282179,OMIM:608907 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 maculopathy maculopathy . 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies medgen_c5680383_orphanet_100049 MedGen:C5680383,Orphanet:100049 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA2 condition not provided condition_not_provided MedGen:C3661900 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 4 4 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZRSR2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP3 Oocyte maturation defect 3 mondo_mondo_0021574_medgen_c4540205_omim_617712 MONDO:MONDO:0021574,MedGen:C4540205,OMIM:617712 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF711 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF644 Myopia 21, autosomal dominant mondo_mondo_0013604_medgen_c3279997_omim_614167 MONDO:MONDO:0013604,MedGen:C3279997,OMIM:614167 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF462 Intellectual disability, autosomal dominant mondo_mondo_0100172_medgen_cn240835_omim_ps156200 MONDO:MONDO:0100172,MedGen:CN240835,OMIM:PS156200 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF462 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF408 Retinitis pigmentosa 72 mondo_mondo_0014653_medgen_c4225315_omim_616469_orphanet_791 MONDO:MONDO:0014653,MedGen:C4225315,OMIM:616469,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF408 Exudative vitreoretinopathy 6 mondo_mondo_0014652_medgen_c4225316_omim_616468_orphanet_891 MONDO:MONDO:0014652,MedGen:C4225316,OMIM:616468,Orphanet:891 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF335 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND10 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFX condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFTRAF1 Neurodevelopmental disorder with hypotonia and gross motor and speech delay mondo_mondo_0859207_medgen_c5562031_omim_619639 MONDO:MONDO:0859207,MedGen:C5562031,OMIM:619639 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFPM2 46,XY sex reversal 9 mondo_mondo_0014480_medgen_c4015129_omim_616067_orphanet_251510 MONDO:MONDO:0014480,MedGen:C4015129,OMIM:616067,Orphanet:251510 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX4 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 EPILEPSY, IDIOPATHIC GENERALIZED 20 epilepsy_idiopathic_generalized_20 MedGen:CN380873,OMIM:621500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 Corneal dystrophy human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB7A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZAP70 Autoimmune disease, multisystem, infantile-onset, 2 mondo_mondo_0014861_medgen_c4310768_omim_617006 MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YAP1 Uveal coloboma-cleft lip and palate-intellectual disability mondo_mondo_0007355_medgen_c3805432_omim_120433_orphanet_1473 MONDO:MONDO:0007355,MedGen:C3805432,OMIM:120433,Orphanet:1473 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC1 Spinocerebellar ataxia, autosomal recessive 26 mondo_mondo_0033116_medgen_c4539948_omim_617633 MONDO:MONDO:0033116,MedGen:C4539948,OMIM:617633 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Nephrotic range proteinuria human_phenotype_ontology_hp_0012593_medgen_c0445118 Human_Phenotype_Ontology:HP:0012593,MedGen:C0445118 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Leber congenital amaurosis 10 mondo_mondo_0012723_medgen_c1857821_omim_611755_orphanet_65 MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Familial idiopathic steroid-resistant nephrotic syndrome mondo_mondo_0019006_medgen_c4273714_orphanet_656 MONDO:MONDO:0019006,MedGen:C4273714,Orphanet:656 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Aniridia 1 mondo_mondo_0024507_medgen_c0344542_omim_106210_orphanet_250923 MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRAP53 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRAP53 Dyskeratosis congenita, autosomal recessive 3 mondo_mondo_0013520_medgen_c3151442_omim_613988_orphanet_1775 MONDO:MONDO:0013520,MedGen:C3151442,OMIM:613988,Orphanet:1775 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT4 Mullerian aplasia and hyperandrogenism mondo_mondo_0008019_medgen_c2675014_omim_158330_orphanet_247768 MONDO:MONDO:0008019,MedGen:C2675014,OMIM:158330,Orphanet:247768 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT1 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WLS WLS syndrome wls_syndrome . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR91 condition not provided condition_not_provided .|MedGen:C3661900|MedGen:CN169374 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR83OS Neurodevelopmental disorder with variable familial hypercholanemia mondo_mondo_0975877_medgen_c5975528_omim_621016 MONDO:MONDO:0975877,MedGen:C5975528,OMIM:621016 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR83 Neurodevelopmental disorder with variable familial hypercholanemia mondo_mondo_0975877_medgen_c5975528_omim_621016 MONDO:MONDO:0975877,MedGen:C5975528,OMIM:621016 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR74 Developmental and epileptic encephalopathy 119 mondo_mondo_1060177_medgen_cn379761_omim_621304 MONDO:MONDO:1060177,MedGen:CN379761,OMIM:621304 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR73 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 Distal renal tubular acidosis human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Autosomal recessive primary microcephaly mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45B Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures mondo_mondo_0060704_medgen_c4693816_omim_617977 MONDO:MONDO:0060704,MedGen:C4693816,OMIM:617977 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 Short rib-polydactyly syndrome mondo_mondo_0015461_medgen_c0036996_orphanet_1505 MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Cranioectodermal dysplasia mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR11 WDR11-related disorder wdr11_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDPCP condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WARS2 WARS2-related disorder wars2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Reduced quantity of Von Willebrand factor human_phenotype_ontology_hp_0012147_medgen_c4023022 Human_Phenotype_Ontology:HP:0012147,MedGen:C4023022 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWA8 Nonsyndromic cleft lip palate nonsyndromic_cleft_lip_palate . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWA1 VWA1-related disorder vwa1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS51 Pontocerebellar hypoplasia, type 13 mondo_mondo_0032831_medgen_c5231425_omim_618606_orphanet_613267 MONDO:MONDO:0032831,MedGen:C5231425,OMIM:618606,Orphanet:613267 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS50 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS4A Syndromic congenital hemolytic and dyserythropoietic anemia syndromic_congenital_hemolytic_and_dyserythropoietic_anemia . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13D VPS13D-related disorder vps13d_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13C VPS13C-related disorder vps13c_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13A VPS13A-related disorder vps13a_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA22 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA22 CCDC115-CDG mondo_mondo_0014789_medgen_c4225191_omim_616828_orphanet_468684 MONDO:MONDO:0014789,MedGen:C4225191,OMIM:616828,Orphanet:468684 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VKORC1 Warfarin response mondo_mondo_0007390_medgen_c0750384_omim_122700 MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UVSSA condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UTP14C condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP7 USP7-related disorder usp7_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP26 Spermatogenic failure, X-linked, 6 mondo_mondo_0859478_medgen_c5829562_omim_301101 MONDO:MONDO:0859478,MedGen:C5829562,OMIM:301101 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Autosomal dominant nonsyndromic hearing loss 36 mondo_mondo_0011708_medgen_c1847626_omim_606705_orphanet_90635 MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Usher syndrome type 2 mondo_mondo_0016484_medgen_c0339534_orphanet_231178 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROS UROS-related disorder uros_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROD Porphyria cutanea tarda mondo_mondo_0015104_medgen_c0162566_orphanet_101330 MONDO:MONDO:0015104,MedGen:C0162566,Orphanet:101330 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROD Hepatoerythropoietic porphyria mondo_mondo_0019799_medgen_c0162569_orphanet_95159 MONDO:MONDO:0019799,MedGen:C0162569,Orphanet:95159 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRFS1 Mitochondrial complex III deficiency, nuclear type 10 mondo_mondo_0032909_medgen_c5394051_omim_618775 MONDO:MONDO:0032909,MedGen:C5394051,OMIM:618775 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRC2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRC1 Parkinsonism with polyneuropathy mondo_mondo_0036193_medgen_c5543299_omim_619279_orphanet_611237 MONDO:MONDO:0036193,MedGen:C5543299,OMIM:619279,Orphanet:611237 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF3B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPB1 UPB1-related disorder upb1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC80 Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13D UNC13D-related disorder unc13d_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures mondo_mondo_0980941_medgen_cn380726_omim_621456 MONDO:MONDO:0980941,MedGen:CN380726,OMIM:621456 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech mondo_mondo_0980940_medgen_cn380723_omim_621455 MONDO:MONDO:0980940,MedGen:CN380723,OMIM:621455 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMPS Oroticaciduria human_phenotype_ontology_hp_0003218_medgen_c0268128_orphanet_30 Human_Phenotype_Ontology:HP:0003218,MedGen:C0268128,Orphanet:30 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFM1 Leukodystrophy, hypomyelinating, 14 mondo_mondo_0033486_medgen_c4693535_omim_617899 MONDO:MONDO:0033486,MedGen:C4693535,OMIM:617899 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBTF Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder mondo_mondo_0044701_medgen_c4540086_omim_617672_orphanet_500180 MONDO:MONDO:0044701,MedGen:C4540086,OMIM:617672,Orphanet:500180 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR4 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBIAD1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYROBP condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYMS Dyskeratosis congenita, digenic mondo_mondo_0031057_medgen_c5774217_omim_620040 MONDO:MONDO:0031057,MedGen:C5774217,OMIM:620040 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TXNDC15 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST2 Focal facial dermal dysplasia type III mondo_mondo_0009203_medgen_c1744559_omim_227260_orphanet_1807_orphanet_398166 MONDO:MONDO:0009203,MedGen:C1744559,OMIM:227260,Orphanet:1807,Orphanet:398166 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST2 Barber-Say syndrome mondo_mondo_0008853_medgen_c1319466_omim_209885_orphanet_1231 MONDO:MONDO:0008853,MedGen:C1319466,OMIM:209885,Orphanet:1231 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUSC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 TULP1-related disorder tulp1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUFM condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUFM Combined oxidative phosphorylation defect type 4 mondo_mondo_0012534_medgen_c1857682_omim_610678_orphanet_254925 MONDO:MONDO:0012534,MedGen:C1857682,OMIM:610678,Orphanet:254925 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBG1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2B Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA4A Spastic ataxia 11, autosomal dominant mondo_mondo_0979230_medgen_c6012733_omim_621226 MONDO:MONDO:0979230,MedGen:C6012733,OMIM:621226 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A TUBA1A-associated tubulinopathy tuba1a_associated_tubulinopathy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUB Retinal dystrophy and obesity mondo_mondo_0014522_medgen_c4015424_omim_616188_orphanet_791 MONDO:MONDO:0014522,MedGen:C4015424,OMIM:616188,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR TTR-related disorder ttr_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Amyloidosis human_phenotype_ontology_hp_0011034_mondo_mondo_0019065_medgen_c0002726_orphanet_69 Human_Phenotype_Ontology:HP:0011034,MONDO:MONDO:0019065,MedGen:C0002726,Orphanet:69 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Noncompaction cardiomyopathy human_phenotype_ontology_hp_0012817_medgen_c1839832 Human_Phenotype_Ontology:HP:0012817,MedGen:C1839832 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Desmin-related myofibrillar myopathy mondo_mondo_0011076_medgen_c1832370_omim_601419_orphanet_363543_orphanet_98909 MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419,Orphanet:363543,Orphanet:98909 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTLL5 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC7A TTC7A-related disorder ttc7a_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC12 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC12 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSR2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPOAP1 Dystonia 22, juvenile-onset mondo_mondo_0957539_medgen_c5830645_omim_620453 MONDO:MONDO:0957539,MedGen:C5830645,OMIM:620453 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN12 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Parastremmatic dwarfism mondo_mondo_0008196_medgen_c1868616_omim_168400_orphanet_2646 MONDO:MONDO:0008196,MedGen:C1868616,OMIM:168400,Orphanet:2646 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV3 Isolated focal non-epidermolytic palmoplantar keratoderma mondo_mondo_0014622_medgen_c4225339_omim_616400_orphanet_448264 MONDO:MONDO:0014622,MedGen:C4225339,OMIM:616400,Orphanet:448264 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM4 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures mondo_mondo_0859365_medgen_c5830244_omim_620224 MONDO:MONDO:0859365,MedGen:C5830244,OMIM:620224 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM1 TRPM1-related disorder trpm1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPC6 TRPC6-related disorder trpc6_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMU TRMU-related disorder trmu_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT5 Combined oxidative phosphorylation defect type 26 mondo_mondo_0014684_medgen_c5567741_omim_616539_orphanet_477684 MONDO:MONDO:0014684,MedGen:C5567741,OMIM:616539,Orphanet:477684 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP13 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP13 Oocyte maturation defect 9 mondo_mondo_0033565_medgen_c5436599_omim_619011 MONDO:MONDO:0033565,MedGen:C5436599,OMIM:619011 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP13 Mosaic variegated aneuploidy syndrome 3 mondo_mondo_0054736_medgen_c4539839_omim_617598 MONDO:MONDO:0054736,MedGen:C4539839,OMIM:617598 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP11 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIOBP Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM28 Wilms tumor 7 mondo_mondo_0979876_medgen_cn379800_omim_621332 MONDO:MONDO:0979876,MedGen:CN379800,OMIM:621332 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC11 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAK1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAIP Seckel syndrome 9 mondo_mondo_0014767_medgen_c4225212_omim_616777_orphanet_808 MONDO:MONDO:0014767,MedGen:C4225212,OMIM:616777,Orphanet:808 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPR condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM4 Bleeding disorder, platelet-type, 25 mondo_mondo_0957580_medgen_c5882683_omim_620486 MONDO:MONDO:0957580,MedGen:C5882683,OMIM:620486 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 TPM2-related disorder tpm2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 Arthrogryposis, distal, type 2B4 mondo_mondo_0800200_medgen_c5193002 MONDO:MONDO:0800200,MedGen:C5193002 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Left ventricular noncompaction 9 mondo_mondo_0800346_medgen_c3808145 MONDO:MONDO:0800346,MedGen:C3808145 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Poly (ADP-Ribose) polymerase inhibitor response poly_adp_ribose_polymerase_inhibitor_response MedGen:CN322715 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Malignant tumor of esophagus mondo_mondo_0007576_medgen_c0546837_omim_133239_orphanet_99977 MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1AIP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1A condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP2B B-cell immunodeficiency, distal limb anomalies, and urogenital malformations mondo_mondo_0012243_medgen_c1836437_omim_609296_orphanet_567502 MONDO:MONDO:0012243,MedGen:C1836437,OMIM:609296,Orphanet:567502 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOMM7 condition not provided condition_not_provided .|MedGen:CN169374 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOE1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNRC6B TNRC6B-related disorder tnrc6b_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNPO3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3K Atrial conduction disease mondo_mondo_0014500_medgen_cn221670_orphanet_436242 MONDO:MONDO:0014500,MedGen:CN221670,Orphanet:436242 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNC1 Hypertrophic cardiomyopathy 13 mondo_mondo_0013195_medgen_c2750472_omim_613243 MONDO:MONDO:0013195,MedGen:C2750472,OMIM:613243 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF1A Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF11A Paget disease of bone 2, early-onset mondo_mondo_0011183_medgen_c4085251_omim_602080 MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNC Autosomal dominant nonsyndromic hearing loss 56 mondo_mondo_0014283_medgen_c3810170_omim_615629_orphanet_90635 MONDO:MONDO:0014283,MedGen:C3810170,OMIM:615629,Orphanet:90635 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Monogenic hearing loss monogenic_hearing_loss . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM98 Nanophthalmos 4 mondo_mondo_0014426_medgen_c4014848_omim_615972_orphanet_35612 MONDO:MONDO:0014426,MedGen:C4014848,OMIM:615972,Orphanet:35612 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM94 TMEM94-related disorder tmem94_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM94 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM63A Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM240 Spinocerebellar ataxia type 21 mondo_mondo_0011833_medgen_c1843891_omim_607454_orphanet_98773 MONDO:MONDO:0011833,MedGen:C1843891,OMIM:607454,Orphanet:98773 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM218 Joubert syndrome 39 mondo_mondo_0030454_medgen_c5562000_omim_619562 MONDO:MONDO:0030454,MedGen:C5562000,OMIM:619562 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 TMEM216-related disorder tmem216_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM147 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126A Autosomal recessive optic atrophy, OPA7 type mondo_mondo_0013069_medgen_c2751812_omim_612989_orphanet_227976_orphanet_98676 MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989,Orphanet:227976,Orphanet:98676 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM107 Orofaciodigital syndrome 16 mondo_mondo_0033045_medgen_c4539729_omim_617563 MONDO:MONDO:0033045,MedGen:C4539729,OMIM:617563 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMCO6 Mitochondrial complex I deficiency, nuclear type 13 mondo_mondo_0032618_medgen_c4748770_omim_618235 MONDO:MONDO:0032618,MedGen:C4748770,OMIM:618235 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMCO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC6 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 TMC1-related disorder tmc1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TM2D3 Neurocardiorenal malformation syndrome mondo_mondo_0980704_medgen_cn380019_omim_621379 MONDO:MONDO:0980704,MedGen:CN380019,OMIM:621379 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR7 Immunodeficiency 74, COVID-19-related, X-linked mondo_mondo_0026767_medgen_c5435745_omim_301051 MONDO:MONDO:0026767,MedGen:C5435745,OMIM:301051 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLE6 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TINF2 Revesz syndrome mondo_mondo_0009990_medgen_c1327916_omim_268130_orphanet_3088 MONDO:MONDO:0009990,MedGen:C1327916,OMIM:268130,Orphanet:3088 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THPO Thrombocytopenia 9 mondo_mondo_0957572_medgen_c5882678_omim_620478 MONDO:MONDO:0957572,MedGen:C5882678,OMIM:620478 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THPO Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THBD Atypical hemolytic-uremic syndrome with thrombomodulin anomaly mondo_mondo_0013044_medgen_c2752036_omim_612926 MONDO:MONDO:0013044,MedGen:C2752036,OMIM:612926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 TGFBR2-related disorder tgfbr2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Lattice corneal dystrophy Type I mondo_mondo_0007380_medgen_c1690006_omim_122200_orphanet_98964 MONDO:MONDO:0007380,MedGen:C1690006,OMIM:122200,Orphanet:98964 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Corneal dystrophy, lattice type 3A mondo_mondo_0012044_medgen_c1837974_omim_608471_orphanet_98964 MONDO:MONDO:0012044,MedGen:C1837974,OMIM:608471,Orphanet:98964 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 TGFB2-related disorder tgfb2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB1 IL10-related early-onset inflammatory bowel disease mondo_mondo_0016542_medgen_c4749850_orphanet_238569 MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB1 Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGDS condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX9 MNS1-related disorder mns1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX15 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX14 Spermatogenic failure 23 mondo_mondo_0054727_medgen_c4540185_omim_617707 MONDO:MONDO:0054727,MedGen:C4540185,OMIM:617707 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT TERT-related disorder tert_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERB1 Spermatogenic failure 60 mondo_mondo_0030493_medgen_c5562035_omim_619646 MONDO:MONDO:0030493,MedGen:C5562035,OMIM:619646 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENT5A Osteogenesis imperfecta, type 18 mondo_mondo_0044329_medgen_c4693736_omim_617952 MONDO:MONDO:0044329,MedGen:C4693736,OMIM:617952 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEKT3 Spermatogenic failure 81 mondo_mondo_0859522_medgen_c5830329_omim_620277 MONDO:MONDO:0859522,MedGen:C5830329,OMIM:620277 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Deafness, neurosensory autosomal recessive 21 medgen_c4016799 MedGen:C4016799 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDRD9 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 Meckel syndrome, type 6 mondo_mondo_0012848_medgen_c2676790_omim_612284_orphanet_564 MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN1 TCTN1-related disorder tctn1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCHH Uncombable hair syndrome 3 mondo_mondo_0014990_medgen_c4310648_omim_617252 MONDO:MONDO:0014990,MedGen:C4310648,OMIM:617252 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF3 Agammaglobulinemia 8b, autosomal recessive mondo_mondo_0859234_medgen_c5676958_omim_619824 MONDO:MONDO:0859234,MedGen:C5676958,OMIM:619824 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 TCF20-related disorder tcf20_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCAP Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX6 TBX6-related disorder tbx6_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX6 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX3 TBX3-related disorder tbx3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX22 Cleft palate with or without ankyloglossia, X-linked mondo_mondo_0010560_medgen_c1844830_omim_303400_orphanet_324601 MONDO:MONDO:0010560,MedGen:C1844830,OMIM:303400,Orphanet:324601 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction mondo_mondo_0032607_medgen_c4748741_omim_618223 MONDO:MONDO:0032607,MedGen:C4748741,OMIM:618223 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 TBX1-related disorder tbx1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Delayed fine motor development human_phenotype_ontology_hp_0010862_medgen_c4023681 Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Aggressive behavior human_phenotype_ontology_hp_0000718_human_phenotype_ontology_hp_0006919_medgen_c0001807 Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 TBL1XR1-related neurodevelopmental disorder tbl1xr1_related_neurodevelopmental_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Autoinflammation with arthritis and vasculitis mondo_mondo_0971173_medgen_c5935634_omim_620880 MONDO:MONDO:0971173,MedGen:C5935634,OMIM:620880 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive mondo_mondo_0009544_medgen_c3806412_omim_248000 MONDO:MONDO:0009544,MedGen:C3806412,OMIM:248000 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D2B TBC1D2B-related disorder tbc1d2b_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Caused by mutation in the TBC1 domain family, member 24 caused_by_mutation_in_the_tbc1_domain_family_member_24 . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D23 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAT condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAP1 MHC class I deficiency 1 mondo_mondo_0971006_medgen_cn377827_omim_604571 MONDO:MONDO:0971006,MedGen:CN377827,OMIM:604571 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Episodic flaccid weakness human_phenotype_ontology_hp_0003752_medgen_c4025572 Human_Phenotype_Ontology:HP:0003752,MedGen:C4025572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAFAZZIN TAFAZZIN-related disorder tafazzin_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF2 Microcephaly-thin corpus callosum-intellectual disability syndrome mondo_mondo_0014273_medgen_c3810080_omim_615599_orphanet_397951 MONDO:MONDO:0014273,MedGen:C3810080,OMIM:615599,Orphanet:397951 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF13 Intellectual disability, autosomal recessive 60 mondo_mondo_0044313_medgen_c4479476_omim_617432 MONDO:MONDO:0044313,MedGen:C4479476,OMIM:617432 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACR3 TACR3-related disorder tacr3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACR3 Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACO1 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SZT2 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYP condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNJ1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNCRIP condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN1 SYN1-related disorder syn1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYK Skin rash human_phenotype_ontology_hp_0000988_medgen_c5779628 Human_Phenotype_Ontology:HP:0000988,MedGen:C5779628 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYK Immunodeficiency human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYK Decreased circulating immunoglobulin concentration human_phenotype_ontology_hp_0004313_human_phenotype_ontology_hp_0010703_medgen_c4048270 Human_Phenotype_Ontology:HP:0004313,Human_Phenotype_Ontology:HP:0010703,MedGen:C4048270 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYK Colitis human_phenotype_ontology_hp_0002583_mondo_mondo_0005292_medgen_c0009319 Human_Phenotype_Ontology:HP:0002583,MONDO:MONDO:0005292,MedGen:C0009319 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYK Arthritis human_phenotype_ontology_hp_0001369_mondo_mondo_0005578_medgen_c0003864 Human_Phenotype_Ontology:HP:0001369,MONDO:MONDO:0005578,MedGen:C0003864 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCP3 Spermatogenic failure 4 mondo_mondo_0010052_medgen_c0232981_omim_270960 MONDO:MONDO:0010052,MedGen:C0232981,OMIM:270960 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCP2 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCE2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCE1 Premature ovarian failure 12 mondo_mondo_0014844_medgen_c4310782_omim_616947 MONDO:MONDO:0014844,MedGen:C4310782,OMIM:616947 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SV2A Developmental and epileptic encephalopathy 113 mondo_mondo_0958330_medgen_c5935597_omim_620772 MONDO:MONDO:0958330,MedGen:C5935597,OMIM:620772 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SULT2B1 Autosomal recessive congenital ichthyosis 2 mondo_mondo_0009439_medgen_c3888093_omim_242100_orphanet_281122_orphanet_79394 MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU SUFU-related disorder sufu_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE hemophagocytic_lymphohistiocytosis_familial_5_without_microvillus_inclusion_disease . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 STXBP1-related disorder stxbp1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1A Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX16 Pseudohypoparathyroidism type 1B mondo_mondo_0011301_medgen_c1864100_omim_603233_orphanet_94089 MONDO:MONDO:0011301,MedGen:C1864100,OMIM:603233,Orphanet:94089 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STS condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRA6 Anophthalmia-microphthalmia syndrome medgen_c5680330_orphanet_98555 MedGen:C5680330,Orphanet:98555 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK36 Ciliary dyskinesia, primary, 46 mondo_mondo_0030332_medgen_c5543646_omim_619436 MONDO:MONDO:0030332,MedGen:C5543646,OMIM:619436 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STING1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT5B Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant mondo_mondo_0100219_medgen_c5436546_omim_618985 MONDO:MONDO:0100219,MedGen:C5436546,OMIM:618985 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT3 STAT3-related disorder stat3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAR STAR-related disorder star_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRY condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRRM2 SRRM2-related disorder srrm2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRP54 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRP54 Shwachman-Diamond syndrome 1 mondo_mondo_0044204_medgen_c4692625_omim_260400 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SREBF1 IFAP syndrome 2 mondo_mondo_0100221_medgen_c5436607_omim_619016 MONDO:MONDO:0100221,MedGen:C5436607,OMIM:619016 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SREBF1 IFAP syndrome 1, with or without BRESHECK syndrome mondo_mondo_0100213_medgen_c5399971_omim_308205_orphanet_2273_orphanet_85284 MONDO:MONDO:0100213,MedGen:C5399971,OMIM:308205,Orphanet:2273,Orphanet:85284 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia mondo_mondo_0957813_medgen_c5882701_omim_620538 MONDO:MONDO:0957813,MedGen:C5882701,OMIM:620538 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRTN Progeroid features-hepatocellular carcinoma predisposition syndrome mondo_mondo_0014527_medgen_c4015461_omim_616200_orphanet_435953 MONDO:MONDO:0014527,MedGen:C4015461,OMIM:616200,Orphanet:435953 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED2 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOP Neurodevelopmental disorder with microcephaly and dysmorphic facies mondo_mondo_0032942_medgen_c5394218_omim_618828_orphanet_662179 MONDO:MONDO:0032942,MedGen:C5394218,OMIM:618828,Orphanet:662179 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOCD1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN SPEN-related disorder spen_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 SPATA7-related disorder spata7_related_disorder MedGen:CN239422 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 Premature ovarian failure 25 mondo_mondo_0975843_medgen_c5975510_omim_621002 MONDO:MONDO:0975843,MedGen:C5975510,OMIM:621002 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Spastic paraparesis human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPARC Osteogenesis imperfecta type 17 mondo_mondo_0014672_medgen_c4225301_omim_616507_orphanet_666 MONDO:MONDO:0014672,MedGen:C4225301,OMIM:616507,Orphanet:666 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG1 SPAG1-related disorder spag1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG1 Autosomal dominant nocturnal frontal lobe epilepsy 5 mondo_mondo_0014002_medgen_c3554306_omim_615005_orphanet_98784 MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP7 Osteogenesis imperfecta type 12 mondo_mondo_0013460_medgen_c3151433_omim_613849_orphanet_666 MONDO:MONDO:0013460,MedGen:C3151433,OMIM:613849,Orphanet:666 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 ACAMPOMELIC CAMPOMELIC DYSPLASIA medgen_c1861923 MedGen:C1861923 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX6 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX18 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome mondo_mondo_0019073_medgen_c4317151_omim_137940_orphanet_69735 MONDO:MONDO:0019073,MedGen:C4317151,OMIM:137940,Orphanet:69735 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX17 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX11 SOX11-related disorder sox11_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Waardenburg syndrome type 2E, with neurologic involvement waardenburg_syndrome_type_2e_with_neurologic_involvement MedGen:CN069053 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS2 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON SON-related disorder son_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOHLH1 Ovarian dysgenesis 5 mondo_mondo_0054666_medgen_c4540141_omim_617690 MONDO:MONDO:0054666,MedGen:C4540141,OMIM:617690 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOCS1 AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY autoinflammatory_syndrome_familial_without_immunodeficiency . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX27 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPE Hypotrichosis 11 mondo_mondo_0014027_medgen_c3554409_omim_615059_orphanet_55654 MONDO:MONDO:0014027,MedGen:C3554409,OMIM:615059,Orphanet:55654 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPB condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNF8 Neurodevelopmental disorder plus optic atrophy mondo_mondo_0968947_medgen_c5935605_omim_620784 MONDO:MONDO:0968947,MedGen:C5935605,OMIM:620784 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNCA Lewy body dementia mondo_mondo_0007488_medgen_c0752347_omim_127750 MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMS SMS-related disorder sms_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMOC2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 Heart and brain malformation syndrome mondo_mondo_0014833_medgen_c4310793_omim_616920 MONDO:MONDO:0014833,MedGen:C4310793,OMIM:616920 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC5 Atelis syndrome 2 mondo_mondo_0859576_medgen_c5774282_omim_620185 MONDO:MONDO:0859576,MedGen:C5774282,OMIM:620185 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC3 De Lange syndrome mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCD2 Specific granule deficiency 1 mondo_mondo_0044207_medgen_c4551556_omim_245480_orphanet_169142 MONDO:MONDO:0044207,MedGen:C4551556,OMIM:245480,Orphanet:169142 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCD2 Autosomal recessive severe congenital neutropenia mondo_mondo_0028226_medgen_c5447331_orphanet_439849 MONDO:MONDO:0028226,MedGen:C5447331,Orphanet:439849 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC2 SMARCC2-related BAFopathy smarcc2_related_bafopathy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Schwannomatosis mondo_mondo_0008075_mesh_c536641_medgen_c1335929_omim_ps162091_orphanet_93921 MONDO:MONDO:0008075,MeSH:C536641,MedGen:C1335929,OMIM:PS162091,Orphanet:93921 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 SMARCB1-related BAFopathy smarcb1_related_bafopathy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAD1 Keratoderma with scleroatrophy of the extremities mondo_mondo_0008416_medgen_c0406767_omim_181600_orphanet_384 MONDO:MONDO:0008416,MedGen:C0406767,OMIM:181600,Orphanet:384 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD9 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 SMAD6-related disorder smad6_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Familial aortopathy familial_aortopathy MedGen:CN078214 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK6 High myopia-sensorineural deafness syndrome mondo_mondo_0009082_medgen_c3806275_omim_221200_orphanet_363396 MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200,Orphanet:363396 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLFN14 Platelet-type bleeding disorder 20 mondo_mondo_0014830_medgen_c4310797_omim_616913_orphanet_466806 MONDO:MONDO:0014830,MedGen:C4310797,OMIM:616913,Orphanet:466806 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO1B3 SLCO1B3-related disorder slco1b3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A1 Lichtenstein-Knorr syndrome mondo_mondo_0014572_medgen_c4225383_omim_616291_orphanet_448251 MONDO:MONDO:0014572,MedGen:C4225383,OMIM:616291,Orphanet:448251 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A7 SLC7A7-related disorder slc7a7_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A19 SLC6A19-related disorder slc6a19_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A6 Peripheral motor neuropathy, childhood-onset, biotin-responsive mondo_mondo_0859255_medgen_c5676997_omim_619903 MONDO:MONDO:0859255,MedGen:C5676997,OMIM:619903 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A3 Progressive bulbar palsy of childhood mondo_mondo_0100428_medgen_c0393540_omim_211500 MONDO:MONDO:0100428,MedGen:C0393540,OMIM:211500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A4 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A11 SLC4A11-related disorder slc4a11_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A11 Corneal dystrophy human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A10 SLC4A10-related neurodevelopmental disorder slc4a10_related_neurodevelopmental_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Distal renal tubular acidosis human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC44A1 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline mondo_mondo_0030028_medgen_c5394335_omim_618868 MONDO:MONDO:0030028,MedGen:C5394335,OMIM:618868 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A5 Myopia 24, autosomal dominant mondo_mondo_0014411_medgen_c4014762_omim_615946 MONDO:MONDO:0014411,MedGen:C4014762,OMIM:615946 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35B2 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia mondo_mondo_0859518_medgen_c5830312_omim_620269 MONDO:MONDO:0859518,MedGen:C5830312,OMIM:620269 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A2 Zinc deficiency, transient neonatal mondo_mondo_0011973_medgen_c1842486_omim_608118 MONDO:MONDO:0011973,MedGen:C1842486,OMIM:608118 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A10 SLC2A10-related disorder slc2a10_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC29A3 SLC29A3-related disorder slc29a3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A8 Spermatogenic failure 3 mondo_mondo_0011720_medgen_c4721889_omim_606766_orphanet_276234 MONDO:MONDO:0011720,MedGen:C4721889,OMIM:606766,Orphanet:276234 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A3 Polyhydramnios human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A3 Hydrops fetalis human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A22 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 CITRIN DEFICIENCY, NEONATAL ONSET citrin_deficiency_neonatal_onset . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A5 SLC17A5-related disorder slc17a5_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A1 SLC16A1-related disorder slc16a1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC14A1 Jk-null variant jk_null_variant . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A4 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A4 Norum disease mondo_mondo_0009515_medgen_c0023195_omim_245900_orphanet_79293 MONDO:MONDO:0009515,MedGen:C0023195,OMIM:245900,Orphanet:79293 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A4 Fish-eye disease mondo_mondo_0007620_medgen_c0342895_omim_136120_orphanet_650_orphanet_79292 MONDO:MONDO:0007620,MedGen:C0342895,OMIM:136120,Orphanet:650,Orphanet:79292 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 Hearing loss medgen_c3887873 MedGen:C3887873 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A1 SLC12A1-related disorder slc12a1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A1 Nephrolithiasis human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A1 Nephrocalcinosis human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC3 SKIC3-related disorder skic3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX6 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIGMAR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHMT2 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities mondo_mondo_0030866_medgen_c5436848_omim_619121 MONDO:MONDO:0030866,MedGen:C5436848,OMIM:619121 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 SH3TC2-related disorder sh3tc2_related_disorder MedGen:CN239303 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2D1A Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGMS2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Qualitative or quantitative defects of beta-sarcoglycan mondo_mondo_0016142_medgen_c2930900_orphanet_207063 MONDO:MONDO:0016142,MedGen:C2930900,Orphanet:207063 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA Sarcoglycanopathy mondo_mondo_0016140_medgen_c2936331_orphanet_207052 MONDO:MONDO:0016140,MedGen:C2936331,Orphanet:207052 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPB SFTPB-related disorder sftpb_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B1 Myelodysplastic syndrome mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A SETD1A-related disorder setd1a_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SET Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPING1 C1 inhibitor deficiency mondo_mondo_0007361_medgen_c1852700_omim_120790 MONDO:MONDO:0007361,MedGen:C1852700,OMIM:120790 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINF2 Alpha-2-plasmin inhibitor deficiency mondo_mondo_0009883_medgen_c2752081_omim_262850_orphanet_79 MONDO:MONDO:0009883,MedGen:C2752081,OMIM:262850,Orphanet:79 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPIND1 Heparin cofactor II deficiency mondo_mondo_0012876_medgen_c0398626_omim_612356 MONDO:MONDO:0012876,MedGen:C0398626,OMIM:612356 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINC1 Deep venous thrombosis human_phenotype_ontology_hp_0002625_mesh_d020246_medgen_c0149871 Human_Phenotype_Ontology:HP:0002625,MeSH:D020246,MedGen:C0149871 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINB8 Peeling skin syndrome 5 mondo_mondo_0014923_medgen_c4310710_omim_617115 MONDO:MONDO:0014923,MedGen:C4310710,OMIM:617115 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINB6 Autosomal recessive nonsyndromic hearing loss 91 mondo_mondo_0013269_medgen_c3150704_omim_613453_orphanet_90636 MONDO:MONDO:0013269,MedGen:C3150704,OMIM:613453,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERAC1 SERAC1-related disorder serac1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPTIN9 Amyotrophic neuralgia mondo_mondo_0008076_medgen_c1834304_omim_162100_orphanet_2901 MONDO:MONDO:0008076,MedGen:C1834304,OMIM:162100,Orphanet:2901 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPHS1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON SEPN1-related disorder sepn1_related_disorder MedGen:CN239420 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENBP1 Extra oral halitosis extra_oral_halitosis . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SECISBP2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC63 SEC63-related disorder sec63_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC23A Craniolenticulosutural dysplasia mondo_mondo_0011911_medgen_c1843042_omim_607812_orphanet_50814 MONDO:MONDO:0011911,MedGen:C1843042,OMIM:607812,Orphanet:50814 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDR9C7 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDR9C7 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDR9C7 Ichthyosis, congenital, autosomal recessive 13 mondo_mondo_0033092_medgen_c4539772_omim_617574 MONDO:MONDO:0033092,MedGen:C4539772,OMIM:617574 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD SDHD-related disorder sdhd_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC Inherited phaeochromocytoma and paraganglioma excluding NF1 inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC Carney triad mondo_mondo_0011424_medgen_c1858592_omim_604287_orphanet_139411 MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1G Bronchiectasis with or without elevated sweat chloride 3 mondo_mondo_0013112_medgen_c2751324_omim_613071_orphanet_60033 MONDO:MONDO:0013112,MedGen:C2751324,OMIM:613071,Orphanet:60033 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1B Pseudohypoaldosteronism, type IB1, autosomal recessive mondo_mondo_0009917_medgen_c5774176_omim_264350_orphanet_171876_orphanet_756 MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Autosomal recessive inheritance human_phenotype_ontology_hp_0000007_medgen_c0441748 Human_Phenotype_Ontology:HP:0000007,MedGen:C0441748 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Conduction system disorder efo_the_experimental_factor_ontology_efo_0005137_mondo_mondo_0005449_medgen_c2748542 EFO:_The_Experimental_Factor_Ontology:EFO_0005137,MONDO:MONDO:0005449,MedGen:C2748542 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Skeletal muscle channelopathy skeletal_muscle_channelopathy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Normokalemic periodic paralysis, potassium-sensitive medgen_c1868433 MedGen:C1868433 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 SCAF4-related disorder scaf4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Shwachman syndrome mondo_mondo_0009833_medgen_c0272170_omim_ps260400_orphanet_811 MONDO:MONDO:0009833,MedGen:C0272170,OMIM:PS260400,Orphanet:811 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMHD1 SAMHD1-related disorder samhd1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMHD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9 Normophosphatemic familial tumoral calcinosis mondo_mondo_0012502_medgen_c1864861_omim_610455_orphanet_306658_orphanet_53715 MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455,Orphanet:306658,Orphanet:53715 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD7 MACULAR DYSTROPHY WITH CONE DYSFUNCTION macular_dystrophy_with_cone_dysfunction . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL4 Oculootoradial syndrome mondo_mondo_0007836_medgen_c1327918_omim_147750_orphanet_2307 MONDO:MONDO:0007836,MedGen:C1327918,OMIM:147750,Orphanet:2307 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG Retinitis pigmentosa 96 mondo_mondo_0859367_medgen_c5774303_omim_620228 MONDO:MONDO:0859367,MedGen:C5774303,OMIM:620228 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Multiminicore myopathy mondo_mondo_0018948_medgen_c0270962_orphanet_598 MONDO:MONDO:0018948,MedGen:C0270962,Orphanet:598 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUSF1 Familial renal glucosuria mondo_mondo_0009297_medgen_c3245525_omim_233100_orphanet_69076 MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUBCN Autosomal recessive spinocerebellar ataxia 15 mondo_mondo_0014311_medgen_c3810326_omim_615705_orphanet_404499 MONDO:MONDO:0014311,MedGen:C3810326,OMIM:615705,Orphanet:404499 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO1 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome mondo_mondo_0012530_medgen_c3149931_omim_610644_orphanet_85112 MONDO:MONDO:0012530,MedGen:C3149931,OMIM:610644,Orphanet:85112 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH1 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS24 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS17 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPIA condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L COACH syndrome 1 mondo_mondo_0800103_medgen_c5435651_omim_216360_orphanet_1454 MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Leber congenital amaurosis 1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR X-linked RPGR-related disorders x_linked_rpgr_related_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 Retinitis pigmentosa 3 mondo_mondo_0010227_medgen_c1845667_omim_300029_orphanet_791 MONDO:MONDO:0010227,MedGen:C1845667,OMIM:300029,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1L1 RP1L1-related disorder rp1l1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 ROBO1-related disorder robo1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU7-1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU2-2 Developmental and epileptic encephalopathy 119 mondo_mondo_1060177_medgen_cn379761_omim_621304 MONDO:MONDO:1060177,MedGen:CN379761,OMIM:621304 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNPC3 Decreased response to growth hormone stimulation test human_phenotype_ontology_hp_0000824_human_phenotype_ontology_hp_0000861_human_phenotype_ontology_hp_0008195_human_phenotype_ontology_hp_0008206_medgen_c5539399 Human_Phenotype_Ontology:HP:0000824,Human_Phenotype_Ontology:HP:0000861,Human_Phenotype_Ontology:HP:0008195,Human_Phenotype_Ontology:HP:0008206,MedGen:C5539399 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF6 Esophageal squamous cell carcinoma, somatic medgen_c4016881 MedGen:C4016881 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF43 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF13 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF113A Trichothiodystrophy 5, nonphotosensitive mondo_mondo_0010495_medgen_c4225420_omim_300953_orphanet_33364 MONDO:MONDO:0010495,MedGen:C4225420,OMIM:300953,Orphanet:33364 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2C condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2C Aicardi-Goutieres syndrome 3 mondo_mondo_0012471_medgen_c1835916_omim_610329_orphanet_51 MONDO:MONDO:0012471,MedGen:C1835916,OMIM:610329,Orphanet:51 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 mondo_mondo_0014656_medgen_c4225312_omim_616479_orphanet_329336 MONDO:MONDO:0014656,MedGen:C4225312,OMIM:616479,Orphanet:329336 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND5B Dyskeratosis congenita, autosomal recessive 2 mondo_mondo_0013519_medgen_c3151441_omim_613987_orphanet_1775 MONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987,Orphanet:1775 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND5B Dyskeratosis congenita, autosomal recessive 1 mondo_mondo_0009136_medgen_c1857144_omim_224230_orphanet_1775 MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230,Orphanet:1775 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK1 Inborn error of immunity mondo_mondo_0003778_medgen_c0398686_orphanet_101997 MONDO:MONDO:0003778,MedGen:C0398686,Orphanet:101997 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK1 IL10-related early-onset inflammatory bowel disease mondo_mondo_0016542_medgen_c4749850_orphanet_238569 MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RINT1 Infantile liver failure syndrome 3 mondo_mondo_0032844_medgen_c5231437_omim_618641 MONDO:MONDO:0032844,MedGen:C5231437,OMIM:618641 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIGI Singleton-Merten syndrome 2 mondo_mondo_0014575_medgen_c4225380_omim_616298_orphanet_85191 MONDO:MONDO:0014575,MedGen:C4225380,OMIM:616298,Orphanet:85191 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOA Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies mondo_mondo_0032884_medgen_c5231477_omim_618727 MONDO:MONDO:0032884,MedGen:C5231477,OMIM:618727 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Retinitis pigmentosa 4, autosomal recessive medgen_c4016366 MedGen:C4016366 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXANK condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXANK MHC class II deficiency 1 mondo_mondo_0971005_medgen_cn377826_omim_209920 MONDO:MONDO:0971005,MedGen:CN377826,OMIM:209920 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX5 MHC class II deficiency 5 mondo_mondo_0971016_medgen_c1859538_omim_620818 MONDO:MONDO:0971016,MedGen:C1859538,OMIM:620818 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RETREG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Medullary thyroid carcinoma human_phenotype_ontology_hp_0002865_mondo_mondo_0015277_mesh_c536914_medgen_c0238462_orphanet_1332 Human_Phenotype_Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orphanet:1332 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Congenital central hypoventilation mondo_mondo_0800031_medgen_c1275808_omim_ps209880_orphanet_661_orphanet_99803 MONDO:MONDO:0800031,MedGen:C1275808,OMIM:PS209880,Orphanet:661,Orphanet:99803 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 Spinal muscular atrophy, distal, autosomal recessive, 6 mondo_mondo_0859279_medgen_c5774201_omim_620011 MONDO:MONDO:0859279,MedGen:C5774201,OMIM:620011 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH11 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome mondo_mondo_0014495_medgen_c4015242_omim_616108_orphanet_436245 MONDO:MONDO:0014495,MedGen:C4015242,OMIM:616108,Orphanet:436245 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCBTB1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Progressive retinal dystrophy due to retinol transport defect mondo_mondo_0014060_medgen_c3554593_omim_615147_orphanet_352718 MONDO:MONDO:0014060,MedGen:C3554593,OMIM:615147,Orphanet:352718 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Microphthalmia, isolated, with coloboma 10 mondo_mondo_0014635_medgen_c4225330_omim_616428_orphanet_98938 MONDO:MONDO:0014635,MedGen:C4225330,OMIM:616428,Orphanet:98938 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBCK1 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBCK1 Polyglucosan body myopathy 1 with immunodeficiency medgen_c4017231 MedGen:C4017231 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBBP8 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBBP8 Seckel syndrome 2 mondo_mondo_0011715_medgen_c1847572_omim_606744_orphanet_808 MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744,Orphanet:808 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Wooly hair, autosomal recessive 1, with or without hypotrichosis mondo_mondo_0800312_medgen_c1848435 MONDO:MONDO:0800312,MedGen:C1848435 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAX2 Cone-rod dystrophy 11 mondo_mondo_0012483_medgen_c1835865_omim_610381_orphanet_1872 MONDO:MONDO:0012483,MedGen:C1835865,OMIM:610381,Orphanet:1872 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAX condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Angioosteohypertrophic syndrome mondo_mondo_0007864_mesh_d007715_medgen_c0022739_omim_149000_orphanet_2346 MONDO:MONDO:0007864,MeSH:D007715,MedGen:C0022739,OMIM:149000,Orphanet:2346 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 RAG2-related disorder rag2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Noonan syndrome with multiple lentigines mondo_mondo_0007893_medgen_c0175704_omim_ps151100_orphanet_500 MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D RAD51D-related cancer predisposition mondo_mondo_0700274_medgen_cn377763 MONDO:MONDO:0700274,MedGen:CN377763 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51 Mirror movements 2 mondo_mondo_0013790_medgen_c3281089_omim_614508_orphanet_238722 MONDO:MONDO:0013790,MedGen:C3281089,OMIM:614508,Orphanet:238722 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RACGAP1 Anemia, congenital dyserythropoietic, type IIIb medgen_c5677049 MedGen:C5677049 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC3 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC2 Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia mondo_mondo_0033554_medgen_c5436549_omim_618986 MONDO:MONDO:0033554,MedGen:C5436549,OMIM:618986 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB7A Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP2 RAB3GAP2-related disorder rab3gap2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB39B Early-onset parkinsonism-intellectual disability syndrome mondo_mondo_0010709_medgen_c0796195_omim_311510_orphanet_2379 MONDO:MONDO:0010709,MedGen:C0796195,OMIM:311510,Orphanet:2379 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB28 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB23 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB23 RAB23-related disorder rab23_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11B condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRSL1 Cardiomyopathy, mitochondrial medgen_c3532239 MedGen:C3532239 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM PYGM-related disorder pygm_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS1 PUS1-related disorder pus1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTS PTS-related disorder pts_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTS Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency medgen_c4017280 MedGen:C4017280 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN4 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN VACTERL with hydrocephalus mondo_mondo_0010172_medgen_c1848599_omim_276950_orphanet_3412 MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:3412 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN PTEN hamartoma tumor syndromes pten_hamartoma_tumor_syndromes . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Glioma human_phenotype_ontology_hp_0009733_mondo_mondo_0021042_mesh_d005910_medgen_c0017638_orphanet_182067 Human_Phenotype_Ontology:HP:0009733,MONDO:MONDO:0021042,MeSH:D005910,MedGen:C0017638,Orphanet:182067 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTDSS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSTPIP1 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome mondo_mondo_0011462_medgen_c1858361_omim_604416_orphanet_69126 MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMG2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC5 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB10 Immunodeficiency 121 with autoinflammation mondo_mondo_0971001_medgen_c5935616_omim_620807 MONDO:MONDO:0971001,MedGen:C5935616,OMIM:620807 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSKH1 Cholestasis, progressive familial intrahepatic, 13 mondo_mondo_0975807_medgen_c5975422_omim_620962 MONDO:MONDO:0975807,MedGen:C5975422,OMIM:620962 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Alzheimer disease, familial, with spastic paraparesis and unusual plaques medgen_c4015780 MedGen:C4015780 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP PSAP-related disorder psap_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS23 Familial exudative vitreoretinopathy mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 PRRT2-associated paroxysmal movement disorder mondo_mondo_0100556_medgen_cn377744 MONDO:MONDO:0100556,MedGen:CN377744 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 PRR12-related disorder prr12_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Iris coloboma human_phenotype_ontology_hp_0000612_mondo_mondo_0020356_medgen_c0240063_orphanet_98944 Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Abnormality of vision human_phenotype_ontology_hp_0000504_medgen_c4025846 Human_Phenotype_Ontology:HP:0000504,MedGen:C4025846 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 maculopathy maculopathy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH Amyotrophic lateral sclerosis type 1 mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROK2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP Fatal familial insomnia mondo_mondo_0010808_medgen_c0206042_omim_600072_orphanet_466 MONDO:MONDO:0010808,MedGen:C0206042,OMIM:600072,Orphanet:466 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRLR Familial hyperprolactinemia mondo_mondo_0014250_medgen_c4706551_omim_615555_orphanet_397685 MONDO:MONDO:0014250,MedGen:C4706551,OMIM:615555,Orphanet:397685 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN PRKN-related disorder prkn_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKDC Severe combined immunodeficiency due to DNA-PKcs deficiency mondo_mondo_0014423_medgen_c4014833_omim_615966_orphanet_317425 MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1B condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRIM1 Seckel syndrome mondo_mondo_0019342_medgen_c0265202_omim_ps210600_orphanet_324761_orphanet_808 MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:324761,Orphanet:808 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRIM1 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome mondo_mondo_0859276_medgen_c5774198_omim_620005 MONDO:MONDO:0859276,MedGen:C5774198,OMIM:620005 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREPL PREPL-related disorder prepl_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDX3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM9 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM6 Patent ductus arteriosus 3 mondo_mondo_0024266_medgen_c4310753_omim_617039 MONDO:MONDO:0024266,MedGen:C4310753,OMIM:617039 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM16 Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM13 Pontocerebellar hypoplasia, IIA 17 mondo_mondo_0030890_medgen_c5676999_omim_619909 MONDO:MONDO:0030890,MedGen:C5676999,OMIM:619909 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM13 North Carolina macular dystrophy mondo_mondo_0007630_medgen_c0730294_omim_136550_orphanet_75327 MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550,Orphanet:75327 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 PPT1-related disorder ppt1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R3C Spermatogenic failure 36 mondo_mondo_0032739_medgen_c5193086_omim_618420 MONDO:MONDO:0032739,MedGen:C5193086,OMIM:618420 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R1A PPP2R1A-related disorder ppp2r1a_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R21 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG PPARG-related disorder pparg_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 mondo_mondo_0957263_medgen_c5830496_omim_620367 MONDO:MONDO:0957263,MedGen:C5830496,OMIM:620367 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 Cerebroretinal microangiopathy with calcifications and cysts 3 mondo_mondo_0957264_medgen_c5830497_omim_620368 MONDO:MONDO:0957264,MedGen:C5830497,OMIM:620368 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 POMT1-related disorder pomt1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMP Proteasome-associated autoinflammatory syndrome 2 mondo_mondo_0054700_medgen_c4747989_omim_618048 MONDO:MONDO:0054700,MedGen:C4747989,OMIM:618048 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 mondo_mondo_0029135_medgen_c4748320_omim_618135 MONDO:MONDO:0029135,MedGen:C4748320,OMIM:618135 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMC POMC-related disorder pomc_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMC Early onset severe obesity medgen_c4013980 MedGen:C4013980 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3H Optic atrophy 9 mondo_mondo_0014571_medgen_c4225384_omim_616289 MONDO:MONDO:0014571,MedGen:C4225384,OMIM:616289 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3GL Short stature, oligodontia, dysmorphic facies, and motor delay mondo_mondo_0030992_medgen_c5543206_omim_619234 MONDO:MONDO:0030992,MedGen:C5543206,OMIM:619234 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B POLR3B-related disorder mondo_mondo_0700277_medgen_cn378588 MONDO:MONDO:0700277,MedGen:CN378588 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Wiedemann-Rautenstrauch-like progeroid syndrome wiedemann_rautenstrauch_like_progeroid_syndrome . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Waardenburg syndrome type 2E, with neurologic involvement waardenburg_syndrome_type_2e_with_neurologic_involvement MedGen:CN069053 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1B Treacher Collins syndrome mondo_mondo_0002457_medgen_c0242387_omim_ps154500_orphanet_861 MONDO:MONDO:0002457,MedGen:C0242387,OMIM:PS154500,Orphanet:861 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1A condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF POLG-related disorder medgen_c4763519 MedGen:C4763519 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Mitochondrial DNA depletion syndrome mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Childhood myocerebrohepatopathy spectrum medgen_c3713421 MedGen:C3713421 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE POLE-related disorder pole_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLD1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLA1 Inherited aplastic anemia mondo_mondo_0001713_medgen_c5681331_orphanet_68383 MONDO:MONDO:0001713,MedGen:C5681331,Orphanet:68383 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGLUT1 Autosomal recessive limb-girdle muscular dystrophy type 2R1 mondo_mondo_0014977_medgen_c4310660_omim_617232_orphanet_480682 MONDO:MONDO:0014977,MedGen:C4310660,OMIM:617232,Orphanet:480682 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPO Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 PNPLA6-related disorder pnpla6_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNLDC1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMVK Linear porokeratosis mondo_mondo_0023246_mesh_d017499_medgen_c0302319 MONDO:MONDO:0023246,MeSH:D017499,MedGen:C0302319 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Roussy-Lévy syndrome mondo_mondo_0008392_medgen_c0205713_omim_180800_orphanet_3115 MONDO:MONDO:0008392,MedGen:C0205713,OMIM:180800,Orphanet:3115 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 PMP22-related disorder pmp22_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS3 Hernia, anterior diaphragmatic mondo_mondo_0010606_medgen_c1844025_omim_306950_orphanet_2140 MONDO:MONDO:0010606,MedGen:C1844025,OMIM:306950,Orphanet:2140 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 PLOD1-related disorder plod1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Hypertrophic cardiomyopathy 18 mondo_mondo_0013475_medgen_c3151265_omim_613874 MONDO:MONDO:0013475,MedGen:C3151265,OMIM:613874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHM1 Osteopetrosis, autosomal dominant 3 mondo_mondo_0020848_medgen_c4748197_omim_618107 MONDO:MONDO:0020848,MedGen:C4748197,OMIM:618107 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHA7 Cleft lip with or without cleft palate medgen_c0810364_orphanet_1991 MedGen:C0810364,Orphanet:1991 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCG2 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation mondo_mondo_0013944_medgen_c3553961_omim_614878_orphanet_324530 MONDO:MONDO:0013944,MedGen:C3553961,OMIM:614878,Orphanet:324530 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCD1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAAT3 Lipodystrophy, familial partial, type 9 mondo_mondo_0958034_medgen_c5882746_omim_620683_orphanet_686999 MONDO:MONDO:0958034,MedGen:C5882746,OMIM:620683,Orphanet:686999 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G7 Platelet-activating factor acetylhydrolase deficiency human_phenotype_ontology_hp_0040175_mondo_mondo_0013663_medgen_c3280315_omim_614278 Human_Phenotype_Ontology:HP:0040175,MONDO:MONDO:0013663,MedGen:C3280315,OMIM:614278 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Sudden unexplained death medgen_c0520806 MedGen:C0520806 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Urogenital tract malformation human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Multiple renal cysts human_phenotype_ontology_hp_0005562_medgen_c0431718 Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Familial cystic renal disease mondo_mondo_0019741_medgen_c5680285_orphanet_93587 MONDO:MONDO:0019741,MedGen:C5680285,Orphanet:93587 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Caroli disease mondo_mondo_0010913_medgen_c0162510_omim_600643_orphanet_53035 MONDO:MONDO:0010913,MedGen:C0162510,OMIM:600643,Orphanet:53035 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Polycystic liver disease 1 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Multiple renal cysts human_phenotype_ontology_hp_0005562_medgen_c0431718 Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Hepatic cysts human_phenotype_ontology_hp_0001407_medgen_c0267834 Human_Phenotype_Ontology:HP:0001407,MedGen:C0267834 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIKFYVE PIKFYVE-related disorder pikfyve_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 PIK3R2-related disorder pik3r2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 CLOVES syndrome mondo_mondo_0013038_medgen_c2752042_omim_612918_orphanet_140944 MONDO:MONDO:0013038,MedGen:C2752042,OMIM:612918,Orphanet:140944 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CG Immunodeficiency 97 with autoinflammation mondo_mondo_0030717_medgen_c5676946_omim_619802 MONDO:MONDO:0030717,MedGen:C5676946,OMIM:619802 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Segmental undergrowth associated with lymphatic malformation segmental_undergrowth_associated_with_lymphatic_malformation . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Rare combined vascular malformation medgen_c5681115_orphanet_458837 MedGen:C5681115,Orphanet:458837 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA OVARIAN CANCER, EPITHELIAL, SOMATIC medgen_c1868358 MedGen:C1868358 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Lip and oral cavity carcinoma mondo_mondo_0023644_medgen_c0220641 MONDO:MONDO:0023644,MedGen:C0220641 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA HEMIFACIAL MYOHYPERPLASIA, SOMATIC hemifacial_myohyperplasia_somatic . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Cerebrofacial Vascular Metameric Syndrome (CVMS) cerebrofacial_vascular_metameric_syndrome_cvms . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Capillary malformation human_phenotype_ontology_hp_0025104_mondo_mondo_0016231_medgen_c0340803_orphanet_211247 Human_Phenotype_Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC cerebral_cavernous_malformations_4_somatic . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGU Glycosylphosphatidylinositol biosynthesis defect 21 mondo_mondo_0032824_medgen_c5231419_omim_618590 MONDO:MONDO:0032824,MedGen:C5231419,OMIM:618590 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGT PIGT-related disorder pigt_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ PIGQ-related disorder pigq_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGA Neurodevelopmental disorder with epilepsy and hemochromatosis neurodevelopmental_disorder_with_epilepsy_and_hemochromatosis MedGen:CN307964,OMIM:301072 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 Blood group, ER medgen_c5703066_omim_620207 MedGen:C5703066,OMIM:620207 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIDD1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIBF1 PIBF1-related disorder pibf1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KA Heparin cofactor II deficiency mondo_mondo_0012876_medgen_c0398626_omim_612356 MONDO:MONDO:0012876,MedGen:C0398626,OMIM:612356 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHYH Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKG2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 Glycogen phosphorylase kinase deficiency mondo_mondo_0700291_medgen_c0268147_orphanet_370 MONDO:MONDO:0700291,MedGen:C0268147,Orphanet:370 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF6 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM3 Hyper-IgE syndrome mondo_mondo_0018037_medgen_c3887645_omim_ps147060_orphanet_331223 MONDO:MONDO:0018037,MedGen:C3887645,OMIM:PS147060,Orphanet:331223 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM1 PGM1-related disorder pgm1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAM2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFN1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFAS Phosphoribosylformylglycineamidine synthase deficiency phosphoribosylformylglycineamidine_synthase_deficiency . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX19 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PET100 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD9 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Usher syndrome type 2C mondo_mondo_0011558_medgen_c2931213_omim_605472_orphanet_231178_orphanet_886 MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDXK Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy mondo_mondo_0032792_medgen_c5193137_omim_618511 MONDO:MONDO:0032792,MedGen:C5193137,OMIM:618511 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHB condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA1 PDHA1-related disorder pdha1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRA Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal mondo_mondo_0008285_medgen_c5193005_omim_175510 MONDO:MONDO:0008285,MedGen:C5193005,OMIM:175510 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C PDE6C-related disorder pde6c_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE4DIP condition not provided condition_not_provided . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE3B CYP2R1-related disorder cyp2r1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE3A condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE10A Striatal degeneration, autosomal dominant 2 mondo_mondo_0014835_medgen_c4310791_omim_616922 MONDO:MONDO:0014835,MedGen:C4310791,OMIM:616922 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Cerebral cavernous malformation human_phenotype_ontology_hp_0033522_mondo_mondo_0000820_medgen_c2919945_omim_116860_orphanet_221061 Human_Phenotype_Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860,Orphanet:221061 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK9 Homozygous familial hypercholesterolemia mondo_mondo_0018328_medgen_c0342881_orphanet_391665 MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:391665 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCK2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCK1 Phosphoenolpyruvate carboxykinase deficiency, cytosolic mondo_mondo_0009866_medgen_c5574905_omim_261680_orphanet_2880 MONDO:MONDO:0009866,MedGen:C5574905,OMIM:261680,Orphanet:2880 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Bilateral tonic-clonic seizure human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCCA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE PCARE-related disorder pcare_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBX3 X-linked cone-rod dystrophy mondo_mondo_0021155_medgen_cn323387 MONDO:MONDO:0021155,MedGen:CN323387 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBX1 PBX1-related disorder pbx1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX5 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Alveolar rhabdomyosarcoma human_phenotype_ontology_hp_0006779_mondo_mondo_0009994_medgen_c0206655_omim_268220_orphanet_780_orphanet_99756 Human_Phenotype_Ontology:HP:0006779,MONDO:MONDO:0009994,MedGen:C0206655,OMIM:268220,Orphanet:780,Orphanet:99756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAPPA2 Short stature, Dauber-Argente type mondo_mondo_0859182_medgen_c5561968_omim_619489 MONDO:MONDO:0859182,MedGen:C5561968,OMIM:619489 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAN2 PAN2-related multiple congenital anomalies syndrome pan2_related_multiple_congenital_anomalies_syndrome . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Malignant tumor of pancreas mondo_mondo_0009831_medgen_c0346647 MONDO:MONDO:0009831,MedGen:C0346647 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Inherited prostate cancer inherited_prostate_cancer . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Inherited ovarian cancer (without breast cancer) inherited_ovarian_cancer_without_breast_cancer . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK1 PAK1-related disorder pak1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAICS Phosphoribosylaminoimidazole carboxylase deficiency mondo_mondo_0859244_medgen_c1291561_omim_619859 MONDO:MONDO:0859244,MedGen:C1291561,OMIM:619859 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Pulmonary hypertension, primary, 1 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 Subcortical band heterotopia human_phenotype_ontology_hp_0032409_mondo_mondo_0020491_medgen_c1848201_orphanet_99796 Human_Phenotype_Ontology:HP:0032409,MONDO:MONDO:0020491,MedGen:C1848201,Orphanet:99796 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 PAFAH1B1-related disorder pafah1b1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACSIN3 Congenital myopathy 27 mondo_mondo_0979897_medgen_cn379927_omim_621343 MONDO:MONDO:0979897,MedGen:CN379927,OMIM:621343 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS1 Schuurs-Hoeijmakers syndrome mondo_mondo_0014006_medgen_c3554343_omim_615009_orphanet_329224 MONDO:MONDO:0014006,MedGen:C3554343,OMIM:615009,Orphanet:329224 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H1 P3H1-related disorder p3h1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H1 Osteogenesis imperfecta type III mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 Platelet-type bleeding disorder 8 mondo_mondo_0012354_medgen_c1853278_omim_609821_orphanet_36355 MONDO:MONDO:0012354,MedGen:C1853278,OMIM:609821,Orphanet:36355 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Long QT syndrome 9 mondo_mondo_0012736_medgen_c2678485_omim_611818_orphanet_101016_orphanet_768 MONDO:MONDO:0012736,MedGen:C2678485,OMIM:611818,Orphanet:101016,Orphanet:768 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Anophthalmia human_phenotype_ontology_hp_0000528_human_phenotype_ontology_hp_0001485_human_phenotype_ontology_hp_0007664_medgen_c0003119 Human_Phenotype_Ontology:HP:0000528,Human_Phenotype_Ontology:HP:0001485,Human_Phenotype_Ontology:HP:0007664,MedGen:C0003119 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTULIN condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTULIN Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection mondo_mondo_0031030_medgen_c5774192_omim_619986 MONDO:MONDO:0031030,MedGen:C5774192,OMIM:619986 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTC OTC-related disorder otc_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPTN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPN1LW Protan defect mondo_mondo_0010565_medgen_c0155015_omim_303900 MONDO:MONDO:0010565,MedGen:C0155015,OMIM:303900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPN1LW Cone monochromatism human_phenotype_ontology_hp_0007939_mondo_mondo_0010563_medgen_c0339537_omim_303700_orphanet_16 Human_Phenotype_Ontology:HP:0007939,MONDO:MONDO:0010563,MedGen:C0339537,OMIM:303700,Orphanet:16 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Optic neuropathy human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAPH ODAPH-related disorder odaph_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD1 ODAD1-related disorder odad1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL OCRL-related disorder ocrl_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 Albinism or congenital nystagmus albinism_or_congenital_nystagmus . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 Albinism human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NXN Robinow syndrome, autosomal recessive 2 mondo_mondo_0032800_medgen_c5193143_omim_618529 MONDO:MONDO:0032800,MedGen:C5193143,OMIM:618529 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUS1 NUS1-related disorder nus1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP93 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP88 Fetal akinesia deformation sequence 4 mondo_mondo_0100104_medgen_c4760578_omim_618393 MONDO:MONDO:0100104,MedGen:C4760578,OMIM:618393 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP54 Dystonia 37, early-onset, with striatal lesions mondo_mondo_0957385_medgen_c5830592_omim_620427 MONDO:MONDO:0957385,MedGen:C5830592,OMIM:620427 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP160 Nephrotic syndrome, type 19 mondo_mondo_0032582_medgen_c4748552_omim_618178 MONDO:MONDO:0032582,MedGen:C4748552,OMIM:618178 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP133 Nephrotic syndrome, type 18 mondo_mondo_0032581_medgen_c4748549_omim_618177 MONDO:MONDO:0032581,MedGen:C4748549,OMIM:618177 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 Galloway-Mowat syndrome 7 mondo_mondo_0032692_medgen_c5193044_omim_618348 MONDO:MONDO:0032692,MedGen:C5193044,OMIM:618348 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDT2 Intellectual developmental disorder with or without peripheral neuropathy mondo_mondo_0859240_medgen_c5676969_omim_619844_orphanet_694937 MONDO:MONDO:0859240,MedGen:C5676969,OMIM:619844,Orphanet:694937 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTN1 Mirror movements 4 mondo_mondo_0032641_medgen_c4748869_omim_618264 MONDO:MONDO:0032641,MedGen:C4748869,OMIM:618264 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTHL1 NTHL1-deficiency tumor predisposition syndrome mondo_mondo_0100502_medgen_cn315924 MONDO:MONDO:0100502,MedGen:CN315924 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5E Hereditary arterial and articular multiple calcification syndrome mondo_mondo_0008895_medgen_c1859372_omim_211800_orphanet_289601 MONDO:MONDO:0008895,MedGen:C1859372,OMIM:211800,Orphanet:289601 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5C2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN6 Intellectual developmental disorder, autosomal recessive 82 mondo_mondo_0968944_medgen_c5935601_omim_620779 MONDO:MONDO:0968944,MedGen:C5935601,OMIM:620779 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN3 Combined oxidative phosphorylation deficiency 48 mondo_mondo_0033566_medgen_c5436602_omim_619012 MONDO:MONDO:0033566,MedGen:C5436602,OMIM:619012 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN2 Phenylketonuria mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSMCE2 Seckel syndrome 10 mondo_mondo_0014991_medgen_c4310647_omim_617253 MONDO:MONDO:0014991,MedGen:C4310647,OMIM:617253 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSDHL CK syndrome mondo_mondo_0010441_medgen_c3151781_omim_300831_orphanet_251383 MONDO:MONDO:0010441,MedGen:C3151781,OMIM:300831,Orphanet:251383 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRL Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRL Enhanced S-cone syndrome 2 mondo_mondo_0700386_medgen_cn379999_omim_621371 MONDO:MONDO:0700386,MedGen:CN379999,OMIM:621371 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRIP1 Congenital anomalies of kidney and urinary tract 3 mondo_mondo_0032646_medgen_c4748921_omim_618270 MONDO:MONDO:0032646,MedGen:C4748921,OMIM:618270 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Large congenital melanocytic nevus human_phenotype_ontology_hp_0005600_human_phenotype_ontology_hp_0005604_mondo_mondo_0044792_medgen_c1842036_omim_137550_orphanet_626 Human_Phenotype_Ontology:HP:0005600,Human_Phenotype_Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Juvenile myelomonocytic leukemia human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Epidermal nevus human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C2 Pseudohyperaldosteronism type 2 mondo_mondo_0011517_medgen_c1854631_omim_605115_orphanet_88660 MONDO:MONDO:0011517,MedGen:C1854631,OMIM:605115,Orphanet:88660 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 46,xx sex reversal 5 mondo_mondo_0030049_medgen_c5394441_omim_618901 MONDO:MONDO:0030049,MedGen:C5394441,OMIM:618901 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR1H4 NR1H4-related disorder nr1h4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Monogenic short statue monogenic_short_statue . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Epilepsy, familial focal, with variable foci 2 mondo_mondo_0014924_medgen_c4310709_omim_617116 MONDO:MONDO:0014924,MedGen:C4310709,OMIM:617116 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Infantile Nephrotic syndrome infantile_nephrotic_syndrome . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Congenital nephrotic syndrome human_phenotype_ontology_hp_0008677_mondo_mondo_0002350_mesh_c535761_medgen_c3501848_omim_ps256300 Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Stroke disorder human_phenotype_ontology_hp_0001297_human_phenotype_ontology_hp_0002452_mondo_mondo_0005098_mesh_d020521_medgen_c0038454 Human_Phenotype_Ontology:HP:0001297,Human_Phenotype_Ontology:HP:0002452,MONDO:MONDO:0005098,MeSH:D020521,MedGen:C0038454 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Migraine with aura human_phenotype_ontology_hp_0002077_mondo_mondo_0005475_medgen_c0154723 Human_Phenotype_Ontology:HP:0002077,MONDO:MONDO:0005475,MedGen:C0154723 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOD2 Behcet disease mondo_mondo_0007191_medgen_c0004943_omim_109650_orphanet_117 MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOBOX condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP5 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP1 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome gene_107988031_mondo_mondo_0014089_medgen_c3808876_omim_615225_orphanet_352662 Gene:107988031,MONDO:MONDO:0014089,MedGen:C3808876,OMIM:615225,Orphanet:352662 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Ventricular septal defect 3 mondo_mondo_0013749_medgen_c3280785_omim_614432 MONDO:MONDO:0013749,MedGen:C3280785,OMIM:614432 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPSNAP3B Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL De Lange syndrome mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPAL4 Autosomal recessive congenital ichthyosis mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPA1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NICN1 Glycine encephalopathy 2 mondo_mondo_0958192_medgen_c5830559_omim_620398 MONDO:MONDO:0958192,MedGen:C5830559,OMIM:620398 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHS NHS-related disorder nhs_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHP2 Dyskeratosis congenita, autosomal recessive 2 mondo_mondo_0013519_medgen_c3151441_omim_613987_orphanet_1775 MONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987,Orphanet:1775 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHP2 Dyskeratosis congenita, autosomal recessive 1 mondo_mondo_0009136_medgen_c1857144_omim_224230_orphanet_1775 MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230,Orphanet:1775 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHLRC2 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGF Congenital sensory neuropathy with selective loss of small myelinated fibers mondo_mondo_0012092_medgen_c0020075_omim_608654_orphanet_64752 MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFU1 NFU1-related disorder nfu1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKBIA condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB2 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB1 NFKB1-related disorder nfkb1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Subcutaneous neurofibroma human_phenotype_ontology_hp_0100698_medgen_c1827970 Human_Phenotype_Ontology:HP:0100698,MedGen:C1827970 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion mondo_mondo_0018208_medgen_c5779636_orphanet_363700 MONDO:MONDO:0018208,MedGen:C5779636,Orphanet:363700 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Neurofibromatosis mondo_mondo_0021061_medgen_c0162678 MONDO:MONDO:0021061,MedGen:C0162678 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Inguinal freckling human_phenotype_ontology_hp_0030052_medgen_c1834297 Human_Phenotype_Ontology:HP:0030052,MedGen:C1834297 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Atypical coarctation of aorta mondo_mondo_0015446_medgen_c3496579_orphanet_1456 MONDO:MONDO:0015446,MedGen:C3496579,Orphanet:1456 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXMIF Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROD2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK9 Arthrogryposis, Perthes disease, and upward gaze palsy mondo_mondo_0013660_medgen_c3280309_omim_614262 MONDO:MONDO:0013660,MedGen:C3280309,OMIM:614262 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 Motor neuron disease mondo_mondo_0020128_medgen_c0085084_orphanet_98503 MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Charcot-Marie-Tooth disease, dominant intermediate G mondo_mondo_0036484_medgen_c4693509_omim_617882 MONDO:MONDO:0036484,MedGen:C4693509,OMIM:617882 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEDD4L condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEDD4L Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay periventricular_nodular_heterotopia_with_syndactyly_cleft_palate_and_developmental_delay . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NECTIN4 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS7 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFC1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB3 Mitochondrial complex I deficiency, nuclear type 25 mondo_mondo_0032629_medgen_c4748806_omim_618246 MONDO:MONDO:0032629,MedGen:C4748806,OMIM:618246 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB11 Mitochondrial complex I deficiency, nuclear type 30 mondo_mondo_0026721_medgen_c4746985_omim_301021 MONDO:MONDO:0026721,MedGen:C4746985,OMIM:301021 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 Cockayne syndrome type 1 mondo_mondo_0019569_medgen_c0751039_omim_216400_orphanet_191_orphanet_90321 MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400,Orphanet:191,Orphanet:90321 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA8 Mitochondrial complex I deficiency, nuclear type 37 mondo_mondo_0030997_medgen_c5543281_omim_619272 MONDO:MONDO:0030997,MedGen:C5543281,OMIM:619272 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA2 Mitochondrial complex I deficiency, nuclear type 13 mondo_mondo_0032618_medgen_c4748770_omim_618235 MONDO:MONDO:0032618,MedGen:C4748770,OMIM:618235 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA13 Hurthle cell carcinoma of thyroid mondo_mondo_0011836_medgen_c0749424_omim_607464_orphanet_146 MONDO:MONDO:0011836,MedGen:C0749424,OMIM:607464,Orphanet:146 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA11 Mitochondrial complex I deficiency, nuclear type 14 mondo_mondo_0032619_medgen_c4748777_omim_618236 MONDO:MONDO:0032619,MedGen:C4748777,OMIM:618236 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA10 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPD2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPD2 Microcephaly 21, primary, autosomal recessive mondo_mondo_0054804_medgen_c4693831_omim_617983 MONDO:MONDO:0054804,MedGen:C4693831,OMIM:617983 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEAL2 NBEAL2-related disorder nbeal2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Infantile liver failure mondo_mondo_0000023_medgen_c5681094_omim_ps615438_orphanet_464724 MONDO:MONDO:0000023,MedGen:C5681094,OMIM:PS615438,Orphanet:464724 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAXD condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAV3 Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities mondo_mondo_0976285_medgen_c6012716_omim_621182 MONDO:MONDO:0976285,MedGen:C6012716,OMIM:621182 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAPB Developmental and epileptic encephalopathy-107 mondo_mondo_0031055_medgen_c5774215_omim_620033 MONDO:MONDO:0031055,MedGen:C5774215,OMIM:620033 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Mucopolysaccharidosistype IIIB mucopolysaccharidosistype_iiib . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAF1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAE1 Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia mondo_mondo_0859361_medgen_c5774298_omim_620210 MONDO:MONDO:0859361,MedGen:C5774298,OMIM:620210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Nanophthalmos 1 mondo_mondo_0010836_medgen_c1838502_omim_600165_orphanet_35612 MONDO:MONDO:0010836,MedGen:C1838502,OMIM:600165,Orphanet:35612 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Encephalitis/encephalopathy, mild, with reversible myelin vacuolization mondo_mondo_0020853_medgen_c4722446_omim_618113 MONDO:MONDO:0020853,MedGen:C4722446,OMIM:618113 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYORG MYORG-related disorder myorg_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Usher syndrome type 2 mondo_mondo_0016484_medgen_c0339534_orphanet_231178 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Meniere disease mondo_mondo_0007972_medgen_c0025281_omim_156000 MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Monogenic hearing loss monogenic_hearing_loss . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5B MYO5B-related disorder myo5b_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO3A Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO3A Hearing loss, autosomal dominant 90 mondo_mondo_0958232_medgen_c5935579_omim_620722 MONDO:MONDO:0958232,MedGen:C5935579,OMIM:620722 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYMX Carey-Fineman-Ziter syndrome 2 mondo_mondo_0100292_medgen_c5677012_omim_619941 MONDO:MONDO:0100292,MedGen:C5677012,OMIM:619941 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYMK Carey-Fineman-Ziter syndrome 1 mondo_mondo_0800437_medgen_c5676876_omim_254940 MONDO:MONDO:0800437,MedGen:C5676876,OMIM:254940 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL3 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Restrictive cardiomyopathy human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYCN MYCN-related disorder mycn_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYC Burkitt lymphoma human_phenotype_ontology_hp_0030080_mondo_mondo_0007243_medgen_c0006413_omim_113970_orphanet_543 Human_Phenotype_Ontology:HP:0030080,MONDO:MONDO:0007243,MedGen:C0006413,OMIM:113970,Orphanet:543 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 MYBPC3-related cardiomyopathies mybpc3_related_cardiomyopathies . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MXI1 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Colon cancer human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Mitochondrial complex I deficiency, nuclear type 27 mondo_mondo_0032631_medgen_c4748826_omim_618248 MONDO:MONDO:0032631,MedGen:C4748826,OMIM:618248 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX2 Parietal foramina with cleidocranial dysplasia mondo_mondo_0008198_medgen_c1868597_omim_168550_orphanet_251290 MONDO:MONDO:0008198,MedGen:C1868597,OMIM:168550,Orphanet:251290 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX2 Cranium bifidum occultum human_phenotype_ontology_hp_0004423_medgen_c1868598 Human_Phenotype_Ontology:HP:0004423,MedGen:C1868598 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX1 MSX1-related disorder msx1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSTO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSMO1 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome mondo_mondo_0014793_medgen_c5567510_omim_616834_orphanet_488168 MONDO:MONDO:0014793,MedGen:C5567510,OMIM:616834,Orphanet:488168 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Papillary carcinoma of the corpus uteri mondo_mondo_0016268_medgen_c5679804_orphanet_213726 MONDO:MONDO:0016268,MedGen:C5679804,Orphanet:213726 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH5 Spermatogenic failure 74 mondo_mondo_0030972_medgen_c5677010_omim_619937 MONDO:MONDO:0030972,MedGen:C5677010,OMIM:619937 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH5 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH4 Premature ovarian failure 20 mondo_mondo_0030975_medgen_c5677011_omim_619938 MONDO:MONDO:0030975,MedGen:C5677011,OMIM:619938 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRTFB MRTFB-related disorder mrtfb_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS2 Combined oxidative phosphorylation deficiency 36 mondo_mondo_0054781_medgen_c4693722_omim_617950 MONDO:MONDO:0054781,MedGen:C4693722,OMIM:617950 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL44 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency mondo_mondo_0014162_medgen_c3809339_omim_615395_orphanet_352563 MONDO:MONDO:0014162,MedGen:C3809339,OMIM:615395,Orphanet:352563 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL39 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL39 Combined oxidative phosphorylation deficiency 59 mondo_mondo_0957992_medgen_c5882730_omim_620646 MONDO:MONDO:0957992,MedGen:C5882730,OMIM:620646 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL3 Combined oxidative phosphorylation defect type 9 mondo_mondo_0013811_medgen_c4706315_omim_614582_orphanet_319509 MONDO:MONDO:0013811,MedGen:C4706315,OMIM:614582,Orphanet:319509 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRAS Noonan syndrome 11 mondo_mondo_0032786_medgen_c5193130_omim_618499 MONDO:MONDO:0032786,MedGen:C5193130,OMIM:618499 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRAP Glucocorticoid deficiency 1 mondo_mondo_0024536_medgen_c4049650_omim_202200_orphanet_361 MONDO:MONDO:0024536,MedGen:C4049650,OMIM:202200,Orphanet:361 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPIG6B condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPI condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPDZ Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 MORC2-related disorder morc2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNS1 MNS1-related disorder mns1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT METHYLMALONIC ACIDURIA, mut(-) TYPE medgen_c1855116 MedGen:C1855116 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT Likely inborn error of metabolism likely_inborn_error_of_metabolism . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP9 Metaphyseal anadysplasia 2 mondo_mondo_0013113_medgen_c2751322_omim_613073_orphanet_1040 MONDO:MONDO:0013113,MedGen:C2751322,OMIM:613073,Orphanet:1040 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP21 MMP21-related disorder mmp21_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME MME-related disorder mme_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMADHC Isolated methylmalonic aciduria cblD type mondo_mondo_0700298_medgen_cn378546_omim_620953 MONDO:MONDO:0700298,MedGen:CN378546,OMIM:620953 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMADHC Homocystinuria-megaloblastic anemia cblD type mondo_mondo_0700297_medgen_c1848553_omim_620952 MONDO:MONDO:0700297,MedGen:C1848553,OMIM:620952 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Waardenburg syndrome mondo_mondo_0018094_medgen_c3266898_omim_ps193500_orphanet_3440 MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIP MIP-related disorder mip_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIP Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINAR2 Hearing loss, autosomal recessive 120 mondo_mondo_0859374_medgen_c5774309_omim_620238 MONDO:MONDO:0859374,MedGen:C5774309,OMIM:620238 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGAT2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGA Premature ovarian failure 26 mondo_mondo_0976129_medgen_c5975591_omim_621065 MONDO:MONDO:0976129,MedGen:C5975591,OMIM:621065 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFRP Late-onset retinal degeneration mondo_mondo_0011579_medgen_c1854065_omim_605670_orphanet_67042 MONDO:MONDO:0011579,MedGen:C1854065,OMIM:605670,Orphanet:67042 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFF condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Familial hyperparathyroidism or Hypocalciuric hypercalcaemia familial_hyperparathyroidism_or_hypocalciuric_hypercalcaemia . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIOB condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF8 Carpenter syndrome mondo_mondo_0019012_medgen_c1275078_omim_ps201000_orphanet_65759 MONDO:MONDO:0019012,MedGen:C1275078,OMIM:PS201000,Orphanet:65759 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED27 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia mondo_mondo_0859137_medgen_c5543306_omim_619286 MONDO:MONDO:0859137,MedGen:C5543306,OMIM:619286 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED25 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED25 Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome mondo_mondo_0014643_medgen_c4225323_omim_616449_orphanet_464738 MONDO:MONDO:0014643,MedGen:C4225323,OMIM:616449,Orphanet:464738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED23 ARG1-related disorder arg1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L MED13L-related neurodevelopmental disorder med13l_related_neurodevelopmental_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 MED13-related disorder med13_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 Autosomal dominant isolated somatotropin deficiency mondo_mondo_0008250_medgen_c0271567_omim_173100_orphanet_231679_orphanet_631 MONDO:MONDO:0008250,MedGen:C0271567,OMIM:173100,Orphanet:231679,Orphanet:631 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L Platelet-type bleeding disorder 8 mondo_mondo_0012354_medgen_c1853278_omim_609821_orphanet_36355 MONDO:MONDO:0012354,MedGen:C1853278,OMIM:609821,Orphanet:36355 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Nonspecific Intellectual Disability nonspecific_intellectual_disability . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM Dyskeratosis congenita, autosomal dominant 1 mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDH2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDC1 Oligoasthenoteratozoospermia mondo_mondo_0850098_medgen_cn372097 MONDO:MONDO:0850098,MedGen:CN372097 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCTS1 Immunodeficiency 118 mondo_mondo_0958030_medgen_c5882665_omim_301115 MONDO:MONDO:0958030,MedGen:C5882665,OMIM:301115 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R Obesity, autosomal dominant obesity_autosomal_dominant MedGen:CN233047 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBOAT7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD4 Melanoma, uveal, susceptibility to, 1 mondo_mondo_0011695_medgen_c1847724_omim_606660_orphanet_39044 MONDO:MONDO:0011695,MedGen:C1847724,OMIM:606660,Orphanet:39044 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN3 Spondyloepimetaphyseal dysplasia, matrilin-3 type mondo_mondo_0012108_medgen_c1837481_omim_608728_orphanet_156728 MONDO:MONDO:0012108,MedGen:C1837481,OMIM:608728,Orphanet:156728 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARVELD2 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARS2 Spastic ataxia 3 mondo_mondo_0012664_medgen_c1969645_omim_611390_orphanet_314603 MONDO:MONDO:0012664,MedGen:C1969645,OMIM:611390,Orphanet:314603 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARS1 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency mondo_mondo_0014206_medgen_c4225400_omim_615486_orphanet_440427 MONDO:MONDO:0014206,MedGen:C4225400,OMIM:615486,Orphanet:440427 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT MAPT-related disorder mapt_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK7 Scoliosis, isolated, susceptibility to, 1 mondo_mondo_0008419_medgen_c2700406_omim_181800 MONDO:MONDO:0008419,MedGen:C2700406,OMIM:181800 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K20 Split-foot malformation-mesoaxial polydactyly syndrome mondo_mondo_0014816_medgen_c5567487_omim_616890_orphanet_488232 MONDO:MONDO:0014816,MedGen:C5567487,OMIM:616890,Orphanet:488232 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K20 Myopathy, centronuclear, 6, with fiber-type disproportion mondo_mondo_0054695_medgen_c4540345_omim_617760 MONDO:MONDO:0054695,MedGen:C4540345,OMIM:617760 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 MAP2K1-related disorder map2k1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B White matter deficit white_matter_deficit . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Hearing loss, autosomal dominant 83 mondo_mondo_0030723_medgen_c5676951_omim_619808 MONDO:MONDO:0030723,MedGen:C5676951,OMIM:619808 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Cognitive impairment human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAOA condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MANF Diabetes, deafness, developmental delay, and short stature syndrome mondo_mondo_0957997_medgen_c5882732_omim_620651 MONDO:MONDO:0957997,MedGen:C5882732,OMIM:620651 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN1B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAMLD1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MALT1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB Duane syndrome type 1 mondo_mondo_0024265_medgen_c0994516_omim_126800_orphanet_233 MONDO:MONDO:0024265,MedGen:C0994516,OMIM:126800,Orphanet:233 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB Duane retraction syndrome 2 mondo_mondo_0011444_medgen_c0751083_omim_604356_orphanet_233 MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356,Orphanet:233 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MADD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAD1L1 Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mondo_mondo_0859346_medgen_c5774284_omim_620189 MONDO:MONDO:0859346,MedGen:C5774284,OMIM:620189 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Pigmentary skin disorders pigmentary_skin_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYN LYN kinase associated vasculopathy and liver fibrosis syndrome lyn_kinase_associated_vasculopathy_and_liver_fibrosis_syndrome . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP4 LTBP4-related disorder ltbp4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Weill-Marchesani syndrome 3 mondo_mondo_0013899_medgen_c3553785_omim_614819_orphanet_3449 MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orphanet:3449 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Glaucoma 3A mondo_mondo_0009277_medgen_c1856439_omim_231300_orphanet_98976_orphanet_98977 MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC32 Cleft palate, proliferative retinopathy, and developmental delay mondo_mondo_0033641_medgen_c5436739_omim_619074 MONDO:MONDO:0033641,MedGen:C5436739,OMIM:619074 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Oligodontia human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Osteoporosis human_phenotype_ontology_hp_0000939_human_phenotype_ontology_hp_0002774_mondo_mondo_0005298_medgen_c0029456_omim_166710 Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Exudative vitreoretinopathy 4, autosomal dominant medgen_c4016838 MedGen:C4016838 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP2 LRP2-related disorder lrp2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRMDA Oculocutaneous albinism type 7 mondo_mondo_0014070_medgen_c3808786_omim_615179_orphanet_352745 MONDO:MONDO:0014070,MedGen:C3808786,OMIM:615179,Orphanet:352745 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRIT3 Congenital stationary night blindness 1F mondo_mondo_0014026_medgen_c3554399_omim_615058_orphanet_215 MONDO:MONDO:0014026,MedGen:C3554399,OMIM:615058,Orphanet:215 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRBA LRBA deficiency lrba_deficiency . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPAR6 Wooly hair, autosomal recessive 1, with or without hypotrichosis mondo_mondo_0800312_medgen_c1848435 MONDO:MONDO:0800312,MedGen:C1848435 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXL3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXL3 Myopia 28, autosomal recessive mondo_mondo_0030697_medgen_c5676935_omim_619781 MONDO:MONDO:0030697,MedGen:C5676935,OMIM:619781 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 Deafness medgen_c0011053 MedGen:C0011053 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LORICRIN condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LONP1 LONP1-related disorder lonp1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMOD1 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 mondo_mondo_0030294_medgen_c5543513_omim_619362 MONDO:MONDO:0030294,MedGen:C5543513,OMIM:619362 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB2 Microcephaly 27, primary, autosomal dominant mondo_mondo_0030929_medgen_c5543051_omim_619180 MONDO:MONDO:0030929,MedGen:C5543051,OMIM:619180 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Hutchinson-Gilford progeria syndrome, childhood-onset medgen_c2750285 MedGen:C2750285 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Hutchinson-Gilford progeria syndrome, atypical medgen_c4016241 MedGen:C4016241 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Congenital muscular dystrophy human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LITAF Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPE LIPE-related familial partial lipodystrophy mondo_mondo_0014431_medgen_c4014869_omim_615980_orphanet_435660 MONDO:MONDO:0014431,MedGen:C4014869,OMIM:615980,Orphanet:435660 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LINS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIMS2 Autosomal recessive limb-girdle muscular dystrophy type 2W mondo_mondo_0014788_medgen_c4225192_omim_616827 MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIM2 Cataract 19 multiple types mondo_mondo_0014111_medgen_c3809004_omim_615277_orphanet_91492 MONDO:MONDO:0014111,MedGen:C3809004,OMIM:615277,Orphanet:91492 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG4 prenatal LIG4 syndrome with aqueductal stenosis prenatal_lig4_syndrome_with_aqueductal_stenosis . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG1 Immunodeficiency 96 mondo_mondo_0030693_medgen_c5676930_omim_619774 MONDO:MONDO:0030693,MedGen:C5676930,OMIM:619774 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX3 Combined pituitary hormone deficiencies, genetic form mondo_mondo_0013099_medgen_c4273747_omim_ps613038_orphanet_95494 MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038,Orphanet:95494 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Leydig cell hypoplasia, type II medgen_c2673497 MedGen:C2673497 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEP condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEP Leptin dysfunction medgen_c4016279 MedGen:C4016279 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LENG1 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies mondo_mondo_0032864_medgen_c5231456_omim_618672 MONDO:MONDO:0032864,MedGen:C5231456,OMIM:618672 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 LEMD3-related disorder lemd3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLRAD2 Schwartz-Jampel syndrome type 1 mondo_mondo_0100435_medgen_c4551479_omim_255800 MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 Cardiomyopathy, dilated, 2l mondo_mondo_0979236_medgen_c6012739_omim_621237 MONDO:MONDO:0979236,MedGen:C6012739,OMIM:621237 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCT LCT-related disorder lct_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR Regressive spondylometaphyseal dysplasia mondo_mondo_0018663_medgen_c4747922_omim_618019_orphanet_448267 MONDO:MONDO:0018663,MedGen:C4747922,OMIM:618019,Orphanet:448267 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR LBR-related disorder lbr_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAT Severe combined immunodeficiency due to LAT deficiency mondo_mondo_0044721_medgen_c4479588_omim_617514_orphanet_504523 MONDO:MONDO:0044721,MedGen:C4479588,OMIM:617514,Orphanet:504523 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAS1L condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARP7 LARP7-related disorder larp7_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC2 LAMC2-related disorder lamc2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB1 Leukoencephalopathy without lacunae, adult-onset mondo_mondo_0980752_medgen_cn380416_omim_621424 MONDO:MONDO:0980752,MedGen:CN380416,OMIM:621424 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 Junctional epidermolysis bullosa, non-Herlitz type mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAGE3 Galloway-Mowat syndrome 2, X-linked mondo_mondo_0033006_medgen_c4538784_omim_301006 MONDO:MONDO:0033006,MedGen:C4538784,OMIM:301006 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KYNU Catel-Manzke syndrome mondo_mondo_0014507_medgen_c1844887_omim_616145_orphanet_1388 MONDO:MONDO:0014507,MedGen:C1844887,OMIM:616145,Orphanet:1388 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KSR2 KSR2-related disorder ksr2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRTCAP3 IFT172-related disorder ift172_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT74 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT6C condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive mondo_mondo_0030535_medgen_c5562014_omim_619599 MONDO:MONDO:0030535,MedGen:C5562014,OMIM:619599 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT4 White sponge nevus 1 mondo_mondo_0008676_medgen_c4011926_omim_193900 MONDO:MONDO:0008676,MedGen:C4011926,OMIM:193900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 KRT14-related disorder krt14_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 KRT10-related disorder krt10_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Epidermolytic ichthyosis human_phenotype_ontology_hp_0007475_mondo_mondo_0007239_medgen_c0079153_omim_ps113800_orphanet_312 Human_Phenotype_Ontology:HP:0007475,MONDO:MONDO:0007239,MedGen:C0079153,OMIM:PS113800,Orphanet:312 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Epidermolytic hyperkeratosis 1 mondo_mondo_0700249_medgen_c5781874_omim_113800 MONDO:MONDO:0700249,MedGen:C5781874,OMIM:113800 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Annular epidermolytic ichthyosis mondo_mondo_0011870_medgen_c1843463_omim_ps607602_orphanet_281139 MONDO:MONDO:0011870,MedGen:C1843463,OMIM:PS607602,Orphanet:281139 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Ichthyosis, annular epidermolytic, 2 mondo_mondo_0859574_medgen_c5774264_omim_620148 MONDO:MONDO:0859574,MedGen:C5774264,OMIM:620148 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Toriello-Lacassie-Droste syndrome mondo_mondo_0010854_medgen_c1838329_omim_600268_orphanet_3339 MONDO:MONDO:0010854,MedGen:C1838329,OMIM:600268,Orphanet:3339 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS OCULOECTODERMAL SYNDROME, SOMATIC oculoectodermal_syndrome_somatic . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Nevus sebaceous human_phenotype_ontology_hp_0010815_medgen_c3854181 Human_Phenotype_Ontology:HP:0010815,MedGen:C3854181 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E KMT2E-related disorder kmt2e_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Ulnar deviation of the wrist human_phenotype_ontology_hp_0003049_medgen_c0231678 Human_Phenotype_Ontology:HP:0003049,MedGen:C0231678 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Cold-induced sweating syndrome 1 mondo_mondo_0010091_medgen_c1848947_omim_272430_orphanet_1545_orphanet_157820 MONDO:MONDO:0010091,MedGen:C1848947,OMIM:272430,Orphanet:1545,Orphanet:157820 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIZ Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KITLG Waardenburg syndrome, IIa 2F mondo_mondo_0030983_medgen_c5677013_omim_619947 MONDO:MONDO:0030983,MedGen:C5677013,OMIM:619947 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Gastrointestinal stromal tumor, familial medgen_c2674636 MedGen:C2674636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Cutaneous mastocytosis human_phenotype_ontology_hp_0200151_mondo_mondo_0019023_medgen_c1136033_omim_154800_orphanet_66646 Human_Phenotype_Ontology:HP:0200151,MONDO:MONDO:0019023,MedGen:C1136033,OMIM:154800,Orphanet:66646 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Spastic Paraglegia 10 spastic_paraglegia_10 . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF23 Congenital dyserythropoietic anemia, type III mondo_mondo_0007109_medgen_c5676874_omim_105600_orphanet_98870 MONDO:MONDO:0007109,MedGen:C5676874,OMIM:105600,Orphanet:98870 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF21A KIF21A-related disorder kif21a_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF21A Fibrosis of extraocular muscles, congenital, 3b mondo_mondo_0800209_medgen_c2751105 MONDO:MONDO:0800209,MedGen:C2751105 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A PEHO syndrome mondo_mondo_0009841_medgen_c1850055_omim_260565_orphanet_2836_orphanet_99807 MONDO:MONDO:0009841,MedGen:C1850055,OMIM:260565,Orphanet:2836,Orphanet:99807 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIDINS220 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0825 Postaxial polydactyly human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0753 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0753 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNU1 Spermatogenic failure 79 mondo_mondo_0859352_medgen_c5774290_omim_620196 MONDO:MONDO:0859352,MedGen:C5774290,OMIM:620196 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Malignant migrating partial seizures of infancy mondo_mondo_0017385_medgen_cn262433_orphanet_293181 MONDO:MONDO:0017385,MedGen:CN262433,Orphanet:293181 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ4 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Long QT syndrome 1/2, digenic medgen_c3277700 MedGen:C3277700 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN4 Dehydrated hereditary stomatocytosis 2 mondo_mondo_0014737_medgen_c4225242_omim_616689_orphanet_3202 MONDO:MONDO:0014737,MedGen:C4225242,OMIM:616689,Orphanet:3202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK9 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ6 Keppen-Lubinsky syndrome mondo_mondo_0013572_medgen_c3279800_omim_614098_orphanet_435628 MONDO:MONDO:0013572,MedGen:C3279800,OMIM:614098,Orphanet:435628 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ5 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ5 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Transitory neonatal diabetes mellitus human_phenotype_ontology_hp_0008255_mondo_mondo_0020525_medgen_c0342273 Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Permanent neonatal diabetes mellitus 1 mondo_mondo_0100165_medgen_c5393570_omim_606176 MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 KCNJ11-related disorder kcnj11_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 Pendred syndrome mondo_mondo_0010134_medgen_c0271829_omim_274600_orphanet_705 MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Short QT syndrome mondo_mondo_0000453_medgen_c2348199_omim_ps609620_orphanet_51083 MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 KCNH1-related disorder kcnh1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 developmental encephalopathy with epilepsy developmental_encephalopathy_with_epilepsy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 KCNB1-related disorder kcnb1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA5 Atrial fibrillation, familial, 7 mondo_mondo_0012828_medgen_c2677106_omim_612240 MONDO:MONDO:0012828,MedGen:C2677106,OMIM:612240 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA1 Myokymia 1 medgen_c2674766 MedGen:C2674766 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KBTBD13 Nemaline myopathy 6 mondo_mondo_0012237_medgen_c1836472_omim_609273_orphanet_171439 MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNIP KATNIP-related disorder katnip_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT8 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Autosomal dominant KAT6B-related disorders autosomal_dominant_kat6b_related_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KASH5 Premature ovarian failure 22 mondo_mondo_0957822_medgen_c5882707_omim_620548 MONDO:MONDO:0957822,MedGen:C5882707,OMIM:620548 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Deafness, congenital, and adult-onset progressive leukoencephalopathy mondo_mondo_0030967_medgen_c5543087_omim_619196 MONDO:MONDO:0030967,MedGen:C5543087,OMIM:619196 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Charcot-Marie-Tooth disease recessive intermediate B mondo_mondo_0013338_medgen_c3150897_omim_613641_orphanet_254334 MONDO:MONDO:0013338,MedGen:C3150897,OMIM:613641,Orphanet:254334 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 KANSL1-related disorder kansl1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Thrombocythemia 3 mondo_mondo_0013794_medgen_c3281125_omim_614521 MONDO:MONDO:0013794,MedGen:C3281125,OMIM:614521 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK1 Autoinflammation, immune dysregulation, and eosinophilia mondo_mondo_0033558_medgen_c5436572_omim_618999 MONDO:MONDO:0033558,MedGen:C5436572,OMIM:618999 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR3 Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy mondo_mondo_0979570_medgen_c6012744_omim_621254 MONDO:MONDO:0979570,MedGen:C6012744,OMIM:621254 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPA condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITK condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 ITGB4-related disorder itgb4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 Epidermolysis bullosa simplex 1C, localized mondo_mondo_0007551_medgen_c0080333_omim_131800_orphanet_79400 MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRS4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRS4 Hypothyroidism, congenital, nongoitrous, 9 mondo_mondo_0026732_medgen_c5231396_omim_301035 MONDO:MONDO:0026732,MedGen:C5231396,OMIM:301035 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Van der Woude syndrome mondo_mondo_0019508_medgen_c0175697_omim_ps119300_orphanet_888 MONDO:MONDO:0019508,MedGen:C0175697,OMIM:PS119300,Orphanet:888 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF4 Immunodeficiency 131 mondo_mondo_0976229_medgen_c6012696_omim_621097 MONDO:MONDO:0976229,MedGen:C6012696,OMIM:621097 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BP2 Immunodeficiency, common variable, 14 mondo_mondo_0054691_medgen_c4540380_omim_617765_orphanet_696904 MONDO:MONDO:0054691,MedGen:C4540380,OMIM:617765,Orphanet:696904 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 Renal dysplasia and retinal aplasia mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTS8 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity mondo_mondo_0032818_medgen_c5231415_omim_618572 MONDO:MONDO:0032818,MedGen:C5231415,OMIM:618572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Thrombocythemia 3 mondo_mondo_0013794_medgen_c3281125_omim_614521 MONDO:MONDO:0013794,MedGen:C3281125,OMIM:614521 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Neonatal insulin-dependent diabetes mellitus human_phenotype_ontology_hp_0000857_medgen_c3278636 Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ING1 Squamous cell carcinoma of the head and neck mondo_mondo_0010150_mesh_d000077195_medgen_c1168401_omim_275355_orphanet_67037 MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 INF2-related disorder inf2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPDH1 Leber congenital amaurosis 11 mondo_mondo_0013454_medgen_c1840284_omim_613837_orphanet_65 MONDO:MONDO:0013454,MedGen:C1840284,OMIM:613837,Orphanet:65 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 ILDR1-related disorder ildr1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7 Epidermodysplasia verruciformis, susceptibility to, 5 mondo_mondo_0032667_medgen_c4749043_omim_618309 MONDO:MONDO:0032667,MedGen:C4749043,OMIM:618309 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6ST Hyper-IgE recurrent infection syndrome 4, autosomal recessive mondo_mondo_0032796_medgen_c5193141_omim_618523 MONDO:MONDO:0032796,MedGen:C5193141,OMIM:618523 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL11RA IL11RA-related disorder il11ra_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKZF1 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Autoinflammatory disease, X-linked mondo_mondo_0800129_medgen_c5676885_omim_301081_orphanet_699605 MONDO:MONDO:0800129,MedGen:C5676885,OMIM:301081,Orphanet:699605 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKB condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKB Immunodeficiency 15a mondo_mondo_0032599_medgen_c4748694_omim_618204_orphanet_700205 MONDO:MONDO:0032599,MedGen:C4748694,OMIM:618204,Orphanet:700205 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKB IKBKB-related disorder ikbkb_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IHH Brachydactyly type A1A mondo_mondo_0020701_medgen_cn295859 MONDO:MONDO:0020701,MedGen:CN295859 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGFALS condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGFALS Monogenic short statue monogenic_short_statue . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2R Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2 Silver-Russell syndrome 1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT122 IFT122-related disorder ift122_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFITM5 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFITM5 Osteogenesis imperfecta type 5 mondo_mondo_0012591_medgen_c2931093_omim_610967_orphanet_216828 MONDO:MONDO:0012591,MedGen:C2931093,OMIM:610967,Orphanet:216828 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Immunodeficiency 95 mondo_mondo_0030692_medgen_c5676929_omim_619773 MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH2 D-2-hydroxyglutaric aciduria 2 mondo_mondo_0013345_medgen_c3150909_omim_613657_orphanet_79315 MONDO:MONDO:0013345,MedGen:C3150909,OMIM:613657,Orphanet:79315 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 Enchondromatosis human_phenotype_ontology_hp_0005701_mondo_mondo_0008145_medgen_c0014084_omim_166000_orphanet_296 Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYCC1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 HTRA1-related cerebral small vessel disease medgen_c5680099_orphanet_482072 MedGen:C5680099,Orphanet:482072 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPG2 HSPG2-related disorder hspg2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPD1 Hypomyelinating leukodystrophy 4 mondo_mondo_0012824_medgen_c2677109_omim_612233_orphanet_280270_orphanet_280288 MONDO:MONDO:0012824,MedGen:C2677109,OMIM:612233,Orphanet:280270,Orphanet:280288 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 HSPB1-related disorder hspb1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPA9 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSF4 HSF4-related disorder hsf4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B2 HSD3B2-related disorder hsd3b2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HROB Ovarian dysgenesis 11 mondo_mondo_0971176_medgen_c5935637_omim_620897 MONDO:MONDO:0971176,MedGen:C5935637,OMIM:620897 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS5 HPS5-related disorder hps5_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB1 Facial paresis, hereditary congenital, 3 mondo_mondo_0013880_medgen_c3553625_omim_614744_orphanet_306530 MONDO:MONDO:0013880,MedGen:C3553625,OMIM:614744,Orphanet:306530 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA13 Guttmacher syndrome mondo_mondo_0008301_medgen_c1867801_omim_176305_orphanet_2957 MONDO:MONDO:0008301,MedGen:C1867801,OMIM:176305,Orphanet:2957 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA1 Human HOXA1 syndromes mondo_mondo_0011099_medgen_c1832215_omim_601536_orphanet_69737_orphanet_69739 MONDO:MONDO:0011099,MedGen:C1832215,OMIM:601536,Orphanet:69737,Orphanet:69739 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA1 Bosley-Salih-Alorainy syndrome mondo_mondo_0019075_medgen_c1832216_orphanet_69737 MONDO:MONDO:0019075,MedGen:C1832216,Orphanet:69737 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPR condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPK HNRNPK-related disorder hnrnpk_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA2B1 Oculopharyngeal muscular dystrophy 2 mondo_mondo_0958195_medgen_c5830682_omim_620460 MONDO:MONDO:0958195,MedGen:C5830682,OMIM:620460 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Hyperechogenic kidneys human_phenotype_ontology_hp_0004719_medgen_c3275899 Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Leukoencephalopathy, porphyria-related mondo_mondo_0958226_medgen_c5935575_omim_620711 MONDO:MONDO:0958226,MedGen:C5935575,OMIM:620711 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HKDC1 Retinitis pigmentosa 92 mondo_mondo_0030619_medgen_c5562022_omim_619614 MONDO:MONDO:0030619,MedGen:C5562022,OMIM:619614 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIVEP2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HINT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIKESHI Hypomyelinating leukodystrophy 13 mondo_mondo_0014813_medgen_c4225170_omim_616881 MONDO:MONDO:0014813,MedGen:C4225170,OMIM:616881 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIF1A Enchondromatosis human_phenotype_ontology_hp_0005701_mondo_mondo_0008145_medgen_c0014084_omim_166000_orphanet_296 Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HID1 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIBCH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HHAT Chondrodysplasia-pseudohermaphroditism syndrome mondo_mondo_0010814_medgen_c1838654_omim_600092_orphanet_1422 MONDO:MONDO:0010814,MedGen:C1838654,OMIM:600092,Orphanet:1422 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGF Autosomal recessive nonsyndromic hearing loss 39 mondo_mondo_0012003_medgen_c1842342_omim_608265_orphanet_90636 MONDO:MONDO:0012003,MedGen:C1842342,OMIM:608265,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE Alzheimer disease type 1 mondo_mondo_0007088_medgen_c1863052_omim_104300 MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXB Sandhoff disease, adult form mondo_mondo_0017723_medgen_c0751489_orphanet_309169 MONDO:MONDO:0017723,MedGen:C0751489,Orphanet:309169 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HESX1 PITUITARY HORMONE DEFICIENCY, COMBINED, 5 pituitary_hormone_deficiency_combined_5 MedGen:CN042968 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES medgen_c1856895_omim_227220 MedGen:C1856895,OMIM:227220 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEATR3 Diamond-Blackfan anemia 1 mondo_mondo_0007110_medgen_c2676137_omim_105650_orphanet_124 MONDO:MONDO:0007110,MedGen:C2676137,OMIM:105650,Orphanet:124 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDC Tourette syndrome mondo_mondo_0007661_medgen_c0040517_omim_137580 MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Cornelia de Lange syndrome 1 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC6 X-linked dominant chondrodysplasia, Chassaing-Lacombe type mondo_mondo_0010463_medgen_c3275476_omim_300863_orphanet_163966 MONDO:MONDO:0010463,MedGen:C3275476,OMIM:300863,Orphanet:163966 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN4 HCN4-related disorder hcn4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD Hemoglobin Lepore trait medgen_c0472769 MedGen:C0472769 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Malaria, resistance to medgen_c2720293 MedGen:C2720293 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hemoglobin Lepore trait medgen_c0472769 MedGen:C0472769 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 beta Thalassemia mondo_mondo_0019402_medgen_c0005283_orphanet_848 MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN H HYDROPS FETALIS SYNDROME medgen_c3278365 MedGen:C3278365 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Alpha-thalassemia, Dutch type medgen_c1456873 MedGen:C1456873 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Hemoglobin H disease, nondeletional medgen_c3279561 MedGen:C3279561 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HBA1-related disorder hba1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAX1 Severe congenital neutropenia mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHB HADHB-related disorder hadhb_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHA HADHA-related disorder hadha_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYS2 GYS2-related disorder gys2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUSB Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTPBP1 Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 mondo_mondo_0975745_medgen_c5975340_omim_620888 MONDO:MONDO:0975745,MedGen:C5975340,OMIM:620888 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSN condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSDME condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSC Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome mondo_mondo_0011227_medgen_c1865361_omim_602471_orphanet_397623 MONDO:MONDO:0011227,MedGen:C1865361,OMIM:602471,Orphanet:397623 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR1 GRXCR1-related disorder grxcr1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Brain atrophy human_phenotype_ontology_hp_0012444_medgen_c4551584 Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM1 Spinocerebellar ataxia 44 mondo_mondo_0033479_medgen_c4521563_omim_617691_orphanet_631095 MONDO:MONDO:0033479,MedGen:C4521563,OMIM:617691,Orphanet:631095 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRK2 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRK1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B intellectual deficiency intellectual_deficiency MedGen:CN228659 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Developmental disorder medgen_c0008073 MedGen:C0008073 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHPR Primary hyperoxaluria mondo_mondo_0002474_medgen_c0020501_omim_ps259900_orphanet_416 MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL2 Corneal dystrophy human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Mayer Rokitansky Kuster Hauser syndrome type 1 mondo_mondo_0010173_medgen_c5566555_omim_277000_orphanet_247775 MONDO:MONDO:0010173,MedGen:C5566555,OMIM:277000,Orphanet:247775 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPT2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPSM2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR68 Amelogenesis imperfecta, hypomaturation type, IIa6 mondo_mondo_0014971_medgen_c4310665_omim_617217 MONDO:MONDO:0014971,MedGen:C4310665,OMIM:617217 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 GPR143-related disorder gpr143_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPLD1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome mondo_mondo_0014495_medgen_c4015242_omim_616108_orphanet_436245 MONDO:MONDO:0014495,MedGen:C4015242,OMIM:616108,Orphanet:436245 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC4 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPAT2 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPAA1 GPAA1-related disorder gpaa1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP9 Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB Bernard-Soulier syndrome, type B medgen_c1856447 MedGen:C1856447 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB GNPTAB-mucolipidosis mondo_mondo_0100122_medgen_cn322573 MONDO:MONDO:0100122,MedGen:CN322573 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Focal impaired awareness seizure human_phenotype_ontology_hp_0002278_human_phenotype_ontology_hp_0002384_medgen_c0270834 Human_Phenotype_Ontology:HP:0002278,Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Floppy infant human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Expressive language delay human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 EEG with generalized epileptiform discharges human_phenotype_ontology_hp_0010842_human_phenotype_ontology_hp_0011198_medgen_c4023476 Human_Phenotype_Ontology:HP:0010842,Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Acute lymphoid leukemia human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT2 Achromatopsia human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT1 Congenital stationary night blindness autosomal dominant 3 mondo_mondo_0012497_medgen_c1864870_omim_610444_orphanet_215 MONDO:MONDO:0012497,MedGen:C1864870,OMIM:610444,Orphanet:215 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Disorders of GNAS Inactivation disorders_of_gnas_inactivation . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMNN Meier-Gorlin syndrome 6 mondo_mondo_0014794_medgen_c4225188_omim_616835_orphanet_2554 MONDO:MONDO:0014794,MedGen:C4225188,OMIM:616835,Orphanet:2554 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMNN Meier-Gorlin syndrome mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GM2A condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLYCTK D-Glyceric aciduria mondo_mondo_0009070_medgen_c0342765_omim_220120_orphanet_941 MONDO:MONDO:0009070,MedGen:C0342765,OMIM:220120,Orphanet:941 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLS Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development mondo_mondo_0032685_medgen_c5193037_omim_618339 MONDO:MONDO:0032685,MedGen:C5193037,OMIM:618339 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLMN Vascular skin disorders vascular_skin_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Postaxial polydactyly, type A1/B medgen_c4016298 MedGen:C4016298 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Polyhydramnios human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 Autosomal recessive nonsyndromic hearing loss 1B mondo_mondo_0012977_medgen_c2675235_omim_612645_orphanet_90636 MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 Autosomal recessive nonsyndromic hearing loss 1A mondo_mondo_0009076_medgen_c2673759_omim_220290_orphanet_90636 MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Deafness medgen_c0011053 MedGen:C0011053 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA8 GJA8-related disorder gja8_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA8 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA3 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 GJA1-related disorder gja1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Atrioventricular septal defect and common atrioventricular junction medgen_c0344783 MedGen:C0344783 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIPC3 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIMAP5 Portal hypertension, noncirrhotic, 2 mondo_mondo_0030397_medgen_c5561948_omim_619463 MONDO:MONDO:0030397,MedGen:C5561948,OMIM:619463 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIMAP5 Portal hypertension human_phenotype_ontology_hp_0001409_mondo_mondo_0005080_mesh_d006975_medgen_c0020541 Human_Phenotype_Ontology:HP:0001409,MONDO:MONDO:0005080,MeSH:D006975,MedGen:C0020541 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF1 condition not provided condition_not_provided MedGen:CN169374 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHR Laron syndrome with undetectable serum GH-binding protein medgen_c4016706 MedGen:C4016706 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHR Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GH1 Isolated growth hormone deficiency type IB mondo_mondo_0013006_medgen_c2748571_omim_612781_orphanet_231671_orphanet_631 MONDO:MONDO:0013006,MedGen:C2748571,OMIM:612781,Orphanet:231671,Orphanet:631 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGPS1 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome mondo_mondo_0859189_medgen_c5561980_omim_619518 MONDO:MONDO:0859189,MedGen:C5561980,OMIM:619518 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGCX GGCX-related disorder ggcx_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFRA1 Renal hypodysplasia/aplasia 4 mondo_mondo_0030822_medgen_c5676993_omim_619887 MONDO:MONDO:0030822,MedGen:C5676993,OMIM:619887 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFAP GFAP-related disorder gfap_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities mondo_mondo_0060664_medgen_c4693567_omim_617913 MONDO:MONDO:0060664,MedGen:C4693567,OMIM:617913 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCSH condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCM2 Familial hypoparathyroidism mondo_mondo_0016390_medgen_c1832648_omim_ps146200_orphanet_2238 MONDO:MONDO:0016390,MedGen:C1832648,OMIM:PS146200,Orphanet:2238 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Conotruncal heart malformations mondo_mondo_0016581_medgen_c1857586_omim_217095_orphanet_2445_orphanet_3384_orphanet_3426 MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Congenital diaphragmatic hernia human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 Ventricular septal defect 1 mondo_mondo_0013746_medgen_c3280777_omim_614429 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 Testicular anomalies with or without congenital heart disease mondo_mondo_0014239_medgen_c3809858_omim_615542_orphanet_251510 MONDO:MONDO:0014239,MedGen:C3809858,OMIM:615542,Orphanet:251510 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Beta-thalassemia-X-linked thrombocytopenia syndrome mondo_mondo_0010745_medgen_c1839161_omim_314050_orphanet_231393 MONDO:MONDO:0010745,MedGen:C1839161,OMIM:314050,Orphanet:231393 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 Spinal muscular atrophy, infantile, James type mondo_mondo_0033621_medgen_c5436669_omim_619042 MONDO:MONDO:0033621,MedGen:C5436669,OMIM:619042 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 Neuronopathy, distal hereditary motor, type 5 mondo_mondo_0100350_medgen_c1833308_orphanet_139536 MONDO:MONDO:0100350,MedGen:C1833308,Orphanet:139536 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GANAB GANAB-related disorder ganab_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALM condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALM Galactosemia 4 mondo_mondo_0030105_medgen_c5394377_omim_618881_orphanet_570422 MONDO:MONDO:0030105,MedGen:C5394377,OMIM:618881,Orphanet:570422 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Generalized epilepsy with febrile seizures plus 3 medgen_c1858674 MedGen:C1858674 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRD Epilepsy, idiopathic generalized, susceptibility to, 10 mondo_mondo_0013103_medgen_c2751603_omim_613060 MONDO:MONDO:0013103,MedGen:C2751603,OMIM:613060 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR2 Neurodevelopmental disorder with poor language and loss of hand skills mondo_mondo_0060659_medgen_c4693546_omim_617903 MONDO:MONDO:0060659,MedGen:C4693546,OMIM:617903 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD5 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD2 Autosomal dominant omodysplasia mondo_mondo_0008123_medgen_c2750355_omim_164745_orphanet_2733_orphanet_93328 MONDO:MONDO:0008123,MedGen:C2750355,OMIM:164745,Orphanet:2733,Orphanet:93328 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD2 Autosomal dominant Robinow syndrome 2 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD2 Autosomal dominant Robinow syndrome 1 mondo_mondo_0024455_medgen_c4551475_omim_180700_orphanet_3107_orphanet_97360 MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FYN EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUT1 Para-Bombay phenotype medgen_c1859411 MedGen:C1859411 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTSJ1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTL FTL-related disorder ftl_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 Neurodegeneration with brain iron accumulation 9 mondo_mondo_0958012_medgen_c5882740_omim_620669 MONDO:MONDO:0958012,MedGen:C5882740,OMIM:620669 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTCD FTCD-related disorder ftcd_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHR condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSCN2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMD4A Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome mondo_mondo_0014787_medgen_c4225193_omim_616819_orphanet_466688 MONDO:MONDO:0014787,MedGen:C4225193,OMIM:616819,Orphanet:466688 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRAS1 Renal agenesis human_phenotype_ontology_hp_0000104_human_phenotype_ontology_hp_0000785_human_phenotype_ontology_hp_0004745_human_phenotype_ontology_hp_0008680_mondo_mondo_0018470_medgen_c0542519_omim_ps191830_orphanet_411709 Human_Phenotype_Ontology:HP:0000104,Human_Phenotype_Ontology:HP:0000785,Human_Phenotype_Ontology:HP:0004745,Human_Phenotype_Ontology:HP:0008680,MONDO:MONDO:0018470,MedGen:C0542519,OMIM:PS191830,Orphanet:411709 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRAS1 Cryptophthalmos syndrome mondo_mondo_0009046_medgen_c0265233_omim_ps219000_orphanet_2052 MONDO:MONDO:0009046,MedGen:C0265233,OMIM:PS219000,Orphanet:2052 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRAS1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRA10AC1 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 FOXP1-related disorder foxp1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 FOXL2-related disorder foxl2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXI1 Autosomal recessive nonsyndromic hearing loss 4 mondo_mondo_0010933_medgen_c3538946_omim_600791_orphanet_90636 MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE3 Cataract 34 multiple types mondo_mondo_0013067_medgen_c2751822_omim_612968_orphanet_91492 MONDO:MONDO:0013067,MedGen:C2751822,OMIM:612968,Orphanet:91492 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMO3 FMO3-related disorder fmo3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT3 Acute lymphoid leukemia human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLII Cardiomyopathy, dilated, 2j mondo_mondo_0957984_medgen_c5882725_omim_620635 MONDO:MONDO:0957984,MedGen:C5882725,OMIM:620635 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Dermatitis, atopic, 2, susceptibility to medgen_c2675432 MedGen:C2675432 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN FKTN-related disorder fktn_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 medgen_c4016970 MedGen:C4016970 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 Osteogenesis imperfecta type III mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FITM2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHOD3 Cardiomyopathy, familial hypertrophic, 28 mondo_mondo_0030317_medgen_c5543616_omim_619402 MONDO:MONDO:0030317,MedGen:C5543616,OMIM:619402 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Uruguay Faciocardiomusculoskeletal syndrome mondo_mondo_0010292_medgen_c1846010_omim_300280 MONDO:MONDO:0010292,MedGen:C1846010,OMIM:300280 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Emery-Dreifuss muscular dystrophy 6 mondo_mondo_0800318_medgen_c2749106 MONDO:MONDO:0800318,MedGen:C2749106 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG FGG-related disorder fgg_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Thanatophoric dysplasia mondo_mondo_0017042_medgen_c0039743_orphanet_2655 MONDO:MONDO:0017042,MedGen:C0039743,Orphanet:2655 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF5 Trichomegaly mondo_mondo_0008593_medgen_c0854699_omim_190330 MONDO:MONDO:0008593,MedGen:C0854699,OMIM:190330 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF16 Syndactyly type 8 mondo_mondo_0010669_medgen_c1839728_omim_309630_orphanet_2498 MONDO:MONDO:0010669,MedGen:C1839728,OMIM:309630,Orphanet:2498 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF12 Developmental and epileptic encephalopathy, 47 mondo_mondo_0014949_medgen_c4310685_omim_617166 MONDO:MONDO:0014949,MedGen:C4310685,OMIM:617166 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERMT1 FERMT1-related disorder fermt1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDPS Porokeratosis 9, multiple types mondo_mondo_0014713_medgen_c4225262_omim_616631_orphanet_79152 MONDO:MONDO:0014713,MedGen:C4225262,OMIM:616631,Orphanet:79152 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDFT1 Squalene synthase deficiency mondo_mondo_0032566_medgen_c4748427_omim_618156 MONDO:MONDO:0032566,MedGen:C4748427,OMIM:618156 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW11 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO43 Oocyte maturation defect 12 mondo_mondo_0030523_medgen_c5562063_omim_619697 MONDO:MONDO:0030523,MedGen:C5562063,OMIM:619697 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO31 Intellectual disability, autosomal recessive 45 mondo_mondo_0014430_medgen_c4014864_omim_615979_orphanet_88616 MONDO:MONDO:0014430,MedGen:C4014864,OMIM:615979,Orphanet:88616 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Polydactyly human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Mitral valve prolapse human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 High palate human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Aortic root aneurysm human_phenotype_ontology_hp_0002616_human_phenotype_ontology_hp_0002631_human_phenotype_ontology_hp_0004750_human_phenotype_ontology_hp_0005125_medgen_c1298820 Human_Phenotype_Ontology:HP:0002616,Human_Phenotype_Ontology:HP:0002631,Human_Phenotype_Ontology:HP:0004750,Human_Phenotype_Ontology:HP:0005125,MedGen:C1298820 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Aortic dissection human_phenotype_ontology_hp_0002647_medgen_c0340643 Human_Phenotype_Ontology:HP:0002647,MedGen:C0340643 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Abnormality of connective tissue human_phenotype_ontology_hp_0003549_medgen_c4025596 Human_Phenotype_Ontology:HP:0003549,MedGen:C4025596 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBLN5 Cutis laxa, autosomal recessive, type 1A mondo_mondo_0009052_medgen_c5848058_omim_219100_orphanet_90349 MONDO:MONDO:0009052,MedGen:C5848058,OMIM:219100,Orphanet:90349 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBLN5 Charcot-Marie-Tooth disease, demyelinating, IIA 1H mondo_mondo_0030689_medgen_c5676926_omim_619764 MONDO:MONDO:0030689,MedGen:C5676926,OMIM:619764 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT4 FAT4-related disorder fat4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT1 FAT1-related disorder fat1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASTKD2 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASTKD2 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC medgen_c4016044 MedGen:C4016044 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAR1 CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY cataracts_spastic_paraplegia_and_speech_delay . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCF FANCF-related disorder fancf_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCE Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM83H FAM83H-related disorder fam83h_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM50A Armfield syndrome mondo_mondo_0010284_medgen_c1846057_omim_300261_orphanet_85276 MONDO:MONDO:0010284,MedGen:C1846057,OMIM:300261,Orphanet:85276 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM161A Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FA2H Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Severe hemophilia A mondo_mondo_0015719_medgen_c0272322_orphanet_169802 MONDO:MONDO:0015719,MedGen:C0272322,Orphanet:169802 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F7 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Prolonged prothrombin time human_phenotype_ontology_hp_0008151_medgen_c0853225 Human_Phenotype_Ontology:HP:0008151,MedGen:C0853225 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Pregnancy loss, recurrent, susceptibility to, 2 mondo_mondo_0013728_medgen_c3280672_omim_614390 MONDO:MONDO:0013728,MedGen:C3280672,OMIM:614390 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Ischemic stroke human_phenotype_ontology_hp_0002140_mondo_mondo_1060198_medgen_c0948008_omim_601367 Human_Phenotype_Ontology:HP:0002140,MONDO:MONDO:1060198,MedGen:C0948008,OMIM:601367 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13B condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F10 F10-related disorder f10_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 EYA4-related disorder eya4_related_disorder MedGen:CN239388 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT2 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Hematologic neoplasm human_phenotype_ontology_hp_0004377_mesh_d019337_medgen_c0376545 Human_Phenotype_Ontology:HP:0004377,MeSH:D019337,MedGen:C0376545 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFB condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFA Glutaric acidemia IIa mondo_mondo_0700073_medgen_c3278154 MONDO:MONDO:0700073,MedGen:C3278154 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN Deafness, without vestibular involvement, autosomal dominant deafness_without_vestibular_involvement_autosomal_dominant MedGen:CN068820 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESCO2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN2 Spastic paraplegia 18b, autosomal recessive mondo_mondo_0700309_medgen_cn380649_omim_611225 MONDO:MONDO:0700309,MedGen:CN380649,OMIM:611225 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN2 Spastic paraplegia 18a, autosomal dominant mondo_mondo_0957788_medgen_c5882694_omim_620512 MONDO:MONDO:0957788,MedGen:C5882694,OMIM:620512 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN2 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN1 Hereditary spastic paraplegia 62 mondo_mondo_0014302_medgen_c4284588_omim_615681_orphanet_401785 MONDO:MONDO:0014302,MedGen:C4284588,OMIM:615681,Orphanet:401785 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERI1 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERG Lymphatic malformation 14 mondo_mondo_0957954_medgen_c5882718_omim_620602 MONDO:MONDO:0957954,MedGen:C5882718,OMIM:620602 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 ERCC5-related disorder ercc5_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Xeroderma pigmentosum, type F/Cockayne syndrome mondo_mondo_0800313_medgen_c3806565 MONDO:MONDO:0800313,MedGen:C3806565 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC3 ERCC3-related disorder ercc3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB3 Erythroleukemia, familial, susceptibility to mondo_mondo_0007573_medgen_c5552985_omim_133180_orphanet_318 MONDO:MONDO:0007573,MedGen:C5552985,OMIM:133180,Orphanet:318 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB3 ERBB3-related disorder erbb3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPOR condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPOR Primary familial polycythemia due to EPO receptor mutation mondo_mondo_0007572_medgen_c4551637_omim_133100_orphanet_90042 MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 Capillary malformation-arteriovenous malformation syndrome mondo_mondo_0012016_medgen_c1842180_omim_ps608354_orphanet_137667 MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPG5 NEURODEVELOPMENTAL DISORDER WITH PARKINSONISM OR OTHER MOVEMENT ABNORMALITIES neurodevelopmental_disorder_with_parkinsonism_or_other_movement_abnormalities MedGen:CN380875,OMIM:621506 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPAS1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EOGT condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENO3 Glycogen storage disease due to muscle beta-enolase deficiency mondo_mondo_0013046_medgen_c2752027_omim_612932_orphanet_99849 MONDO:MONDO:0013046,MedGen:C2752027,OMIM:612932,Orphanet:99849 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENAM ENAM-related disorder enam_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMP2 Nephrotic syndrome, type 10 mondo_mondo_0014373_medgen_c4014507_omim_615861 MONDO:MONDO:0014373,MedGen:C4014507,OMIM:615861 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EME2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP2 Profound intellectual disability human_phenotype_ontology_hp_0002187_medgen_c3161330 Human_Phenotype_Ontology:HP:0002187,MedGen:C3161330 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL4 Spinocerebellar ataxia type 34 mondo_mondo_0007574_medgen_c1851481_omim_133190_orphanet_1955 MONDO:MONDO:0007574,MedGen:C1851481,OMIM:133190,Orphanet:1955 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELN Williams syndrome mondo_mondo_0008678_medgen_c0175702_omim_194050_orphanet_904 MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050,Orphanet:904 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELF4 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 mondo_mondo_0024770_medgen_c5575495_omim_301074_orphanet_676125 MONDO:MONDO:0024770,MedGen:C5575495,OMIM:301074,Orphanet:676125 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELANE Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK4 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK4 EIF2AK4-related disorder eif2ak4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFL1 Shwachman syndrome mondo_mondo_0009833_medgen_c0272170_omim_ps260400_orphanet_811 MONDO:MONDO:0009833,MedGen:C0272170,OMIM:PS260400,Orphanet:811 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Glaucoma of childhood human_phenotype_ontology_hp_0001087_mondo_mondo_0020367_medgen_c2981140_orphanet_98977 Human_Phenotype_Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Cutis laxa, autosomal recessive, type 1d mondo_mondo_0958335_medgen_c5935602_omim_620780 MONDO:MONDO:0958335,MedGen:C5935602,OMIM:620780 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEFSEC Neurodevelopmental disorder with progressive spasticity and brain abnormalities mondo_mondo_0976233_medgen_c6012700_omim_621102 MONDO:MONDO:0976233,MedGen:C6012700,OMIM:621102 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB EDNRB-related disorder ednrb_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECM1 ECM1-related disorder ecm1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECHS1 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECHS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECHDC1 Deficiency of butyryl-CoA dehydrogenase mondo_mondo_0008722_medgen_c0342783_omim_201470_orphanet_26792 MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 EBF3-related disorder ebf3_related_disorder MedGen:CN239924 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DZIP1L DZIP1L-related disorder dzip1l_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A DYRK1A-related disorder dyrk1a_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I2 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Spinal muscular atrophy with lower extremity predominance mondo_mondo_0018190_medgen_c1834690_omim_ps158600_orphanet_363447 MONDO:MONDO:0018190,MedGen:C1834690,OMIM:PS158600,Orphanet:363447 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYM DYM-related disorder dym_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOXA2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOX2 Nongoitrous Euthyroid Hyperthyrotropinemia nongoitrous_euthyroid_hyperthyrotropinemia . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DTNBP1 DTNBP1-related disorder dtnbp1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Dentinogenesis imperfecta human_phenotype_ontology_hp_0000703_mondo_mondo_0018849_medgen_c0011436_orphanet_49042 Human_Phenotype_Ontology:HP:0000703,MONDO:MONDO:0018849,MedGen:C0011436,Orphanet:49042 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Dentin dysplasia, Type II; DTDP2 dentin_dysplasia_type_ii_dtdp2 . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP DSPP-related disorder dspp_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Arrhythmogenic right ventricular dysplasia 9 mondo_mondo_0012180_medgen_c1836906_omim_609040 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG4 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSCAM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYD DPYD-related disorder dpyd_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPP9 Hatipoglu immunodeficiency syndrome mondo_mondo_0957229_medgen_c5830439_omim_620331 MONDO:MONDO:0957229,MedGen:C5830439,OMIM:620331 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH5 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties mondo_mondo_0859295_medgen_c5774228_omim_620070 MONDO:MONDO:0859295,MedGen:C5774228,OMIM:620070 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH2 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 mondo_mondo_0100217_medgen_c5774223_omim_620062 MONDO:MONDO:0100217,MedGen:C5774223,OMIM:620062 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH1 Developmental delay with short stature, dysmorphic facial features, and sparse hair mondo_mondo_0031632_medgen_c4310801_omim_ps616901_orphanet_459061 MONDO:MONDO:0031632,MedGen:C4310801,OMIM:PS616901,Orphanet:459061 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON DONSON-related disorder donson_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOLK condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Ritscher-Schinzel syndrome 2 mondo_mondo_0010499_medgen_c4225419_omim_300963_orphanet_7 MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK1 Myopia 28, autosomal recessive mondo_mondo_0030697_medgen_c5676935_omim_619781 MONDO:MONDO:0030697,MedGen:C5676935,OMIM:619781 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK8 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK8 DOCK8-related disorder dock8_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK4 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L DNM1L-related disorder dnm1l_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Developmental and epileptic encephalopathy, 31B mondo_mondo_0957248_medgen_c5830459_omim_620352 MONDO:MONDO:0957248,MedGen:C5830459,OMIM:620352 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNASE2 Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency mondo_mondo_0800132_medgen_c5676977_omim_619858 MONDO:MONDO:0800132,MedGen:C5676977,OMIM:619858 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNASE1L1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAL1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC9 Joubert syndrome 36 mondo_mondo_0032902_medgen_c5231493_omim_618763 MONDO:MONDO:0032902,MedGen:C5231493,OMIM:618763 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB2 Autosomal recessive distal spinal muscular atrophy 2 mondo_mondo_0011585_medgen_c1854023_omim_605726_orphanet_139552 MONDO:MONDO:0011585,MedGen:C1854023,OMIM:605726,Orphanet:139552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH8 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 Laterality defects, autosomal dominant mondo_mondo_0010991_medgen_c1832813_omim_601086_orphanet_450 MONDO:MONDO:0010991,MedGen:C1832813,OMIM:601086,Orphanet:450 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF5 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF4 DNAAF4-related disorder dnaaf4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF11 DNAAF11-related disorder dnaaf11_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNA2 Seckel syndrome 8 mondo_mondo_0014350_medgen_c3891452_omim_615807_orphanet_808 MONDO:MONDO:0014350,MedGen:C3891452,OMIM:615807,Orphanet:808 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMRT1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMRT1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD X-linked DMD-related disorders x_linked_dmd_related_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Intermediate muscular dystrophy medgen_c4016477 MedGen:C4016477 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Duchenne and Becker muscular dystrophy medgen_c3542021_orphanet_262 MedGen:C3542021,Orphanet:262 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Calf muscle hypertrophy human_phenotype_ontology_hp_0003703_human_phenotype_ontology_hp_0008981_human_phenotype_ontology_hp_0009024_medgen_c1843057 Human_Phenotype_Ontology:HP:0003703,Human_Phenotype_Ontology:HP:0008981,Human_Phenotype_Ontology:HP:0009024,MedGen:C1843057 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMC1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX5 Split hand-foot malformation 1 with sensorineural hearing loss mondo_mondo_0009080_medgen_c1857344_omim_220600_orphanet_71271 MONDO:MONDO:0009080,MedGen:C1857344,OMIM:220600,Orphanet:71271 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL4 DLL4-related disorder dll4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLAT condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIABLO Autosomal dominant nonsyndromic hearing loss 64 mondo_mondo_0013593_medgen_c3279948_omim_614152_orphanet_90635 MONDO:MONDO:0013593,MedGen:C3279948,OMIM:614152,Orphanet:90635 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Neurodevelopmental disorders neurodevelopmental_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHH Differences in sex development differences_in_sex_development . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHDDS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGUOK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGAT1 DGAT1-related disorder dgat1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES DES-related disorder des_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEF6 Immunodeficiency 87 and autoimmunity mondo_mondo_0030457_medgen_c5562070_omim_619573 MONDO:MONDO:0030457,MedGen:C5562070,OMIM:619573 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX54 Neurodevelopmental disorders neurodevelopmental_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX54 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX54 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 Myelodysplasia human_phenotype_ontology_hp_0002863_human_phenotype_ontology_hp_0004832_human_phenotype_ontology_hp_0006730_medgen_c0026985 Human_Phenotype_Ontology:HP:0002863,Human_Phenotype_Ontology:HP:0004832,Human_Phenotype_Ontology:HP:0006730,MedGen:C0026985 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX23 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX17 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDOST Congenital disorder of glycosylation type Ir mondo_mondo_0013789_medgen_c3281084_omim_614507_orphanet_300536 MONDO:MONDO:0013789,MedGen:C3281084,OMIM:614507,Orphanet:300536 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCT Albinism human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1B Dyskeratosis congenita, autosomal recessive 8 mondo_mondo_0859319_medgen_c5774257_omim_620133 MONDO:MONDO:0859319,MedGen:C5774257,OMIM:620133 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC DCC-related disorder dcc_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF17 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBT DBT-related disorder dbt_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBNL condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 CHD7-related CHARGE syndrome mondo_mondo_1010178_medgen_cn380413_omim_214800 MONDO:MONDO:1010178,MedGen:CN380413,OMIM:214800 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 CYP2U1-related disorder cyp2u1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2R1 CYP2R1-related disorder cyp2r1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27B1 CYP27B1-related disorder cyp27b1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Irido-corneo-trabecular dysgenesis human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 Differences in sex development differences_in_sex_development . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11A1 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY medgen_c2936858_omim_201910 MedGen:C2936858,OMIM:201910 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD Trichoepithelioma, multiple familial, 1 mondo_mondo_0042977_medgen_cn296585_omim_601606 MONDO:MONDO:0042977,MedGen:CN296585,OMIM:601606 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB5A Methemoglobinemia type 4 mondo_mondo_0009605_medgen_c4285231_omim_250790_orphanet_621 MONDO:MONDO:0009605,MedGen:C4285231,OMIM:250790,Orphanet:621 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUX2 Developmental and epileptic encephalopathy, 67 mondo_mondo_0029138_medgen_c4748341_omim_618141 MONDO:MONDO:0029138,MedGen:C4748341,OMIM:618141 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN Autosomal recessive CUBN-related disorders autosomal_recessive_cubn_related_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Infantile nephropathic cystinosis mondo_mondo_0018467_medgen_c3537440_orphanet_411629 MONDO:MONDO:0018467,MedGen:C3537440,Orphanet:411629 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNND2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Hepatoblastoma human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA3 Arrhythmogenic right ventricular dysplasia 13 mondo_mondo_0000908_medgen_c3810138_omim_615616 MONDO:MONDO:0000908,MedGen:C3810138,OMIM:615616 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 Polyposis syndrome, hereditary mixed, 1 mondo_mondo_0042486_medgen_c1832587_omim_601228_orphanet_157794 MONDO:MONDO:0042486,MedGen:C1832587,OMIM:601228,Orphanet:157794 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 Type 1 diabetes mellitus 12 mondo_mondo_0011068_medgen_c1832392_omim_601388 MONDO:MONDO:0011068,MedGen:C1832392,OMIM:601388 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 Systemic lupus erythematosus human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 Hashimoto thyroiditis human_phenotype_ontology_hp_0000872_mondo_mondo_0007699_medgen_c0677607_omim_140300 Human_Phenotype_Ontology:HP:0000872,MONDO:MONDO:0007699,MedGen:C0677607,OMIM:140300 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 Celiac disease, susceptibility to, 3 mondo_mondo_0012341_medgen_c1857845_omim_609755 MONDO:MONDO:0012341,MedGen:C1857845,OMIM:609755 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTCF Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTBP2 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTA condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF3R Severe congenital neutropenia mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF3R Hereditary neutrophilia mondo_mondo_0008092_medgen_c0543669_omim_162830_orphanet_279943 MONDO:MONDO:0008092,MedGen:C0543669,OMIM:162830,Orphanet:279943 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSDE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGC CRYGC-related disorder crygc_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB2 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA1 CRYBA1-related disorder cryba1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAA Cataract 9, multiple types, with microcornea medgen_c4015986 MedGen:C4015986 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Benign concentric annular macular dystrophy mondo_mondo_0007934_medgen_c5561925_omim_153870_orphanet_251287 MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870,Orphanet:251287 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRTAP CRTAP-related disorder crtap_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRNKL1 Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia mondo_mondo_0980935_medgen_cn380680_omim_621436 MONDO:MONDO:0980935,MedGen:CN380680,OMIM:621436 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRLS1 Combined oxidative phosphorylation deficiency 57 mondo_mondo_0859337_medgen_c5774275_omim_620167 MONDO:MONDO:0859337,MedGen:C5774275,OMIM:620167 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Early-onset retinal dystrophy early_onset_retinal_dystrophy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRADD condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CR2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPOX Harderoporphyria mondo_mondo_0030048_medgen_c0342859_omim_618892_orphanet_659672 MONDO:MONDO:0030048,MedGen:C0342859,OMIM:618892,Orphanet:659672 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLX1 Developmental and epileptic encephalopathy, 63 mondo_mondo_0033372_medgen_c4693810_omim_617976 MONDO:MONDO:0033372,MedGen:C4693810,OMIM:617976 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Jaundice human_phenotype_ontology_hp_0000952_medgen_c0022346 Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPA1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COXFA4 Mitochondrial complex IV deficiency, nuclear type 21 mondo_mondo_0033656_medgen_c5436727_omim_619065 MONDO:MONDO:0033656,MedGen:C5436727,OMIM:619065 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX7B Linear skin defects with multiple congenital anomalies 2 mondo_mondo_0010474_medgen_c3550921_omim_300887_orphanet_2556 MONDO:MONDO:0010474,MedGen:C3550921,OMIM:300887,Orphanet:2556 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX18 Charcot-marie-tooth disease, axonal, type 2MM mondo_mondo_0980971_medgen_cn380855_omim_621488 MONDO:MONDO:0980971,MedGen:CN380855,OMIM:621488 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX10 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ4 COQ4-related disorder coq4_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 Stickler syndrome, type 5 mondo_mondo_0013666_medgen_c3280342_omim_614284_orphanet_250984_orphanet_828 MONDO:MONDO:0013666,MedGen:C3280342,OMIM:614284,Orphanet:250984,Orphanet:828 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 Monogenic hearing loss monogenic_hearing_loss . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL8A2 Corneal dystrophy, Fuchs endothelial, 1 mondo_mondo_0007637_medgen_c1850959_omim_136800_orphanet_98974 MONDO:MONDO:0007637,MedGen:C1850959,OMIM:136800,Orphanet:98974 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Abnormal blistering of the skin human_phenotype_ontology_hp_0007467_human_phenotype_ontology_hp_0007496_human_phenotype_ontology_hp_0008066_human_phenotype_ontology_hp_0200038_medgen_c2132198 Human_Phenotype_Ontology:HP:0007467,Human_Phenotype_Ontology:HP:0007496,Human_Phenotype_Ontology:HP:0008066,Human_Phenotype_Ontology:HP:0200038,MedGen:C2132198 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT ullrich_congenital_muscular_dystrophy_1a_autosomal_dominant . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A6 Hearing loss, X-linked 6 mondo_mondo_0010484_medgen_c3806737_omim_300914_orphanet_90625 MONDO:MONDO:0010484,MedGen:C3806737,OMIM:300914,Orphanet:90625 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Autosomal dominant Alport syndrome mondo_mondo_0007086_medgen_c5882663_omim_104200_orphanet_63_orphanet_88918 MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Disease of glomerular basement membrane disease_of_glomerular_basement_membrane . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Spondylometaphyseal dysplasia human_phenotype_ontology_hp_0002657_mondo_mondo_0016763_medgen_c4759767_omim_ps184255_orphanet_254 Human_Phenotype_Ontology:HP:0002657,MONDO:MONDO:0016763,MedGen:C4759767,OMIM:PS184255,Orphanet:254 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 COL2A1-related skeletal dysplasia col2a1_related_skeletal_dysplasia . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL27A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Dentinogenesis imperfecta human_phenotype_ontology_hp_0000703_mondo_mondo_0018849_medgen_c0011436_orphanet_49042 Human_Phenotype_Ontology:HP:0000703,MONDO:MONDO:0018849,MedGen:C0011436,Orphanet:49042 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Fibrochondrogenesis mondo_mondo_0016068_medgen_c0265282_omim_ps228520_orphanet_2021 MONDO:MONDO:0016068,MedGen:C0265282,OMIM:PS228520,Orphanet:2021 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG8 COG8-related disorder cog8_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH Hereditary hearing loss and deafness medgen_c0236038 MedGen:C0236038 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COA7 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 mondo_mondo_0014668_medgen_c4225304_omim_616501_orphanet_1561 MONDO:MONDO:0014668,MedGen:C4225304,OMIM:616501,Orphanet:1561 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT3 CNOT3-related disorder cnot3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNKSR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CMPK2 Basal ganglia calcification, idiopathic, 10, autosomal recessive mondo_mondo_0975875_medgen_c5975532_omim_621018 MONDO:MONDO:0975875,MedGen:C5975532,OMIM:621018 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPP Perrault syndrome mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Adult neuronal ceroid lipofuscinosis mondo_mondo_0019260_medgen_c0022797_orphanet_228340_orphanet_79262 MONDO:MONDO:0019260,MedGen:C0022797,Orphanet:228340,Orphanet:79262 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN9 Hearing loss, autosomal recessive 116 mondo_mondo_0033670_medgen_c5436789_omim_619093 MONDO:MONDO:0033670,MedGen:C5436789,OMIM:619093 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN5 CLDN5-related neurodevelopmental disorder cldn5_related_neurodevelopmental_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN14 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Myotonia human_phenotype_ontology_hp_0002486_human_phenotype_ontology_hp_0003632_human_phenotype_ontology_hp_0003754_human_phenotype_ontology_hp_0003792_medgen_c0700153 Human_Phenotype_Ontology:HP:0002486,Human_Phenotype_Ontology:HP:0003632,Human_Phenotype_Ontology:HP:0003754,Human_Phenotype_Ontology:HP:0003792,MedGen:C0700153 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CISD2 Wolfram syndrome 2 mondo_mondo_0011502_medgen_c1858028_omim_604928_orphanet_3463 MONDO:MONDO:0011502,MedGen:C1858028,OMIM:604928,Orphanet:3463 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIROZ Heterotaxy, visceral, 14, autosomal mondo_mondo_0976135_medgen_c5975611_omim_621080 MONDO:MONDO:0976135,MedGen:C5975611,OMIM:621080 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CILK1 Endocrine-cerebro-osteodysplasia syndrome mondo_mondo_0012980_medgen_c2675227_omim_612651_orphanet_199332 MONDO:MONDO:0012980,MedGen:C2675227,OMIM:612651,Orphanet:199332 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIITA condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIBAR1 Polydactyly, postaxial, type A9 mondo_mondo_0032603_medgen_c4748721_omim_618219 MONDO:MONDO:0032603,MedGen:C4748721,OMIM:618219 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIAO1 Multiple mitochondrial dysfunctions syndrome 10 mondo_mondo_0975806_medgen_c5975413_omim_620960 MONDO:MONDO:0975806,MedGen:C5975413,OMIM:620960 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST14 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB2 Autosomal dominant nocturnal frontal lobe epilepsy mondo_mondo_0020300_medgen_c3696898_orphanet_98784 MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA2 Autosomal dominant nocturnal frontal lobe epilepsy 4 mondo_mondo_0012474_medgen_c1835905_omim_610353_orphanet_98784 MONDO:MONDO:0012474,MedGen:C1835905,OMIM:610353,Orphanet:98784 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRM3 Prune belly syndrome human_phenotype_ontology_hp_0004392_mondo_mondo_0007032_medgen_c0033770_omim_100100_orphanet_2970 Human_Phenotype_Ontology:HP:0004392,MONDO:MONDO:0007032,MedGen:C0033770,OMIM:100100,Orphanet:2970 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRDL1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHMP4B Cataract 31 multiple types mondo_mondo_0011547_medgen_c1854311_omim_605387_orphanet_91492 MONDO:MONDO:0011547,MedGen:C1854311,OMIM:605387,Orphanet:91492 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHMP1A Pontocerebellar hypoplasia type 8 mondo_mondo_0013990_medgen_c3554209_omim_614961_orphanet_324569 MONDO:MONDO:0013990,MedGen:C3554209,OMIM:614961,Orphanet:324569 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHM Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Inherited prostate cancer inherited_prostate_cancer . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD1 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD10 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD10 Lower motor neuron syndrome with late-adult onset mondo_mondo_0014025_medgen_c3554398_omim_615048_orphanet_276435 MONDO:MONDO:0014025,MedGen:C3554398,OMIM:615048,Orphanet:276435 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 mondo_mondo_0014395_medgen_c4014648_omim_615911_orphanet_275872 MONDO:MONDO:0014395,MedGen:C4014648,OMIM:615911,Orphanet:275872 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFH CFH-related disorder cfh_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFC1 Heterotaxy, visceral, 2, autosomal mondo_mondo_0011546_medgen_c1415817_omim_605376_orphanet_450 MONDO:MONDO:0011546,MedGen:C1415817,OMIM:605376,Orphanet:450 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP92 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP44 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP44 CFAP44-related disorder cfap44_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP43 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP418 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Hypertrophic cardiomyopathy 18 mondo_mondo_0013475_medgen_c3151265_omim_613874 MONDO:MONDO:0013475,MedGen:C3151265,OMIM:613874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP76 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Occipital encephalocele human_phenotype_ontology_hp_0002085_human_phenotype_ontology_hp_0007051_human_phenotype_ontology_hp_0007357_mondo_mondo_0017080_medgen_c0014067_orphanet_268823 Human_Phenotype_Ontology:HP:0002085,Human_Phenotype_Ontology:HP:0007051,Human_Phenotype_Ontology:HP:0007357,MONDO:MONDO:0017080,MedGen:C0014067,Orphanet:268823 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Meckel syndrome, type 6 mondo_mondo_0012848_medgen_c2676790_omim_612284_orphanet_564 MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Meckel syndrome, type 3 mondo_mondo_0011821_medgen_c1846357_omim_607361_orphanet_564 MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP135 CEP135-related disorder cep135_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP120 CEP120-related disorder cep120_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP112 Spermatogenic failure 44 mondo_mondo_0033622_medgen_c5436678_omim_619044 MONDO:MONDO:0033622,MedGen:C5436678,OMIM:619044 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 CEP104-related disorder cep104_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CECR2 CECR2-related neurodevelopmental disorder cecr2_related_neurodevelopmental_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEBPA Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEACAM16 Hearing loss, autosomal recessive 113 mondo_mondo_0032732_medgen_c5193079_omim_618410 MONDO:MONDO:0032732,MedGen:C5193079,OMIM:618410 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDON Holoprosencephaly 11 mondo_mondo_0013642_medgen_c3280215_omim_614226_orphanet_2162 MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Lip and oral cavity carcinoma mondo_mondo_0023644_medgen_c0220641 MONDO:MONDO:0023644,MedGen:C0220641 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1C CDKN1C-related disorder cdkn1c_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1B Neuroendocrine neoplasm human_phenotype_ontology_hp_0100634_mondo_mondo_0019496_medgen_c0206754_orphanet_877 Human_Phenotype_Ontology:HP:0100634,MONDO:MONDO:0019496,MedGen:C0206754,Orphanet:877 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK5RAP2 CDK5RAP2-related disorder cdk5rap2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDIN1 Congenital dyserythropoietic anemia type type 1B mondo_mondo_0014285_medgen_c3810185_omim_615631_orphanet_98869 MONDO:MONDO:0014285,MedGen:C3810185,OMIM:615631,Orphanet:98869 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Macular dystrophy, retinal, 5 mondo_mondo_0700381_medgen_c5829994 MONDO:MONDO:0700381,MedGen:C5829994 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 Hypotrichosis with juvenile macular dystrophy hypotrichosis_with_juvenile_macular_dystrophy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 autosomal recessive CDH23-related disorders autosomal_recessive_cdh23_related_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Monogenic hearing loss monogenic_hearing_loss . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 Arrhythmogenic right ventricular dysplasia, familial, 14 mondo_mondo_0030062_medgen_c5394505_omim_618920 MONDO:MONDO:0030062,MedGen:C5394505,OMIM:618920 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Cleft lip with or without cleft palate medgen_c0810364_orphanet_1991 MedGen:C0810364,Orphanet:1991 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDCA7 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD79B Agammaglobulinemia 6, autosomal recessive mondo_mondo_0012987_medgen_c3150207_omim_612692 MONDO:MONDO:0012987,MedGen:C3150207,OMIM:612692 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD70 Severe combined immunodeficiency due to CD70 deficiency mondo_mondo_0034054_medgen_c5568559_omim_618261_orphanet_538958 MONDO:MONDO:0034054,MedGen:C5568559,OMIM:618261,Orphanet:538958 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD59 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD55 CD55-related disorder cd55_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD151 RAPH BLOOD GROUP SYSTEM medgen_c1867341_omim_179620 MedGen:C1867341,OMIM:179620 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNO condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Angioosteohypertrophic syndrome mondo_mondo_0007864_mesh_d007715_medgen_c0022739_omim_149000_orphanet_2346 MONDO:MONDO:0007864,MeSH:D007715,MedGen:C0022739,OMIM:149000,Orphanet:2346 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNF Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 mondo_mondo_0030875_medgen_c5436884_omim_619141 MONDO:MONDO:0030875,MedGen:C5436884,OMIM:619141 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCM2 Cerebral cavernous malformation human_phenotype_ontology_hp_0033522_mondo_mondo_0000820_medgen_c2919945_omim_116860_orphanet_221061 Human_Phenotype_Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860,Orphanet:221061 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Polydactyly human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Homocystinuria, pyridoxine-nonresponsive medgen_c4017308 MedGen:C4017308 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBLIF condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBLB Autoimmune disease, multisystem, infantile-onset, 3 mondo_mondo_0957388_medgen_c5830600_omim_620430 MONDO:MONDO:0957388,MedGen:C5830600,OMIM:620430 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAVIN1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CATSPER1 Spermatogenic failure 7 mondo_mondo_0013070_medgen_c2751811_omim_612997_orphanet_276234 MONDO:MONDO:0013070,MedGen:C2751811,OMIM:612997,Orphanet:276234 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASZ1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Familial hypoparathyroidism mondo_mondo_0016390_medgen_c1832648_omim_ps146200_orphanet_2238 MONDO:MONDO:0016390,MedGen:C1832648,OMIM:PS146200,Orphanet:2238 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP10 Non-Hodgkin lymphoma human_phenotype_ontology_hp_0012539_mondo_mondo_0018908_medgen_c0024305_orphanet_547 Human_Phenotype_Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Developmental disorder medgen_c0008073 MedGen:C0008073 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARMIL2 Combined immunodeficiency human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARMIL2 CARMIL2-related disorder carmil2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN5 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAP2 Cardiomyopathy, dilated, 2I mondo_mondo_0957545_medgen_c5830685_omim_620462 MONDO:MONDO:0957545,MedGen:C5830685,OMIM:620462 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMSAP1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2A Intellectual disability, autosomal recessive 63 mondo_mondo_0054861_medgen_c4748167_omim_618095 MONDO:MONDO:0054861,MedGen:C4748167,OMIM:618095 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM3 Long QT syndrome 16 mondo_mondo_0032915_medgen_c5394068_omim_618782 MONDO:MONDO:0032915,MedGen:C5394068,OMIM:618782 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAD Infantile epileptic dyskinetic encephalopathy mondo_mondo_0018226_medgen_c4552072_orphanet_364063 MONDO:MONDO:0018226,MedGen:C4552072,Orphanet:364063 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C9 C9-related disorder c9_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C8B C8B-related disorder c8b_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C7 C7-related disorder c7_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QTNF5 Late-onset retinal degeneration mondo_mondo_0011579_medgen_c1854065_omim_605670_orphanet_67042 MONDO:MONDO:0011579,MedGen:C1854065,OMIM:605670,Orphanet:67042 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1GALT1C1 Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature mondo_mondo_0957495_medgen_c5829585_omim_301110 MONDO:MONDO:0957495,MedGen:C5829585,OMIM:301110 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 CHRNE-related disorder chrne_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF43 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF71 Cardiomyopathy, dilated, 1QQ mondo_mondo_0979239_medgen_c6012742_omim_621251 MONDO:MONDO:0979239,MedGen:C6012742,OMIM:621251 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1B Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1 Microcephaly 30, primary, autosomal recessive mondo_mondo_0859342_medgen_c5774280_omim_620183 MONDO:MONDO:0859342,MedGen:C5774280,OMIM:620183 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 BRIP1-associated familial cancer predisposition brip1_associated_familial_cancer_predisposition . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Malignant tumor of pancreas mondo_mondo_0009831_medgen_c0346647 MONDO:MONDO:0009831,MedGen:C0346647 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Triple-negative breast cancer medgen_c3539878 MedGen:C3539878 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Prostate cancer, hereditary, 1 mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BORCS8 Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities mondo_mondo_0975837_medgen_c5975477_omim_620987 MONDO:MONDO:0975837,MedGen:C5975477,OMIM:620987 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BOLA3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1B Brachydactyly type A1D mondo_mondo_0014798_medgen_c4225183_omim_616849_orphanet_93388 MONDO:MONDO:0014798,MedGen:C4225183,OMIM:616849,Orphanet:93388 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLVRA Hyperbiliverdinemia mondo_mondo_0013595_medgen_c3279964_omim_614156_orphanet_276405 MONDO:MONDO:0013595,MedGen:C3279964,OMIM:614156,Orphanet:276405 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 BLTP1-related disorder bltp1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLM Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Neuronopathy, distal hereditary motor, autosomal dominant mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BGN X-linked spondyloepimetaphyseal dysplasia mondo_mondo_0010248_medgen_c1848097_omim_300106_orphanet_93349 MONDO:MONDO:0010248,MedGen:C1848097,OMIM:300106,Orphanet:93349 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Neurodegeneration with brain iron accumulation 9 mondo_mondo_0958012_medgen_c5882740_omim_620669 MONDO:MONDO:0958012,MedGen:C5882740,OMIM:620669 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 BEST1-related dominant retinopathy mondo_mondo_0700238_medgen_cn375913 MONDO:MONDO:0700238,MedGen:CN375913 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A BCL11A-related BAFopathy bcl11a_related_bafopathy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 Mucosa-associated lymphoma mondo_mondo_0007650_medgen_c0242647_omim_137245_orphanet_52417 MONDO:MONDO:0007650,MedGen:C0242647,OMIM:137245,Orphanet:52417 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 MALE GERM CELL TUMOR, SOMATIC medgen_c3276200 MedGen:C3276200 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAM BLOOD GROUP--LUTHERAN NULL medgen_c4017284 MedGen:C4017284 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAZ2B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 BAG3-related disorder bag3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D2 Joubert syndrome 34 mondo_mondo_0800383_medgen_c4539386 MONDO:MONDO:0800383,MedGen:C4539386 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GAT1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GAT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 mondo_mondo_0014120_medgen_c3809042_omim_615287_orphanet_899 MONDO:MONDO:0014120,MedGen:C3809042,OMIM:615287,Orphanet:899 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT7 Spondylodysplastic Ehlers-Danlos syndrome mondo_mondo_0034021_medgen_c5680154_orphanet_536471 MONDO:MONDO:0034021,MedGen:C5680154,Orphanet:536471 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1 mondo_mondo_0020682_medgen_c4552003_omim_130070 MONDO:MONDO:0020682,MedGen:C4552003,OMIM:130070 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALNT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GLCT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GAT3 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_without_congenital_heart_defects . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 B3GALT6-related disorder b3galt6_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 Al-Gazali syndrome mondo_mondo_0012282_medgen_c1836121_omim_609465 MONDO:MONDO:0012282,MedGen:C1836121,OMIM:609465 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN1 Craniometadiaphyseal osteosclerosis with hip dysplasia mondo_mondo_0957832_medgen_c5882710_omim_620558 MONDO:MONDO:0957832,MedGen:C5882710,OMIM:620558 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVPR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVIL Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 AUTS2-related disorder auts2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX ATR-X-related syndrome mondo_mondo_0016980_medgen_cn257940 MONDO:MONDO:0016980,MedGen:CN257940 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Renal tubulopathies renal_tubulopathies . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Distal renal tubular acidosis human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 ATP6V1B1-related disorder atp6v1b1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1A Autosomal recessive cutis laxa type 2D mondo_mondo_0027451_medgen_c4479409_omim_617403 MONDO:MONDO:0027451,MedGen:C4479409,OMIM:617403 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A4 Distal renal tubular acidosis human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A2 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5PO Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 mondo_mondo_0957255_medgen_c5830482_omim_620359 MONDO:MONDO:0957255,MedGen:C5830482,OMIM:620359 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5MK Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 mondo_mondo_0032869_medgen_c5231461_omim_618683 MONDO:MONDO:0032869,MedGen:C5231461,OMIM:618683 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5ME Retinitis pigmentosa 40 mondo_mondo_0013429_medgen_c3151107_omim_613801_orphanet_791 MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5MC3 Dystonia, early-onset, and/or spastic paraplegia mondo_mondo_0859215_medgen_c5562051_omim_619681 MONDO:MONDO:0859215,MedGen:C5562051,OMIM:619681 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 X-linked progressive cerebellar ataxia mondo_mondo_0010547_medgen_c0796205_omim_302500_orphanet_1175 MONDO:MONDO:0010547,MedGen:C0796205,OMIM:302500,Orphanet:1175 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Aldosterone-producing adrenal cortex adenoma mondo_mondo_0016505_medgen_c1706762_orphanet_231625 MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A2 Acrokeratosis verruciformis of Hopf mondo_mondo_0007048_medgen_c0265971_omim_101900_orphanet_79151 MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900,Orphanet:79151 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Oculogyric crisis human_phenotype_ontology_hp_0010553_mondo_mondo_0000483_medgen_c0085637 Human_Phenotype_Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Hemiplegia human_phenotype_ontology_hp_0002301_mondo_mondo_0001170_medgen_c0018991 Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A1 Aldosterone-producing adrenal cortex adenoma mondo_mondo_0016505_medgen_c1706762_orphanet_231625 MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM T-cell prolymphocytic leukemia mondo_mondo_0019468_medgen_c2363142_orphanet_86871 MONDO:MONDO:0019468,MedGen:C2363142,Orphanet:86871 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL3 Neuropathy, hereditary sensory, type 1F mondo_mondo_0014286_medgen_c3810194_omim_615632_orphanet_36386 MONDO:MONDO:0014286,MedGen:C3810194,OMIM:615632,Orphanet:36386 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATF6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATF6 Achromatopsia human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATAD1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPRV1 Autosomal dominant lamellar ichthyosis mondo_mondo_0007812_medgen_c0432304_omim_146750 MONDO:MONDO:0007812,MedGen:C0432304,OMIM:146750 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASNS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASNS Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASL Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC1 ASCC1-related disorder ascc1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX epileptic encephalopathy, early infanitle, 1 epileptic_encephalopathy_early_infanitle_1 . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX X-linked ARX-related disorders x_linked_arx_related_disorders . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSK Mucopolysaccharidosis, type 10 mondo_mondo_0030524_medgen_c5562064_omim_619698_orphanet_662216 MONDO:MONDO:0030524,MedGen:C5562064,OMIM:619698,Orphanet:662216 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSB Metachromatic leukodystrophy mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA ARYLSULFATASE A PSEUDODEFICIENCY medgen_c4017091 MedGen:C4017091 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARR3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARR3 ARR3-related disorder arr3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARNT2 Webb-Dattani syndrome mondo_mondo_0014404_medgen_c4014708_omim_615926 MONDO:MONDO:0014404,MedGen:C4014708,OMIM:615926 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC5 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC12 Spermatogenic failure 90 mondo_mondo_0958242_medgen_c5935587_omim_620744 MONDO:MONDO:0958242,MedGen:C5935587,OMIM:620744 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL2BP Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL13B condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Severe combined immunodeficiency due to DCLRE1C deficiency mondo_mondo_0011225_medgen_c1865370_omim_602450_orphanet_275 MONDO:MONDO:0011225,MedGen:C1865370,OMIM:602450,Orphanet:275 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Coffin-Siris syndrome 1 mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Coffin-Siris syndrome mondo_mondo_0015452_medgen_c0265338_omim_ps135900_orphanet_1465 MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP6 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP35 condition not provided condition_not_provided MedGen:CN169374 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP31 Adams-Oliver syndrome 1 mondo_mondo_0024506_medgen_c4551482_omim_100300_orphanet_974 MONDO:MONDO:0024506,MedGen:C4551482,OMIM:100300,Orphanet:974 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARG1 ARG1-related disorder arg1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES developmental_delay_impaired_speech_behavioral_abnormalities_and_seizures . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 ARFGEF1-related disorder arfgef1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 condition not provided condition_not_provided .|MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Lipoprotein glomerulopathy mondo_mondo_0012725_medgen_c2673196_omim_611771_orphanet_329481 MONDO:MONDO:0012725,MedGen:C2673196,OMIM:611771,Orphanet:329481 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 Familial visceral amyloidosis, Ostertag type mondo_mondo_0007099_medgen_c0268389_omim_105200_orphanet_85450 MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC2 APC2-related disorder apc2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Periampullary adenoma mondo_mondo_0000488_medgen_cn068444 MONDO:MONDO:0000488,MedGen:CN068444 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Familial colorectal cancer mondo_mondo_0023113_medgen_cn280943 MONDO:MONDO:0023113,MedGen:CN280943 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5B1 Macular dystrophy with or without extraocular features macular_dystrophy_with_or_without_extraocular_features . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP2S1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP2S1 Familial hypocalciuric hypercalcemia 3 mondo_mondo_0010926_medgen_c1833372_omim_600740_orphanet_101050_orphanet_405 MONDO:MONDO:0010926,MedGen:C1833372,OMIM:600740,Orphanet:101050,Orphanet:405 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP2S1 AP2S1-related disorder ap2s1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO3 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKS6 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis mondo_mondo_0032681_medgen_c5193033_omim_618331 MONDO:MONDO:0032681,MedGen:C5193033,OMIM:618331 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK1 Spherocytosis human_phenotype_ontology_hp_0004444_human_phenotype_ontology_hp_0004816_medgen_c0553720 Human_Phenotype_Ontology:HP:0004444,Human_Phenotype_Ontology:HP:0004816,MedGen:C0553720 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK1 SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE medgen_c4017275 MedGen:C4017275 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANAPC1 Rothmund-Thomson syndrome type 1 mondo_mondo_0016368_medgen_c5231433_omim_618625_orphanet_221008 MONDO:MONDO:0016368,MedGen:C5231433,OMIM:618625,Orphanet:221008 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD3 Erythrocyte AMP deaminase deficiency medgen_c2752073_omim_612874_orphanet_45 MedGen:C2752073,OMIM:612874,Orphanet:45 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMN condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMER1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMER1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMELX Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALX1 Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome mondo_mondo_0013271_medgen_c3150706_omim_613456_orphanet_306542 MONDO:MONDO:0013271,MedGen:C3150706,OMIM:613456,Orphanet:306542 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK1 Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome mondo_mondo_0013999_medgen_c4749914_omim_614979_orphanet_313800 MONDO:MONDO:0013999,MedGen:C4749914,OMIM:614979,Orphanet:313800 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 ALOXE3-related disorder aloxe3_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B Leukoencephalopathy with calcifications and cysts mondo_mondo_0013803_medgen_c3281200_omim_614561_orphanet_542310 MONDO:MONDO:0013803,MedGen:C3281200,OMIM:614561,Orphanet:542310 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG6 ALG6-related disorder alg6_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG12 ALG12-related disorder alg12_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 ALG1-related disorder alg1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDOB Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH5A1 ALDH5A1-related disorder aldh5a1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH1A3 Isolated anophthalmia-microphthalmia syndrome mondo_mondo_0016764_medgen_c5679828_orphanet_2542 MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 ALDH18A1-related disorder aldh18a1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT1 Cowden syndrome 6 mondo_mondo_0014048_medgen_c3554519_omim_615109_orphanet_201 MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109,Orphanet:201 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AK9 Spermatogenic failure 89 mondo_mondo_0958206_medgen_c5882752_omim_620705 MONDO:MONDO:0958206,MedGen:C5882752,OMIM:620705 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AK2 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 AIPL1-related disorder aipl1_related_disorder MedGen:CN239169 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIMP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIMP1 AIMP1-related disorder aimp1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHR Foveal hypoplasia 3 mondo_mondo_0975805_medgen_c5975405_omim_620958 MONDO:MONDO:0975805,MedGen:C5975405,OMIM:620958 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Joubert syndrome with ocular defect mondo_mondo_0016364_medgen_c4274118_orphanet_220493 MONDO:MONDO:0016364,MedGen:C4274118,Orphanet:220493 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Sleep apnea human_phenotype_ontology_hp_0010535_mondo_mondo_0005296_medgen_c0037315 Human_Phenotype_Ontology:HP:0010535,MONDO:MONDO:0005296,MedGen:C0037315 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 AHDC1-related disorder ahdc1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTPBP1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTPBP1 Aplasia/Hypoplasia of the cerebellum human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Idiopathic generalized epilepsy mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG6 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY6 Lethal congenital contracture syndrome 8 mondo_mondo_0014570_medgen_c4225385_omim_616287 MONDO:MONDO:0014570,MedGen:C4225385,OMIM:616287 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY5 Dyskinesia with orofacial involvement, autosomal recessive mondo_mondo_0030625_medgen_c5562036_omim_619647 MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS3 Hennekam lymphangiectasia-lymphedema syndrome 3 mondo_mondo_0032564_medgen_c4748408_omim_618154 MONDO:MONDO:0032564,MedGen:C4748408,OMIM:618154 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS19 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Hereditary factor VIII deficiency disease mondo_mondo_0010602_medgen_c0019069_omim_306700_orphanet_98878 MONDO:MONDO:0010602,MedGen:C0019069,OMIM:306700,Orphanet:98878 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Intrinsic cardiomyopathy mondo_mondo_0000591_medgen_cn305117 MONDO:MONDO:0000591,MedGen:CN305117 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction mondo_mondo_0800347_medgen_c4225649 MONDO:MONDO:0800347,MedGen:C4225649 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL9 Spermatogenic failure 53 mondo_mondo_0030989_medgen_c5543253_omim_619258 MONDO:MONDO:0030989,MedGen:C5543253,OMIM:619258 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 ACTG2-related disorder actg2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Becker nevus syndrome mondo_mondo_0011500_medgen_c1858042_omim_604919_orphanet_64755 MONDO:MONDO:0011500,MedGen:C1858042,OMIM:604919,Orphanet:64755 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Familial aortopathy familial_aortopathy MedGen:CN078214 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 ACTA2-related disorder acta2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Nemaline myopathy 3, autosomal dominant or recessive nemaline_myopathy_3_autosomal_dominant_or_recessive MedGen:CN187050 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSL4 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACP5 condition not provided condition_not_provided MedGen:C3661900 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACO2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACO2 ACO2-related disorder aco2_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACBD6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACBD5 Retinal dystrophy with leukodystrophy mondo_mondo_0030026_medgen_c5394315_omim_618863 MONDO:MONDO:0030026,MedGen:C5394315,OMIM:618863 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAT1 ACAT1-related disorder acat1_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Monogenic short statue monogenic_short_statue . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADSB ACADSB-related disorder acadsb_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Chronic myelogenous leukemia, BCR-ABL1 positive human_phenotype_ontology_hp_0005506_human_phenotype_ontology_hp_0005544_mondo_mondo_0011996_mesh_d015464_medgen_c0279543_omim_608232_orphanet_521 Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 ABCC9-related disorder abcc9_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB6 Microphthalmia, isolated, with coloboma 7 mondo_mondo_0013783_medgen_c3281027_omim_614497_orphanet_98938 MONDO:MONDO:0013783,MedGen:C3281027,OMIM:614497,Orphanet:98938 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA5 Gingival fibromatosis-hypertrichosis syndrome mondo_mondo_0007610_medgen_c1851120_omim_135400_orphanet_2026 MONDO:MONDO:0007610,MedGen:C1851120,OMIM:135400,Orphanet:2026 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Macular degeneration human_phenotype_ontology_hp_0000608_human_phenotype_ontology_hp_0007694_mondo_mondo_0003004_medgen_c0024437 Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Generalized choriocapillaris dystrophy generalized_choriocapillaris_dystrophy . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 Interstitial lung disease 2 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA12 Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 ABCA1-related disorder abca1_related_disorder MedGen:CN239173 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Trichothiodystrophy 8, nonphotosensitive mondo_mondo_0030517_medgen_c5562057_omim_619691 MONDO:MONDO:0030517,MedGen:C5562057,OMIM:619691 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS AAAS-related disorder aaas_related_disorder . 3 3 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM7 Spermatogenic failure 71 mondo_mondo_0030787_medgen_c5676963_omim_619831 MONDO:MONDO:0030787,MedGen:C5676963,OMIM:619831 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM7 Ovarian dysgenesis 10 mondo_mondo_0030736_medgen_c5676966_omim_619834 MONDO:MONDO:0030736,MedGen:C5676966,OMIM:619834 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM6 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features mondo_mondo_0060642_medgen_c4693405_omim_617865 MONDO:MONDO:0060642,MedGen:C4693405,OMIM:617865 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSCAN10 ZSCAN10 Deficiency zscan10_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSCAN10 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSCAN10 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZRSR2 Orofaciodigital syndrome 21 mondo_mondo_0975827_medgen_c5974875_omim_301132 MONDO:MONDO:0975827,MedGen:C5974875,OMIM:301132 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP1 ZP1-related disorder zp1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNHIT3 PEHO syndrome mondo_mondo_0009841_medgen_c1850055_omim_260565_orphanet_2836_orphanet_99807 MONDO:MONDO:0009841,MedGen:C1850055,OMIM:260565,Orphanet:2836,Orphanet:99807 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNFX1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF668 marked facial dysmorphism marked_facial_dysmorphism . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF668 Progressive microcephaly human_phenotype_ontology_hp_0000253_medgen_c1850456 Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF668 Profound global developmental delay human_phenotype_ontology_hp_0012736_medgen_c3553450 Human_Phenotype_Ontology:HP:0012736,MedGen:C3553450 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF668 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies mondo_mondo_0859350_medgen_c5774288_omim_620194 MONDO:MONDO:0859350,MedGen:C5774288,OMIM:620194 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF668 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF462 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF454 Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF423 Joubert syndrome 19 mondo_mondo_0800363_medgen_c3553846 MONDO:MONDO:0800363,MedGen:C3553846 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF407 Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies mondo_mondo_0859198_medgen_c5561998_omim_619557 MONDO:MONDO:0859198,MedGen:C5561998,OMIM:619557 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF148 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND8 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMPSTE24 ZMPSTE24-related disorder zmpste24_related_disorder MedGen:CN239425 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMIZ1 ZMIZ1-related disorder zmiz1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC3 ZIC3-related disorder zic3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC1 Craniosynostosis 6 mondo_mondo_0014705_medgen_c4225269_omim_616602_orphanet_672985 MONDO:MONDO:0014705,MedGen:C4225269,OMIM:616602,Orphanet:672985 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 RDH12-related disorder rdh12_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFPM2 ZFPM2-related disorder zfpm2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFPM2 Double outlet right ventricle human_phenotype_ontology_hp_0001719_mondo_mondo_0018089_medgen_c0013069_orphanet_3426 Human_Phenotype_Ontology:HP:0001719,MONDO:MONDO:0018089,MedGen:C0013069,Orphanet:3426 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFP36L2 Oocyte maturation defect 13 mondo_mondo_0859330_medgen_c5774268_omim_620154 MONDO:MONDO:0859330,MedGen:C5774268,OMIM:620154 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFC3H1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 Posterior polymorphous corneal dystrophy human_phenotype_ontology_hp_0007915_mondo_mondo_0020364_medgen_c0339284_omim_ps122000_orphanet_98973 Human_Phenotype_Ontology:HP:0007915,MONDO:MONDO:0020364,MedGen:C0339284,OMIM:PS122000,Orphanet:98973 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC9 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC16 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZC4H2 Wieacker-Wolff syndrome (spectrum) mondo_mondo_0025445_medgen_cn294724_omim_ps314580 MONDO:MONDO:0025445,MedGen:CN294724,OMIM:PS314580 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB25 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 ZBTB20-related disorder zbtb20_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZAP70 Combined immunodeficiency human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG YWHAG-related disorder ywhag_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset mondo_mondo_0024189_medgen_cn228418_omim_ps616263 MONDO:MONDO:0024189,MedGen:CN228418,OMIM:PS616263 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XYLT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC4 XRCC4-related disorder xrcc4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPR1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC XPC-related disorder xpc_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPA Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_omim_ps278700_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,OMIM:PS278700,Orphanet:910 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP XIAP-related disorder xiap_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Early Infantile Epileptic Encephalopathy, Autosomal Recessive early_infantile_epileptic_encephalopathy_autosomal_recessive . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 WT1-related Wilms tumor wt1_related_wilms_tumor . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN WRN-related disorder wrn_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT9B Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT4 SERKAL syndrome mondo_mondo_0012734_medgen_c2678492_omim_611812_orphanet_139466 MONDO:MONDO:0012734,MedGen:C2678492,OMIM:611812,Orphanet:139466 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT2B condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10B Tooth agenesis, selective, 8 mondo_mondo_0014901_medgen_c4310730_omim_617073_orphanet_99798 MONDO:MONDO:0014901,MedGen:C4310730,OMIM:617073,Orphanet:99798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10A Ectodermal dysplasia WNT10A related mondo_mondo_0100358_medgen_cn305516 MONDO:MONDO:0100358,MedGen:CN305516 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10A Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WIPI2 Intellectual developmental disorder with short stature and variable skeletal anomalies mondo_mondo_0032759_medgen_c5193105_omim_618453 MONDO:MONDO:0032759,MedGen:C5193105,OMIM:618453 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WHRN Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Optic neuropathy human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Autosomal dominant and autosomal recessive WFS1-related disorders autosomal_dominant_and_autosomal_recessive_wfs1_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 WDR81-related disorder wdr81_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR73 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 Renal tubulopathies renal_tubulopathies . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 Renal tubular acidosis, distal, 4, with hemolytic anemia mondo_mondo_0012700_medgen_c5436235_omim_611590_orphanet_93610 MONDO:MONDO:0012700,MedGen:C5436235,OMIM:611590,Orphanet:93610 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR5 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 X-linked cerebral-cerebellar-coloboma syndrome syndrome mondo_mondo_0010464_medgen_c3275487_omim_300864_orphanet_163961 MONDO:MONDO:0010464,MedGen:C3275487,OMIM:300864,Orphanet:163961 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 WDR45-related disorder wdr45_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Optic atrophy 2 mondo_mondo_0010698_medgen_c1839576_omim_311050_orphanet_98890 MONDO:MONDO:0010698,MedGen:C1839576,OMIM:311050,Orphanet:98890 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR4 WDR4-related disorder wdr4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR4 Microcephaly, growth deficiency, seizures, and brain malformations mondo_mondo_0032690_medgen_c5193042_omim_618346 MONDO:MONDO:0032690,MedGen:C5193042,OMIM:618346 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR26 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Type IV short rib polydactyly syndrome mondo_mondo_0010024_medgen_c0432198_omim_269860_orphanet_93268 MONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860,Orphanet:93268 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Saldino-Mainzer syndrome mondo_mondo_0009964_medgen_c1849437_omim_266920_orphanet_140969 MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Renal dysplasia and retinal aplasia mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDPCP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WBP11 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC5 WASHC5-related disorder washc5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS THROMBOCYTOPENIA, X-LINKED, INTERMITTENT medgen_c1839164 MedGen:C1839164 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC DeSanto-Shinawi syndrome mondo_mondo_0018760_medgen_c4225239_orphanet_466943 MONDO:MONDO:0018760,MedGen:C4225239,Orphanet:466943 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWA3B Spinocerebellar ataxia, autosomal recessive 22 mondo_mondo_0014845_medgen_c4310781_omim_616948 MONDO:MONDO:0014845,MedGen:C4310781,OMIM:616948 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 VSX2-related Microphthalmia vsx2_related_microphthalmia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 Microphthalmia, cataracts, and iris abnormalities medgen_c1864722 MedGen:C1864722 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 Anophthalmia-microphthalmia syndrome medgen_c5680330_orphanet_98555 MedGen:C5680330,Orphanet:98555 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS35 Parkinson disease 17 mondo_mondo_0013625_medgen_c3280133_omim_614203_orphanet_411602 MONDO:MONDO:0013625,MedGen:C3280133,OMIM:614203,Orphanet:411602 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Small hand human_phenotype_ontology_hp_0200055_medgen_c0575802 Human_Phenotype_Ontology:HP:0200055,MedGen:C0575802 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Short foot human_phenotype_ontology_hp_0001764_human_phenotype_ontology_hp_0001766_human_phenotype_ontology_hp_0001773_human_phenotype_ontology_hp_0001778_human_phenotype_ontology_hp_0008135_medgen_c1848673 Human_Phenotype_Ontology:HP:0001764,Human_Phenotype_Ontology:HP:0001766,Human_Phenotype_Ontology:HP:0001773,Human_Phenotype_Ontology:HP:0001778,Human_Phenotype_Ontology:HP:0008135,MedGen:C1848673 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Recurrent aphthous stomatitis human_phenotype_ontology_hp_0011107_mondo_mondo_0005318_medgen_c2937365 Human_Phenotype_Ontology:HP:0011107,MONDO:MONDO:0005318,MedGen:C2937365 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Progressive visual loss human_phenotype_ontology_hp_0000529_human_phenotype_ontology_hp_0000560_human_phenotype_ontology_hp_0007735_human_phenotype_ontology_hp_0007753_human_phenotype_ontology_hp_0007967_medgen_c1839364 Human_Phenotype_Ontology:HP:0000529,Human_Phenotype_Ontology:HP:0000560,Human_Phenotype_Ontology:HP:0007735,Human_Phenotype_Ontology:HP:0007753,Human_Phenotype_Ontology:HP:0007967,MedGen:C1839364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Optic disc pallor human_phenotype_ontology_hp_0000543_human_phenotype_ontology_hp_0001148_human_phenotype_ontology_hp_0001484_medgen_c0554970 Human_Phenotype_Ontology:HP:0000543,Human_Phenotype_Ontology:HP:0001148,Human_Phenotype_Ontology:HP:0001484,MedGen:C0554970 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Mild hearing impairment human_phenotype_ontology_hp_0012712_medgen_c4022758 Human_Phenotype_Ontology:HP:0012712,MedGen:C4022758 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Joint laxity human_phenotype_ontology_hp_0001380_human_phenotype_ontology_hp_0001383_human_phenotype_ontology_hp_0001388_human_phenotype_ontology_hp_0002771_medgen_c0086437 Human_Phenotype_Ontology:HP:0001380,Human_Phenotype_Ontology:HP:0001383,Human_Phenotype_Ontology:HP:0001388,Human_Phenotype_Ontology:HP:0002771,MedGen:C0086437 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B High myopia human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Decreased total neutrophil count human_phenotype_ontology_hp_0001875_human_phenotype_ontology_hp_0005515_human_phenotype_ontology_hp_0005533_mondo_mondo_0001475_medgen_c0853697 Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS11 Hypomyelinating leukodystrophy 12 mondo_mondo_0014732_medgen_c4225247_omim_616683_orphanet_466934 MONDO:MONDO:0014732,MedGen:C4225247,OMIM:616683,Orphanet:466934 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA12 Congenital disorders of glycosylation type II congenital_disorders_of_glycosylation_type_ii MedGen:CN234782 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VIPAS39 Arthrogryposis, renal dysfunction, and cholestasis 1 mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VIM Cataract 30 mondo_mondo_0007286_medgen_c3805411_omim_116300_orphanet_91492_orphanet_98984_orphanet_98992 MONDO:MONDO:0007286,MedGen:C3805411,OMIM:116300,Orphanet:91492,Orphanet:98984,Orphanet:98992 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Papillary renal cell carcinoma type 1 human_phenotype_ontology_hp_0011797_medgen_c1336839_omim_605074_orphanet_47044 Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Pancreatic cysts human_phenotype_ontology_hp_0001737_medgen_c0030283 Human_Phenotype_Ontology:HP:0001737,MedGen:C0030283 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Inherited phaeochromocytoma and paraganglioma excluding NF1 inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Cerebellar hemangioblastoma human_phenotype_ontology_hp_0006761_human_phenotype_ontology_hp_0006880_mondo_mondo_0003901_medgen_c1332900 Human_Phenotype_Ontology:HP:0006761,Human_Phenotype_Ontology:HP:0006880,MONDO:MONDO:0003901,MedGen:C1332900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VEGFC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VEGFC Lymphatic malformation 4 mondo_mondo_0014393_medgen_c4747769_omim_615907_orphanet_79452 MONDO:MONDO:0014393,MedGen:C4747769,OMIM:615907,Orphanet:79452 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP VCP-related disorder vcp_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCL condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCAN Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAPB condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAPB Amyotrophic lateral sclerosis type 8 mondo_mondo_0012077_medgen_c1837728_omim_608627_orphanet_803 MONDO:MONDO:0012077,MedGen:C1837728,OMIM:608627,Orphanet:803 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAC14 Yunis-Varon syndrome mondo_mondo_0008995_medgen_c1857663_omim_216340_orphanet_3472 MONDO:MONDO:0008995,MedGen:C1857663,OMIM:216340,Orphanet:3472 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP53 USP53-related disorder usp53_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP48 Hearing loss, autosomal dominant 85 mondo_mondo_0859366_medgen_c5774302_omim_620227 MONDO:MONDO:0859366,MedGen:C5774302,OMIM:620227 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP45 Leber congenital amaurosis 19 mondo_mondo_0032794_medgen_c5193139_omim_618513 MONDO:MONDO:0032794,MedGen:C5193139,OMIM:618513 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP19 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Retinal degeneration human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Congenital sensorineural hearing impairment human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G Deafness medgen_c0011053 MedGen:C0011053 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRFS1 Propionic acidemia human_phenotype_ontology_hp_0003571_mondo_mondo_0011628_medgen_c0268579_omim_606054_orphanet_35 Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRFS1 Lactic acidosis human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRFS1 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCC2 Mitochondrial complex III deficiency nuclear type 7 mondo_mondo_0014356_medgen_c4014408_omim_615824 MONDO:MONDO:0014356,MedGen:C4014408,OMIM:615824 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 High anterior hairline human_phenotype_ontology_hp_0009890_medgen_c3276036 Human_Phenotype_Ontology:HP:0009890,MedGen:C3276036 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Frontal bossing human_phenotype_ontology_hp_0000254_human_phenotype_ontology_hp_0000333_human_phenotype_ontology_hp_0001358_human_phenotype_ontology_hp_0001359_human_phenotype_ontology_hp_0002007_medgen_c0221354 Human_Phenotype_Ontology:HP:0000254,Human_Phenotype_Ontology:HP:0000333,Human_Phenotype_Ontology:HP:0001358,Human_Phenotype_Ontology:HP:0001359,Human_Phenotype_Ontology:HP:0002007,MedGen:C0221354 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC79 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC45B condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC45A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMPS condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFSP2 Hip dysplasia, Beukes type mondo_mondo_0007726_medgen_c1840572_omim_142669_orphanet_2114 MONDO:MONDO:0007726,MedGen:C1840572,OMIM:142669,Orphanet:2114 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFSP2 Developmental and epileptic encephalopathy 106 mondo_mondo_0031052_medgen_c5774212_omim_620028 MONDO:MONDO:0031052,MedGen:C5774212,OMIM:620028 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFM1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBTF UBTF-related disorder ubtf_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBQLN2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA5 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence U2AF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYRP1 Albinism human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Slow decrease in visual acuity human_phenotype_ontology_hp_0007652_human_phenotype_ontology_hp_0007924_medgen_c1853141 Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Ocular albinism human_phenotype_ontology_hp_0001107_human_phenotype_ontology_hp_0007745_human_phenotype_ontology_hp_0007837_mondo_mondo_0017304_mesh_d016117_medgen_c0078917_orphanet_284804 Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Hypopigmentation of the skin human_phenotype_ontology_hp_0001010_human_phenotype_ontology_hp_0005589_human_phenotype_ontology_hp_0007604_human_phenotype_ontology_hp_0007622_mondo_mondo_0019290_medgen_c0162835_orphanet_79376 Human_Phenotype_Ontology:HP:0001010,Human_Phenotype_Ontology:HP:0005589,Human_Phenotype_Ontology:HP:0007604,Human_Phenotype_Ontology:HP:0007622,MONDO:MONDO:0019290,MedGen:C0162835,Orphanet:79376 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Horizontal nystagmus human_phenotype_ontology_hp_0000666_medgen_c0271385 Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Foveal hypoplasia human_phenotype_ontology_hp_0007750_mondo_mondo_0044203_medgen_c2673946_omim_ps136520 Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Elevated circulating hepatic transaminase concentration human_phenotype_ontology_hp_0001411_human_phenotype_ontology_hp_0002910_human_phenotype_ontology_hp_0003143_human_phenotype_ontology_hp_0003156_human_phenotype_ontology_hp_0003293_human_phenotype_ontology_hp_0006567_human_phenotype_ontology_hp_0006578_human_phenotype_ontology_hp_0008267_human_phenotype_ontology_hp_0008342_medgen_c0235996 Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C0235996 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Choroidal neovascularization human_phenotype_ontology_hp_0011506_mondo_mondo_0810000_medgen_c0600518 Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYMP TYMP-related disorder tymp_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYMP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TXNL4A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TXNL4A TXNL4A-related disorder txnl4a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TXNDC15 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK mitochondrial hepatopathy medgen_c1328348 MedGen:C1328348 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis mondo_mondo_0011835_medgen_c1843851_omim_607459_orphanet_70595 MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Perrault syndrome mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 Common craniosynostosis syndromes common_craniosynostosis_syndromes . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUSC3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUFT1 Woolly hair-skin fragility syndrome mondo_mondo_0957307_medgen_c1843292_omim_620415_orphanet_293165 MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP6 Microcephaly and chorioretinopathy with or without intellectual disability microcephaly_and_chorioretinopathy_with_or_without_intellectual_disability MedGen:CN233046 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP2 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures mondo_mondo_0032893_medgen_c5231486_omim_618737 MONDO:MONDO:0032893,MedGen:C5231486,OMIM:618737 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4B Leber congenital amaurosis with early-onset deafness mondo_mondo_0060650_medgen_c4693498_omim_617879 MONDO:MONDO:0060650,MedGen:C4693498,OMIM:617879 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2B Tubulinopathy mondo_mondo_0100153_medgen_cn850169 MONDO:MONDO:0100153,MedGen:CN850169 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB1 TUBB1-related disorder tubb1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB1 Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA3D Keratoconus 9 mondo_mondo_0054771_medgen_c4693660_omim_617928 MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Hereditary amyloidosis mondo_mondo_0018634_mesh_d028226_medgen_c0740340_orphanet_444116 MONDO:MONDO:0018634,MeSH:D028226,MedGen:C0740340,Orphanet:444116 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA TTPA-related disorder ttpa_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA CHD7-related CHARGE syndrome mondo_mondo_1010178_medgen_cn380413_omim_214800 MONDO:MONDO:1010178,MedGen:CN380413,OMIM:214800 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Waddling gait human_phenotype_ontology_hp_0002515_medgen_c0231712 Human_Phenotype_Ontology:HP:0002515,MedGen:C0231712 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Titinopathy titinopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Third degree atrioventricular block human_phenotype_ontology_hp_0001709_mondo_mondo_0000468_medgen_c0151517 Human_Phenotype_Ontology:HP:0001709,MONDO:MONDO:0000468,MedGen:C0151517 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN TTN-related cardiomyopathy ttn_related_cardiomyopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Proximal lower limb amyotrophy human_phenotype_ontology_hp_0003748_human_phenotype_ontology_hp_0008956_human_phenotype_ontology_hp_0008974_medgen_c1836767 Human_Phenotype_Ontology:HP:0003748,Human_Phenotype_Ontology:HP:0008956,Human_Phenotype_Ontology:HP:0008974,MedGen:C1836767 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Left ventricular noncompaction 2 mondo_mondo_0012285_medgen_c1836118_omim_609470_orphanet_54260 MONDO:MONDO:0012285,MedGen:C1836118,OMIM:609470,Orphanet:54260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Decreased patellar reflex human_phenotype_ontology_hp_0011808_medgen_c3277184 Human_Phenotype_Ontology:HP:0011808,MedGen:C3277184 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTLL5 TTLL5-related disorder ttll5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTI2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTI1 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC7A Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC29 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Type IV short rib polydactyly syndrome mondo_mondo_0010024_medgen_c0432198_omim_269860_orphanet_93268 MONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860,Orphanet:93268 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Renal dysplasia and retinal aplasia mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Infantile nephronophthisis mondo_mondo_0011190_medgen_c1865872_omim_602088_orphanet_655_orphanet_93591 MONDO:MONDO:0011190,MedGen:C1865872,OMIM:602088,Orphanet:655,Orphanet:93591 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSR2 FGD1-related disorder fgd1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPYL1 Sudden infant death-dysgenesis of the testes syndrome mondo_mondo_0012124_medgen_c1837371_omim_608800_orphanet_168593 MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800,Orphanet:168593 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR TSPEAR-related disorder of tooth and hair follicle morphogenesis tspear_related_disorder_of_tooth_and_hair_follicle_morphogenesis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis ectodermal_dysplasia_14_hair_tooth_type_with_hypohidrosis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 TSEN54-related disorder tsen54_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Methylmalonic aciduria and homocystinuria type cblD mondo_mondo_0010185_medgen_c1848552_omim_277410_orphanet_622_orphanet_79283 MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN34 Pontocerebellar hypoplasia type 2C mondo_mondo_0012891_medgen_c2676465_omim_612390_orphanet_2524 MONDO:MONDO:0012891,MedGen:C2676465,OMIM:612390,Orphanet:2524 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN15 Pontocerebellar hypoplasia, type 2F mondo_mondo_0014874_medgen_c4310757_omim_617026_orphanet_2524 MONDO:MONDO:0014874,MedGen:C4310757,OMIM:617026,Orphanet:2524 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Polycystic kidney disease, adult type mondo_mondo_0008263_medgen_c3149841_omim_173900 MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Cortical tubers human_phenotype_ontology_hp_0009717_medgen_c1968959 Human_Phenotype_Ontology:HP:0009717,MedGen:C1968959 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Cortical tubers human_phenotype_ontology_hp_0009717_medgen_c1968959 Human_Phenotype_Ontology:HP:0009717,MedGen:C1968959 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRRAP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRRAP Hearing loss, autosomal dominant 75 mondo_mondo_0032911_medgen_c5394059_omim_618778 MONDO:MONDO:0032911,MedGen:C5394059,OMIM:618778 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 TRPV4-related bone disorder mondo_mondo_0018240_medgen_c5680977_orphanet_364820 MONDO:MONDO:0018240,MedGen:C5680977,Orphanet:364820 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Trichorhinophalangeal syndrome mondo_mondo_0017951_medgen_c0265255_omim_ps190350_orphanet_324764 MONDO:MONDO:0017951,MedGen:C0265255,OMIM:PS190350,Orphanet:324764 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Langer-Giedion syndrome mondo_mondo_0007874_medgen_c0023003_omim_150230_orphanet_502 MONDO:MONDO:0007874,MedGen:C0023003,OMIM:150230,Orphanet:502 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM7 condition not provided condition_not_provided . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM7 Intestinal hypomagnesemia 1 mondo_mondo_0011176_medgen_c1865974_omim_602014_orphanet_30924 MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM4 Erythrokeratodermia variabilis et progressiva 6 mondo_mondo_0032801_medgen_c5193144_omim_618531 MONDO:MONDO:0032801,MedGen:C5193144,OMIM:618531 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMU Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT10A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIT1 TRIT1-related disorder trit1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIT1 TRIT1 Deficiency trit1_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP4 TRIP4-related disorder trip4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP4 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome mondo_mondo_0014896_medgen_c4310736_omim_617066_orphanet_486815 MONDO:MONDO:0014896,MedGen:C4310736,OMIM:617066,Orphanet:486815 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP4 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 TRIP12-related disorder trip12_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP11 TRIP11-related disorder trip11_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIOBP Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Autosomal recessive nonsyndromic hearing loss 28 mondo_mondo_0012355_medgen_c1853276_omim_609823_orphanet_90636 MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Autosomal dominant TRIO-related disorders autosomal_dominant_trio_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM63 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM63 Cardiomyopathy, familial hypertrophic, 31 mondo_mondo_0979573_medgen_c6012754_omim_621270 MONDO:MONDO:0979573,MedGen:C6012754,OMIM:621270 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM37 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Chilblain lupus mondo_mondo_0019557_medgen_c4551515_orphanet_90280 MONDO:MONDO:0019557,MedGen:C4551515,Orphanet:90280 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Aicardi-Goutieres syndrome 1, autosomal dominant medgen_c3150315 MedGen:C3150315 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRDN TRDN-related disorder trdn_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRDN Catecholaminergic polymorphic ventricular tachycardia mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 TRAPPC9-related disorder trappc9_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC6B TRAPPC6B-related disorder trappc6b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC12 TRAPPC12-related disorder trappc12_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC12 Progressive childhood encephalopathy progressive_childhood_encephalopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 23 mondo_mondo_0029136_medgen_c4748327_omim_618138_orphanet_565837 MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC11 Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF7 TRAF7-related disorder traf7_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3IP1 Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3 Immunodeficiency 132b mondo_mondo_0976228_medgen_c6012695_omim_621096 MONDO:MONDO:0976228,MedGen:C6012695,OMIM:621096 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPRKB Galloway-Mowat syndrome 5 mondo_mondo_0033009_medgen_c4540274_omim_617731 MONDO:MONDO:0033009,MedGen:C4540274,OMIM:617731 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 TPM1-related disorder tpm1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Squamous cell carcinoma human_phenotype_ontology_hp_0002860_mondo_mondo_0005096_mesh_d002294_medgen_c0007137 Human_Phenotype_Ontology:HP:0002860,MONDO:MONDO:0005096,MeSH:D002294,MedGen:C0007137 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Sarcoma human_phenotype_ontology_hp_0100242_mondo_mondo_0005089_medgen_c1261473 Human_Phenotype_Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Familial ovarian cancer mondo_mondo_0016248_medgen_c5679802 MONDO:MONDO:0016248,MedGen:C5679802 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Choroid plexus carcinoma human_phenotype_ontology_hp_0030392_mondo_mondo_0016718_medgen_c0431109_orphanet_251899 Human_Phenotype_Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:251899 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Breast adenocarcinoma mondo_mondo_0004988_medgen_c0858252 MONDO:MONDO:0004988,MedGen:C0858252 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 B-cell chronic lymphocytic leukemia human_phenotype_ontology_hp_0005550_human_phenotype_ontology_hp_0006734_human_phenotype_ontology_hp_0006760_mondo_mondo_0004948_mesh_d015451_medgen_c0023434_omim_151400_orphanet_67038 Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Astrocytoma, anaplastic mondo_mondo_0016684_medgen_c0334579_orphanet_251589 MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:251589 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 ADRENOCORTICAL CARCINOMA, PEDIATRIC medgen_c1859973 MedGen:C1859973 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1A TOR1A-related disorder tor1a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1A Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP3A Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOMT Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOMM7 Garg-Mishra progeroid syndrome mondo_mondo_0957953_medgen_c5882717_omim_620601 MONDO:MONDO:0957953,MedGen:C5882717,OMIM:620601 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOGARAM1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOE1 TOE1-related disorder toe1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOE1 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB CYP21A2-related disorder cyp21a2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY medgen_c2936858_omim_201910 MedGen:C2936858,OMIM:201910 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNRC6B Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNPO2 TNPO2-related disorder tnpo2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT3 Sheldon-Hall syndrome mondo_mondo_0011128_medgen_c1834523_orphanet_1147 MONDO:MONDO:0011128,MedGen:C1834523,Orphanet:1147 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 TNNT2-related disorder tnnt2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT1 Nemaline myopathy 5C, autosomal dominant mondo_mondo_0957284_medgen_c5830549_omim_620389 MONDO:MONDO:0957284,MedGen:C5830549,OMIM:620389 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNC2 Congenital myopathy 15 mondo_mondo_0859335_medgen_c5774273_omim_620161 MONDO:MONDO:0859335,MedGen:C5774273,OMIM:620161 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF13C Immunodeficiency, common variable, 4 mondo_mondo_0013284_medgen_c3150739_omim_613494_orphanet_1572_orphanet_696925 MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572,Orphanet:696925 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF13B Immunodeficiency, common variable, 1 mondo_mondo_0011864_medgen_c3149378_omim_607594_orphanet_1572_orphanet_695183 MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594,Orphanet:1572,Orphanet:695183 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF13B Common variable immunodeficiency mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF11A Familial expansile osteolysis mondo_mondo_0008275_medgen_c0432292_omim_174810_orphanet_85195 MONDO:MONDO:0008275,MedGen:C0432292,OMIM:174810,Orphanet:85195 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF10B Squamous cell carcinoma of the head and neck mondo_mondo_0010150_mesh_d000077195_medgen_c1168401_omim_275355_orphanet_67037 MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNC condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMTC4 Hearing loss, autosomal recessive 122 mondo_mondo_0958228_medgen_c5935576_omim_620714 MONDO:MONDO:0958228,MedGen:C5935576,OMIM:620714 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS15 TMPRSS15-related disorder tmprss15_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPPE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMLHE Epsilon-trimethyllysine hydroxylase deficiency mondo_mondo_0010469_medgen_c3550875_omim_300872 MONDO:MONDO:0010469,MedGen:C3550875,OMIM:300872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMIE Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMIE Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM94 Rare syndromic intellectual disability medgen_c5681780_orphanet_102369 MedGen:C5681780,Orphanet:102369 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Multiple renal cysts human_phenotype_ontology_hp_0005562_medgen_c0431718 Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Iris coloboma human_phenotype_ontology_hp_0000612_mondo_mondo_0020356_medgen_c0240063_orphanet_98944 Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Enlarged kidney human_phenotype_ontology_hp_0000105_medgen_c0542518 Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Anhydramnios human_phenotype_ontology_hp_0025700_medgen_c0730379 Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM63B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM53 TMEM53-related craniotubular dysplasia tmem53_related_craniotubular_dysplasia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM53 Craniotubular dysplasia, Ikegawa type mondo_mondo_0859226_medgen_c5575335_omim_619727 MONDO:MONDO:0859226,MedGen:C5575335,OMIM:619727 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 Arrhythmogenic right ventricular dysplasia 5 mondo_mondo_0011459_medgen_c1858379_omim_604400 MONDO:MONDO:0011459,MedGen:C1858379,OMIM:604400 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM237 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM231 TMEM231-related disorder tmem231_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM231 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM218 Meckel syndrome, type 4 mondo_mondo_0012626_medgen_c1970161_omim_611134_orphanet_564 MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM218 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 Retinitis pigmentosa 98 mondo_mondo_0975840_medgen_c5975495_omim_620996 MONDO:MONDO:0975840,MedGen:C5975495,OMIM:620996 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM127 Inherited phaeochromocytoma and paraganglioma excluding NF1 inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126B Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM106B Leukodystrophy, hypomyelinating, 16 mondo_mondo_0054791_medgen_c4693779_omim_617964 MONDO:MONDO:0054791,MedGen:C4693779,OMIM:617964 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR8 INFLTR8 infltr8 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR7 Systemic lupus erythematosus 17 mondo_mondo_0859083_medgen_c5676884_omim_301080 MONDO:MONDO:0859083,MedGen:C5676884,OMIM:301080 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR7 Systemic lupus erythematosus human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR1 Rheumatoid arthritis human_phenotype_ontology_hp_0001370_mondo_mondo_0008383_medgen_c0003873_omim_180300 Human_Phenotype_Ontology:HP:0001370,MONDO:MONDO:0008383,MedGen:C0003873,OMIM:180300 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 TLK2-related disorder tlk2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLCD3B Cone-rod dystrophy 22 mondo_mondo_0030440_medgen_c5561989_omim_619531 MONDO:MONDO:0030440,MedGen:C5561989,OMIM:619531 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TKFC Triokinase and FMN cyclase deficiency syndrome mondo_mondo_0032927_medgen_c5394125_omim_618805 MONDO:MONDO:0032927,MedGen:C5394125,OMIM:618805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TKFC TKFC deficiency tkfc_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TKFC Inborn errors of metabolism mondo_mondo_0019052_medgen_c0025521_orphanet_68367 MONDO:MONDO:0019052,MedGen:C0025521,Orphanet:68367 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TK2 TK2-related disorder tk2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TJP2 Autosomal recessive nonsyndromic hearing loss 4 mondo_mondo_0010933_medgen_c3538946_omim_600791_orphanet_90636 MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TINF2 TINF2-related disorder tinf2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TINF2 Long telomere syndrome long_telomere_syndrome . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMP3 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM8A X-linked agammaglobulinemia mondo_mondo_0010421_medgen_c0221026_omim_300755_orphanet_229717_orphanet_47 MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755,Orphanet:229717,Orphanet:47 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM50 Mitochondrial encephalopathy human_phenotype_ontology_hp_0006789_medgen_c1852373 Human_Phenotype_Ontology:HP:0006789,MedGen:C1852373 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIE1 Lymphatic malformation 11 mondo_mondo_0030316_medgen_c5543614_omim_619401 MONDO:MONDO:0030316,MedGen:C5543614,OMIM:619401 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THG1L THG1L-related disorder thg1l_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THG1L Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THBD Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TH Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM5 Peeling skin syndrome 1 mondo_mondo_0024548_medgen_c5679693_omim_270300_orphanet_263543_orphanet_263553 MONDO:MONDO:0024548,MedGen:C5679693,OMIM:270300,Orphanet:263543,Orphanet:263553 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 Congenital ichthyosiform erythroderma human_phenotype_ontology_hp_0007431_human_phenotype_ontology_hp_0007478_human_phenotype_ontology_hp_0007484_medgen_c0079583 Human_Phenotype_Ontology:HP:0007431,Human_Phenotype_Ontology:HP:0007478,Human_Phenotype_Ontology:HP:0007484,MedGen:C0079583 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Marfan syndrome mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Loeys-Dietz syndrome 1 mondo_mondo_0012212_medgen_c4551955_omim_609192_orphanet_60030 MONDO:MONDO:0012212,MedGen:C4551955,OMIM:609192,Orphanet:60030 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Marfan syndrome mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Familial aortopathy familial_aortopathy MedGen:CN078214 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Corneal dystrophy human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB3 TGFB3-related disorder tgfb3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFE3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A TFAP2A-related disorder tfap2a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAM Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mondo_mondo_0014943_medgen_c4310690_omim_617156 MONDO:MONDO:0014943,MedGen:C4310690,OMIM:617156 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX15 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 TET2-related disorder tet2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 Angioimmunoblastic T-cell lymphoma mondo_mondo_0004977_medgen_c0020981_orphanet_86886 MONDO:MONDO:0004977,MedGen:C0020981,Orphanet:86886 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Short telomere length human_phenotype_ontology_hp_0031413_medgen_c4531138 Human_Phenotype_Ontology:HP:0031413,MedGen:C4531138 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Autosomal recessive dyskeratosis congenita 4 mondo_mondo_0027353_medgen_c3151444 MONDO:MONDO:0027353,MedGen:C3151444 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Aplastic anemia human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Abnormal pulmonary interstitial morphology human_phenotype_ontology_hp_0006513_human_phenotype_ontology_hp_0006530_human_phenotype_ontology_hp_0006547_mondo_mondo_0015925_medgen_c5441745_orphanet_182095 Human_Phenotype_Ontology:HP:0006513,Human_Phenotype_Ontology:HP:0006530,Human_Phenotype_Ontology:HP:0006547,MONDO:MONDO:0015925,MedGen:C5441745,Orphanet:182095 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERB2 Spermatogenic failure 59 mondo_mondo_0030492_medgen_c5562034_omim_619645 MONDO:MONDO:0030492,MedGen:C5562034,OMIM:619645 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENM4 Tremor, hereditary essential, 5 mondo_mondo_0014756_medgen_c4225223_omim_616736 MONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Glaucoma 3, primary infantile, B mondo_mondo_0010968_medgen_c1832977_omim_600975_orphanet_98976 MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Blue rubber bleb nevus mondo_mondo_0007203_medgen_c0346072_omim_112200_orphanet_1059 MONDO:MONDO:0007203,MedGen:C0346072,OMIM:112200,Orphanet:1059 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECRL condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECRL TECRL-related disorder tecrl_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECPR2 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDRD9 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDRD9 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDP1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 mondo_mondo_0011801_medgen_c4759870_omim_607250_orphanet_94124 MONDO:MONDO:0011801,MedGen:C4759870,OMIM:607250,Orphanet:94124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCOF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCN2 TCN2-related disorder tcn2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF7L2 TCF7L2-related neurodevelopmental disorder mondo_mondo_0100525_medgen_cn375563 MONDO:MONDO:0100525,MedGen:CN375563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXA2R Bleeding disorder, platelet-type, 13, susceptibility to mondo_mondo_0800447_medgen_c3279614_omim_614009 MONDO:MONDO:0800447,MedGen:C3279614,OMIM:614009 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Congenital heart disease (variable) medgen_c3805326 MedGen:C3805326 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 TBX4-related disorder tbx4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX2 TBX2-related disorder tbx2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX18 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX15 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX15 Pelviscapular dysplasia mondo_mondo_0009845_medgen_c1850040_omim_260660_orphanet_93333 MONDO:MONDO:0009845,MedGen:C1850040,OMIM:260660,Orphanet:93333 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 Conotruncal anomaly face syndrome medgen_c0795907 MedGen:C0795907 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 TBR1-related disorder tbr1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Gait disturbance human_phenotype_ontology_hp_0001288_human_phenotype_ontology_hp_0006953_medgen_c0575081 Human_Phenotype_Ontology:HP:0001288,Human_Phenotype_Ontology:HP:0006953,MedGen:C0575081 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBP Spinocerebellar ataxia type 17 mondo_mondo_0011781_medgen_c1846707_omim_607136_orphanet_98759 MONDO:MONDO:0011781,MedGen:C1846707,OMIM:607136,Orphanet:98759 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 mondo_mondo_0054754_medgen_c4693542_omim_617900 MONDO:MONDO:0054754,MedGen:C4693542,OMIM:617900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Syndromic Infantile Encephalopathy syndromic_infantile_encephalopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 mondo_mondo_0014071_medgen_c3554638_omim_615181_orphanet_588_orphanet_899 MONDO:MONDO:0014071,MedGen:C3554638,OMIM:615181,Orphanet:588,Orphanet:899 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCD TBCD-related disorder tbcd_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 Alsahan-Harris syndrome mondo_mondo_0979871_medgen_cn379782_omim_621307 MONDO:MONDO:0979871,MedGen:CN379782,OMIM:621307 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D23 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARDBP Motor neuron disease mondo_mondo_0020128_medgen_c0085084_orphanet_98503 MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARDBP FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED medgen_c3148872 MedGen:C3148872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES developmental_delay_without_intellectual_impairment_or_behavioral_abnormalities . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAMM41 Respiratory failure human_phenotype_ontology_hp_0002878_human_phenotype_ontology_hp_0004877_mondo_mondo_0021113_medgen_c1145670 Human_Phenotype_Ontology:HP:0002878,Human_Phenotype_Ontology:HP:0004877,MONDO:MONDO:0021113,MedGen:C1145670 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAMM41 Gastroesophageal reflux human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAMM41 Dysphagia human_phenotype_ontology_hp_0002015_human_phenotype_ontology_hp_0002569_medgen_c0011168 Human_Phenotype_Ontology:HP:0002015,Human_Phenotype_Ontology:HP:0002569,MedGen:C0011168 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAMM41 Bilateral ptosis human_phenotype_ontology_hp_0001488_medgen_c1865916 Human_Phenotype_Ontology:HP:0001488,MedGen:C1865916 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TALDO1 TALDO1-related disorder taldo1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAFAZZIN Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAFAZZIN Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAFAZZIN Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF8 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF6 Alazami-Yuan syndrome mondo_mondo_0014931_medgen_c4310702_omim_617126_orphanet_694946 MONDO:MONDO:0014931,MedGen:C4310702,OMIM:617126,Orphanet:694946 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAC3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Juvenile amyotrophic lateral sclerosis mondo_mondo_0017593_medgen_c3468114_orphanet_300605 MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYK Immunodeficiency 82 with systemic inflammation mondo_mondo_0030308_medgen_c5543581_omim_619381_orphanet_695807 MONDO:MONDO:0030308,MedGen:C5543581,OMIM:619381,Orphanet:695807 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCP2L Premature ovarian failure 24 mondo_mondo_0970995_medgen_c5935624_omim_620840 MONDO:MONDO:0970995,MedGen:C5935624,OMIM:620840 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCP2 Cryptozoospermia human_phenotype_ontology_hp_0030974_medgen_c3279550 Human_Phenotype_Ontology:HP:0030974,MedGen:C3279550 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCE1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCE1 Spermatogenic failure 15 mondo_mondo_0014847_medgen_c4310779_omim_616950 MONDO:MONDO:0014847,MedGen:C4310779,OMIM:616950 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVIL condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVIL Myofibrillar myopathy 10 mondo_mondo_0033620_medgen_c5436656_omim_619040 MONDO:MONDO:0033620,MedGen:C5436656,OMIM:619040 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVBP Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVBP Lower limb spasticity human_phenotype_ontology_hp_0002061_medgen_c1271100 Human_Phenotype_Ontology:HP:0002061,MedGen:C1271100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVBP Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUPT7L Fischer-Zirnsak progeroid syndrome mondo_mondo_0700301_medgen_c6012706_omim_621130 MONDO:MONDO:0700301,MedGen:C6012706,OMIM:621130 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUPT16H condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUOX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUN5 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUGCT Glutaryl-CoA oxidase deficiency mondo_mondo_0009283_medgen_c0342873_omim_231690_orphanet_35706 MONDO:MONDO:0009283,MedGen:C0342873,OMIM:231690,Orphanet:35706 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Joubert syndrome 32 mondo_mondo_0033309_medgen_c4540342_omim_617757 MONDO:MONDO:0033309,MedGen:C4540342,OMIM:617757 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Familial meningioma mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 STXBP2-related disorder stxbp2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX11 Familial hemophagocytic lymphohistiocytosis mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STT3B STT3B-congenital disorder of glycosylation mondo_mondo_0014271_medgen_c2931007_omim_615597_orphanet_370924 MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597,Orphanet:370924 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STT3A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STT3A STT3A-congenital disorder of glycosylation mondo_mondo_0014270_medgen_c5561935_omim_615596_orphanet_370921 MONDO:MONDO:0014270,MedGen:C5561935,OMIM:615596,Orphanet:370921 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC Spermatogenic failure 7 mondo_mondo_0013070_medgen_c2751811_omim_612997_orphanet_276234 MONDO:MONDO:0013070,MedGen:C2751811,OMIM:612997,Orphanet:276234 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRADA Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRA6 STRA6-related disorder stra6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK4 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 STK11-related disorder stk11_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Malignant tumor of testis mondo_mondo_0005447_medgen_c0153594 MONDO:MONDO:0005447,MedGen:C0153594 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Generalized juvenile polyposis/juvenile polyposis coli mondo_mondo_0008276_medgen_c1868081_orphanet_329971 MONDO:MONDO:0008276,MedGen:C1868081,Orphanet:329971 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT4 Disabling pansclerotic morphea of childhood mondo_mondo_0957497_medgen_c3898649_omim_620443 MONDO:MONDO:0957497,MedGen:C3898649,OMIM:620443 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT3 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT3 Hyper-IgE syndrome mondo_mondo_0018037_medgen_c3887645_omim_ps147060_orphanet_331223 MONDO:MONDO:0018037,MedGen:C3887645,OMIM:PS147060,Orphanet:331223 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT1 Chronic mucocutaneous candidiasis human_phenotype_ontology_hp_0002728_human_phenotype_ontology_hp_0005392_mondo_mondo_0015279_medgen_c0006845_omim_ps114580_orphanet_1334 Human_Phenotype_Ontology:HP:0002728,Human_Phenotype_Ontology:HP:0005392,MONDO:MONDO:0015279,MedGen:C0006845,OMIM:PS114580,Orphanet:1334 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAR Syndactyly-telecanthus-anogenital and renal malformations syndrome mondo_mondo_0010408_medgen_c2678045_omim_300707_orphanet_140952 MONDO:MONDO:0010408,MedGen:C2678045,OMIM:300707,Orphanet:140952 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Spermatogenesis maturation arrest human_phenotype_ontology_hp_0031038_medgen_c4477100 Human_Phenotype_Ontology:HP:0031038,MedGen:C4477100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 PRIMARY OVARIAN FAILURE 8 primary_ovarian_failure_8 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSX1 Spermatogenic failure, X-linked, 5 mondo_mondo_0859477_medgen_c5829558_omim_301099 MONDO:MONDO:0859477,MedGen:C5829558,OMIM:301099 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSR4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRY SRY-related disorder sry_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRY 46,XX sex reversal 1 mondo_mondo_0100250_medgen_c2748895_omim_400045 MONDO:MONDO:0100250,MedGen:C2748895,OMIM:400045 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRSF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRPK3 Intellectual developmental disorder, X-linked 114 mondo_mondo_0975828_medgen_c5974891_omim_301134 MONDO:MONDO:0975828,MedGen:C5974891,OMIM:301134 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRP54 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 LOX-related disorder lox_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SREBF1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 SRD5A3-related disorder srd5a3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Autosomal recessive SRD5A3-related disorders autosomal_recessive_srd5a3_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A2 Micropenis human_phenotype_ontology_hp_0000038_human_phenotype_ontology_hp_0000054_medgen_c4551492 Human_Phenotype_Ontology:HP:0000038,Human_Phenotype_Ontology:HP:0000054,MedGen:C4551492 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A2 Differences in sex development differences_in_sex_development . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 Myopathy, distal, with rimmed vacuoles mondo_mondo_0014945_medgen_c5399975_omim_617158 MONDO:MONDO:0014945,MedGen:C5399975,OMIM:617158 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 mondo_mondo_0014640_medgen_c4225326_omim_616437_orphanet_275864_orphanet_275872_orphanet_803 MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437,Orphanet:275864,Orphanet:275872,Orphanet:803 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQOR Sulfide quinone oxidoreductase deficiency mondo_mondo_0030982_medgen_c5543168_omim_619221 MONDO:MONDO:0030982,MedGen:C5543168,OMIM:619221 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA, severe medgen_c5231533 MedGen:C5231533 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Spherocytosis human_phenotype_ontology_hp_0004444_human_phenotype_ontology_hp_0004816_medgen_c0553720 Human_Phenotype_Ontology:HP:0004444,Human_Phenotype_Ontology:HP:0004816,MedGen:C0553720 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Hereditary spherocytosis mondo_mondo_0019350_medgen_c0037889_orphanet_822 MONDO:MONDO:0019350,MedGen:C0037889,Orphanet:822 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Hemolytic anemia human_phenotype_ontology_hp_0001878_human_phenotype_ontology_hp_0001910_human_phenotype_ontology_hp_0004827_human_phenotype_ontology_hp_0004853_human_phenotype_ontology_hp_0004868_human_phenotype_ontology_hp_0005503_mondo_mondo_0003664_medgen_c0002878 Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Familial hemolytic anemia human_phenotype_ontology_hp_0004804_human_phenotype_ontology_hp_0004811_human_phenotype_ontology_hp_0004824_mondo_mondo_0003689_medgen_c0002881 Human_Phenotype_Ontology:HP:0004804,Human_Phenotype_Ontology:HP:0004811,Human_Phenotype_Ontology:HP:0004824,MONDO:MONDO:0003689,MedGen:C0002881 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPPL2A Immunodeficiency 86 mondo_mondo_0030448_medgen_c5561995_omim_619549 MONDO:MONDO:0030448,MedGen:C5561995,OMIM:619549 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOUT1 Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities mondo_mondo_0976265_medgen_c6012710_omim_621154 MONDO:MONDO:0976265,MedGen:C6012710,OMIM:621154 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK5 Increased circulating IgE concentration human_phenotype_ontology_hp_0003212_human_phenotype_ontology_hp_0005382_human_phenotype_ontology_hp_0005418_human_phenotype_ontology_hp_0005433_medgen_c0236175 Human_Phenotype_Ontology:HP:0003212,Human_Phenotype_Ontology:HP:0005382,Human_Phenotype_Ontology:HP:0005418,Human_Phenotype_Ontology:HP:0005433,MedGen:C0236175 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK5 Erythroderma human_phenotype_ontology_hp_0001019_mondo_mondo_0043233_medgen_c0011606 Human_Phenotype_Ontology:HP:0001019,MONDO:MONDO:0043233,MedGen:C0011606 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK1 Tropical pancreatitis mondo_mondo_0011986_medgen_c1842402_omim_608189_orphanet_103918 MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPIDR Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPI1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 SPG11-related spastic paraplegia spg11_related_spastic_paraplegia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Metabolic disease mondo_mondo_0005066_medgen_c0025517 MONDO:MONDO:0005066,MedGen:C0025517 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Juvenile amyotrophic lateral sclerosis mondo_mondo_0017593_medgen_c3468114_orphanet_300605 MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Autosomal recessive SPG11-related disorders autosomal_recessive_spg11_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEG SPEG-related disorder speg_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEG SPEG-related congenital myopathy speg_related_congenital_myopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEF2 SPEF2-related disorder spef2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEF2 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPECC1L Autosomal dominant Opitz G/BBB syndrome autosomal_dominant_opitz_g_bbb_syndrome MedGen:CN032444,Orphanet:2745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 Mild Canavan disease mondo_mondo_0017831_medgen_c4017127_orphanet_314918 MONDO:MONDO:0017831,MedGen:C4017127,Orphanet:314918 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 ASPA-related disorder aspa_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST SPAST-related spastic paraplegia spast_related_spastic_paraplegia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART SPART-related disorder spart_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG8 Short stature with nonspecific skeletal abnormalities mondo_mondo_0975810_medgen_c4225399_omim_ps616255 MONDO:MONDO:0975810,MedGen:C4225399,OMIM:PS616255 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG8 NPR2-related disorder npr2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG8 Monogenic short statue monogenic_short_statue . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG8 Epilepsy, familial focal, with variable foci 2 mondo_mondo_0014924_medgen_c4310709_omim_617116 MONDO:MONDO:0014924,MedGen:C4310709,OMIM:617116 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP6 Amelogenesis imperfecta, IIa 1K mondo_mondo_0031084_medgen_c5774246_omim_620104 MONDO:MONDO:0031084,MedGen:C5774246,OMIM:620104 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP140 Mycobacterium tuberculosis, susceptibility to medgen_c1834752_omim_607948 MedGen:C1834752,OMIM:607948 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP110 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX4 SOX4-related disorder sox4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 SOX2-related disorder sox2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 Anophthalmia human_phenotype_ontology_hp_0000528_human_phenotype_ontology_hp_0001485_human_phenotype_ontology_hp_0007664_medgen_c0003119 Human_Phenotype_Ontology:HP:0000528,Human_Phenotype_Ontology:HP:0001485,Human_Phenotype_Ontology:HP:0007664,MedGen:C0003119 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX11 Coffin-Siris syndrome 1 mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Waardenburg syndrome type 4A mondo_mondo_0010192_medgen_c1848519_omim_277580_orphanet_897 MONDO:MONDO:0010192,MedGen:C1848519,OMIM:277580,Orphanet:897 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Hypogonadism with anosmia mondo_mondo_0018800_medgen_c0162809_orphanet_478 MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Deafness with anatomical inner ear anomalies deafness_with_anatomical_inner_ear_anomalies . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOST Craniodiaphyseal dysplasia, autosomal dominant mondo_mondo_0021021_medgen_c2675746_omim_122860_orphanet_1513 MONDO:MONDO:0021021,MedGen:C2675746,OMIM:122860,Orphanet:1513 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Noonan syndrome 3 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOHLH1 Nonsyndromic hypergonadotropic hypogonadism nonsyndromic_hypergonadotropic_hypogonadism . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOCS1 Systemic lupus erythematosus human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOCS1 Autoimmune thrombocytopenia human_phenotype_ontology_hp_0001936_human_phenotype_ontology_hp_0001973_human_phenotype_ontology_hp_0004806_human_phenotype_ontology_hp_0004829_mondo_mondo_0019098_medgen_c0242584_orphanet_71203 Human_Phenotype_Ontology:HP:0001936,Human_Phenotype_Ontology:HP:0001973,Human_Phenotype_Ontology:HP:0004806,Human_Phenotype_Ontology:HP:0004829,MONDO:MONDO:0019098,MedGen:C0242584,Orphanet:71203 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOCS1 Autoimmune hemolytic anemia human_phenotype_ontology_hp_0001890_mondo_mondo_0020108_medgen_c0002880_omim_205700_orphanet_98375 Human_Phenotype_Ontology:HP:0001890,MONDO:MONDO:0020108,MedGen:C0002880,OMIM:205700,Orphanet:98375 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 SNX14-related disorder snx14_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNUPN condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPA Spliceosomepathy spliceosomepathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNORD118 Meckel syndrome 13 mondo_mondo_0033044_medgen_c4539714_omim_617562 MONDO:MONDO:0033044,MedGen:C4539714,OMIM:617562 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNF8 SNF8-associated disorder snf8_associated_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAPC4 SNAPC4 related condition snapc4_related_condition . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP29 Hypomyelinating leukodystrophy 2 mondo_mondo_0012125_medgen_c1837355_omim_608804_orphanet_280270_orphanet_280282 MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804,Orphanet:280270,Orphanet:280282 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Niemann-pick disease, intermediate, protracted neurovisceral medgen_c2675646 MedGen:C2675646 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Niemann-Pick disease, type C1 mondo_mondo_0009757_medgen_c3179455_omim_257220_orphanet_646 MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMOC2 Dentin dysplasia type I mondo_mondo_0007436_medgen_c0399379_omim_ps125400_orphanet_314721_orphanet_99789 MONDO:MONDO:0007436,MedGen:C0399379,OMIM:PS125400,Orphanet:314721,Orphanet:99789 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMO Basal cell carcinoma, somatic medgen_c3838465 MedGen:C3838465 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC3 SMC3-related disorder smc3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Wiedemann-Steiner syndrome mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A SMC1A-related cohesinopathy smc1a_related_cohesinopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Small for gestational age human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 SMARCAL1-related disorder smarcal1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Familial atrioventricular septal defect mondo_mondo_0020290_medgen_cn029142_omim_ps606215_orphanet_98722 MONDO:MONDO:0020290,MedGen:CN029142,OMIM:PS606215,Orphanet:98722 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Disproportionate short-trunk short stature human_phenotype_ontology_hp_0001524_human_phenotype_ontology_hp_0003500_human_phenotype_ontology_hp_0003521_human_phenotype_ontology_hp_0008923_medgen_c1846435 Human_Phenotype_Ontology:HP:0001524,Human_Phenotype_Ontology:HP:0003500,Human_Phenotype_Ontology:HP:0003521,Human_Phenotype_Ontology:HP:0008923,MedGen:C1846435 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Decreased body weight human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAD1 Basan syndrome mondo_mondo_0007507_medgen_c0406707_omim_129200_orphanet_1658 MONDO:MONDO:0007507,MedGen:C0406707,OMIM:129200,Orphanet:1658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 SMARCA5-associated neurodevelopmental disorder smarca5_associated_neurodevelopmental_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Coffin-Siris syndrome mondo_mondo_0015452_medgen_c0265338_omim_ps135900_orphanet_1465 MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Anophthalmia-microphthalmia syndrome medgen_c5680330_orphanet_98555 MedGen:C5680330,Orphanet:98555 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA1 condition not provided condition_not_provided MedGen:CN169374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA1 Non-syndromic X-linked intellectual disability mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Abnormal axial skeleton morphology human_phenotype_ontology_hp_0009121_medgen_c4024586 Human_Phenotype_Ontology:HP:0009121,MedGen:C4024586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 SMAD3-related disorder smad3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 SMAD2-related disorder smad2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 Loeys-Dietz syndrome mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK6 SLITRK6-related disorder slitrk6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK1 Tourette syndrome mondo_mondo_0007661_medgen_c0040517_omim_137580 MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLIT2 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLFN14 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLFN14 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO1B1 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9B1 Wolfram syndrome 2 mondo_mondo_0011502_medgen_c1858028_omim_604928_orphanet_3463 MONDO:MONDO:0011502,MedGen:C1858028,OMIM:604928,Orphanet:3463 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A7 Intellectual developmental disorder, X-linked 108 mondo_mondo_0026723_medgen_c5193009_omim_301024 MONDO:MONDO:0026723,MedGen:C5193009,OMIM:301024 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A8 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A14 Retinitis pigmentosa 68 mondo_mondo_0014323_medgen_c3810380_omim_615725_orphanet_791 MONDO:MONDO:0014323,MedGen:C3810380,OMIM:615725,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A14 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A6 Retinal degeneration human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A6 Hypotaurinemic retinal degeneration and cardiomyopathy mondo_mondo_0007777_medgen_c5542181_omim_145350 MONDO:MONDO:0007777,MedGen:C5542181,OMIM:145350 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A5 SLC6A5-related disorder slc6a5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A5 Exaggerated startle response human_phenotype_ontology_hp_0002267_medgen_c1740801 Human_Phenotype_Ontology:HP:0002267,MedGen:C1740801 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A17 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome mondo_mondo_0014559_medgen_c4225395_omim_616269_orphanet_457212 MONDO:MONDO:0014559,MedGen:C4225395,OMIM:616269,Orphanet:457212 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A5 SLC5A5-related disorder slc5a5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A2 SLC52A2-related disorder slc52a2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A3 Short QT syndrome 7 mondo_mondo_0859368_medgen_c5774304_omim_620231 MONDO:MONDO:0859368,MedGen:C5774304,OMIM:620231 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A2 Osteopetrosis, autosomal recessive 9 mondo_mondo_0957262_medgen_c5830487_omim_620366 MONDO:MONDO:0957262,MedGen:C5830487,OMIM:620366 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A10 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Renal tubular acidosis human_phenotype_ontology_hp_0001947_mondo_mondo_0001909_medgen_c0001126 Human_Phenotype_Ontology:HP:0001947,MONDO:MONDO:0001909,MedGen:C0001126 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC40A1 SLC40A1-related disorder slc40a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A4 SLC39A4-related disorder slc39a4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A14 Hyperostosis cranialis interna human_phenotype_ontology_hp_0005890_mondo_mondo_0007765_medgen_c1840404_omim_144755_orphanet_443098 Human_Phenotype_Ontology:HP:0005890,MONDO:MONDO:0007765,MedGen:C1840404,OMIM:144755,Orphanet:443098 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A8 Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis medgen_c4017389 MedGen:C4017389 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A8 Foveal hypoplasia human_phenotype_ontology_hp_0007750_mondo_mondo_0044203_medgen_c2673946_omim_ps136520 Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A8 FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS foveal_hypoplasia_2_with_optic_nerve_misrouting_and_anterior_segment_dysgenesis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35C1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC33A1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC32A1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC32A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC32A1 Generalized epilepsy with febrile seizures plus, type 12 mondo_mondo_0958324_medgen_c5935592_omim_620755 MONDO:MONDO:0958324,MedGen:C5935592,OMIM:620755 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC32A1 Generalized epilepsy with febrile seizures plus mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC32A1 Developmental and epileptic encephalopathy 114 mondo_mondo_0958331_medgen_c5935598_omim_620774 MONDO:MONDO:0958331,MedGen:C5935598,OMIM:620774 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC31A1 Neurodegeneration and seizures due to copper transport defect mondo_mondo_0957211_medgen_c5830385_omim_620306 MONDO:MONDO:0957211,MedGen:C5830385,OMIM:620306 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A7 Ziegler-Huang syndrome mondo_mondo_0957595_medgen_c5882688_omim_620501 MONDO:MONDO:0957595,MedGen:C5882688,OMIM:620501 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A7 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties mondo_mondo_0859295_medgen_c5774228_omim_620070 MONDO:MONDO:0859295,MedGen:C5774228,OMIM:620070 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A5 Severe hydrops fetalis human_phenotype_ontology_hp_0005099_medgen_c1866048 Human_Phenotype_Ontology:HP:0005099,MedGen:C1866048 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A5 Noncompaction cardiomyopathy human_phenotype_ontology_hp_0012817_medgen_c1839832 Human_Phenotype_Ontology:HP:0012817,MedGen:C1839832 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A5 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A5 Hydrops fetalis human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A5 Concentric hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001672_human_phenotype_ontology_hp_0005157_medgen_c0238044 Human_Phenotype_Ontology:HP:0001672,Human_Phenotype_Ontology:HP:0005157,MedGen:C0238044 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A10 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A9 SLC2A9-related disorder slc2a9_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A10 Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A10 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC27A4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A7 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A7 Congenital hypothyroidism human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A3 Intestinal obstruction human_phenotype_ontology_hp_0005214_human_phenotype_ontology_hp_0005239_mondo_mondo_0004565_medgen_c0021843 Human_Phenotype_Ontology:HP:0005214,Human_Phenotype_Ontology:HP:0005239,MONDO:MONDO:0004565,MedGen:C0021843 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 SLC26A2-related skeletal dysplasia mondo_mondo_0100592_medgen_cn379209 MONDO:MONDO:0100592,MedGen:CN379209 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 IDUA-related disorder idua_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A46 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A42 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression mondo_mondo_0032736_medgen_c5193083_omim_618416 MONDO:MONDO:0032736,MedGen:C5193083,OMIM:618416 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A38 SLC25A38-related disorder slc25a38_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A36 Hyperinsulinemic hypoglycemia, familial, 8 mondo_mondo_0859362_medgen_c5774299_omim_620211 MONDO:MONDO:0859362,MedGen:C5774299,OMIM:620211 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A24 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A24 Fontaine progeroid syndrome mondo_mondo_0012853_medgen_c2676780_omim_612289_orphanet_2095 MONDO:MONDO:0012853,MedGen:C2676780,OMIM:612289,Orphanet:2095 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A15 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A10 Mitochondrial DNA depletion syndrome 19 mondo_mondo_0033545_medgen_c5436514_omim_618972 MONDO:MONDO:0033545,MedGen:C5436514,OMIM:618972 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A1 SLC25A1-related disorder slc25a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A1 SLC24A1-related disorder slc24a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A1 Congenital stationary night blindness autosomal dominant 2 mondo_mondo_0008099_medgen_c1876182_omim_163500_orphanet_215 MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A12 SLC22A12-related disorder slc22a12_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A12 Familial renal hypouricemia mondo_mondo_0009071_medgen_c4551590_orphanet_94088 MONDO:MONDO:0009071,MedGen:C4551590,Orphanet:94088 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC20A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A3 Episodic ataxia type 6 mondo_mondo_0012982_medgen_c2675211_omim_612656_orphanet_209967 MONDO:MONDO:0012982,MedGen:C2675211,OMIM:612656,Orphanet:209967 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 COL18A1-related disorder col18a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC18A3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC18A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 SLC16A2-related disorder slc16a2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A12 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A1 Monocarboxylate transporter 1 deficiency, autosomal recessive medgen_c4016683 MedGen:C4016683 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC14A1 SLC14A1-related disorder slc14a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A9 Capillary malformation-arteriovenous malformation 2 mondo_mondo_0020785_medgen_c4748670_omim_618196_orphanet_693912 MONDO:MONDO:0020785,MedGen:C4748670,OMIM:618196,Orphanet:693912 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC10A7 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKOR2 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKOR2 Gait ataxia human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKOR2 Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC3 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX6 Sclerocornea human_phenotype_ontology_hp_0000647_mondo_mondo_0019629_medgen_c1853235_orphanet_91490 Human_Phenotype_Ontology:HP:0000647,MONDO:MONDO:0019629,MedGen:C1853235,Orphanet:91490 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX6 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX5 Branchiootorenal syndrome 2 mondo_mondo_0012575_medgen_c1970479_omim_610896_orphanet_107 MONDO:MONDO:0012575,MedGen:C1970479,OMIM:610896,Orphanet:107 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 SIX1-related disorder six1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIRT4 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIPA1L3 Cataract 45 mondo_mondo_0014799_medgen_c4225182_omim_616851_orphanet_91492 MONDO:MONDO:0014799,MedGen:C4225182,OMIM:616851,Orphanet:91492 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3A SIN3A-related disorder sin3a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIM1 Obesity due to SIM1 deficiency mondo_mondo_0018244_medgen_c5191050_orphanet_369873 MONDO:MONDO:0018244,MedGen:C5191050,Orphanet:369873 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIK3 Spondyloepimetaphyseal dysplasia, Krakow type mondo_mondo_0032571_medgen_c4748455_omim_618162 MONDO:MONDO:0032571,MedGen:C4748455,OMIM:618162 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIGMAR1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHQ1 Neurodevelopmental disorder with dystonia and seizures mondo_mondo_0859258_medgen_c5677004_omim_619922 MONDO:MONDO:0859258,MedGen:C5677004,OMIM:619922 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOX Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHMT2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Schizencephaly human_phenotype_ontology_hp_0010636_mondo_mondo_0010011_medgen_c0266484_omim_269160_orphanet_799 Human_Phenotype_Ontology:HP:0010636,MONDO:MONDO:0010011,MedGen:C0266484,OMIM:269160,Orphanet:799 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHC1 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHARPIN Autoinflammation with episodic fever and immune dysregulation mondo_mondo_0968982_medgen_c5935613_omim_620795 MONDO:MONDO:0968982,MedGen:C5935613,OMIM:620795 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 Rare disease with autism medgen_c5680471_orphanet_180772 MedGen:C5680471,Orphanet:180772 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 SHANK1-related Neurodevelopmental Disorder shank1_related_neurodevelopmental_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3BP2 SH3BP2-related disorder sh3bp2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2D1A X-linked lymphoproliferative syndrome mondo_mondo_0010627_medgen_c0549463_orphanet_2442 MONDO:MONDO:0010627,MedGen:C0549463,Orphanet:2442 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2B3 Primary myelofibrosis mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSM3 Intellectual developmental disorder, autosomal recessive 84 mondo_mondo_0980746_medgen_cn380247_omim_620401 MONDO:MONDO:0980746,MedGen:CN380247,OMIM:620401 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Severely reduced visual acuity human_phenotype_ontology_hp_0001141_human_phenotype_ontology_hp_0007640_human_phenotype_ontology_hp_0007842_human_phenotype_ontology_hp_0007951_human_phenotype_ontology_hp_0008023_medgen_c1301509 Human_Phenotype_Ontology:HP:0001141,Human_Phenotype_Ontology:HP:0007640,Human_Phenotype_Ontology:HP:0007842,Human_Phenotype_Ontology:HP:0007951,Human_Phenotype_Ontology:HP:0008023,MedGen:C1301509 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Neurodegeneration human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Gastrointestinal dysmotility human_phenotype_ontology_hp_0002579_medgen_c1836923 Human_Phenotype_Ontology:HP:0002579,MedGen:C1836923 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Diarrhea human_phenotype_ontology_hp_0002014_medgen_c0011991 Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGPL1 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGMS2 Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia mondo_mondo_0800204_medgen_c5193004 MONDO:MONDO:0800204,MedGen:C5193004 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGMS1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCE SGCE-related disorder sgce_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCD Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCD Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCD Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA SGCA-related disorder sgca_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPC SFTPC-related disorder sftpc_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Moyamoya angiopathy with developmental delay moyamoya_angiopathy_with_developmental_delay . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 KBG syndrome mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Developmental disorder medgen_c0008073 MedGen:C0008073 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Acute megakaryoblastic leukemia without down syndrome mondo_mondo_0018004_medgen_c5679860_orphanet_329469 MONDO:MONDO:0018004,MedGen:C5679860,Orphanet:329469 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B SETD1B-related disorder setd1b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINC1 Tuberous sclerosis 2 mondo_mondo_0013199_medgen_c1860707_omim_613254_orphanet_805 MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINB7 SERPINB7-related disorder serpinb7_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA6 Corticosteroid-binding globulin deficiency mondo_mondo_0012675_medgen_c1852529_omim_611489_orphanet_199247 MONDO:MONDO:0012675,MedGen:C1852529,OMIM:611489,Orphanet:199247 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERAC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPHS1 Ververi-Brady syndrome 2 mondo_mondo_0980726_medgen_cn379793_omim_621325 MONDO:MONDO:0980726,MedGen:CN379793,OMIM:621325 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA3A SEMA3A-related disorder sema3a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON SELENON-related myopathy mondo_mondo_0100100_medgen_cn327047 MONDO:MONDO:0100100,MedGen:CN327047 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SECISBP2 SECISBP2-related disorder secisbp2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC63 Polycystic liver disease 1 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC63 Biliary tract abnormality human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC61A1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC61A1 Immunodeficiency, common variable, 15 mondo_mondo_0958013_medgen_c5882741_omim_620670_orphanet_697417 MONDO:MONDO:0958013,MedGen:C5882741,OMIM:620670,Orphanet:697417 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC24D Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDR9C7 Congenital ichthyosis of skin medgen_c0020758 MedGen:C0020758 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC SDHC-related disorder sdhc_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Paraganglioma human_phenotype_ontology_hp_0002668_human_phenotype_ontology_hp_0002670_human_phenotype_ontology_hp_0003004_mondo_mondo_0000448_medgen_c0030421_omim_ps168000 Human_Phenotype_Ontology:HP:0002668,Human_Phenotype_Ontology:HP:0002670,Human_Phenotype_Ontology:HP:0003004,MONDO:MONDO:0000448,MedGen:C0030421,OMIM:PS168000 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHAF1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCP2 SCP2-related disorder scp2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 SCO2-related disorder sco2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO1 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1G Pseudohypoaldosteronism, type IB1, autosomal recessive mondo_mondo_0009917_medgen_c5774176_omim_264350_orphanet_171876_orphanet_756 MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A SCNN1A-related disorder scnn1a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNM1 Orofaciodigital syndrome 19 mondo_mondo_0859310_medgen_c5774248_omim_620107 MONDO:MONDO:0859310,MedGen:C5774248,OMIM:620107 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Generalized epilepsy with febrile seizures plus mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA cognitive_impairment_without_cerebellar_ataxia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Sinoatrial node disorder mondo_mondo_0000469_medgen_c0428908 MONDO:MONDO:0000469,MedGen:C0428908 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Familial isolated arrhythmogenic right ventricular dysplasia mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4B Atrial fibrillation, familial, 17 mondo_mondo_0800345_medgen_c4013560 MONDO:MONDO:0800345,MedGen:C4013560 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A SCN4A-related myopathy, autosomal recessive mondo_mondo_0100121_medgen_cn294783 MONDO:MONDO:0100121,MedGen:CN294783 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Myotonia fluctuans mondo_mondo_0020481_medgen_c0752355_orphanet_99734 MONDO:MONDO:0020481,MedGen:C0752355,Orphanet:99734 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Acetazolamide-responsive myotonia mondo_mondo_0020483_medgen_c4275008_orphanet_99736 MONDO:MONDO:0020483,MedGen:C4275008,Orphanet:99736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3B Atrial fibrillation, familial, 16 mondo_mondo_0800349_medgen_c4013699 MONDO:MONDO:0800349,MedGen:C4013699 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A benign sporadic infantile epilepsy benign_sporadic_infantile_epilepsy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Malignant migrating partial seizures of infancy mondo_mondo_0017385_medgen_cn262433_orphanet_293181 MONDO:MONDO:0017385,MedGen:CN262433,Orphanet:293181 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Developmental disorder medgen_c0008073 MedGen:C0008073 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Benign familial neonatal-infantile seizures 1 mondo_mondo_0042499_medgen_c4551769_omim_601764_orphanet_306 MONDO:MONDO:0042499,MedGen:C4551769,OMIM:601764,Orphanet:306 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B SCN1B-related disorder scn1b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Atrial fibrillation, familial, 13 mondo_mondo_0014155_medgen_c3809311_omim_615377 MONDO:MONDO:0014155,MedGen:C3809311,OMIM:615377 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Sudden unexplained death in childhood mondo_mondo_1010117_medgen_c3827273 MONDO:MONDO:1010117,MedGen:C3827273 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Generalized epilepsy mondo_mondo_0100574_medgen_c0014548 MONDO:MONDO:0100574,MedGen:C0014548 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Focal-onset seizure human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Febrile seizures, familial, 1 mondo_mondo_0007367_medgen_c1852577_omim_121210 MONDO:MONDO:0007367,MedGen:C1852577,OMIM:121210 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Familial hemiplegic migraine mondo_mondo_0000700_medgen_c0338484_omim_ps141500 MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 SCLT1-related disorder sclt1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 Opsoclonus human_phenotype_ontology_hp_0010543_medgen_c0242567 Human_Phenotype_Ontology:HP:0010543,MedGen:C0242567 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 Hypermetropia human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 Congenital hypothalamic hamartoma syndrome mondo_mondo_0009436_medgen_c5435677_omim_241800 MONDO:MONDO:0009436,MedGen:C5435677,OMIM:241800 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 Astigmatism human_phenotype_ontology_hp_0000483_mondo_mondo_0011284_medgen_c0004106_omim_603047 Human_Phenotype_Ontology:HP:0000483,MONDO:MONDO:0011284,MedGen:C0004106,OMIM:603047 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCARF2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCARB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAMP4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Amyotrophic lateral sclerosis type 1 mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF1 SBF1-related disorder sbf1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Splenomegaly human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Deeply set eye human_phenotype_ontology_hp_0000490_human_phenotype_ontology_hp_0000663_mondo_mondo_0001210_medgen_c0423224 Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Agenesis of permanent teeth human_phenotype_ontology_hp_0000681_human_phenotype_ontology_hp_0006287_human_phenotype_ontology_hp_0006349_human_phenotype_ontology_hp_0008498_medgen_c1290511_omim_206780 Human_Phenotype_Ontology:HP:0000681,Human_Phenotype_Ontology:HP:0006287,Human_Phenotype_Ontology:HP:0006349,Human_Phenotype_Ontology:HP:0008498,MedGen:C1290511,OMIM:206780 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARS2 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome mondo_mondo_0013458_medgen_c3151209_omim_613845_orphanet_363694 MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARS1 Neurodevelopmental disorder with microcephaly, ataxia, and seizures mondo_mondo_0060577_medgen_c4540188_omim_617709 MONDO:MONDO:0060577,MedGen:C4540188,OMIM:617709 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAR1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9L SAMD9L-related disorder samd9l_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9 SAMD9-related disorder samd9_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD8 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD7 Macular dystrophy with or without cone dysfunction mondo_mondo_0958326_medgen_c5935594_omim_620762 MONDO:MONDO:0958326,MedGen:C5935594,OMIM:620762 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL1 Townes-Brocks-branchiootorenal-like syndrome medgen_c1862683 MedGen:C1862683 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG SAG-related disorder sag_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG Oguchi disease-2 mondo_mondo_0013259_medgen_c3150678_omim_613411_orphanet_75382 MONDO:MONDO:0013259,MedGen:C3150678,OMIM:613411,Orphanet:75382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence S1PR2 Autosomal recessive nonsyndromic hearing loss 68 mondo_mondo_0012485_medgen_c1835854_omim_610419_orphanet_90636 MONDO:MONDO:0012485,MedGen:C1835854,OMIM:610419,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Neuromuscular disease, congenital, with uniform type 1 fiber medgen_c2674259 MedGen:C2674259 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Malignant hyperthermia, susceptibility to mondo_mondo_0800188_medgen_c5437603_omim_ps145600 MONDO:MONDO:0800188,MedGen:C5437603,OMIM:PS145600 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RXYLT1 Walker-Warburg congenital muscular dystrophy mondo_mondo_0000171_medgen_c0265221_omim_ps236670_orphanet_899 MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RXFP2 Bilateral cryptorchidism human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUVBL1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Storage pool disease of platelets mondo_mondo_0008495_medgen_c0032197_omim_185050_orphanet_734 MONDO:MONDO:0008495,MedGen:C0032197,OMIM:185050,Orphanet:734 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTTN Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTTN MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES medgen_c4225499 MedGen:C4225499 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Telomere syndrome mondo_mondo_0100137_medgen_c4727832 MONDO:MONDO:0100137,MedGen:C4727832 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Dyskeratosis congenita, autosomal dominant 4 mondo_mondo_0800366_medgen_c3808802 MONDO:MONDO:0800366,MedGen:C3808802 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO2 Tetraamelia syndrome 2 mondo_mondo_0060732_medgen_c4747923_omim_618021 MONDO:MONDO:0060732,MedGen:C4747923,OMIM:618021 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH4A Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH4A RSPH4A-related disorder rsph4a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH3 RSPH3-related disorder rsph3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH1 RSPH1-related disorder rsph1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 RS1-related disorder rs1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRP12 Basal ganglia calcification, idiopathic, 11, autosomal recessive mondo_mondo_0980939_medgen_cn380688_omim_621452 MONDO:MONDO:0980939,MedGen:CN380688,OMIM:621452 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM2B Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM1 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 mondo_mondo_0957993_medgen_c5882731_omim_620647 MONDO:MONDO:0957993,MedGen:C5882731,OMIM:620647 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAGD HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY hypomagnesemia_7_renal_without_dilated_cardiomyopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAGD HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY hypomagnesemia_7_renal_with_dilated_cardiomyopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPUSD3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPSA condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS29 condition not provided condition_not_provided MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS29 Diamond-Blackfan anemia 13 mondo_mondo_0014394_medgen_c4014641_omim_615909_orphanet_124 MONDO:MONDO:0014394,MedGen:C4014641,OMIM:615909,Orphanet:124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS26 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis mondo_mondo_0011639_medgen_c4225411_omim_606164_orphanet_124 MONDO:MONDO:0011639,MedGen:C4225411,OMIM:606164,Orphanet:124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS23 Brachycephaly, trichomegaly, and developmental delay mondo_mondo_0044311_medgen_c4479431_omim_617412 MONDO:MONDO:0044311,MedGen:C4479431,OMIM:617412 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS20 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL35A Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 RPGRIP1-related disorder rpgrip1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS retinitis_pigmentosa_sinorespiratory_infections_and_deafness . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPA1 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 mondo_mondo_0030690_medgen_c5676927_omim_619767 MONDO:MONDO:0030690,MedGen:C5676927,OMIM:619767 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP9 Retinitis pigmentosa 9 mondo_mondo_0008378_medgen_c1867300_omim_180104_orphanet_791 MONDO:MONDO:0008378,MedGen:C1867300,OMIM:180104,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 X-linked retinitis pigmentosa medgen_c0339528 MedGen:C0339528 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 RP1-related recessive retinopathy mondo_mondo_0800399_medgen_cn322605 MONDO:MONDO:0800399,MedGen:CN322605 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROS1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROS1 Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO4 Thoracic aortic aneurysm human_phenotype_ontology_hp_0012727_mondo_mondo_0005396_medgen_c0162872 Human_Phenotype_Ontology:HP:0012727,MONDO:MONDO:0005396,MedGen:C0162872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Pituitary stalk interruption syndrome mondo_mondo_0019828_medgen_c4053775_orphanet_95496 MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Pituitary hormone deficiency, combined or isolated, 8 mondo_mondo_0957208_medgen_c5830375_omim_620303 MONDO:MONDO:0957208,MedGen:C5830375,OMIM:620303 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Bilateral renal agenesis human_phenotype_ontology_hp_0010958_mondo_mondo_0015986_medgen_c1609433_orphanet_1848 Human_Phenotype_Ontology:HP:0010958,MONDO:MONDO:0015986,MedGen:C1609433,Orphanet:1848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU7-1 Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU5B-1 RNU5B-1 related disorder rnu5b_1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC RNU4ATAC-related disorder rnu4atac_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC Hydrocephalus, nonsyndromic, autosomal recessive 1 mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC CLASP1-related disorder clasp1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU12 Ataxia human_phenotype_ontology_hp_0001251_human_phenotype_ontology_hp_0001253_human_phenotype_ontology_hp_0002513_human_phenotype_ontology_hp_0007050_human_phenotype_ontology_hp_0007157_medgen_c0004134 Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MedGen:C0004134 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF31 Immunodeficiency 115 with autoinflammation mondo_mondo_0957981_medgen_c5882724_omim_620632 MONDO:MONDO:0957981,MedGen:C5882724,OMIM:620632 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF220 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy mondo_mondo_0030514_medgen_c5562074_omim_619688 MONDO:MONDO:0030514,MedGen:C5562074,OMIM:619688 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF14 Disorder of development or morphogenesis mondo_mondo_0021147_medgen_c0694457 MONDO:MONDO:0021147,MedGen:C0694457 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF113A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASET2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEL Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B RNASEH2B-related disorder rnaseh2b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMRP Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMRP Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders cartilage_hair_hypoplasia_anauxetic_dysplasia_spectrum_disorders MedGen:CN118832 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND1 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIM Non-syndromic X-linked intellectual disability mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 CEP290-related ciliopathy mondo_mondo_0100451_medgen_cn305601 MONDO:MONDO:0100451,MedGen:CN305601 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPOR2 Autosomal recessive nonsyndromic hearing loss 104 mondo_mondo_0014675_medgen_c4225298_omim_616515_orphanet_90636 MONDO:MONDO:0014675,MedGen:C4225298,OMIM:616515,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIC3 Retinal dystrophy and obesity mondo_mondo_0014522_medgen_c4015424_omim_616188_orphanet_791 MONDO:MONDO:0014522,MedGen:C4015424,OMIM:616188,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOBTB2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHAG Rh mod blood group phenotype medgen_c1292175 MedGen:C1292175 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGS9BP Bradyopsia human_phenotype_ontology_hp_0030511_mondo_mondo_0012033_medgen_c1842073_omim_ps608415_orphanet_75374 Human_Phenotype_Ontology:HP:0030511,MONDO:MONDO:0012033,MedGen:C1842073,OMIM:PS608415,Orphanet:75374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGS9 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGS9 Prolonged electroretinal response suppression 1 mondo_mondo_0958180_medgen_c5829874_omim_608415 MONDO:MONDO:0958180,MedGen:C5829874,OMIM:608415 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGS9 Bradyopsia human_phenotype_ontology_hp_0030511_mondo_mondo_0012033_medgen_c1842073_omim_ps608415_orphanet_75374 Human_Phenotype_Ontology:HP:0030511,MONDO:MONDO:0012033,MedGen:C1842073,OMIM:PS608415,Orphanet:75374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXAP condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXANK RFXANK-related disorder rfxank_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX5 RFX5-related disorder rfx5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX3 RFX3-related disorder rfx3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFWD3 condition not provided condition_not_provided MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REV3L condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE medgen_c4016286 MedGen:C4016286 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Inherited phaeochromocytoma and paraganglioma excluding NF1 inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REST Fibromatosis, gingival, 1 mondo_mondo_0007609_medgen_c4551558_omim_135300_orphanet_2024 MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300,Orphanet:2024 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REST Autosomal dominant nonsyndromic hearing loss 27 mondo_mondo_0012902_medgen_c3887929_omim_612431_orphanet_90635 MONDO:MONDO:0012902,MedGen:C3887929,OMIM:612431,Orphanet:90635 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELT Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN RELN-related disorder reln_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELA RELA-related disorder rela_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REL Immunodeficiency 92 mondo_mondo_0030498_medgen_c5562039_omim_619652_orphanet_697394 MONDO:MONDO:0030498,MedGen:C5562039,OMIM:619652,Orphanet:697394 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP2 Spastic paraplegia 72b, autosomal recessive mondo_mondo_0957958_medgen_c5882720_omim_620606 MONDO:MONDO:0957958,MedGen:C5882720,OMIM:620606 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 REEP1-related disorder reep1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 RECQL4-related spectrum disorders recql4_related_spectrum_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REC8 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REC114 Oocyte maturation defect 10 mondo_mondo_0030925_medgen_c5436938_omim_619176 MONDO:MONDO:0030925,MedGen:C5436938,OMIM:619176 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH5 Retinitis punctata albescens mondo_mondo_0018877_medgen_c1405854_orphanet_52427 MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH5 Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Retinitis pigmentosa 53 mondo_mondo_0800348_medgen_c3150208 MONDO:MONDO:0800348,MedGen:C3150208 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RD3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RD3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCC1 Infection-induced acute-onset axonal neuropathy mondo_mondo_0979881_medgen_cn379897_omim_621333 MONDO:MONDO:0979881,MedGen:CN379897,OMIM:621333 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCBTB1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCBTB1 Coats disease mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBSN Kariminejad neurodevelopmental syndrome mondo_mondo_0975795_medgen_c5975371_omim_620937 MONDO:MONDO:0975795,MedGen:C5975371,OMIM:620937 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Bilateral microphthalmos human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP3 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBMX Severe X-linked intellectual disability, Gustavson type mondo_mondo_0010661_medgen_c0795965_omim_309555_orphanet_3078 MONDO:MONDO:0010661,MedGen:C0795965,OMIM:309555,Orphanet:3078 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM8A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 RBM20-related disorder rbm20_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Dilated cardiomyopathy 1S mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM12 Schizophrenia 19 mondo_mondo_0033312_medgen_c4539944_omim_617629 MONDO:MONDO:0033312,MedGen:C4539944,OMIM:617629 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBFOX2 RBFOX2-related congenital heart disorder mondo_mondo_0100557_medgen_cn377745 MONDO:MONDO:0100557,MedGen:CN377745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBFOX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBBP8 RBBP8-related disorder rbbp8_related_disorder MedGen:CN239300 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBBP8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Lynch syndrome 4 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAX2 Retinitis pigmentosa 95 mondo_mondo_0859308_medgen_c5774244_omim_620102 MONDO:MONDO:0859308,MedGen:C5774244,OMIM:620102 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAX2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASGRP2 RASGRP2-related disorder rasgrp2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Basal cell carcinoma, somatic medgen_c3838465 MedGen:C3838465 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Arteriovenous malformation human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARB Intellectual disability, autosomal dominant 48 mondo_mondo_0030913_medgen_c4540321_omim_617751_orphanet_500159 MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Hydrops fetalis human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAP1GDS1 Alfadhel syndrome mondo_mondo_0958001_medgen_c5882735_omim_620655 MONDO:MONDO:0958001,MedGen:C5882735,OMIM:620655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Progressive sclerosing poliodystrophy mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Non-syndromic oligodontia non_syndromic_oligodontia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Mitochondrial DNA depletion syndrome 4b mondo_mondo_0013350_medgen_c3150914_omim_613662_orphanet_298 MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALGAPA1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Common variable immunodeficiency mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Ovarian carcinoma human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Deleterious RAD51D Gene Mutation medgen_c4329712 MedGen:C4329712 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Hereditary site-specific ovarian cancer syndrome mondo_mondo_0016249_medgen_cn278678 MONDO:MONDO:0016249,MedGen:CN278678 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51 RAD51-related disorder rad51_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21 RAD21-related disorder rad21_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RACGAP1 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive mondo_mondo_0030711_medgen_c5676940_omim_619789 MONDO:MONDO:0030711,MedGen:C5676940,OMIM:619789 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC3 RAC3-related disorder rac3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC3 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC2 Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia mondo_mondo_0033555_medgen_c5436550_omim_618987 MONDO:MONDO:0033555,MedGen:C5436550,OMIM:618987 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Pelizaeus-Merzbacher disease, connatal medgen_c4016483 MedGen:C4016483 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Pelizaeus-Merzbacher disease, atypical medgen_c0751915 MedGen:C0751915 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B PLP1-related disorder plp1_related_disorder MedGen:CN378767 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB7A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB34 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB18 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH2 QRICH2-related disorder qrich2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM McArdle disease, mild medgen_c4017156 MedGen:C4017156 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGL PYGL-related disorder pygl_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR2 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PXDN condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PXDN Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Polyhydramnios human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Aplasia/Hypoplasia of the cerebellum human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Ankle flexion contracture human_phenotype_ontology_hp_0004985_human_phenotype_ontology_hp_0006403_human_phenotype_ontology_hp_0006466_medgen_c1837407 Human_Phenotype_Ontology:HP:0004985,Human_Phenotype_Ontology:HP:0006403,Human_Phenotype_Ontology:HP:0006466,MedGen:C1837407 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Anencephaly human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 PUF60-related disorder puf60_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTS GTP cyclohydrolase I deficiency with hyperphenylalaninemia mondo_mondo_0100186_medgen_cn305333_omim_233910_orphanet_2102_orphanet_238583 MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910,Orphanet:2102,Orphanet:238583 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRH2 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset mondo_mondo_0024189_medgen_cn228418_omim_ps616263 MONDO:MONDO:0024189,MedGen:CN228418,OMIM:PS616263 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRU Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRT Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Deafness medgen_c0011053 MedGen:C0011053 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRJ Thrombocytopenia 10 mondo_mondo_0957578_medgen_c5882682_omim_620484 MONDO:MONDO:0957578,MedGen:C5882682,OMIM:620484 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRA condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN4 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN23 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN23 Brain atrophy human_phenotype_ontology_hp_0012444_medgen_c4551584 Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN14 Lymphedema-posterior choanal atresia syndrome mondo_mondo_0013324_medgen_c3150875_omim_613611_orphanet_99141 MONDO:MONDO:0013324,MedGen:C3150875,OMIM:613611,Orphanet:99141 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Pigmentary skin disorders pigmentary_skin_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPA Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development mondo_mondo_0957576_medgen_c5882680_omim_620482 MONDO:MONDO:0957576,MedGen:C5882680,OMIM:620482 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTF1A condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Proteus-like syndrome mondo_mondo_0017571_medgen_c1866398_orphanet_2969 MONDO:MONDO:0017571,MedGen:C1866398,Orphanet:2969 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Prostate cancer, somatic medgen_c4015779 MedGen:C4015779 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Lhermitte-Duclos disease human_phenotype_ontology_hp_0500009_mondo_mondo_0019002_medgen_c0391826_orphanet_65285 Human_Phenotype_Ontology:HP:0500009,MONDO:MONDO:0019002,MedGen:C0391826,Orphanet:65285 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Hemimegalencephaly human_phenotype_ontology_hp_0007206_mondo_mondo_0020492_medgen_c0431391_orphanet_99802 Human_Phenotype_Ontology:HP:0007206,MONDO:MONDO:0020492,MedGen:C0431391,Orphanet:99802 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Congenital hydrocephalus mondo_mondo_0016349_medgen_c0020256_omim_ps236600_orphanet_2185 MONDO:MONDO:0016349,MedGen:C0020256,OMIM:PS236600,Orphanet:2185 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCD3 PTCD3-related disorder ptcd3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTBP2 PTBP2-related neurodevelopmental disease ptbp2_related_neurodevelopmental_disease . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSTPIP1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSTPIP1 Hyperzincemia and hypercalprotectinemia mondo_mondo_0011174_medgen_c4760957_omim_601979_orphanet_251523 MONDO:MONDO:0011174,MedGen:C4760957,OMIM:601979,Orphanet:251523 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSORS1C1 Hypotrichosis 2 mondo_mondo_0007805_medgen_c1840299_omim_146520_orphanet_90368 MONDO:MONDO:0007805,MedGen:C1840299,OMIM:146520,Orphanet:90368 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMG2 condition not provided condition_not_provided . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMG2 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMA3 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC medgen_c4749059 MedGen:C4749059 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Mental deterioration human_phenotype_ontology_hp_0001268_human_phenotype_ontology_hp_0002303_human_phenotype_ontology_hp_0006822_human_phenotype_ontology_hp_0007155_human_phenotype_ontology_hp_0007253_human_phenotype_ontology_hp_0007264_human_phenotype_ontology_hp_0007298_medgen_c0234985 Human_Phenotype_Ontology:HP:0001268,Human_Phenotype_Ontology:HP:0002303,Human_Phenotype_Ontology:HP:0006822,Human_Phenotype_Ontology:HP:0007155,Human_Phenotype_Ontology:HP:0007253,Human_Phenotype_Ontology:HP:0007264,Human_Phenotype_Ontology:HP:0007298,MedGen:C0234985 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Early-onset autosomal dominant Alzheimer disease mondo_mondo_0015140_medgen_cn043596_orphanet_1020 MONDO:MONDO:0015140,MedGen:CN043596,Orphanet:1020 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Alzheimer disease, familial, 3, with unusual plaques medgen_c4015781 MedGen:C4015781 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques medgen_c1843014 MedGen:C1843014 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Alzheimer disease, familial, 3, with spastic paraparesis and apraxia medgen_c1843015 MedGen:C1843015 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Alzheimer disease 4 mondo_mondo_0011743_medgen_c1847200_omim_606889_orphanet_1020 MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Spinocerebellar ataxia 46 mondo_mondo_0033481_medgen_c4540404_omim_617770_orphanet_589522 MONDO:MONDO:0033481,MedGen:C4540404,OMIM:617770,Orphanet:589522 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Charcot-Marie-Tooth disease, type I mondo_mondo_0019011_medgen_c0751036_orphanet_65753 MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRUNE1 PRUNE1-related disorder prune1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRUNE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS56 Nanophthalmia mondo_mondo_0005514_medgen_c4274282_omim_ps600165_orphanet_35612 MONDO:MONDO:0005514,MedGen:C4274282,OMIM:PS600165,Orphanet:35612 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS23 Coats disease mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS12 Intellectual disability, autosomal recessive 1 mondo_mondo_0009580_medgen_c1855304_omim_249500_orphanet_88616 MONDO:MONDO:0009580,MedGen:C1855304,OMIM:249500,Orphanet:88616 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS1 PRSS1-related disorder prss1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 Hearing loss medgen_c3887873 MedGen:C3887873 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Stargardt disease mondo_mondo_0019353_medgen_c0271093_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Multifocal pattern dystrophy simulating fundus flavimaculatus mondo_mondo_0020382_medgen_c4509881_orphanet_99003 MONDO:MONDO:0020382,MedGen:C4509881,Orphanet:99003 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Leber congenital amaurosis 18 mondo_mondo_1060145_medgen_c4013102 MONDO:MONDO:1060145,MedGen:C4013102 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Choroideremia human_phenotype_ontology_hp_0001139_mondo_mondo_0010557_medgen_c0008525_omim_303100_orphanet_180 Human_Phenotype_Ontology:HP:0001139,MONDO:MONDO:0010557,MedGen:C0008525,OMIM:303100,Orphanet:180 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF8 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF8 PRPF8-related disorder prpf8_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF3 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Persistent lactic acidosis human_phenotype_ontology_hp_0004898_medgen_c3554538 Human_Phenotype_Ontology:HP:0004898,MedGen:C3554538 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Leukoencephalopathy human_phenotype_ontology_hp_0002352_human_phenotype_ontology_hp_0006838_human_phenotype_ontology_hp_0007073_medgen_c0270612 Human_Phenotype_Ontology:HP:0002352,Human_Phenotype_Ontology:HP:0006838,Human_Phenotype_Ontology:HP:0007073,MedGen:C0270612 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Lactic acidosis human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Hypertonia human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Diffuse white matter abnormalities human_phenotype_ontology_hp_0007204_medgen_c4024923 Human_Phenotype_Ontology:HP:0007204,MedGen:C4024923 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Childhood onset sensorineural hearing impairment human_phenotype_ontology_hp_0011474_medgen_c4023340 Human_Phenotype_Ontology:HP:0011474,MedGen:C4023340 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROP1 PROP1-related disorder prop1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Leber congenital amaurosis 1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Cone-rod dystrophy 2 mondo_mondo_0007362_medgen_c3489532_omim_120970_orphanet_1872 MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROK2 PROK2-related disorder prok2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROK2 Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP PRNP-related disorder prnp_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP Kuru, susceptibility to mondo_mondo_0009500_medgen_c1855588_omim_245300_orphanet_454745 MONDO:MONDO:0009500,MedGen:C1855588,OMIM:245300,Orphanet:454745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Short metacarpal human_phenotype_ontology_hp_0001164_human_phenotype_ontology_hp_0005695_human_phenotype_ontology_hp_0005717_human_phenotype_ontology_hp_0005909_human_phenotype_ontology_hp_0006047_human_phenotype_ontology_hp_0006183_human_phenotype_ontology_hp_0006186_human_phenotype_ontology_hp_0010049_medgen_c1837084 Human_Phenotype_Ontology:HP:0001164,Human_Phenotype_Ontology:HP:0005695,Human_Phenotype_Ontology:HP:0005717,Human_Phenotype_Ontology:HP:0005909,Human_Phenotype_Ontology:HP:0006047,Human_Phenotype_Ontology:HP:0006183,Human_Phenotype_Ontology:HP:0006186,Human_Phenotype_Ontology:HP:0010049,MedGen:C1837084 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Self-injurious behavior human_phenotype_ontology_hp_0100716_medgen_c0085271 Human_Phenotype_Ontology:HP:0100716,MedGen:C0085271 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Renal hypoplasia human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Lumbar hyperlordosis human_phenotype_ontology_hp_0002938_human_phenotype_ontology_hp_0002941_human_phenotype_ontology_hp_0004560_human_phenotype_ontology_hp_0004574_human_phenotype_ontology_hp_0004596_medgen_c1184923 Human_Phenotype_Ontology:HP:0002938,Human_Phenotype_Ontology:HP:0002941,Human_Phenotype_Ontology:HP:0004560,Human_Phenotype_Ontology:HP:0004574,Human_Phenotype_Ontology:HP:0004596,MedGen:C1184923 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Insulin resistance human_phenotype_ontology_hp_0000855_medgen_c0021655 Human_Phenotype_Ontology:HP:0000855,MedGen:C0021655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Hyperlipidemia human_phenotype_ontology_hp_0003077_human_phenotype_ontology_hp_0008159_human_phenotype_ontology_hp_0008356_mondo_mondo_0021187_medgen_c0020473 Human_Phenotype_Ontology:HP:0003077,Human_Phenotype_Ontology:HP:0008159,Human_Phenotype_Ontology:HP:0008356,MONDO:MONDO:0021187,MedGen:C0020473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Hepatic steatosis human_phenotype_ontology_hp_0001397_human_phenotype_ontology_hp_0002252_human_phenotype_ontology_hp_0200121_mondo_mondo_0004790_medgen_c2711227 Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Brachydactyly human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Acanthosis nigricans human_phenotype_ontology_hp_0000956_human_phenotype_ontology_hp_0007498_human_phenotype_ontology_hp_0007518_human_phenotype_ontology_hp_0007591_mondo_mondo_0007035_mesh_d000052_medgen_c0000889 Human_Phenotype_Ontology:HP:0000956,Human_Phenotype_Ontology:HP:0007498,Human_Phenotype_Ontology:HP:0007518,Human_Phenotype_Ontology:HP:0007591,MONDO:MONDO:0007035,MeSH:D000052,MedGen:C0000889 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Abnormality of the dentition human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKG2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCG Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1B PRKAR1B-related disorder prkar1b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 PRKAG2-related disorder prkag2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKACA condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKACA Pigmented nodular adrenocortical disease, primary, 4 mondo_mondo_0014359_medgen_c4014425_omim_615830_orphanet_189439 MONDO:MONDO:0014359,MedGen:C4014425,OMIM:615830,Orphanet:189439 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRIMA1 Familial sleep-related hypermotor epilepsy mondo_mondo_0000030_medgen_c5577629_omim_ps600513 MONDO:MONDO:0000030,MedGen:C5577629,OMIM:PS600513 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRICKLE1 Epilepsy, progressive myoclonic, 1B mondo_mondo_0012904_medgen_c2676254_omim_612437_orphanet_308 MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRG4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREPL SLC3A1-related disorder slc3a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREPL Cystine urolithiasis medgen_c3671878 MedGen:C3671878 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREP condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDX3 Corneal dystrophy, punctiform and polychromatic pre-descemet mondo_mondo_0859248_medgen_c5676982_omim_619871 MONDO:MONDO:0859248,MedGen:C5676982,OMIM:619871 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDX1 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC medgen_c4693974 MedGen:C4693974 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM13 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM12 condition not provided condition_not_provided MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 PQBP1-related disorder pqbp1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPTC7 Hypomyelinating leukodystrophy hypomyelinating_leukodystrophy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP3CA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D PPP2R5D-related disorder ppp2r5d_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2CA PPP2CA-related disorder ppp2ca_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R13L condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Abnormal blistering of the skin human_phenotype_ontology_hp_0007467_human_phenotype_ontology_hp_0007496_human_phenotype_ontology_hp_0008066_human_phenotype_ontology_hp_0200038_medgen_c2132198 Human_Phenotype_Ontology:HP:0007467,Human_Phenotype_Ontology:HP:0007496,Human_Phenotype_Ontology:HP:0008066,Human_Phenotype_Ontology:HP:0200038,MedGen:C2132198 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1K Maple syrup urine disease, mild variant mondo_mondo_0014057_medgen_c3554575_omim_615135_orphanet_511 MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIA3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPA2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU6F2 Wilms tumor 5 mondo_mondo_0011112_medgen_c1832099_omim_601583_orphanet_654 MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F3 Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU1F1 POU1F1-related disorder pou1f1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR Differences in sex development differences_in_sex_development . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis mondo_mondo_0020667_medgen_c2936791_omim_207410_orphanet_596008_orphanet_83 MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410,Orphanet:596008,Orphanet:83 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Myopathy caused by variation in POMT1 mondo_mondo_0700070_medgen_cn305641 MONDO:MONDO:0700070,MedGen:CN305641 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Dysgenesis of the cerebellar vermis human_phenotype_ontology_hp_0002195_medgen_c4025719 Human_Phenotype_Ontology:HP:0002195,MedGen:C4025719 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMP condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMP Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome mondo_mondo_0011169_medgen_c1866029_omim_601952_orphanet_281201 MONDO:MONDO:0011169,MedGen:C1866029,OMIM:601952,Orphanet:281201 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMK POMK-related disorder pomk_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMC Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLRMT condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3K Leukodystrophy, hypomyelinating, 21 mondo_mondo_0030263_medgen_c5543334_omim_619310 MONDO:MONDO:0030263,MedGen:C5543334,OMIM:619310 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3H Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3GL Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3GL POLR3GL-related disorder polr3gl_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3GL Oligodontia human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3GL Hyperostosis human_phenotype_ontology_hp_0100774_mondo_mondo_0002185_medgen_c0020492 Human_Phenotype_Ontology:HP:0100774,MONDO:MONDO:0002185,MedGen:C0020492 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3GL Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B POLR-related leukodystrophy mondo_mondo_0100605_medgen_c5679947_orphanet_289494 MONDO:MONDO:0100605,MedGen:C5679947,Orphanet:289494 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism mondo_mondo_0011897_medgen_cn034185_omim_607694_orphanet_137639_orphanet_447893_orphanet_447896_orphanet_77295_orphanet_88637 MONDO:MONDO:0011897,MedGen:CN034185,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A POLR3A-related neurological disorders polr3a_related_neurological_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism mondo_mondo_0013722_medgen_c3280644_omim_614381_orphanet_85186_orphanet_88637 MONDO:MONDO:0013722,MedGen:C3280644,OMIM:614381,Orphanet:85186,Orphanet:88637 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Waardenburg syndrome type 4A mondo_mondo_0010192_medgen_c1848519_omim_277580_orphanet_897 MONDO:MONDO:0010192,MedGen:C1848519,OMIM:277580,Orphanet:897 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Hypogonadism with anosmia mondo_mondo_0018800_medgen_c0162809_orphanet_478 MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Deafness with anatomical inner ear anomalies deafness_with_anatomical_inner_ear_anomalies . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2C Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1D POLR1D-related disorder polr1d_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1B POLR1B-related disorder polr1b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG2 POLG2-related disorder polg2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Fanconi anemia complementation group I mondo_mondo_0012186_medgen_c1836861_omim_609053_orphanet_84 MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLA2 Telomere Biology Disorder telomere_biology_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1A POC1A-related syndrome poc1a_related_syndrome . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPO Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPO PNPO-related disorder pnpo_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA2 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNLIP Pancreatic triacylglycerol lipase deficiency mondo_mondo_0013700_medgen_c3280527_omim_614338_orphanet_309031 MONDO:MONDO:0013700,MedGen:C3280527,OMIM:614338,Orphanet:309031 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKD Paroxysmal nonkinesigenic dyskinesia 1 mondo_mondo_0700089_medgen_c4551506_omim_118800_orphanet_98810 MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800,Orphanet:98810 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKD Paroxysmal nonkinesigenic dyskinesia mondo_mondo_0700088_medgen_c1869117_orphanet_98810 MONDO:MONDO:0700088,MedGen:C1869117,Orphanet:98810 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Lynch-like syndrome lynch_like_syndrome . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Restrictive external ophthalmoplegia human_phenotype_ontology_hp_0007846_human_phenotype_ontology_hp_0007936_human_phenotype_ontology_hp_0007959_human_phenotype_ontology_hp_0008025_medgen_c1865918 Human_Phenotype_Ontology:HP:0007846,Human_Phenotype_Ontology:HP:0007936,Human_Phenotype_Ontology:HP:0007959,Human_Phenotype_Ontology:HP:0008025,MedGen:C1865918 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Normal pressure hydrocephalus human_phenotype_ontology_hp_0002343_mondo_mondo_0009366_medgen_c0020258_omim_236690 Human_Phenotype_Ontology:HP:0002343,MONDO:MONDO:0009366,MedGen:C0020258,OMIM:236690 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Hypoventilation human_phenotype_ontology_hp_0002791_human_phenotype_ontology_hp_0004892_medgen_c3203358 Human_Phenotype_Ontology:HP:0002791,Human_Phenotype_Ontology:HP:0004892,MedGen:C3203358 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Global brain atrophy human_phenotype_ontology_hp_0002283_human_phenotype_ontology_hp_0002369_human_phenotype_ontology_hp_0002462_medgen_c0241816 Human_Phenotype_Ontology:HP:0002283,Human_Phenotype_Ontology:HP:0002369,Human_Phenotype_Ontology:HP:0002462,MedGen:C0241816 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Floppy infant human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Diffuse cerebellar atrophy human_phenotype_ontology_hp_0006928_human_phenotype_ontology_hp_0100275_medgen_c1854699 Human_Phenotype_Ontology:HP:0006928,Human_Phenotype_Ontology:HP:0100275,MedGen:C1854699 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Chronic lactic acidosis human_phenotype_ontology_hp_0004899_human_phenotype_ontology_hp_0004925_medgen_c1839437 Human_Phenotype_Ontology:HP:0004899,Human_Phenotype_Ontology:HP:0004925,MedGen:C1839437 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Blindness human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCA Bilateral ptosis human_phenotype_ontology_hp_0001488_medgen_c1865916 Human_Phenotype_Ontology:HP:0001488,MedGen:C1865916 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Guillain-Barre syndrome, familial mondo_mondo_0007691_medgen_c4083008_omim_139393_orphanet_98916 MONDO:MONDO:0007691,MedGen:C4083008,OMIM:139393,Orphanet:98916 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP2 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Poor speech human_phenotype_ontology_hp_0002465_medgen_c1848207 Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Cerebral atrophy human_phenotype_ontology_hp_0002059_human_phenotype_ontology_hp_0002422_human_phenotype_ontology_hp_0006890_medgen_c0235946 Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXND1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS1 Hearing loss, autosomal dominant 76 mondo_mondo_0032917_medgen_c5394080_omim_618787 MONDO:MONDO:0032917,MedGen:C5394080,OMIM:618787 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS1 Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Pelizaeus-Merzbacher disease, connatal medgen_c4016483 MedGen:C4016483 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Pelizaeus-Merzbacher disease, atypical medgen_c0751915 MedGen:C0751915 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 PLP1-related disorder plp1_related_disorder MedGen:CN378767 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG PLG-related disorder plg_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG Dysplasminogenemia mondo_mondo_0100538_medgen_cn043003 MONDO:MONDO:0100538,MedGen:CN043003 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 Juvenile amyotrophic lateral sclerosis mondo_mondo_0017593_medgen_c3468114_orphanet_300605 MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia mondo_mondo_0014766_medgen_c4225213_omim_616763 MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Multiple sclerosis mondo_mondo_0005301_medgen_c0026769 MONDO:MONDO:0005301,MedGen:C0026769 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Epidermolysis bullosa simplex mondo_mondo_0017610_medgen_c0079298_omim_ps131760_orphanet_304 MONDO:MONDO:0017610,MedGen:C0079298,OMIM:PS131760,Orphanet:304 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD3 Spinocerebellar ataxia 46 mondo_mondo_0033481_medgen_c4540404_omim_617770_orphanet_589522 MONDO:MONDO:0033481,MedGen:C4540404,OMIM:617770,Orphanet:589522 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD3 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCZ1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCH1 Holoprosencephaly 14 mondo_mondo_0030886_medgen_c5676994_omim_619895 MONDO:MONDO:0030886,MedGen:C5676994,OMIM:619895 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCG2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCE1 PLCE1-related disorder plce1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCD1 PLCD1-related disorder plcd1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Auriculocondylar syndrome 2B mondo_mondo_0957544_medgen_c5830664_omim_620458 MONDO:MONDO:0957544,MedGen:C5830664,OMIM:620458 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAG1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAG1 Silver-Russell syndrome 1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 PLA2G6-related disorder pla2g6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Ventricular tachycardia efo_the_experimental_factor_ontology_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 EFO:_The_Experimental_Factor_Ontology:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Arrhythmogenic ventricular cardiomyopathy arrhythmogenic_ventricular_cardiomyopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKLR Congenital anemia mondo_mondo_0000577_medgen_c0158995 MONDO:MONDO:0000577,MedGen:C0158995 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Ventricular hypertrophy human_phenotype_ontology_hp_0001714_human_phenotype_ontology_hp_0005167_medgen_c0340279 Human_Phenotype_Ontology:HP:0001714,Human_Phenotype_Ontology:HP:0005167,MedGen:C0340279 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Abnormal intrahepatic bile duct morphology human_phenotype_ontology_hp_0011040_medgen_c4023577 Human_Phenotype_Ontology:HP:0011040,MedGen:C4023577 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKDCC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1L1 Situs inversus human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Polycystic kidney disease, adult (ADPKD) polycystic_kidney_disease_adult_adpkd . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Pancreatic cysts human_phenotype_ontology_hp_0001737_medgen_c0030283 Human_Phenotype_Ontology:HP:0001737,MedGen:C0030283 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PJVK PJVK-related disorder pjvk_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX3 PITX3-related disorder pitx3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX3 Cataract 11, posterior polar medgen_c3807150 MedGen:C3807150 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX3 Anterior segment dysgenesis 1 mondo_mondo_0007138_medgen_c4551992_omim_107250 MONDO:MONDO:0007138,MedGen:C4551992,OMIM:107250 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 PITX2-related disorder pitx2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITRM1 Spinocerebellar ataxia, autosomal recessive 30 mondo_mondo_0030318_medgen_c5543620_omim_619405 MONDO:MONDO:0030318,MedGen:C5543620,OMIM:619405 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIP5K1C Lethal congenital contracture syndrome 3 mondo_mondo_0012656_medgen_c1969655_omim_611369_orphanet_137783 MONDO:MONDO:0012656,MedGen:C1969655,OMIM:611369,Orphanet:137783 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIP5K1B Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Overgrowth syndrome mondo_mondo_0019716_medgen_c2986703_orphanet_93460 MONDO:MONDO:0019716,MedGen:C2986703,Orphanet:93460 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD Combined immunodeficiency with faciooculoskeletal anomalies mondo_mondo_0013226_medgen_c2750068_omim_613328_orphanet_221139 MONDO:MONDO:0013226,MedGen:C2750068,OMIM:613328,Orphanet:221139 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA PIK3CA overgrowth syndrome pik3ca_overgrowth_syndrome . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA MACRODACTYLY, SOMATIC macrodactyly_somatic . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Hemifacial myohyperplasia mondo_mondo_0011723_medgen_c1847521_omim_606773_orphanet_141148 MONDO:MONDO:0011723,MedGen:C1847521,OMIM:606773,Orphanet:141148 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Cowden syndrome 1 mondo_mondo_0008021_medgen_cn072330_omim_158350 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3C2G condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGY Hyperphosphatasia with intellectual disability syndrome 6 mondo_mondo_0014780_medgen_c4225201_omim_616809_orphanet_247262 MONDO:MONDO:0014780,MedGen:C4225201,OMIM:616809,Orphanet:247262 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGV Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGT Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGP condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGP Developmental and epileptic encephalopathy, 55 mondo_mondo_0033364_medgen_c4539843_omim_617599 MONDO:MONDO:0033364,MedGen:C4539843,OMIM:617599 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGP Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGO Hyperphosphatasia-intellectual disability syndrome mondo_mondo_0016596_medgen_c1855923_omim_ps239300_orphanet_247262 MONDO:MONDO:0016596,MedGen:C1855923,OMIM:PS239300,Orphanet:247262 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGN Multiple congenital anomalies-hypotonia-seizures syndrome mondo_mondo_0100247_medgen_c5191419_omim_ps614080_orphanet_280633 MONDO:MONDO:0100247,MedGen:C5191419,OMIM:PS614080,Orphanet:280633 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL PIGL-related disorder pigl_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGK condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGH Glycosylphosphatidylinositol biosynthesis defect 17 mondo_mondo_0060724_medgen_c4747891_omim_618010 MONDO:MONDO:0060724,MedGen:C4747891,OMIM:618010 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 Thickened nuchal skin fold human_phenotype_ontology_hp_0000474_human_phenotype_ontology_hp_0000477_medgen_c1836940 Human_Phenotype_Ontology:HP:0000474,Human_Phenotype_Ontology:HP:0000477,MedGen:C1836940 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 Hydrops fetalis human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIDD1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIBF1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIBF1 Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIBF1 Cephalocele human_phenotype_ontology_hp_0011815_mondo_mondo_0017078_medgen_c0014065_orphanet_268817 Human_Phenotype_Ontology:HP:0011815,MONDO:MONDO:0017078,MedGen:C0014065,Orphanet:268817 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4K2A Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities mondo_mondo_0958240_medgen_c5935585_omim_620732 MONDO:MONDO:0958240,MedGen:C5935585,OMIM:620732 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHYH Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHYH PHYH-related disorder phyh_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B Hirschsprung disease-ganglioneuroblastoma syndrome mondo_mondo_0013082_medgen_c5191058_orphanet_2151 MONDO:MONDO:0013082,MedGen:C5191058,Orphanet:2151 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2A Fibrosis of extraocular muscles, congenital, 2 mondo_mondo_0011181_medgen_c1865915_omim_602078 MONDO:MONDO:0011181,MedGen:C1865915,OMIM:602078 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHLDB1 Osteogenesis imperfecta, type 23 mondo_mondo_0957988_medgen_c5882757_omim_620639 MONDO:MONDO:0957988,MedGen:C5882757,OMIM:620639 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKG2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKG2 Glycogen storage disease type IXc glycogen_storage_disease_type_ixc . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHGDH Autosomal recessive PHGDH-related disorders autosomal_recessive_phgdh_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF6 PHF6-related disorder phf6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF5A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF20 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHC1 Microcephaly 11, primary, autosomal recessive mondo_mondo_0014173_medgen_c3809431_omim_615414_orphanet_2512 MONDO:MONDO:0014173,MedGen:C3809431,OMIM:615414,Orphanet:2512 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGRMC1 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM3 PGM3-related disorder pgm3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP1 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFAS Cerebroretinal microangiopathy with calcifications and cysts 1 mondo_mondo_0024564_medgen_c4552029_omim_612199_orphanet_313838 MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199,Orphanet:313838 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 PEX5-related disorder pex5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX3 Peroxisome biogenesis disorder 10B mondo_mondo_0054549_medgen_c4479254_omim_617370 MONDO:MONDO:0054549,MedGen:C4479254,OMIM:617370 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX26 PEX26-related disorder pex26_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX19 Zellweger spectrum disorders mondo_mondo_0019609_medgen_c0043459_orphanet_912 MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 PEX10-related disorder pex10_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Peroxisome biogenesis disorder type 1A peroxisome_biogenesis_disorder_type_1a . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PERP Erythrokeratodermia variabilis et progressiva 7 mondo_mondo_0030941_medgen_c5543106_omim_619209 MONDO:MONDO:0030941,MedGen:C5543106,OMIM:619209 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PER3 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PER2 Advanced sleep phase syndrome 1 mondo_mondo_0011442_medgen_c3807327_omim_604348_orphanet_164736 MONDO:MONDO:0011442,MedGen:C3807327,OMIM:604348,Orphanet:164736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEPD PEPD-related disorder pepd_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZRN3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD8 Intellectual developmental disorder with autism and dysmorphic facies mondo_mondo_0859281_medgen_c5774206_omim_620021 MONDO:MONDO:0859281,MedGen:C5774206,OMIM:620021 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Usher syndrome type 2A mondo_mondo_0010169_medgen_c1848634_omim_276901_orphanet_231178_orphanet_886 MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDYN Spinocerebellar ataxia type 23 mondo_mondo_0012449_medgen_c1853250_omim_610245_orphanet_101108 MONDO:MONDO:0012449,MedGen:C1853250,OMIM:610245,Orphanet:101108 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 PDX1-related disorder pdx1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDSS2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDP1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRB Myeloproliferative disorder, chronic, with eosinophilia human_phenotype_ontology_hp_0006782_mondo_mondo_0007546_medgen_c1851585_omim_131440 Human_Phenotype_Ontology:HP:0006782,MONDO:MONDO:0007546,MedGen:C1851585,OMIM:131440 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6G condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE11A condition not provided condition_not_provided MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCYT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCYT1A Lipodystrophy, congenital generalized, type 5 mondo_mondo_0958023_medgen_c5882745_omim_620680 MONDO:MONDO:0958023,MedGen:C5882745,OMIM:620680 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK9 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK1 Body mass index quantitative trait locus 12 medgen_c2676498_omim_612362 MedGen:C2676498,OMIM:612362 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCGF2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCGF2 Turnpenny-fry syndrome mondo_mondo_0032707_medgen_c5193060_omim_618371_orphanet_688642 MONDO:MONDO:0032707,MedGen:C5193060,OMIM:618371,Orphanet:688642 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCGF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH12 Disorder of development or morphogenesis mondo_mondo_0021147_medgen_c0694457 MONDO:MONDO:0021147,MedGen:C0694457 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Cone-rod dystrophy 23 medgen_c5829987 MedGen:C5829987 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBX1 coracoclavicular ankylosis coracoclavicular_ankylosis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Sporadic aniridia sporadic_aniridia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 11p partial monosomy syndrome mondo_mondo_0008681_medgen_c0206115_omim_194072_orphanet_893 MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX5 Leukemia, acute lymphoblastic, susceptibility to, 3 mondo_mondo_0014241_medgen_c3809874_omim_615545 MONDO:MONDO:0014241,MedGen:C3809874,OMIM:615545 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARS2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARD3 Neural tube defect human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAPSS2 PAPSS2-related disorder papss2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 PANK2-related disorder pank2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Neurodegeneration human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAM16 Autosomal recessive spondylometaphyseal dysplasia, Megarbane type mondo_mondo_0013223_medgen_c2750075_omim_613320_orphanet_401979 MONDO:MONDO:0013223,MedGen:C2750075,OMIM:613320,Orphanet:401979 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK2 Knobloch syndrome 2 mondo_mondo_0100119_medgen_c5676897_omim_618458 MONDO:MONDO:0100119,MedGen:C5676897,OMIM:618458 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis mondo_mondo_0014679_medgen_c4225295_omim_616531 MONDO:MONDO:0014679,MedGen:C4225295,OMIM:616531 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Mild non-PKU hyperphenylalanemia medgen_c2678416 MedGen:C2678416 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Mild hyperphenylalaninemia mondo_mondo_0019335_medgen_c5680207_orphanet_79651 MONDO:MONDO:0019335,MedGen:C5680207,Orphanet:79651 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAGE2B X-linked sideroblastic anemia 1 mondo_mondo_0020721_medgen_c4551511_omim_300751_orphanet_75563 MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PADI6 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PADI6 PADI6-related disorder padi6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PADI3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACRG condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACRG Autosomal recessive juvenile Parkinson disease 2 mondo_mondo_0010820_medgen_c1868675_omim_600116_orphanet_2828 MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HB condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HB Cole-Carpenter syndrome 1 mondo_mondo_0007204_medgen_c4317154_omim_112240_orphanet_2050 MONDO:MONDO:0007204,MedGen:C4317154,OMIM:112240,Orphanet:2050 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HA2 High myopia, early-onset medgen_c5394216 MedGen:C5394216 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RX2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXR1 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXCT1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXCT1 OXCT1-related disorder oxct1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXA1L Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD7A Neurodevelopmental disorder with hypotonia and seizures mondo_mondo_0968979_medgen_c5935609_omim_620790 MONDO:MONDO:0968979,MedGen:C5935609,OMIM:620790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD6B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Primary ciliary dyskinesia 21 mondo_mondo_0014123_medgen_c3809087_omim_615294_orphanet_244 MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Deafness medgen_c0011053 MedGen:C0011053 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Autosomal recessive nonsyndromic hearing loss 3 mondo_mondo_0010860_medgen_c1838263_omim_600316_orphanet_90636 MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOA Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOA Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTC Likely inborn error of metabolism likely_inborn_error_of_metabolism . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSMR condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSGEP Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSBPL2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC3 ORC3-related disorder orc3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPLAH condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 OPHN1-related disorder ophn1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 OPA1-related optic atrophy with or without extraocular features mondo_mondo_0800181_medgen_cn322459 MONDO:MONDO:0800181,MedGen:CN322459 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Mitochondrial dna depletion syndrome 14A (encephalomyopathic type) mondo_mondo_0980967_medgen_cn380849_omim_621481 MONDO:MONDO:0980967,MedGen:CN380849,OMIM:621481 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Glaucoma, normal tension, susceptibility to mondo_mondo_0011693_medgen_c1847730_omim_606657 MONDO:MONDO:0011693,MedGen:C1847730,OMIM:606657 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Simpson-Golabi-Behmel syndrome mondo_mondo_0010731_medgen_c4317043_orphanet_373 MONDO:MONDO:0010731,MedGen:C4317043,Orphanet:373 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODC1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD4 ODAD4-related disorder odad4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD3 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD2 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD1 Adams-Oliver syndrome 5 mondo_mondo_0014459_medgen_c4014970_omim_616028_orphanet_974 MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL Nephrolithiasis/nephrocalcinosis nephrolithiasis_nephrocalcinosis MedGen:CN580796 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL Dent disease mondo_mondo_0015612_medgen_c0878681_omim_ps300009_orphanet_1652 MONDO:MONDO:0015612,MedGen:C0878681,OMIM:PS300009,Orphanet:1652 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSL1 3M syndrome 1 mondo_mondo_0010117_medgen_c2678312_omim_273750_orphanet_2616 MONDO:MONDO:0010117,MedGen:C2678312,OMIM:273750,Orphanet:2616 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN OBSCN-related disorder obscn_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia medgen_c4017305 MedGen:C4017305 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAS1 Pulmonary alveolar proteinosis with hypogammaglobulinemia mondo_mondo_0020840_medgen_c4747984_omim_618042 MONDO:MONDO:0020840,MedGen:C4747984,OMIM:618042 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NYX NYX-related disorder nyx_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 NUP14 Related Disorders nup14_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP205 Nephrotic syndrome, type 13 mondo_mondo_0014818_medgen_c4225165_omim_616893_orphanet_656 MONDO:MONDO:0014818,MedGen:C4225165,OMIM:616893,Orphanet:656 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP188 NUP188-related disorder nup188_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP188 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP133 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP133 Galloway-Mowat syndrome 8 mondo_mondo_0032693_medgen_c5193045_omim_618349 MONDO:MONDO:0032693,MedGen:C5193045,OMIM:618349 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDC Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDC APC-mutation negative familial colorectal cancer apc_mutation_negative_familial_colorectal_cancer . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUBPL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5E NT5E-related disorder nt5e_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5DC4 Filippi syndrome mondo_mondo_0010092_medgen_c0795940_omim_272440_orphanet_3255 MONDO:MONDO:0010092,MedGen:C0795940,OMIM:272440,Orphanet:3255 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5DC1 COL10A1-related disorder col10a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN2 Autosomal recessive non-syndromic intellectual disability mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSRP1 Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSRP1 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSRP1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSRP1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSMCE3 Lung disease, immunodeficiency, and chromosome breakage syndrome mondo_mondo_0014984_medgen_c4310653_omim_617241 MONDO:MONDO:0014984,MedGen:C4310653,OMIM:617241 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSMCE3 Lung damage, immunodeficiency and chromosome breakage syndrome lung_damage_immunodeficiency_and_chromosome_breakage_syndrome . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Linear nevus sebaceous syndrome human_phenotype_ontology_hp_0010817_mondo_mondo_0008097_medgen_c4552097_omim_163200_orphanet_2612 Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAP NRAP-related disorder nrap_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAP Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C2 Renal tubulopathies renal_tubulopathies . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 NR2F2 associated disorders nr2f2_associated_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1-AS1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR1H4 Progressive familial intrahepatic cholestasis type 1 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B2 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B2 APC-mutation negative familial colorectal cancer apc_mutation_negative_familial_colorectal_cancer . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NQO1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Trident hand human_phenotype_ontology_hp_0004060_medgen_c0426874 Human_Phenotype_Ontology:HP:0004060,MedGen:C0426874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Short stature with nonspecific skeletal abnormalities 1 mondo_mondo_0014551_medgen_cn379227_omim_616255 MONDO:MONDO:0014551,MedGen:CN379227,OMIM:616255 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Limb undergrowth human_phenotype_ontology_hp_0003058_human_phenotype_ontology_hp_0005049_human_phenotype_ontology_hp_0005057_human_phenotype_ontology_hp_0009826_medgen_c0239399 Human_Phenotype_Ontology:HP:0003058,Human_Phenotype_Ontology:HP:0005049,Human_Phenotype_Ontology:HP:0005057,Human_Phenotype_Ontology:HP:0009826,MedGen:C0239399 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Growth delay human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Nephrotic range proteinuria human_phenotype_ontology_hp_0012593_medgen_c0445118 Human_Phenotype_Ontology:HP:0012593,MedGen:C0445118 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Autosomal recessive NPHP4-related disorders autosomal_recessive_nphp4_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Renal-hepatic-pancreatic dysplasia mondo_mondo_0017417_medgen_c2673883_omim_ps208540_orphanet_294415 MONDO:MONDO:0017417,MedGen:C2673883,OMIM:PS208540,Orphanet:294415 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Multiple renal cysts human_phenotype_ontology_hp_0005562_medgen_c0431718 Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Enlarged kidney human_phenotype_ontology_hp_0000105_medgen_c0542518 Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Anhydramnios human_phenotype_ontology_hp_0025700_medgen_c0730379 Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Speech apraxia human_phenotype_ontology_hp_0011098_medgen_c0264611 Human_Phenotype_Ontology:HP:0011098,MedGen:C0264611 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Postural instability human_phenotype_ontology_hp_0002172_medgen_c1843921 Human_Phenotype_Ontology:HP:0002172,MedGen:C1843921 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Niemann-Pick disease, type C1, adult form medgen_c4017105 MedGen:C4017105 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Niemann-Pick disease, type A mondo_mondo_0009756_medgen_c0268242_omim_257200_orphanet_77292 MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Headache human_phenotype_ontology_hp_0000266_human_phenotype_ontology_hp_0001354_human_phenotype_ontology_hp_0002315_medgen_c0018681 Human_Phenotype_Ontology:HP:0000266,Human_Phenotype_Ontology:HP:0001354,Human_Phenotype_Ontology:HP:0002315,MedGen:C0018681 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Cognitive impairment human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Cataplexy human_phenotype_ontology_hp_0002428_human_phenotype_ontology_hp_0002524_human_phenotype_ontology_hp_0002525_medgen_c0007384 Human_Phenotype_Ontology:HP:0002428,Human_Phenotype_Ontology:HP:0002524,Human_Phenotype_Ontology:HP:0002525,MedGen:C0007384 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOVA2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Transient ischemic attack human_phenotype_ontology_hp_0002326_mondo_mondo_0005264_medgen_c0007787 Human_Phenotype_Ontology:HP:0002326,MONDO:MONDO:0005264,MedGen:C0007787 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Sneddon syndrome mondo_mondo_0008436_medgen_c0282492_omim_182410_orphanet_820 MONDO:MONDO:0008436,MedGen:C0282492,OMIM:182410,Orphanet:820 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Migraine human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Leukodystrophy, Adult-Onset leukodystrophy_adult_onset MedGen:CN239186 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Ischemic stroke human_phenotype_ontology_hp_0002140_mondo_mondo_1060198_medgen_c0948008_omim_601367 Human_Phenotype_Ontology:HP:0002140,MONDO:MONDO:1060198,MedGen:C0948008,OMIM:601367 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Depression human_phenotype_ontology_hp_0000716_mondo_mondo_0002050_mesh_d003866_medgen_c0011581 Human_Phenotype_Ontology:HP:0000716,MONDO:MONDO:0002050,MeSH:D003866,MedGen:C0011581 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Abnormal cerebral white matter morphology human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Keratoacanthoma human_phenotype_ontology_hp_0031525_mondo_mondo_0002527_mesh_d007636_medgen_c0022572 Human_Phenotype_Ontology:HP:0031525,MONDO:MONDO:0002527,MeSH:D007636,MedGen:C0022572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 KA-like vemurafenib-induced squamous lesions ka_like_vemurafenib_induced_squamous_lesions . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOS3 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOS1AP Nephrotic syndrome, type 22 mondo_mondo_0030895_medgen_c5436909_omim_619155 MONDO:MONDO:0030895,MedGen:C5436909,OMIM:619155 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NONO Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOC3L condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NNT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NNT GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY glucocorticoid_deficiency_4_with_mineralocorticoid_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 NMNAT1-related disorder nmnat1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NME5 Ciliary dyskinesia, primary, 48, without situs inversus mondo_mondo_0031054_medgen_c5774214_omim_620032 MONDO:MONDO:0031054,MedGen:C5774214,OMIM:620032 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP7 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP7 Hydatidiform mole human_phenotype_ontology_hp_0032192_mondo_mondo_0006248_medgen_c0020217_omim_ps231090_orphanet_99927 Human_Phenotype_Ontology:HP:0032192,MONDO:MONDO:0006248,MedGen:C0020217,OMIM:PS231090,Orphanet:99927 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP5 Inherited oocyte maturation defect mondo_mondo_0014769_medgen_cn238505_omim_ps615774 MONDO:MONDO:0014769,MedGen:CN238505,OMIM:PS615774 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 NLRP3-related disorder nlrp3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRC4 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN4X Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 NKX2.5-related congenital, conduction and myopathic heart disease mondo_mondo_0800441_medgen_cn372093 MONDO:MONDO:0800441,MedGen:CN372093 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 NKX2-5-related disorder nkx2_5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Malformation of the heart and great vessels malformation_of_the_heart_and_great_vessels MedGen:CN221285 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Hypothyroidism, congenital, nongoitrous, 5 mondo_mondo_0009154_medgen_c2673630_omim_225250_orphanet_95712 MONDO:MONDO:0009154,MedGen:C2673630,OMIM:225250,Orphanet:95712 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Hypoplastic left heart syndrome 2 mondo_mondo_0013752_medgen_c3280795_omim_614435_orphanet_2248 MONDO:MONDO:0013752,MedGen:C3280795,OMIM:614435,Orphanet:2248 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Atrioventricular septal defect, somatic medgen_c1833590 MedGen:C1833590 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKAP Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type mondo_mondo_0026733_medgen_c5393302_omim_301039_orphanet_700325 MONDO:MONDO:0026733,MedGen:C5393302,OMIM:301039,Orphanet:700325 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NICN1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHS Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHLRC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFASC condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 NF2-related disorder nf2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 Meningioma human_phenotype_ontology_hp_0002858_human_phenotype_ontology_hp_0006754_mondo_mondo_0016642_medgen_c0025286_orphanet_2495 Human_Phenotype_Ontology:HP:0002858,Human_Phenotype_Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:2495 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 Acoustic neuroma human_phenotype_ontology_hp_0009588_mondo_mondo_0001569_medgen_c0027859_orphanet_252175 Human_Phenotype_Ontology:HP:0009588,MONDO:MONDO:0001569,MedGen:C0027859,Orphanet:252175 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Lisch nodules human_phenotype_ontology_hp_0009737_medgen_c1860334 Human_Phenotype_Ontology:HP:0009737,MedGen:C1860334 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Ewing sarcoma human_phenotype_ontology_hp_0012254_mondo_mondo_0012817_medgen_c0553580_omim_612219_orphanet_2677_orphanet_319 Human_Phenotype_Ontology:HP:0012254,MONDO:MONDO:0012817,MedGen:C0553580,OMIM:612219,Orphanet:2677,Orphanet:319 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Chromosome 17q11.2 deletion syndrome, 1.4Mb mondo_mondo_0013357_medgen_c5401456_omim_613675_orphanet_139474_orphanet_636_orphanet_97685 MONDO:MONDO:0013357,MedGen:C5401456,OMIM:613675,Orphanet:139474,Orphanet:636,Orphanet:97685 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXMIF NEXMIF-related disorder nexmif_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROD1 Maturity-onset diabetes of the young type 6 mondo_mondo_0011668_medgen_c1853371_omim_606394_orphanet_552 MONDO:MONDO:0011668,MedGen:C1853371,OMIM:606394,Orphanet:552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEU1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEU1 NEU1-related disorder neu1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEMF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK9 Nevus comedonicus syndrome human_phenotype_ontology_hp_0020154_mondo_mondo_0014873_medgen_c0265987_omim_617025_orphanet_64754 Human_Phenotype_Ontology:HP:0020154,MONDO:MONDO:0014873,MedGen:C0265987,OMIM:617025,Orphanet:64754 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK9 Goldberg-Shprintzen syndrome mondo_mondo_0012280_medgen_c1836123_omim_609460_orphanet_66629 MONDO:MONDO:0012280,MedGen:C1836123,OMIM:609460,Orphanet:66629 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 Mohr syndrome mondo_mondo_0009642_medgen_c0026363_omim_252100_orphanet_2751 MONDO:MONDO:0009642,MedGen:C0026363,OMIM:252100,Orphanet:2751 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS8 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS4 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS2 Mitochondrial complex I deficiency, nuclear type 6 mondo_mondo_0032611_medgen_c4748759_omim_618228 MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS1 NDUFS1-related disorder ndufs1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS1 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFC2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFC2 Mitochondrial complex I deficiency, nuclear type 36 mondo_mondo_0030902_medgen_c5436935_omim_619170 MONDO:MONDO:0030902,MedGen:C5436935,OMIM:619170 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF7 condition not provided condition_not_provided MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF6 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF6 Fanconi renotubular syndrome 5 mondo_mondo_0030056_medgen_c5394473_omim_618913 MONDO:MONDO:0030056,MedGen:C5394473,OMIM:618913 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF5 NDUFAF5-related disorder ndufaf5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA1 Mitochondrial complex I deficiency, nuclear type 12 mondo_mondo_0026720_medgen_c4746984_omim_301020 MONDO:MONDO:0026720,MedGen:C4746984,OMIM:301020 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCR3 Malaria, severe, susceptibility to medgen_c1970029 MedGen:C1970029 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1L condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 NCKAP1-associated Neurodevelopmental disorder nckap1_associated_neurodevelopmental_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCDN condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 SCO2-related disorder sco2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH Microcephaly 23, primary, autosomal recessive mondo_mondo_0054806_medgen_c4693843_omim_617985 MONDO:MONDO:0054806,MedGen:C4693843,OMIM:617985 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Ovarian carcinoma human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA NBEA-related disorder nbea_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Monogenic short statue monogenic_short_statue . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALF1 BRCA2-related cancer predisposition mondo_mondo_0700269_medgen_cn377758 MONDO:MONDO:0700269,MedGen:CN377758 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Thick eyebrow human_phenotype_ontology_hp_0000574_human_phenotype_ontology_hp_0004546_medgen_c1853487 Human_Phenotype_Ontology:HP:0000574,Human_Phenotype_Ontology:HP:0004546,MedGen:C1853487 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Sanfilippo syndrome mondo_mondo_0018937_medgen_c0026706_orphanet_581 MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Mucopolysacchariduria human_phenotype_ontology_hp_0003567_human_phenotype_ontology_hp_0008155_medgen_c4024726 Human_Phenotype_Ontology:HP:0003567,Human_Phenotype_Ontology:HP:0008155,MedGen:C4024726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Hypertrichosis human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Hepatosplenomegaly human_phenotype_ontology_hp_0001433_medgen_c0019214 Human_Phenotype_Ontology:HP:0001433,MedGen:C0019214 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Coarse facial features human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAF1 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 mondo_mondo_0957261_medgen_c5830485_omim_620365 MONDO:MONDO:0957261,MedGen:C5830485,OMIM:620365 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NADSYN1 NADSYN1-related disorder nadsyn1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NADK2 Progressive encephalopathy with leukodystrophy due to DECR deficiency mondo_mondo_0014464_medgen_c1857252_omim_616034_orphanet_431361 MONDO:MONDO:0014464,MedGen:C1857252,OMIM:616034,Orphanet:431361 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NACC1 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination mondo_mondo_0044306_medgen_c4479333_omim_617393_orphanet_500545 MONDO:MONDO:0044306,MedGen:C4479333,OMIM:617393,Orphanet:500545 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NACC1 NACC1-related disorder nacc1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA20 Intellectual developmental disorder, autosomal recessive 73 mondo_mondo_0030533_medgen_c5676902_omim_619717 MONDO:MONDO:0030533,MedGen:C5676902,OMIM:619717 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 NAA10-related disorder naa10_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MZT2A Keratoconus 9 mondo_mondo_0054771_medgen_c4693660_omim_617928 MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L MYT1L-related disorder myt1l_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Disorder of sexual differentiation mondo_mondo_0002145_medgen_c2930619_orphanet_90771 MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOCD Prune belly syndrome human_phenotype_ontology_hp_0004392_mondo_mondo_0007032_medgen_c0033770_omim_100100_orphanet_2970 Human_Phenotype_Ontology:HP:0004392,MONDO:MONDO:0007032,MedGen:C0033770,OMIM:100100,Orphanet:2970 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO9A Myasthenic syndrome, congenital, 24, presynaptic mondo_mondo_0032597_medgen_c4748684_omim_618198 MONDO:MONDO:0032597,MedGen:C4748684,OMIM:618198 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Hearing loss medgen_c3887873 MedGen:C3887873 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO18B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Congenital sensorineural hearing impairment human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYMK condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYLK Visceral myopathy 1 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL3 Hypertrophic cardiomyopathy 8 mondo_mondo_0012111_medgen_c1837471_omim_608751 MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH8 Hecht syndrome mondo_mondo_0008016_medgen_c0265226_omim_158300_orphanet_3377 MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7B MYH7B-related hypertrophic cardiomyopathy myh7b_related_hypertrophic_cardiomyopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 MYH6-related disorder myh6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Dilated cardiomyopathy 1EE mondo_mondo_0013198_medgen_c2750466_omim_613252_orphanet_154 MONDO:MONDO:0013198,MedGen:C2750466,OMIM:613252,Orphanet:154 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Atrial septal defect 3 mondo_mondo_0013567_medgen_c3279790_omim_614089_orphanet_1478 MONDO:MONDO:0013567,MedGen:C3279790,OMIM:614089,Orphanet:1478 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 Distal arthrogryposis human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH2 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH14 MYH14-related disorder myh14_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYF5 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYF5 Ophthalmoplegia, external, with rib and vertebral anomalies mondo_mondo_0032565_medgen_c4748418_omim_618155 MONDO:MONDO:0032565,MedGen:C4748418,OMIM:618155 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYF5 External ophthalmoplegia human_phenotype_ontology_hp_0000544_human_phenotype_ontology_hp_0007762_medgen_c0162292 Human_Phenotype_Ontology:HP:0000544,Human_Phenotype_Ontology:HP:0007762,MedGen:C0162292 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYF5 Abnormal rib morphology human_phenotype_ontology_hp_0000772_human_phenotype_ontology_hp_0006618_medgen_c1842083 Human_Phenotype_Ontology:HP:0000772,Human_Phenotype_Ontology:HP:0006618,MedGen:C1842083 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYCN Feingold syndrome mondo_mondo_0015267_medgen_c0796068_omim_ps164280_orphanet_1305 MONDO:MONDO:0015267,MedGen:C0796068,OMIM:PS164280,Orphanet:1305 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Left ventricular noncompaction 1 mondo_mondo_0011403_medgen_c1858725_omim_604169_orphanet_54260 MONDO:MONDO:0011403,MedGen:C1858725,OMIM:604169,Orphanet:54260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Left ventricular noncompaction human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Asymmetric septal hypertrophy human_phenotype_ontology_hp_0001670_medgen_c0205700 Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC1 MYBPC1-related disorder mybpc1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVD MVD-related disorder mvd_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Pilocytic astrocytoma human_phenotype_ontology_hp_0033680_mondo_mondo_0016691_medgen_c0334583_orphanet_251612 Human_Phenotype_Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Medulloblastoma SHH activated and TP53 wild-type mondo_mondo_0956965_medgen_cn377554 MONDO:MONDO:0956965,MedGen:CN377554 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Inherited polyposis and early onset colorectal cancer - germline testing inherited_polyposis_and_early_onset_colorectal_cancer_germline_testing . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Diffuse midline glioma, H3 K27-altered mondo_mondo_1060171_medgen_c5669877 MONDO:MONDO:1060171,MedGen:C5669877 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUS81 Cutis laxa, autosomal recessive, type 1B mondo_mondo_0013754_medgen_c3280798_omim_614437_orphanet_90349 MONDO:MONDO:0013754,MedGen:C3280798,OMIM:614437,Orphanet:90349 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTTP Metabolic syndrome X mondo_mondo_0011565_medgen_c4552048_omim_605552 MONDO:MONDO:0011565,MedGen:C4552048,OMIM:605552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRR MTRR-related disorder mtrr_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRR Disorders of Intracellular Cobalamin Metabolism disorders_of_intracellular_cobalamin_metabolism MedGen:CN043592 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Homocystinuria human_phenotype_ontology_hp_0002156_mondo_mondo_0004737_medgen_c0019880 Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Decreased methionine synthase activity human_phenotype_ontology_hp_0003524_medgen_c1848580 Human_Phenotype_Ontology:HP:0003524,MedGen:C1848580 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR MTOR-related disorder mtor_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR10 FAN1-related disorder fan1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTIF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFS condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT MTFMT-related disorder mtfmt_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT MTFMT-Related Disorders mtfmt_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTAP Diaphyseal medullary stenosis-bone malignancy syndrome mondo_mondo_0007205_medgen_c1862177_omim_112250_orphanet_85182 MONDO:MONDO:0007205,MedGen:C1862177,OMIM:112250,Orphanet:85182 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX1 Orofacial cleft 5 mondo_mondo_0012142_medgen_c1837210_omim_608874 MONDO:MONDO:0012142,MedGen:C1837210,OMIM:608874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSR1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Inherited prostate cancer inherited_prostate_cancer . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Inherited polyposis and early onset colorectal cancer - germline testing inherited_polyposis_and_early_onset_colorectal_cancer_germline_testing . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Hereditary nonpolyposis colorectal carcinoma human_phenotype_ontology_hp_0006716_medgen_c4024989 Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Inherited ovarian cancer (without breast cancer) inherited_ovarian_cancer_without_breast_cancer . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Familial colorectal cancer mondo_mondo_0023113_medgen_cn280943 MONDO:MONDO:0023113,MedGen:CN280943 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Colon cancer human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS34 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS22 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL49 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL44 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL39 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRM2 Mitochondrial DNA depletion syndrome 17 mondo_mondo_0032815_medgen_c5231412_omim_618567 MONDO:MONDO:0032815,MedGen:C5231412,OMIM:618567 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRAS condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZL2 MPZL2-related disorder mpzl2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT medgen_c4016264 MedGen:C4016264 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS medgen_c4016266 MedGen:C4016266 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Autosomal dominant MPZ-related disorders autosomal_dominant_mpz_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mondo_mondo_0014943_medgen_c4310690_omim_617156 MONDO:MONDO:0014943,MedGen:C4310690,OMIM:617156 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPO Alzheimer disease type 1 mondo_mondo_0007088_medgen_c1863052_omim_104300 MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPI MPI-related disorder mpi_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOV10L1 Spermatogenic failure 73 mondo_mondo_0030818_medgen_c5676988_omim_619878 MONDO:MONDO:0030818,MedGen:C5676988,OMIM:619878 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOV10L1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS1 Combined molybdoflavoprotein enzyme deficiency human_phenotype_ontology_hp_0003570_mondo_mondo_0020480_medgen_c0268119_omim_ps252150_orphanet_833_orphanet_99732 Human_Phenotype_Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150,Orphanet:833,Orphanet:99732 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCOS MOCOS-related disorder mocos_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT Methylmalonic aciduria human_phenotype_ontology_hp_0012120_medgen_c1855119 Human_Phenotype_Ontology:HP:0012120,MedGen:C1855119 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP21 Visceral heterotaxy mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP14 Winchester syndrome mondo_mondo_0010201_medgen_c0432289_omim_277950_orphanet_3460_orphanet_371428 MONDO:MONDO:0010201,MedGen:C0432289,OMIM:277950,Orphanet:3460,Orphanet:371428 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency mondo_mondo_0009612_medgen_c1855114_omim_251000_orphanet_27 MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAB MMAB-related disorder mmab_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLX Ovarian dysgenesis 3 mondo_mondo_0013689_medgen_c3280471_omim_614324_orphanet_243 MONDO:MONDO:0013689,MedGen:C3280471,OMIM:614324,Orphanet:243 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH3 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Colonic neoplasm human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Polydactyly human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS BARDET-BIEDL SYNDROME 2/6, DIGENIC medgen_c4016908 MedGen:C4016908 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINPP1 Thyroid cancer, nonmedullary, 2 mondo_mondo_0008566_medgen_c4225426_omim_188470 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MILR1 POLG2-related disorder polg2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIEF1 Optic atrophy 14 mondo_mondo_0957824_medgen_c5882708_omim_620550 MONDO:MONDO:0957824,MedGen:C5882708,OMIM:620550 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MID1 MID1-related disorder mid1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICU1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICOS13 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICOS13 Combined oxidative phosphorylation deficiency 37 mondo_mondo_0032679_medgen_c5193031_omim_618329 MONDO:MONDO:0032679,MedGen:C5193031,OMIM:618329 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICAL1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICAL1 Epilepsy, familial temporal lobe, 1 mondo_mondo_0700090_medgen_cn030884_omim_600512_orphanet_101046 MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGP condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Charcot-Marie-Tooth disease, type 2A medgen_c2079538 MedGen:C2079538 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL5 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL23 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Pediatric hepatocellular carcinoma mondo_mondo_0018055_medgen_c0279606_orphanet_33402 MONDO:MONDO:0018055,MedGen:C0279606,Orphanet:33402 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Autosomal recessive nonsyndromic hearing loss 97 mondo_mondo_0014739_medgen_c4084709_omim_616705_orphanet_90636 MONDO:MONDO:0014739,MedGen:C4084709,OMIM:616705,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Arthrogryposis, distal, IIa 11 mondo_mondo_0031045_medgen_c5774205_omim_620019 MONDO:MONDO:0031045,MedGen:C5774205,OMIM:620019 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MERTK MERTK-related disorder mertk_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEOX1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Somatotroph adenoma mondo_mondo_0007052_medgen_c4538355_omim_102200_orphanet_314777_orphanet_963 MONDO:MONDO:0007052,MedGen:C4538355,OMIM:102200,Orphanet:314777,Orphanet:963 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Primary hyperparathyroidism human_phenotype_ontology_hp_0008200_human_phenotype_ontology_hp_0008254_mondo_mondo_0010837_medgen_c0221002 Human_Phenotype_Ontology:HP:0008200,Human_Phenotype_Ontology:HP:0008254,MONDO:MONDO:0010837,MedGen:C0221002 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Parathyroid gland adenoma human_phenotype_ontology_hp_0002897_human_phenotype_ontology_hp_0008257_mondo_mondo_0006890_medgen_c0262587 Human_Phenotype_Ontology:HP:0002897,Human_Phenotype_Ontology:HP:0008257,MONDO:MONDO:0006890,MedGen:C0262587 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 MEN1-related disorder men1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Angiofibroma, somatic medgen_c4017331 MedGen:C4017331 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIS2 MEIS2-related disorder meis2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIS2 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C MEF2C-related disorder mef2c_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2A Coronary artery disease/myocardial infarction coronary_artery_disease_myocardial_infarction . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2A Coronary artery disease, autosomal dominant, 1 mondo_mondo_0012011_medgen_c1842247_omim_608320 MONDO:MONDO:0012011,MedGen:C1842247,OMIM:608320 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED24 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED23 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED16 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Impaired intellectual development and distinctive facial features with cardiac defects medgen_c4225516 MedGen:C4225516 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECR Optic atrophy 16 mondo_mondo_0957978_medgen_c5882723_omim_620629 MONDO:MONDO:0957978,MedGen:C5882723,OMIM:620629 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECR Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome encephalopathy_neonatal_severemental_retardation_x_linked_syndromic_13rett_syndrome . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Atypical Rett syndrome mondo_mondo_0017746_medgen_c2748910_orphanet_3095 MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:3095 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDH2 Infantile encephalopathy human_phenotype_ontology_hp_0006948_human_phenotype_ontology_hp_0007105_human_phenotype_ontology_hp_0007309_human_phenotype_ontology_hp_0007353_medgen_c1856408 Human_Phenotype_Ontology:HP:0006948,Human_Phenotype_Ontology:HP:0007105,Human_Phenotype_Ontology:HP:0007309,Human_Phenotype_Ontology:HP:0007353,MedGen:C1856408 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCPH1 Lymphatic malformation 10 mondo_mondo_0023662_medgen_c5543531_omim_619369 MONDO:MONDO:0023662,MedGen:C5543531,OMIM:619369 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Periventricular leukomalacia human_phenotype_ontology_hp_0006970_mondo_mondo_0015742_medgen_c0023529 Human_Phenotype_Ontology:HP:0006970,MONDO:MONDO:0015742,MedGen:C0023529 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Growth delay human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Delayed myelination human_phenotype_ontology_hp_0012448_medgen_c1277241 Human_Phenotype_Ontology:HP:0012448,MedGen:C1277241 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Corneal opacity human_phenotype_ontology_hp_0007844_human_phenotype_ontology_hp_0007883_human_phenotype_ontology_hp_0007957_human_phenotype_ontology_hp_0008502_medgen_c0010038 Human_Phenotype_Ontology:HP:0007844,Human_Phenotype_Ontology:HP:0007883,Human_Phenotype_Ontology:HP:0007957,Human_Phenotype_Ontology:HP:0008502,MedGen:C0010038 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Atrophy/Degeneration affecting the brainstem human_phenotype_ontology_hp_0007366_medgen_c4024900 Human_Phenotype_Ontology:HP:0007366,MedGen:C4024900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCMDC2 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM9 Premature ovarian failure 1 mondo_mondo_0010706_medgen_c4552079_omim_311360_orphanet_642691 MONDO:MONDO:0010706,MedGen:C4552079,OMIM:311360,Orphanet:642691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Trichiasis human_phenotype_ontology_hp_0001128_medgen_c0221259 Human_Phenotype_Ontology:HP:0001128,MedGen:C0221259 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Psychomotor retardation medgen_c5441816 MedGen:C5441816 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Progeroid facial appearance human_phenotype_ontology_hp_0000335_human_phenotype_ontology_hp_0005328_human_phenotype_ontology_hp_0005333_medgen_c1857710 Human_Phenotype_Ontology:HP:0000335,Human_Phenotype_Ontology:HP:0005328,Human_Phenotype_Ontology:HP:0005333,MedGen:C1857710 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Hypermetropia human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Deeply set eye human_phenotype_ontology_hp_0000490_human_phenotype_ontology_hp_0000663_mondo_mondo_0001210_medgen_c0423224 Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Astigmatism human_phenotype_ontology_hp_0000483_mondo_mondo_0011284_medgen_c0004106_omim_603047 Human_Phenotype_Ontology:HP:0000483,MONDO:MONDO:0011284,MedGen:C0004106,OMIM:603047 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM7 Anisometropia human_phenotype_ontology_hp_0012803_mondo_mondo_0001478_medgen_c0003081 Human_Phenotype_Ontology:HP:0012803,MONDO:MONDO:0001478,MedGen:C0003081 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM4 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency mondo_mondo_0012383_medgen_c1864947_omim_609981_orphanet_75391 MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM3AP MCM3AP-related disorder mcm3ap_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM10 Fetal Cardiomyopathy medgen_c3532247 MedGen:C3532247 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Factor V and factor VIII, combined deficiency of, type 1 mondo_mondo_0009206_medgen_c4551981_omim_227300_orphanet_35909 MONDO:MONDO:0009206,MedGen:C4551981,OMIM:227300,Orphanet:35909 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCEE Methylmalonic acidemia human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCC Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCAT Optic atrophy 15 mondo_mondo_0957935_medgen_c5882716_omim_620583 MONDO:MONDO:0957935,MedGen:C5882716,OMIM:620583 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS2 Osteogenesis imperfecta, type 19 mondo_mondo_0049223_medgen_c4746956_omim_301014 MONDO:MONDO:0049223,MedGen:C4746956,OMIM:301014 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBOAT7 MBOAT7-related disorder mboat7_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD5 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAX Pheochromocytoma human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAU2 condition not provided condition_not_provided . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAU2 MAU2-related chromatinopathy mau2_related_chromatinopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAT1A MAT1A-related disorder mat1a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAST4 Infantile spasms human_phenotype_ontology_hp_0012469_medgen_c3887898 Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAST3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARVELD2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARVELD2 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARS2 Combined oxidative phosphorylation defect type 25 mondo_mondo_0014636_medgen_c5567742_omim_616430_orphanet_447954 MONDO:MONDO:0014636,MedGen:C5567742,OMIM:616430,Orphanet:447954 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARS1 condition not provided condition_not_provided MedGen:CN169374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Progressive supranuclear ophthalmoplegia medgen_c4551862 MedGen:C4551862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPKBP1 MAPKBP1-related disorder mapkbp1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K1 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 MAP2K2-related disorder map2k2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Extracranial arteriovenous malformation extracranial_arteriovenous_malformation . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Cardiofaciocutaneous syndrome 1 mondo_mondo_0007265_medgen_cn029449_omim_115150_orphanet_1340 MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAOA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B2 Congenital disorder of glycosylation type 1EE with or without immunodeficiency mondo_mondo_0976261_medgen_c6012707_omim_621140_orphanet_695110 MONDO:MONDO:0976261,MedGen:C6012707,OMIM:621140,Orphanet:695110 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2A2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAK MAK-related disorder mak_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGT1 Congenital disorder of glycosylation, type ICC mondo_mondo_0026729_medgen_c5231393_omim_301031 MONDO:MONDO:0026729,MedGen:C5231393,OMIM:301031 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGT1 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Developmental disorder medgen_c0008073 MedGen:C0008073 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB MAFB-related disorder mafb_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFA Islet cell adenomatosis mondo_mondo_0007834_medgen_c1578917_omim_147630 MONDO:MONDO:0007834,MedGen:C1578917,OMIM:147630 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF MAF-related disorder maf_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAEL Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAD1L1 Mosaic variegated aneuploidy syndrome 1 mondo_mondo_0009759_medgen_c1850343_omim_257300_orphanet_1052 MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MACF1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MACF1 Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence M1AP Spermatogenic failure 48 mondo_mondo_0030846_medgen_c5436823_omim_619108 MONDO:MONDO:0030846,MedGen:C5436823,OMIM:619108 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTS1 Esophageal squamous cell carcinoma, somatic medgen_c4016881 MedGen:C4016881 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Monogenic short statue monogenic_short_statue . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTFL1 LZTFL1-related disorder lztfl1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTFL1 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYZ condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYZ Familial visceral amyloidosis, Ostertag type mondo_mondo_0007099_medgen_c0268389_omim_105200_orphanet_85450 MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYZ Amyloidosis, hereditary systemic 5 mondo_mondo_0971009_medgen_c5935572_omim_620658 MONDO:MONDO:0971009,MedGen:C5935572,OMIM:620658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST CHEDIAK-HIGASHI SYNDROME, ADULT TYPE medgen_c4016993 MedGen:C4016993 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYSET Dysostosis multiplex, Ain-Naz type mondo_mondo_0859156_medgen_c5444223_omim_619345 MONDO:MONDO:0859156,MedGen:C5444223,OMIM:619345 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP3 Heritable Thoracic Aortic Disease heritable_thoracic_aortic_disease MedGen:CN868256 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Glaucoma 3, primary infantile, B mondo_mondo_0010968_medgen_c1832977_omim_600975_orphanet_98976 MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRSAM1 LZTR1-related schwannomatosis mondo_mondo_0014299_medgen_c3810283_omim_615670_orphanet_93921 MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRSAM1 Charcot-Marie-Tooth disease axonal type 2P-AR charcot_marie_tooth_disease_axonal_type_2p_ar . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK2 Parkinson disease, late-onset mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC8C Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature mondo_mondo_0975957_medgen_c5975557_omim_621056 MONDO:MONDO:0975957,MedGen:C5975557,OMIM:621056 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC7 LRRC7-associated obesity and neurodevelopmental disorder lrrc7_associated_obesity_and_neurodevelopmental_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC7 Intellectual developmental disorder, autosomal dominant 77 mondo_mondo_0980748_medgen_cn380316_omim_621415 MONDO:MONDO:0980748,MedGen:CN380316,OMIM:621415 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Vascular Tumors Including Pyogenic Granuloma vascular_tumors_including_pyogenic_granuloma . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Noonan syndrome 3 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Arteriovenous malformation human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC41 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 GOSR2-related disorder gosr2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC23 Spermatogenic failure 92 mondo_mondo_0970999_medgen_c5935625_omim_620848 MONDO:MONDO:0970999,MedGen:C5935625,OMIM:620848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRPPRC LRPPRC-related disorder lrpprc_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 LRP6-related disorder lrp6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Coronary artery disease, autosomal dominant 2 mondo_mondo_0012586_medgen_c1970440_omim_610947 MONDO:MONDO:0012586,MedGen:C1970440,OMIM:610947 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Postmenopausal osteoporosis mondo_mondo_0008159_medgen_c0029458 MONDO:MONDO:0008159,MedGen:C0029458 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Polycystic liver disease 1 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 High bone mass medgen_c1866080 MedGen:C1866080 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Familial exudative vitreoretinopathy mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP4 Isolated hand syndactyly isolated_hand_syndactyly . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP2 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRBA Severe combined immunodeficiency due to CORO1A deficiency mondo_mondo_0014168_medgen_c3809383_omim_615401_orphanet_228003 MONDO:MONDO:0014168,MedGen:C3809383,OMIM:615401,Orphanet:228003 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRBA LRBA-related disorder lrba_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRBA Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED medgen_c2750064 MedGen:C2750064 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN2 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN1 Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX LOX-related disorder lox_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOC128092249 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Mandibuloacral dysplasia mondo_mondo_0016584_medgen_c0432291_omim_ps248370_orphanet_2457 MONDO:MONDO:0016584,MedGen:C0432291,OMIM:PS248370,Orphanet:2457 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Lipodystrophy human_phenotype_ontology_hp_0009125_mondo_mondo_0006573_medgen_c0023787 Human_Phenotype_Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C0023787 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Dilated cardiomyopathy 1S mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Arrhythmogenic right ventricular dysplasia 9 mondo_mondo_0012180_medgen_c1836906_omim_609040 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 LMBRD2-related disorder lmbrd2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD1 LMBRD1-related disorder lmbrd1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1L DSD incomplete virilization dsd_incomplete_virilization . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 Triphalangeal thumb-polysyndactyly syndrome mondo_mondo_0017454_medgen_c5779878_omim_190605 MONDO:MONDO:0017454,MedGen:C5779878,OMIM:190605 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMAN2L Intellectual disability, autosomal recessive 52 mondo_mondo_0014815_medgen_c4225168_omim_616887_orphanet_88616 MONDO:MONDO:0014815,MedGen:C4225168,OMIM:616887,Orphanet:88616 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMAN1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LITAF condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities mondo_mondo_0060562_medgen_c4540052_omim_617668_orphanet_447795 MONDO:MONDO:0060562,MedGen:C4540052,OMIM:617668,Orphanet:447795 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPH LIPH-related disorder liph_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPE Lipodystrophy - childhood onset lipodystrophy_childhood_onset . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPC Hyperlipidemia due to hepatic triglyceride lipase deficiency mondo_mondo_0013533_medgen_c3151466_omim_614025_orphanet_140905 MONDO:MONDO:0013533,MedGen:C3151466,OMIM:614025,Orphanet:140905 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPC Abnormal circulating lipid concentration human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPA Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LINGO1 Intellectual disability, autosomal recessive 64 mondo_mondo_0020846_medgen_c4748192_omim_618103 MONDO:MONDO:0020846,MedGen:C4748192,OMIM:618103 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Precocious puberty in males human_phenotype_ontology_hp_0008185_medgen_c1859979 Human_Phenotype_Ontology:HP:0008185,MedGen:C1859979 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGR4 Delayed puberty, self-limited mondo_mondo_0859205_medgen_c2874202_omim_619613 MONDO:MONDO:0859205,MedGen:C2874202,OMIM:619613 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI1 LGI1-related disorder lgi1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 Osteopoikilosis human_phenotype_ontology_hp_0010739_mondo_mondo_0001414_medgen_c0029455 Human_Phenotype_Ontology:HP:0010739,MONDO:MONDO:0001414,MedGen:C0029455 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 Multiple monogenic benign skin tumours multiple_monogenic_benign_skin_tumours . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 Melorheostosis with osteopoikilosis mondo_mondo_0015995_medgen_c3149695_orphanet_1879 MONDO:MONDO:0015995,MedGen:C3149695,Orphanet:1879 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 Dermatofibrosis lenticularis disseminata, isolated medgen_c3149399 MedGen:C3149399 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEF1 Ectrodactyly human_phenotype_ontology_hp_0100257_mondo_mondo_0016576_medgen_c0265554_omim_ps183600_orphanet_2440 Human_Phenotype_Ontology:HP:0100257,MONDO:MONDO:0016576,MedGen:C0265554,OMIM:PS183600,Orphanet:2440 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Hypercholesterolemia, familial, 4 mondo_mondo_0011374_medgen_c1863512_omim_603813_orphanet_391665 MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Familial type 3 hyperlipoproteinemia mondo_mondo_0018473_medgen_c0020479_omim_617347_orphanet_412 MONDO:MONDO:0018473,MedGen:C0020479,OMIM:617347,Orphanet:412 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Early-onset coronary artery disease medgen_c4229399 MedGen:C4229399 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Abnormal circulating lipid concentration human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDHD Abnormal circulating lactate dehydrogenase concentration human_phenotype_ontology_hp_0045040_medgen_c4073168 Human_Phenotype_Ontology:HP:0045040,MedGen:C4073168 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCAT LCAT-related disorder lcat_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR Reynolds syndrome mondo_mondo_0013276_medgen_c0748397_omim_613471_orphanet_779 MONDO:MONDO:0013276,MedGen:C0748397,OMIM:613471,Orphanet:779 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBR Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia anadysplasia_like_spontaneously_remitting_spondylometaphyseal_dysplasia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 LARS2-related disorder lars2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 LARS2-Related Disorders lars2_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARGE1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 Epidermolysis bullosa mondo_mondo_0006541_mesh_d004820_medgen_c0014527 MONDO:MONDO:0006541,MeSH:D004820,MedGen:C0014527 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB1 Classic lissencephaly human_phenotype_ontology_hp_0006818_mondo_mondo_0015146_medgen_c0431375_orphanet_102009 Human_Phenotype_Ontology:HP:0006818,MONDO:MONDO:0015146,MedGen:C0431375,Orphanet:102009 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA4 Dilated cardiomyopathy 1JJ mondo_mondo_0014095_medgen_c3808935_omim_615235_orphanet_154 MONDO:MONDO:0014095,MedGen:C3808935,OMIM:615235,Orphanet:154 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Qualitative or quantitative defects of merosin qualitative_or_quantitative_defects_of_merosin MedGen:CN226848,Orphanet:207094 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Congenital muscular dystrophy human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA1 LAMA1-related disorder lama1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LACC1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L3HYPDH NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND IMPAIRED INTELLECTUAL AND LANGUAGE DEVELOPMENT neurodevelopmental_disorder_with_seizures_and_impaired_intellectual_and_language_development MedGen:CN381014,OMIM:621533 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L3HYPDH JKAMP-associated neurodevelopmental disease jkamp_associated_neurodevelopmental_disease . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM X-linked L1CAM-related disorders x_linked_l1cam_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM L1CAM-related disorders l1cam_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT86 Monilethrix-2 mondo_mondo_0700341_medgen_c6012713_omim_621169 MONDO:MONDO:0700341,MedGen:C6012713,OMIM:621169 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT83 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT83 Monilethrix-3 mondo_mondo_0700342_medgen_c6012714_omim_621170 MONDO:MONDO:0700342,MedGen:C6012714,OMIM:621170 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT81 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT81 Monilethrix-2 mondo_mondo_0700341_medgen_c6012713_omim_621169 MONDO:MONDO:0700341,MedGen:C6012713,OMIM:621169 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT74 Autosomal dominant wooly hair mondo_mondo_0020717_medgen_c1860238_omim_194300_orphanet_170 MONDO:MONDO:0020717,MedGen:C1860238,OMIM:194300,Orphanet:170 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT6C Focal palmoplantar keratoderma mondo_mondo_0017672_medgen_c2931923_orphanet_307837 MONDO:MONDO:0017672,MedGen:C2931923,Orphanet:307837 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex, Koebner type mondo_mondo_0007554_medgen_c5561924_omim_131900_orphanet_79399 MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa mondo_mondo_0006541_mesh_d004820_medgen_c0014527 MONDO:MONDO:0006541,MeSH:D004820,MedGen:C0014527 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE epidermolysis_bullosa_simplex_2d_generalized_severe_autosomal_recessive . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT25 Wooly hair, autosomal recessive 3 mondo_mondo_0014765_medgen_c4225214_omim_616760_orphanet_170 MONDO:MONDO:0014765,MedGen:C4225214,OMIM:616760,Orphanet:170 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT13 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT13 White sponge nevus 2 mondo_mondo_0014346_medgen_c4014321_omim_615785 MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Palmoplantar keratoderma, epidermolytic, 2 mondo_mondo_0957303_medgen_c2936837_omim_620411 MONDO:MONDO:0957303,MedGen:C2936837,OMIM:620411 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Keratosis palmoplantaris striata 3 mondo_mondo_0011881_medgen_c2931123_omim_607654 MONDO:MONDO:0011881,MedGen:C2931123,OMIM:607654 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 KRT1-related disorder krt1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 Hereditary cavernous hemangioma of brain mondo_mondo_0031037_medgen_c2931263_omim_ps116860_orphanet_221061 MONDO:MONDO:0031037,MedGen:C2931263,OMIM:PS116860,Orphanet:221061 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 Cavernous hemangioma human_phenotype_ontology_hp_0001048_mondo_mondo_0003155_medgen_c0018920 Human_Phenotype_Ontology:HP:0001048,MONDO:MONDO:0003155,MedGen:C0018920 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Lung carcinoma mondo_mondo_0005138_medgen_c0684249 MONDO:MONDO:0005138,MedGen:C0684249 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Gallbladder cancer mondo_mondo_0005411_medgen_c0153452 MONDO:MONDO:0005411,MedGen:C0153452 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KPTN KPTN-related disorder kptn_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KPTN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KPNA7 Oocyte/zygote/embryo maturation arrest 17 mondo_mondo_0957220_medgen_c5830418_omim_620319 MONDO:MONDO:0957220,MedGen:C5830418,OMIM:620319 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KPNA3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNG1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNG1 Angioedema, hereditary, 6 mondo_mondo_0023660_medgen_c5543516_omim_619363 MONDO:MONDO:0023660,MedGen:C5543516,OMIM:619363 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Lymphoma human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Complex neurodevelopmental disorder with motor features mondo_mondo_0100516_medgen_cn322244 MONDO:MONDO:0100516,MedGen:CN322244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLKB1 KLKB1-related disorder klkb1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLK4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLK4 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLK11 Ichthyosis with erythrokeratoderma mondo_mondo_0957783_medgen_c5882691_omim_620507 MONDO:MONDO:0957783,MedGen:C5882691,OMIM:620507 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL41 condition not provided condition_not_provided MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL24 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL24 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies mondo_mondo_0859372_medgen_c5774308_omim_620236 MONDO:MONDO:0859372,MedGen:C5774308,OMIM:620236 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL20 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF1 KLF1-related disorder klf1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIZ KIZ-related retinopathy mondo_mondo_0700232_medgen_cn375907 MONDO:MONDO:0700232,MedGen:CN375907 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KITLG condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT KIT-related disorder kit_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia mondo_mondo_0013915_medgen_c3541462_omim_614842_orphanet_432 MONDO:MONDO:0013915,MedGen:C3541462,OMIM:614842,Orphanet:432 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIRREL3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIRREL1 Nephrotic syndrome, type 23 mondo_mondo_0030962_medgen_c5543092_omim_619201 MONDO:MONDO:0030962,MedGen:C5543092,OMIM:619201 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 Joubert syndrome 12 medgen_c3277723 MedGen:C3277723 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF4A Taurodontism, microdontia, and dens invaginatus mondo_mondo_0010740_medgen_c1839235_omim_313490 MONDO:MONDO:0010740,MedGen:C1839235,OMIM:313490 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF3B Retinitis pigmentosa 89 mondo_mondo_0030071_medgen_c5394552_omim_618955 MONDO:MONDO:0030071,MedGen:C5394552,OMIM:618955 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF2A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF22 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF20A Cardiomyopathy, familial restrictive, 6 mondo_mondo_0030330_medgen_c5543638_omim_619433 MONDO:MONDO:0030330,MedGen:C5543638,OMIM:619433 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1C KIF1C-related disorder kif1c_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1B Charcot-Marie-Tooth disease type 2A1 mondo_mondo_0007308_medgen_c1861678_omim_118210_orphanet_99946 MONDO:MONDO:0007308,MedGen:C1861678,OMIM:118210,Orphanet:99946 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF15 Braddock-carey syndrome 2 mondo_mondo_0859570_medgen_c5774189_omim_619981 MONDO:MONDO:0859570,MedGen:C5774189,OMIM:619981 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 KIF11-related disorder kif11_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA1549 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0930 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0930 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0753 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 KIAA0586- Related disorders kiaa0586_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KGD4 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDSR condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDR condition not provided condition_not_provided MedGen:CN169374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C KDM5C-related disorder kdm5c_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B KDM3B-related disorder kdm3b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM2A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDF1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT2 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT2 KCNT2-related disorder kcnt2_related_disorder MedGen:CN236796 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 KCNQ3-related disorder kcnq3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Seizures, benign familial neonatal, 2 mondo_mondo_0007366_medgen_c1852581_omim_121201_orphanet_1949 MONDO:MONDO:0007366,MedGen:C1852581,OMIM:121201,Orphanet:1949 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Seizures, benign familial neonatal, 1, and/or myokymia medgen_c3149075 MedGen:C3149075 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Neonatal encephalopathy medgen_c0235820 MedGen:C0235820 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Jervell and Lange-Nielsen syndrome 1 mondo_mondo_0024540_medgen_c4551509_omim_220400_orphanet_768_orphanet_90647 MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Atrial fibrillation, familial, 3 mondo_mondo_0011857_medgen_c1837014_omim_607554 MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Long QT syndrome 1, recessive medgen_c4017089 MedGen:C4017089 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Atrial fibrillation efo_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Atrial fibrillation efo_the_experimental_factor_ontology_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 EFO:_The_Experimental_Factor_Ontology:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Motor tics human_phenotype_ontology_hp_0100034_medgen_c0751900 Human_Phenotype_Ontology:HP:0100034,MedGen:C0751900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Dystonia 34, myoclonic mondo_mondo_0030538_medgen_c5676907_omim_619724 MONDO:MONDO:0030538,MedGen:C5676907,OMIM:619724 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK4 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK4 Gingival overgrowth human_phenotype_ontology_hp_0000195_human_phenotype_ontology_hp_0000212_mondo_mondo_0002507_medgen_c0376480 Human_Phenotype_Ontology:HP:0000195,Human_Phenotype_Ontology:HP:0000212,MONDO:MONDO:0002507,MedGen:C0376480 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK4 Generalized hypertrichosis human_phenotype_ontology_hp_0004543_human_phenotype_ontology_hp_0004554_human_phenotype_ontology_hp_0004766_medgen_c3277940 Human_Phenotype_Ontology:HP:0004543,Human_Phenotype_Ontology:HP:0004554,Human_Phenotype_Ontology:HP:0004766,MedGen:C3277940 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK4 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome mondo_mondo_0032714_medgen_c5193066_omim_618381_orphanet_598603 MONDO:MONDO:0032714,MedGen:C5193066,OMIM:618381,Orphanet:598603 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK4 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ5 Aldosterone-producing adrenal adenoma, somatic medgen_c4017656 MedGen:C4017656 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ16 KCNJ16-related disorder kcnj16_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Hyperinsulinemia human_phenotype_ontology_hp_0000842_mondo_mondo_0002177_medgen_c0020459 Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 SeSAME-like syndrome sesame_like_syndrome . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Prolonged QT interval human_phenotype_ontology_hp_0001657_medgen_c0151878 Human_Phenotype_Ontology:HP:0001657,MedGen:C0151878 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Long QT syndrome 1/2, digenic medgen_c3277700 MedGen:C3277700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 Long QT syndrome 5 mondo_mondo_0013372_medgen_c1867904_omim_613695_orphanet_101016_orphanet_768 MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND2 KCND2-related neurodevelopmental disorder kcnd2_related_neurodevelopmental_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA3 KCNA3-associated disorder kcna3_associated_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNB1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNB1 KATNB1-related disorder katnb1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B KAT6B-related multiple congenital anomalies syndrome mondo_mondo_0036042_medgen_c5680266_orphanet_597749 MONDO:MONDO:0036042,MedGen:C5680266,Orphanet:597749 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B KAT6B-Related Spectrum Disorders kat6b_related_spectrum_disorders MedGen:CN239406 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANK2 Nephrotic syndrome 16 mondo_mondo_0033280_medgen_c4540453_omim_617783 MONDO:MONDO:0033280,MedGen:C4540453,OMIM:617783 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JUP condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH2 Cardiomyopathy, dilated, 2E mondo_mondo_0030366_medgen_c5561970_omim_619492 MONDO:MONDO:0030366,MedGen:C5561970,OMIM:619492 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JKAMP NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND IMPAIRED INTELLECTUAL AND LANGUAGE DEVELOPMENT neurodevelopmental_disorder_with_seizures_and_impaired_intellectual_and_language_development MedGen:CN381014,OMIM:621533 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JKAMP JKAMP-associated neurodevelopmental disease jkamp_associated_neurodevelopmental_disease . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Acquired polycythemia vera mondo_mondo_0009891_mesh_d011087_medgen_c0032463_omim_263300_orphanet_729 MONDO:MONDO:0009891,MeSH:D011087,MedGen:C0032463,OMIM:263300,Orphanet:729 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAGN1 Severe congenital neutropenia mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAGN1 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency mondo_mondo_0014456_medgen_c4014954_omim_616022_orphanet_423384 MONDO:MONDO:0014456,MedGen:C4014954,OMIM:616022,Orphanet:423384 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Hepatic Ductular Hypoplasia hepatic_ductular_hypoplasia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IVNS1ABP Immunodeficiency 70 mondo_mondo_0033542_medgen_c5436501_omim_618969 MONDO:MONDO:0033542,MedGen:C5436501,OMIM:618969 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IVD Isovaleric acidemia, type I medgen_c4017056 MedGen:C4017056 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR3 Charcot-Marie-Tooth disease, demyelinating, type 1J mondo_mondo_0859311_medgen_c5774249_omim_620111 MONDO:MONDO:0859311,MedGen:C5774249,OMIM:620111 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPA Infantile epileptic dyskinetic encephalopathy mondo_mondo_0018226_medgen_c4552072_orphanet_364063 MONDO:MONDO:0018226,MedGen:C4552072,Orphanet:364063 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITM2B ABri amyloidosis mondo_mondo_0008306_medgen_c5190835_omim_176500_orphanet_439254_orphanet_97345 MONDO:MONDO:0008306,MedGen:C5190835,OMIM:176500,Orphanet:439254,Orphanet:97345 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 Junctional epidermolysis bullosa, non-Herlitz type mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 Junctional epidermolysis bullosa mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 Deficiency of galactokinase mondo_mondo_0009255_medgen_c0268155_omim_230200_orphanet_352_orphanet_79237 MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Prolonged bleeding time human_phenotype_ontology_hp_0003010_human_phenotype_ontology_hp_0008294_human_phenotype_ontology_hp_0008337_medgen_c0151529 Human_Phenotype_Ontology:HP:0003010,Human_Phenotype_Ontology:HP:0008294,Human_Phenotype_Ontology:HP:0008337,MedGen:C0151529 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 ITGB3-related disorder itgb3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB2 Leukocyte adhesion deficiency 3 mondo_mondo_0013016_medgen_c2748536_omim_612840_orphanet_2968_orphanet_99844 MONDO:MONDO:0013016,MedGen:C2748536,OMIM:612840,Orphanet:2968,Orphanet:99844 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB2 ITGB2-related disorder itgb2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA8 ITGA8-related disorder itga8_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA6 Junctional epidermolysis bullosa with pyloric atresia mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA3 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITCH condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCU condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCU Hereditary myopathy with lactic acidosis due to ISCU deficiency mondo_mondo_0009706_medgen_c1850718_omim_255125_orphanet_43115 MONDO:MONDO:0009706,MedGen:C1850718,OMIM:255125,Orphanet:43115 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Multiple mitochondrial dysfunctions syndrome 4 mondo_mondo_0014611_medgen_c4225348_omim_616370_orphanet_457406 MONDO:MONDO:0014611,MedGen:C4225348,OMIM:616370,Orphanet:457406 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRX4 Ventricular septal defect 1 mondo_mondo_0013746_medgen_c3280777_omim_614429 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRS1 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF1 Immunodeficiency 117 mondo_mondo_0958011_medgen_c5882739_omim_620668_orphanet_699615 MONDO:MONDO:0958011,MedGen:C5882739,OMIM:620668,Orphanet:699615 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IREB2 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia mondo_mondo_0032758_medgen_c5193104_omim_618451 MONDO:MONDO:0032758,MedGen:C5193104,OMIM:618451 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IREB2 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA neurodegeneration_early_onset_with_choreoathetosis_and_microcytic_anemia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK3 condition not provided condition_not_provided MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK1BP1 Early onset severe obesity medgen_c4013980 MedGen:C4013980 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Severe intellectual deficiency severe_intellectual_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC1 Intellectual developmental disorder with short stature and behavioral abnormalities mondo_mondo_0032870_medgen_c5231462_omim_618687 MONDO:MONDO:0032870,MedGen:C5231462,OMIM:618687 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCN Spermatogenic failure 78 mondo_mondo_0859338_medgen_c5774276_omim_620170 MONDO:MONDO:0859338,MedGen:C5774276,OMIM:620170 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCE IQCE-related disorder iqce_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTU Short rib-polydactyly syndrome mondo_mondo_0015461_medgen_c0036996_orphanet_1505 MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTS1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR Insulin resistance human_phenotype_ontology_hp_0000855_medgen_c0021655 Human_Phenotype_Ontology:HP:0000855,MedGen:C0021655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR INSR-related disorder insr_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Acquired polycythemia vera mondo_mondo_0009891_mesh_d011087_medgen_c0032463_omim_263300_orphanet_729 MONDO:MONDO:0009891,MeSH:D011087,MedGen:C0032463,OMIM:263300,Orphanet:729 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4B Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INO80 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INO80 Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INO80 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INO80 INO80-related immunodeficiency ino80_related_immunodeficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 Benign concentric annular macular dystrophy mondo_mondo_0007934_medgen_c5561925_omim_153870_orphanet_251287 MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870,Orphanet:251287 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPDH2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPDH2 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPA1 Intellectual disability, autosomal recessive 59 mondo_mondo_0015020_medgen_c4310619_omim_617323 MONDO:MONDO:0015020,MedGen:C4310619,OMIM:617323 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 Childhood onset hearing loss childhood_onset_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6ST Stuve-Wiedemann syndrome mondo_mondo_0031280_medgen_c0796176_omim_ps601559_orphanet_3206 MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6ST Immunodeficiency 94 with autoinflammation and dysmorphic facies mondo_mondo_0030681_medgen_c5676918_omim_619750 MONDO:MONDO:0030681,MedGen:C5676918,OMIM:619750 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL36RN condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RG SCID with features of gamma chain deficiency scid_with_features_of_gamma_chain_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RB Immunodeficiency 63 with lymphoproliferation and autoimmunity mondo_mondo_0032782_medgen_c5193126_omim_618495 MONDO:MONDO:0032782,MedGen:C5193126,OMIM:618495 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RA condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RAPL1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RAPL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RD Hypogonadotropic hypogonadism 18 with anosmia medgen_c4016983 MedGen:C4016983 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RC condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL12RB1 IL12RB1-related disorder il12rb1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10RB condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKZF3 Immunodeficiency 84 mondo_mondo_0030333_medgen_c5561940_omim_619437_orphanet_697385 MONDO:MONDO:0030333,MedGen:C5561940,OMIM:619437,Orphanet:697385 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKZF1 IKZF1-related disorder ikzf1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKB Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGSF3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGSF3 Familial congenital nasolacrimal duct obstruction mondo_mondo_0007871_medgen_c1835612_omim_149700_orphanet_451612 MONDO:MONDO:0007871,MedGen:C1835612,OMIM:149700,Orphanet:451612 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGSF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Spinal muscular atrophy human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGFBP7 Familial retinal arterial macroaneurysm mondo_mondo_0013640_medgen_c3280205_omim_614224_orphanet_284247 MONDO:MONDO:0013640,MedGen:C3280205,OMIM:614224,Orphanet:284247 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R Monogenic short statue monogenic_short_statue . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R IGF1R-related disorder igf1r_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1 Monogenic short statue monogenic_short_statue . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1 Growth delay due to insulin-like growth factor type 1 deficiency mondo_mondo_0012110_medgen_c1837475_omim_608747_orphanet_73272 MONDO:MONDO:0012110,MedGen:C1837475,OMIM:608747,Orphanet:73272 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT81 SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY short_rib_thoracic_dysplasia_19_without_polydactyly . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT81 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT80 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT57 Orofaciodigital syndrome 18 mondo_mondo_0054770_medgen_c5567903_omim_617927_orphanet_508501 MONDO:MONDO:0054770,MedGen:C5567903,OMIM:617927,Orphanet:508501 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT52 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT52 Short rib-polydactyly syndrome mondo_mondo_0015461_medgen_c0036996_orphanet_1505 MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT43 Short rib-polydactyly syndrome mondo_mondo_0015461_medgen_c0036996_orphanet_1505 MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT27 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT27 IFT27-related disorder ift27_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT27 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Short-rib thoracic dysplasia 10 with polydactyly medgen_c4017085 MedGen:C4017085 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene medgen_c5679609_orphanet_156168 MedGen:C5679609,Orphanet:156168 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Cranioectodermal dysplasia 5 mondo_mondo_0976269_medgen_c6011237_omim_621180 MONDO:MONDO:0976269,MedGen:C6011237,OMIM:621180 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Cranioectodermal dysplasia mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 Mycobacterium tuberculosis, susceptibility to medgen_c1834752_omim_607948 MedGen:C1834752,OMIM:607948 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNAR2 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection mondo_mondo_0014715_medgen_c4225260_omim_616636_orphanet_431166 MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636,Orphanet:431166 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFITM5 IFITM5-related disorder ifitm5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 IFIH1-related disorder ifih1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Interstitial pneumonitis human_phenotype_ontology_hp_0006515_medgen_c0206061 Human_Phenotype_Ontology:HP:0006515,MedGen:C0206061 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDS Mucopolysaccharidosis, type II, mild form medgen_c0342842 MedGen:C0342842 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDS Mucopolysaccharidosis type 2, severe form mondo_mondo_0016315_medgen_c0342841_orphanet_217085 MONDO:MONDO:0016315,MedGen:C0342841,Orphanet:217085 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH3G Retinitis pigmentosa 99 mondo_mondo_0978291_medgen_c6012690_omim_301148 MONDO:MONDO:0978291,MedGen:C6012690,OMIM:301148 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH2 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 Glioma susceptibility 1 mondo_mondo_0024498_medgen_c2750850_omim_137800 MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYOU1 Granulocytopenia with immunoglobulin abnormality mondo_mondo_0009305_medgen_c1856263_omim_233600 MONDO:MONDO:0009305,MedGen:C1856263,OMIM:233600 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Polyhydramnios human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Aplasia/Hypoplasia of the cerebellum human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Ankle flexion contracture human_phenotype_ontology_hp_0004985_human_phenotype_ontology_hp_0006403_human_phenotype_ontology_hp_0006466_medgen_c1837407 Human_Phenotype_Ontology:HP:0004985,Human_Phenotype_Ontology:HP:0006403,Human_Phenotype_Ontology:HP:0006466,MedGen:C1837407 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Anencephaly human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYDIN Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 HTRA1-related autosomal dominant cerebral small vessel disease mondo_mondo_0018832_medgen_c5568568_orphanet_482077 MONDO:MONDO:0018832,MedGen:C5568568,Orphanet:482077 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPD1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPD1 Hereditary spastic paraplegia 13 mondo_mondo_0011532_medgen_c1854467_omim_605280_orphanet_100994 MONDO:MONDO:0011532,MedGen:C1854467,OMIM:605280,Orphanet:100994 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 HSPB1-related axonal neuropathies hspb1_related_axonal_neuropathies . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPA9 Even-plus syndrome mondo_mondo_0014801_medgen_c4225180_omim_616854_orphanet_496751 MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSF2BP Premature ovarian failure 19 mondo_mondo_0030985_medgen_c5543229_omim_619245 MONDO:MONDO:0030985,MedGen:C5543229,OMIM:619245 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B3 Disorder of sexual differentiation mondo_mondo_0002145_medgen_c2930619_orphanet_90771 MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD11B1 Cortisone reductase deficiency 2 mondo_mondo_0013842_medgen_c3553382_omim_614662_orphanet_168588 MONDO:MONDO:0013842,MedGen:C3553382,OMIM:614662,Orphanet:168588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSCB Anemia, sideroblastic, 5 mondo_mondo_0030436_medgen_c5561985_omim_619523 MONDO:MONDO:0030436,MedGen:C5561985,OMIM:619523 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HS2ST1 NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS neurofacioskeletal_syndrome_without_renal_agenesis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRG Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency mondo_mondo_0013143_medgen_c2751090_omim_613116_orphanet_217467 MONDO:MONDO:0013143,MedGen:C2751090,OMIM:613116,Orphanet:217467 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Vascular Tumors Including Pyogenic Granuloma vascular_tumors_including_pyogenic_granuloma . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Noonan syndrome 3 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Arteriovenous malformation human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPSE2 Ochoa syndrome mondo_mondo_0000463_medgen_c0403555_omim_ps236730_orphanet_2704 MONDO:MONDO:0000463,MedGen:C0403555,OMIM:PS236730,Orphanet:2704 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPSE2 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 Nephrolithiasis/nephrocalcinosis nephrolithiasis_nephrocalcinosis MedGen:CN580796 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 Lesch-nyhan syndrome, neurologic variant medgen_c1845892 MedGen:C1845892 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPCA Torsion dystonia 2 mondo_mondo_0009141_medgen_c1857093_omim_224500_orphanet_99657 MONDO:MONDO:0009141,MedGen:C1857093,OMIM:224500,Orphanet:99657 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 Brachydactyly-syndactyly syndrome mondo_mondo_0012544_medgen_c1853137_omim_610713_orphanet_93409 MONDO:MONDO:0012544,MedGen:C1853137,OMIM:610713,Orphanet:93409 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 Brachydactyly type E1 mondo_mondo_0007223_medgen_c1862102_omim_113300_orphanet_93387 MONDO:MONDO:0007223,MedGen:C1862102,OMIM:113300,Orphanet:93387 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 Brachydactyly type D human_phenotype_ontology_hp_0005627_mondo_mondo_0007222_medgen_c0220664_omim_113200 Human_Phenotype_Ontology:HP:0005627,MONDO:MONDO:0007222,MedGen:C0220664,OMIM:113200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXC13 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXC13 Ectodermal dysplasia 9, hair/nail type mondo_mondo_0013976_medgen_c3554127_omim_614931_orphanet_69084 MONDO:MONDO:0013976,MedGen:C3554127,OMIM:614931,Orphanet:69084 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA2 HOXA2-related disorder hoxa2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA2 Bilateral microtia-deafness-cleft palate syndrome mondo_mondo_0012854_medgen_c2676772_omim_612290_orphanet_140963 MONDO:MONDO:0012854,MedGen:C2676772,OMIM:612290,Orphanet:140963 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPUL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU heterogeneous nuclear ribonucleoprotein G, human heterogeneous_nuclear_ribonucleoprotein_g_human . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU HNRNPU-related disorder hnrnpu_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPDL condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPDL Autosomal dominant limb-girdle muscular dystrophy type 1G mondo_mondo_0012193_medgen_c1836765_omim_609115_orphanet_55596 MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPD Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPC condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPC Intellectual developmental disorder, autosomal dominant 74 mondo_mondo_0958203_medgen_c5882749_omim_620688 MONDO:MONDO:0958203,MedGen:C5882749,OMIM:620688 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA2B1 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 mondo_mondo_0014178_medgen_c3809468_omim_615422 MONDO:MONDO:0014178,MedGen:C3809468,OMIM:615422 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA1 Relapsing remitting multiple sclerosis mondo_mondo_0005314_medgen_c0751967 MONDO:MONDO:0005314,MedGen:C0751967 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA1 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 mondo_mondo_0014179_medgen_c3809469_omim_615424 MONDO:MONDO:0014179,MedGen:C3809469,OMIM:615424 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNMT Intellectual disability, autosomal recessive 51 mondo_mondo_0014759_medgen_c4225220_omim_616739_orphanet_88616 MONDO:MONDO:0014759,MedGen:C4225220,OMIM:616739,Orphanet:88616 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Hyperinsulinism due to HNF4A deficiency mondo_mondo_0016988_medgen_c4274078_orphanet_263455 MONDO:MONDO:0016988,MedGen:C4274078,Orphanet:263455 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Hyperinsulinemia human_phenotype_ontology_hp_0000842_mondo_mondo_0002177_medgen_c0020459 Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMX1 Oculoauricular syndrome mondo_mondo_0012802_medgen_c2677500_omim_612109_orphanet_157962 MONDO:MONDO:0012802,MedGen:C2677500,OMIM:612109,Orphanet:157962 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCL HMGCL-related disorder hmgcl_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGB1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGB1 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia mondo_mondo_0012374_medgen_c1864965_omim_609945 MONDO:MONDO:0012374,MedGen:C1864965,OMIM:609945 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGA2 Silver-Russell syndrome 1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Abdominal pain human_phenotype_ontology_hp_0002027_medgen_c0000737 Human_Phenotype_Ontology:HP:0002027,MedGen:C0000737 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HLCS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HKDC1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 HK1-related disorder hk1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HJV Hemochromatosis type 1 mondo_mondo_0021001_medgen_c3469186_omim_235200_orphanet_465508 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIVEP2 HIVEP2-related disorder hivep2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIVEP2 Angelman syndrome-like angelman_syndrome_like MedGen:CN128785 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HINT1 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HINT1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIKESHI condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIF1A Maffucci syndrome mondo_mondo_0013808_medgen_c0024454_omim_614569_orphanet_163634 MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFM1 Spermatogenic failure 4 mondo_mondo_0010052_medgen_c0232981_omim_270960 MONDO:MONDO:0010052,MedGen:C0232981,OMIM:270960 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFM1 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE Variegate porphyria mondo_mondo_0008297_medgen_c0162532_omim_176200_orphanet_79473 MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 medgen_c3280096_omim_614193 MedGen:C3280096,OMIM:614193 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE Microvascular complications of diabetes, susceptibility to, 7 mondo_mondo_0012971_medgen_c2673520_omim_612635 MONDO:MONDO:0012971,MedGen:C2673520,OMIM:612635 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE Familial porphyria cutanea tarda mondo_mondo_0008296_medgen_c0268323_omim_176100_orphanet_101330_orphanet_443062 MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXB Sandhoff disease, juvenile form mondo_mondo_0017722_medgen_c0751491_orphanet_309162 MONDO:MONDO:0017722,MedGen:C0751491,Orphanet:309162 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA GM2-GANGLIOSIDOSIS, JUVENILE medgen_c0268276 MedGen:C0268276 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HESX1 Pituitary hormone deficiency, combined, 1 mondo_mondo_0024464_medgen_c2751608_omim_613038 MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Prader-Willi syndrome mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC1 Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability megalencephaly_with_thick_corpus_callosum_cerebellar_atrophy_and_intellectual_disability MedGen:CN228136 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC1 HERC1-related disorder herc1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEPHL1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HENMT1 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECW2 HECW2-related disorder hecw2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEATR5B HEATR5B-associated Pontocerebellar hypoplasia heatr5b_associated_pontocerebellar_hypoplasia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEATR5B Congenital pontocerebellar hypoplasia mesh_c580383_medgen_c0266468 MeSH:C580383,MedGen:C0266468 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEATR3 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 Chromosome 2q37 deletion syndrome mondo_mondo_0010886_medgen_c2931817_omim_600430_orphanet_1001 MONDO:MONDO:0010886,MedGen:C2931817,OMIM:600430,Orphanet:1001 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 HCN1-related disorder hcn1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCFC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCFC1 Disorders of Intracellular Cobalamin Metabolism disorders_of_intracellular_cobalamin_metabolism MedGen:CN043592 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCCS condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBQ1 alpha Thalassemia mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD Delta-0-thalassemia medgen_c0271991 MedGen:C0271991 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Sickle cell-hemoglobin C disease mondo_mondo_0016669_mesh_d006450_medgen_c0019034_orphanet_251365 MONDO:MONDO:0016669,MeSH:D006450,MedGen:C0019034,Orphanet:251365 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hemolytic anemia human_phenotype_ontology_hp_0001878_human_phenotype_ontology_hp_0001910_human_phenotype_ontology_hp_0004827_human_phenotype_ontology_hp_0004853_human_phenotype_ontology_hp_0004868_human_phenotype_ontology_hp_0005503_mondo_mondo_0003664_medgen_c0002878 Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hemoglobin E/beta- thalassemia hemoglobin_e_beta_thalassemia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HBA2-related disorder hba2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Alpha-thalassemia, Dutch type medgen_c1456873 MedGen:C1456873 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS2 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS2 Perrault syndrome mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Tremor human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Oculomotor apraxia human_phenotype_ontology_hp_0000628_human_phenotype_ontology_hp_0000657_human_phenotype_ontology_hp_0007764_medgen_c3489733 Human_Phenotype_Ontology:HP:0000628,Human_Phenotype_Ontology:HP:0000657,Human_Phenotype_Ontology:HP:0007764,MedGen:C3489733 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Dysmetria human_phenotype_ontology_hp_0001310_medgen_c0234162 Human_Phenotype_Ontology:HP:0001310,MedGen:C0234162 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Choreoathetosis human_phenotype_ontology_hp_0001266_human_phenotype_ontology_hp_0002469_human_phenotype_ontology_hp_0006811_human_phenotype_ontology_hp_0007028_human_phenotype_ontology_hp_0007337_medgen_c0085583 Human_Phenotype_Ontology:HP:0001266,Human_Phenotype_Ontology:HP:0002469,Human_Phenotype_Ontology:HP:0006811,Human_Phenotype_Ontology:HP:0007028,Human_Phenotype_Ontology:HP:0007337,MedGen:C0085583 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAMP Hereditary hemochromatosis mondo_mondo_0006507_medgen_c0392514_omim_ps235200 MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADH condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADH Hyperinsulinemic hypoglycemia human_phenotype_ontology_hp_0000825_mondo_mondo_0005803_medgen_c1864903_omim_ps256450_orphanet_443095 Human_Phenotype_Ontology:HP:0000825,MONDO:MONDO:0005803,MedGen:C1864903,OMIM:PS256450,Orphanet:443095 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAAO condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H6PD condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C9 Tessadori-Van Haaften neurodevelopmental syndrome 4 mondo_mondo_0031000_medgen_c5677016_omim_619951 MONDO:MONDO:0031000,MedGen:C5677016,OMIM:619951 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C11 Tessadori-van Haaften neurodevelopmental syndrome 2 mondo_mondo_0030730_medgen_c5676923_omim_619759 MONDO:MONDO:0030730,MedGen:C5676923,OMIM:619759 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A H3F3A-related disorder h3f3a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A H3-3A-related disorder h3_3a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H2BC12 Tessadori-Van Haaften neurodevelopmental syndrome 4 mondo_mondo_0031000_medgen_c5677016_omim_619951 MONDO:MONDO:0031000,MedGen:C5677016,OMIM:619951 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYS2 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYS1 GYS1-related disorder gys1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUSB Mucopolysaccharidosis type 6 mondo_mondo_0009661_medgen_c0026709_omim_253200_orphanet_583 MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200,Orphanet:583 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Early-onset retinal dystrophy early_onset_retinal_dystrophy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Autosomal recessive optic atrophy medgen_c5680331_orphanet_98676 MedGen:C5680331,Orphanet:98676 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY1A1 Moyamoya disease 1 mondo_mondo_0009649_medgen_c2931384_omim_252350_orphanet_2573 MONDO:MONDO:0009649,MedGen:C2931384,OMIM:252350,Orphanet:2573 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A Cone-rod dystrophy 14 mondo_mondo_0800326_medgen_cn322944 MONDO:MONDO:0800326,MedGen:CN322944 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTSF1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTPBP3 GTPBP3-related disorder gtpbp3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF2E2 Trichothiodystrophy 6, nonphotosensitive mondo_mondo_0014841_medgen_c4310785_omim_616943_orphanet_33364 MONDO:MONDO:0014841,MedGen:C4310785,OMIM:616943,Orphanet:33364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSK3B condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR1 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRWD1 Diarrhea 14, congenital mondo_mondo_0976266_medgen_c6012711_omim_621160 MONDO:MONDO:0976266,MedGen:C6012711,OMIM:621160 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRWD1 Congenital diarrhea mondo_mondo_0000824_medgen_c6013449_omim_ps214700 MONDO:MONDO:0000824,MedGen:C6013449,OMIM:PS214700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Adult onset neurodegenerative disorder adult_onset_neurodegenerative_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 CNS hypomyelination human_phenotype_ontology_hp_0003429_medgen_c4025616 Human_Phenotype_Ontology:HP:0003429,MedGen:C4025616 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM6 GRM6-related disorder grm6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIP1 Fraser syndrome 1 mondo_mondo_0054737_medgen_c4551480_omim_219000_orphanet_2052 MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Self-injurious behavior human_phenotype_ontology_hp_0100716_medgen_c0085271 Human_Phenotype_Ontology:HP:0100716,MedGen:C0085271 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Ataxia human_phenotype_ontology_hp_0001251_human_phenotype_ontology_hp_0001253_human_phenotype_ontology_hp_0002513_human_phenotype_ontology_hp_0007050_human_phenotype_ontology_hp_0007157_medgen_c0004134 Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MedGen:C0004134 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Hyperintensity of cerebral white matter on MRI human_phenotype_ontology_hp_0030890_medgen_c2938912 Human_Phenotype_Ontology:HP:0030890,MedGen:C2938912 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRID2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA4 condition not provided condition_not_provided . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 GRIA3-related disorder gria3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA1 Intellectual developmental disorder, autosomal recessive 76 mondo_mondo_0030968_medgen_c5677007_omim_619931 MONDO:MONDO:0030968,MedGen:C5677007,OMIM:619931 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHPR Nephrolithiasis human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHPR Nephrocalcinosis human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHPR GRHPR-related disorder grhpr_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL2 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome mondo_mondo_0014460_medgen_c4014987_omim_616029_orphanet_423454 MONDO:MONDO:0014460,MedGen:C4014987,OMIM:616029,Orphanet:423454 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL2 Corneal dystrophy, posterior polymorphous, 4 mondo_mondo_0054832_medgen_c4747961_omim_618031 MONDO:MONDO:0054832,MedGen:C4747961,OMIM:618031 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Mayer-Rokitansky-Küster-Hauser syndrome type 2 mondo_mondo_0010989_medgen_c4305568_omim_601076_orphanet_2578_orphanet_3109 MONDO:MONDO:0010989,MedGen:C4305568,OMIM:601076,Orphanet:2578,Orphanet:3109 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Mayer-Rokitansky-Kuster-Hauser syndrome mondo_mondo_0017771_medgen_c0431648_orphanet_247775_orphanet_3109 MONDO:MONDO:0017771,MedGen:C0431648,Orphanet:247775,Orphanet:3109 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Inner ear malformation medgen_c4231418 MedGen:C4231418 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPRC5B Megalencephalic leukoencephalopathy with subcortical cysts 3 mondo_mondo_0957533_medgen_c5830625_omim_620447 MONDO:MONDO:0957533,MedGen:C5830625,OMIM:620447 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPRASP2 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome mondo_mondo_0044702_medgen_c4746975_omim_301018_orphanet_500188 MONDO:MONDO:0044702,MedGen:C4746975,OMIM:301018,Orphanet:500188 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR179 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR179 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR179 Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR161 Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR156 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Ocular albinism human_phenotype_ontology_hp_0001107_human_phenotype_ontology_hp_0007745_human_phenotype_ontology_hp_0007837_mondo_mondo_0017304_mesh_d016117_medgen_c0078917_orphanet_284804 Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Albinism human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPNMB condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPNMB GPNMB-related disorder gpnmb_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Retinitis pigmentosa 53 mondo_mondo_0800348_medgen_c3150208 MONDO:MONDO:0800348,MedGen:C3150208 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Glycosylphosphatidylinositol biosynthesis defect 17 mondo_mondo_0060724_medgen_c4747891_omim_618010 MONDO:MONDO:0060724,MedGen:C4747891,OMIM:618010 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC6 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC6 Autosomal recessive omodysplasia mondo_mondo_0009779_medgen_c1850318_omim_258315_orphanet_2733_orphanet_93329 MONDO:MONDO:0009779,MedGen:C1850318,OMIM:258315,Orphanet:2733,Orphanet:93329 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC3 GPC3-related disorder gpc3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE macrothrombocytopenia_familial_bernard_soulier_type MedGen:CN071127 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA GP1BA-related disorder gp1ba_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOSR2 Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOSR2 GOSR2-related disorder gosr2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GON7 Galloway-Mowat syndrome 9 mondo_mondo_0030471_medgen_c5562016_omim_619603 MONDO:MONDO:0030471,MedGen:C5562016,OMIM:619603 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GON4L Li-Takada-Miyake syndrome mondo_mondo_0978303_medgen_c6012727_omim_621212 MONDO:MONDO:0978303,MedGen:C6012727,OMIM:621212 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Pituitary hormone deficiency pituitary_hormone_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Isolated congenital hypogonadotropic hypogonadism mondo_mondo_0016553_medgen_c5679849_orphanet_238666 MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR GNRHR-related disorder gnrhr_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Amenorrhea human_phenotype_ontology_hp_0000141_mondo_mondo_0001836_medgen_c0002453 Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRH1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia mondo_mondo_0013914_medgen_c1856897_omim_614841_orphanet_432 MONDO:MONDO:0013914,MedGen:C1856897,OMIM:614841,Orphanet:432 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTG Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTG Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTG Mucolipidosis mondo_mondo_0019248_medgen_c0026697_orphanet_79212 MONDO:MONDO:0019248,MedGen:C0026697,Orphanet:79212 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPAT Rhizomelic chondrodysplasia punctata mondo_mondo_0015776_medgen_c0282529_omim_ps215100_orphanet_177 MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100,Orphanet:177 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNMT Glycine N-methyltransferase deficiency mondo_mondo_0011698_medgen_c1847720_omim_606664_orphanet_289891 MONDO:MONDO:0011698,MedGen:C1847720,OMIM:606664,Orphanet:289891 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNE Myopathy, autophagic vacuolar, infantile-onset mondo_mondo_0012286_medgen_c2931230_omim_609500 MONDO:MONDO:0012286,MedGen:C2931230,OMIM:609500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNE GNE-related disorder gne_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB3 Congenital stationary night blindness 1H mondo_mondo_0014872_medgen_c4310758_omim_617024 MONDO:MONDO:0014872,MedGen:C4310758,OMIM:617024 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Inability to walk human_phenotype_ontology_hp_0002540_medgen_c0560046 Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Cerebral visual impairment human_phenotype_ontology_hp_0000595_human_phenotype_ontology_hp_0100704_medgen_c4048268_orphanet_447788 Human_Phenotype_Ontology:HP:0000595,Human_Phenotype_Ontology:HP:0100704,MedGen:C4048268,Orphanet:447788 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Bilateral tonic-clonic seizure human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT1 Congenital stationary night blindness 1C mondo_mondo_0013183_medgen_c2750747_omim_613216_orphanet_215 MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Sex cord-stromal tumor mondo_mondo_0006055_medgen_c0206724 MONDO:MONDO:0006055,MedGen:C0206724 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Cushing syndrome mondo_mondo_0018912_medgen_c0010481_orphanet_189427 MONDO:MONDO:0018912,MedGen:C0010481,Orphanet:189427 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ Segmental undergrowth associated with capillary malformation segmental_undergrowth_associated_with_capillary_malformation . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Movement disorder human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 GNAO1-related developmental delay-seizures-movement disorder spectrum mondo_mondo_0035660_medgen_c5680303_orphanet_592564 MONDO:MONDO:0035660,MedGen:C5680303,Orphanet:592564 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Dyskinesia human_phenotype_ontology_hp_0100660_medgen_c0013384 Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Chorea human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Muscular dystrophy-dystroglycanopathy mondo_mondo_0018276_medgen_c5679911_orphanet_370953 MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPA GMPPA-related disorder gmppa_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLYCTK condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUL condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Postaxial polydactyly type B mondo_mondo_0019674_medgen_c1868120_orphanet_93335 MONDO:MONDO:0019674,MedGen:C1868120,Orphanet:93335 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI1 GLI1-related disorder gli1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLE1 GLE1-related disorder gle1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Multiple joint contractures human_phenotype_ontology_hp_0002828_medgen_c0158118 Human_Phenotype_Ontology:HP:0002828,MedGen:C0158118 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN GLDN-related disorder gldn_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Autosomal recessive nonsyndromic hearing loss 104 mondo_mondo_0014675_medgen_c4225298_omim_616515_orphanet_90636 MONDO:MONDO:0014675,MedGen:C4225298,OMIM:616515,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA5 Atrial standstill 1 mondo_mondo_0007171_medgen_c4551959_omim_108770_orphanet_1344 MONDO:MONDO:0007171,MedGen:C4551959,OMIM:108770,Orphanet:1344 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Syndactyly type 3 mondo_mondo_0008514_medgen_c1861366_omim_186100_orphanet_93404 MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100,Orphanet:93404 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Erythrokeratodermia variabilis et progressiva 3 mondo_mondo_0033013_medgen_c4479619_omim_617525 MONDO:MONDO:0033013,MedGen:C4479619,OMIM:617525 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Autosomal dominant palmoplantar keratoderma and congenital alopecia mondo_mondo_0007083_medgen_c4304669_omim_104100_orphanet_1010 MONDO:MONDO:0007083,MedGen:C4304669,OMIM:104100,Orphanet:1010 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GINS3 MEIER-GORLIN SYNDROME 9 meier_gorlin_syndrome_9 MedGen:CN380877,OMIM:621512 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GINS1 Combined immunodeficiency due to GINS1 deficiency mondo_mondo_0044725_medgen_c5568132_omim_617827_orphanet_505227 MONDO:MONDO:0044725,MedGen:C5568132,OMIM:617827,Orphanet:505227 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHRHR Pituitary hormone deficiency pituitary_hormone_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHR Laron syndrome with elevated serum GH-binding protein medgen_c4016705 MedGen:C4016705 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GH1 Idiopathic growth hormone deficiency medgen_c0342381 MedGen:C0342381 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGN Spermatogenic failure 69 mondo_mondo_0030732_medgen_c5676960_omim_619826 MONDO:MONDO:0030732,MedGen:C5676960,OMIM:619826 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGCX GGCX - Related Disorders ggcx_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGA3 Nephrotic syndrome, type 17 mondo_mondo_0032580_medgen_c4748545_omim_618176 MONDO:MONDO:0032580,MedGen:C4748545,OMIM:618176 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFPT1 Congenital myasthenic syndrome 4C mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM1 Combined oxidative phosphorylation deficiency mondo_mondo_0000732_medgen_c4540031_omim_ps609060 MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFI1B condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFER Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDI1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDI1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Osteoarthritis susceptibility 5 mondo_mondo_0012893_medgen_c4759728_omim_612400 MONDO:MONDO:0012893,MedGen:C4759728,OMIM:612400 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 GDF5-related disorder gdf5_related_disorder MedGen:CN169990 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF5 Acromesomelic dysplasia 2C, Hunter-Thompson type mondo_mondo_0008717_medgen_c2930970_omim_201250_orphanet_968 MONDO:MONDO:0008717,MedGen:C2930970,OMIM:201250,Orphanet:968 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Progressive myoclonic epilepsy type 8 mondo_mondo_0014545_medgen_c5190825_omim_616230_orphanet_424027 MONDO:MONDO:0014545,MedGen:C5190825,OMIM:616230,Orphanet:424027 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Neuropathy, axonal, with vocal cord paresis, autosomal recessive medgen_c4016973 MedGen:C4016973 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCSH GCSH-related disorder gcsh_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCNT2 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCNT2 ADULT i BLOOD GROUP PHENOTYPE medgen_c1292164 MedGen:C1292164 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCNA Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCLC Gamma-glutamylcysteine synthetase deficiency mondo_mondo_0009259_medgen_c1856603_omim_230450_orphanet_33574 MONDO:MONDO:0009259,MedGen:C1856603,OMIM:230450,Orphanet:33574 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Maturity-onset diabetes of the young type 3 mondo_mondo_0010894_medgen_c1838100_omim_600496_orphanet_552 MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive mondo_mondo_0100098_medgen_cn322657 MONDO:MONDO:0100098,MedGen:CN322657 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH Glutaric acidaemia I newborn screening follow up glutaric_acidaemia_i_newborn_screening_follow_up . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 PITX3-related disorder pitx3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 Cataract 11, posterior polar medgen_c3807150 MedGen:C3807150 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 Anterior segment dysgenesis 1 mondo_mondo_0007138_medgen_c4551992_omim_107250 MONDO:MONDO:0007138,MedGen:C4551992,OMIM:107250 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form mondo_mondo_0017697_medgen_c1856303_orphanet_308655 MONDO:MONDO:0017697,MedGen:C1856303,Orphanet:308655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form mondo_mondo_0017700_medgen_c1856305_orphanet_308698 MONDO:MONDO:0017700,MedGen:C1856305,Orphanet:308698 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Glycogen storage disease IV, nonprogressive hepatic medgen_c4017114 MedGen:C4017114 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Glycogen storage disease IV, combined hepatic and myopathic medgen_c4017116 MedGen:C4017116 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA2 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATB Cardiomyopathy, mitochondrial medgen_c3532239 MedGen:C3532239 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD2B GATAD2B-related disorder gatad2b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Persistent truncus arteriosus human_phenotype_ontology_hp_0001660_mondo_mondo_0018072_medgen_c0041207_orphanet_3384 Human_Phenotype_Ontology:HP:0001660,MONDO:MONDO:0018072,MedGen:C0041207,Orphanet:3384 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 GATA6-related disorder gata6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Atrial septal defect 9 mondo_mondo_0013770_medgen_c3280943_omim_614475_orphanet_1478 MONDO:MONDO:0013770,MedGen:C3280943,OMIM:614475,Orphanet:1478 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Thrombocytopenia, X-linked, without dyserythropoietic anemia medgen_c4016508 MedGen:C4016508 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Thrombocytopenia, X-linked, with dyserythropoietic anemia medgen_c4016507 MedGen:C4016507 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Down syndrome mondo_mondo_0008608_medgen_c0013080_omim_190685_orphanet_870 MONDO:MONDO:0008608,MedGen:C0013080,OMIM:190685,Orphanet:870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAS2 Hearing loss, autosomal recessive 125 mondo_mondo_0971152_medgen_c5935633_omim_620877 MONDO:MONDO:0971152,MedGen:C5935633,OMIM:620877 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARIN5A Neurodevelopmental disorder with dysmorphic facies and variable seizures mondo_mondo_0031011_medgen_c5543268_omim_619264 MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAREM2 HADHA-related disorder hadha_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GANAB Biliary tract abnormality human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNT2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNS Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 Junctional epidermolysis bullosa, non-Herlitz type mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 ITGB4-related disorder itgb4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 GALK1-related disorder galk1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 Epidermolysis bullosa simplex 1C, localized mondo_mondo_0007551_medgen_c0080333_omim_131800_orphanet_79400 MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Status epilepticus human_phenotype_ontology_hp_0002133_medgen_c0038220 Human_Phenotype_Ontology:HP:0002133,MedGen:C0038220 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Small for gestational age human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Progressive visual loss human_phenotype_ontology_hp_0000529_human_phenotype_ontology_hp_0000560_human_phenotype_ontology_hp_0007735_human_phenotype_ontology_hp_0007753_human_phenotype_ontology_hp_0007967_medgen_c1839364 Human_Phenotype_Ontology:HP:0000529,Human_Phenotype_Ontology:HP:0000560,Human_Phenotype_Ontology:HP:0007735,Human_Phenotype_Ontology:HP:0007753,Human_Phenotype_Ontology:HP:0007967,MedGen:C1839364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Neonatal hypoglycemia human_phenotype_ontology_hp_0001998_medgen_c0158986 Human_Phenotype_Ontology:HP:0001998,MedGen:C0158986 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Loss of ambulation human_phenotype_ontology_hp_0002505_human_phenotype_ontology_hp_0006957_medgen_c1836843 Human_Phenotype_Ontology:HP:0002505,Human_Phenotype_Ontology:HP:0006957,MedGen:C1836843 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Hemiparesis human_phenotype_ontology_hp_0001269_medgen_c0018989 Human_Phenotype_Ontology:HP:0001269,MedGen:C0018989 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC EMG: axonal abnormality human_phenotype_ontology_hp_0003482_medgen_c4025609 Human_Phenotype_Ontology:HP:0003482,MedGen:C4025609 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC EMG abnormality human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Dysmyelinating leukodystrophy human_phenotype_ontology_hp_0006978_medgen_c3278204 Human_Phenotype_Ontology:HP:0006978,MedGen:C3278204 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Breech presentation human_phenotype_ontology_hp_0001623_medgen_c0006157 Human_Phenotype_Ontology:HP:0001623,MedGen:C0006157 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Amblyopia human_phenotype_ontology_hp_0000646_mondo_mondo_0001020_medgen_c0002418 Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 GABRG2-related disorder gabrg2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Autosomal dominant nocturnal frontal lobe epilepsy mondo_mondo_0020300_medgen_c3696898_orphanet_98784 MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Juvenile myoclonic epilepsy mondo_mondo_0009696_medgen_c0270853_omim_ps254770_orphanet_307 MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD deficient hemolytic anemia g6pd_deficient_hemolytic_anemia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD6 Nail disease mondo_mondo_0002884_medgen_c0027339 MONDO:MONDO:0002884,MedGen:C0027339 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 Coats disease mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FYCO1 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FYB1 Thrombocytopenia 3 mondo_mondo_0010120_medgen_c2678311_omim_273900_orphanet_268322 MONDO:MONDO:0010120,MedGen:C2678311,OMIM:273900,Orphanet:268322 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXR1 Myopathy, congenital proximal, with minicore lesions mondo_mondo_0032937_medgen_c5394193_omim_618823 MONDO:MONDO:0032937,MedGen:C5394193,OMIM:618823 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUT1 Bombay phenotype medgen_c1859408_omim_616754 MedGen:C1859408,OMIM:616754 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUS Juvenile amyotrophic lateral sclerosis mondo_mondo_0017593_medgen_c3468114_orphanet_300605 MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUCA1 FUCA1-related disorder fuca1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTO Lethal polymalformative syndrome, Boissel type mondo_mondo_0013050_medgen_c2752001_omim_612938_orphanet_210144 MONDO:MONDO:0013050,MedGen:C2752001,OMIM:612938,Orphanet:210144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTL L-ferritin deficiency mondo_mondo_0014274_medgen_c3810090_omim_615604_orphanet_440731 MONDO:MONDO:0014274,MedGen:C3810090,OMIM:615604,Orphanet:440731 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 BEST1-related dominant retinopathy mondo_mondo_0700238_medgen_cn375913 MONDO:MONDO:0700238,MedGen:CN375913 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 Autosomal dominant vitreoretinochoroidopathy mondo_mondo_0008662_medgen_c3888099_omim_193220_orphanet_263347_orphanet_3086 MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTCD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSIP2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSIP2 FSIP2-related disorder fsip2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHR Dizygotic twins medgen_c0220761_omim_276400 MedGen:C0220761,OMIM:276400 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRRS1L FRRS1L-related disorder frrs1l_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMD5 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP3 Hydrops fetalis human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXN1 T-lymphocyte deficiency mondo_mondo_0009451_medgen_c0152094_omim_242700_orphanet_83471 MONDO:MONDO:0009451,MedGen:C0152094,OMIM:242700,Orphanet:83471 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXJ1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXI3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXI3 Craniofacial microsomia 1 mondo_mondo_0958175_medgen_c3495417_omim_164210_orphanet_374 MONDO:MONDO:0958175,MedGen:C3495417,OMIM:164210,Orphanet:374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC2 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities mondo_mondo_0007180_medgen_c1862373_omim_109120 MONDO:MONDO:0007180,MedGen:C1862373,OMIM:109120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Cardiomyopathy, familial restrictive, 5 mondo_mondo_0800371_medgen_c4310748 MONDO:MONDO:0800371,MedGen:C4310748 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Prune belly syndrome human_phenotype_ontology_hp_0004392_mondo_mondo_0007032_medgen_c0033770_omim_100100_orphanet_2970 Human_Phenotype_Ontology:HP:0004392,MONDO:MONDO:0007032,MedGen:C0033770,OMIM:100100,Orphanet:2970 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Patent ductus arteriosus human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Otopalatodigital syndrome spectrum disorder mondo_mondo_0018233_medgen_c2748918_orphanet_364541 MONDO:MONDO:0018233,MedGen:C2748918,Orphanet:364541 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA FLNA related lung disease flna_related_lung_disease . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Attenuated frontometaphyseal dysplasia attenuated_frontometaphyseal_dysplasia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLI1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG2 Peeling skin syndrome 6 mondo_mondo_0054852_medgen_c4748093_omim_618084 MONDO:MONDO:0054852,MedGen:C4748093,OMIM:618084 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Multiple monogenic benign skin tumours multiple_monogenic_benign_skin_tumours . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Muscular dystrophy-dystroglycanopathy mondo_mondo_0018276_medgen_c5679911_orphanet_370953 MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP FKRP-related disorder fkrp_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHOD3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FH Cutaneous leiomyoma human_phenotype_ontology_hp_0007507_human_phenotype_ontology_hp_0007620_mondo_mondo_0003291_medgen_c0346064 Human_Phenotype_Ontology:HP:0007507,Human_Phenotype_Ontology:HP:0007620,MONDO:MONDO:0003291,MedGen:C0346064 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG Autosomal dominant FGG-related disorders autosomal_dominant_fgg_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Seborrheic keratosis human_phenotype_ontology_hp_0031287_mondo_mondo_0008420_medgen_c0022603_omim_182000 Human_Phenotype_Ontology:HP:0031287,MONDO:MONDO:0008420,MedGen:C0022603,OMIM:182000 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Multiple epiphyseal dysplasia human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Holoprosencephaly sequence human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF8 Semilobar holoprosencephaly human_phenotype_ontology_hp_0002507_mondo_mondo_0700419_medgen_c0751617_orphanet_220386 Human_Phenotype_Ontology:HP:0002507,MONDO:MONDO:0700419,MedGen:C0751617,Orphanet:220386 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF23 Tumoral calcinosis, hyperphosphatemic, familial, 1 mondo_mondo_0100252_medgen_c4692564_omim_211900_orphanet_53715 MONDO:MONDO:0100252,MedGen:C4692564,OMIM:211900,Orphanet:53715 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF20 Renal hypodysplasia/aplasia 2 mondo_mondo_0014319_medgen_c3810359_omim_615721_orphanet_411709 MONDO:MONDO:0014319,MedGen:C3810359,OMIM:615721,Orphanet:411709 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF14 Spinocerebellar ataxia type 27 mondo_mondo_0012247_medgen_c1836383_orphanet_98764 MONDO:MONDO:0012247,MedGen:C1836383,Orphanet:98764 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF14 Spinocerebellar ataxia 27B, late-onset mondo_mondo_0859340_medgen_c5774278_omim_620174_orphanet_675216 MONDO:MONDO:0859340,MedGen:C5774278,OMIM:620174,Orphanet:675216 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF14 FGF14-related disorder fgf14_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF13 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD4 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGB Hypofibrinogenemia human_phenotype_ontology_hp_0011900_medgen_c0553681 Human_Phenotype_Ontology:HP:0011900,MedGen:C0553681 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGB FGB-related disorder fgb_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Dysfibrinogenemia human_phenotype_ontology_hp_0011901_medgen_c1260903 Human_Phenotype_Ontology:HP:0011901,MedGen:C1260903 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FEZF2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FEZF1 Hypogonadotropic hypogonadism 22 with anosmia medgen_c4017302 MedGen:C4017302 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FECH Autosomal erythropoietic protoporphyria mondo_mondo_0019263_medgen_cn283243_orphanet_79278 MONDO:MONDO:0019263,MedGen:CN283243,Orphanet:79278 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDXR FDXR-related disorder fdxr_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCN3 Immunodeficiency due to ficolin3 deficiency mondo_mondo_0013467_medgen_c3151226_omim_613860_orphanet_331190 MONDO:MONDO:0013467,MedGen:C3151226,OMIM:613860,Orphanet:331190 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO43 Spermatogenic failure 64 mondo_mondo_0030522_medgen_c5562062_omim_619696 MONDO:MONDO:0030522,MedGen:C5562062,OMIM:619696 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO38 Neuronopathy, distal hereditary motor, type 2D mondo_mondo_0014259_medgen_c3888271_omim_615575_orphanet_139525 MONDO:MONDO:0014259,MedGen:C3888271,OMIM:615575,Orphanet:139525 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO28 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Polydactyly, postaxial, type A1 mondo_mondo_0008266_medgen_c4282400_omim_174200 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Oligohydramnios human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Narrow chest human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Anencephaly human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 Mitochondrial DNA depletion syndrome mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBRS Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBP1 FBP1-related disorder fbp1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Weill-Marchesani syndrome mondo_mondo_0018096_medgen_c0265313_omim_ps277600_orphanet_3449 MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Striae distensae human_phenotype_ontology_hp_0001023_human_phenotype_ontology_hp_0001065_human_phenotype_ontology_hp_0001066_human_phenotype_ontology_hp_0100680_medgen_c0152459 Human_Phenotype_Ontology:HP:0001023,Human_Phenotype_Ontology:HP:0001065,Human_Phenotype_Ontology:HP:0001066,Human_Phenotype_Ontology:HP:0100680,MedGen:C0152459 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Pes planus human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Pectus carinatum human_phenotype_ontology_hp_0000768_human_phenotype_ontology_hp_0006639_medgen_c0158731 Human_Phenotype_Ontology:HP:0000768,Human_Phenotype_Ontology:HP:0006639,MedGen:C0158731 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Mitral regurgitation human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Marfan syndrome, atypical medgen_c4016055 MedGen:C4016055 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 MARFAN SYNDROME, AUTOSOMAL RECESSIVE medgen_c4016059 MedGen:C4016059 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Lens subluxation human_phenotype_ontology_hp_0001132_mondo_mondo_0001271_medgen_c0023316 Human_Phenotype_Ontology:HP:0001132,MONDO:MONDO:0001271,MedGen:C0023316 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 High myopia human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Arachnodactyly human_phenotype_ontology_hp_0001166_human_phenotype_ontology_hp_0001505_medgen_c0003706 Human_Phenotype_Ontology:HP:0001166,Human_Phenotype_Ontology:HP:0001505,MedGen:C0003706 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBLN5 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM FANCM Fanconi-like genomic instability disorder mondo_mondo_0100578_medgen_cn379138 MONDO:MONDO:0100578,MedGen:CN379138 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCI Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCE FANCE-related disorder fance_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCB FANCB-related disorder fancb_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM50A condition not provided condition_not_provided MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM177A1 Neurodevelopmental disorder with white matter abnormalities and gait disturbance mondo_mondo_0976264_medgen_c6012709_omim_621152 MONDO:MONDO:0976264,MedGen:C6012709,OMIM:621152 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM177A1 FAM177A1-related disorder fam177a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM111A Autosomal dominant Kenny-Caffey syndrome mondo_mondo_0007478_medgen_c4316787_omim_127000_orphanet_2333_orphanet_93325 MONDO:MONDO:0007478,MedGen:C4316787,OMIM:127000,Orphanet:2333,Orphanet:93325 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM110C Streaky metaphyseal sclerosis human_phenotype_ontology_hp_0005092_medgen_c4025253 Human_Phenotype_Ontology:HP:0005092,MedGen:C4025253 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM110C Aplasia/Hypoplasia of the phalanges of the 4th toe human_phenotype_ontology_hp_0010371_medgen_c4023875 Human_Phenotype_Ontology:HP:0010371,MedGen:C4023875 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAHD1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAHD1 Premature ovarian failure 23 mondo_mondo_0958035_medgen_c5882747_omim_620686 MONDO:MONDO:0958035,MedGen:C5882747,OMIM:620686 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAH Tyrosinemia mondo_mondo_0004741_medgen_c0268486_omim_ps276700 MONDO:MONDO:0004741,MedGen:C0268486,OMIM:PS276700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FADD FADD-related immunodeficiency mondo_mondo_0013408_medgen_c3151062_omim_613759_orphanet_306550 MONDO:MONDO:0013408,MedGen:C3151062,OMIM:613759,Orphanet:306550 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FA2H Neurodegeneration with brain iron accumulation mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FA2H Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Hemophilia b(m) hemophilia_b_m MedGen:CN043453 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Abnormality of coagulation human_phenotype_ontology_hp_0001928_medgen_c1846821 Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Mild hemophilia A mondo_mondo_0015721_medgen_c0272324_orphanet_169808 MONDO:MONDO:0015721,MedGen:C0272324,Orphanet:169808 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F7 Abnormality of coagulation human_phenotype_ontology_hp_0001928_medgen_c1846821 Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 F2-related disorder f2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13A1 Thrombophilia due to thrombin defect mondo_mondo_0008559_medgen_c3160733_omim_188050 MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13A1 Myocardial infarction, susceptibility to mondo_mondo_0012039_medgen_c1832662_omim_608446 MONDO:MONDO:0012039,MedGen:C1832662,OMIM:608446 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS EYS-related retinopathy mondo_mondo_0800391_medgen_cn322597 MONDO:MONDO:0800391,MedGen:CN322597 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Branchiooculofacial syndrome mondo_mondo_0007235_mesh_d019280_medgen_c0376524_omim_113620_orphanet_1297 MONDO:MONDO:0007235,MeSH:D019280,MedGen:C0376524,OMIM:113620,Orphanet:1297 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXTL3 Immunoskeletal dysplasia with neurodevelopmental abnormalities mondo_mondo_0044312_medgen_c4479452_omim_617425 MONDO:MONDO:0044312,MedGen:C4479452,OMIM:617425 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC2 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome mondo_mondo_0044634_medgen_c4540367_omim_617763_orphanet_494439 MONDO:MONDO:0044634,MedGen:C4540367,OMIM:617763,Orphanet:494439 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC8 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy mondo_mondo_0033662_medgen_c5436747_omim_619076 MONDO:MONDO:0033662,MedGen:C5436747,OMIM:619076 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVI2A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVI2A Neurofibromatosis, type 1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC2 Type IV short rib polydactyly syndrome mondo_mondo_0010024_medgen_c0432198_omim_269860_orphanet_93268 MONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860,Orphanet:93268 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC2 Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Acute lymphoid leukemia human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV2 Polydactyly human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV2 Hypoplastic left heart syndrome human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV2 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV2 Abnormal vertebral morphology human_phenotype_ontology_hp_0003468_human_phenotype_ontology_hp_0005719_medgen_c1834129 Human_Phenotype_Ontology:HP:0003468,Human_Phenotype_Ontology:HP:0005719,MedGen:C1834129 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFB Glutaric acidemia IIb mondo_mondo_0700074_medgen_c3278155 MONDO:MONDO:0700074,MedGen:C3278155 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFA ETFA-related disorder etfa_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESRP2 Cleft lip with or without cleft palate medgen_c0810364_orphanet_1991 MedGen:C0810364,Orphanet:1991 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESRP1 Hearing loss, autosomal recessive 109 mondo_mondo_0033202_medgen_c4693935_omim_618013 MONDO:MONDO:0033202,MedGen:C4693935,OMIM:618013 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESCO2 ESCO2-related disorder esco2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 Mitochondrial complex I deficiency, nuclear type 10 mondo_mondo_0032616_medgen_c4748768_omim_618233 MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 ERCC8-related disorder ercc8_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6L2 Bone marrow hypocellularity human_phenotype_ontology_hp_0005528_human_phenotype_ontology_hp_0005529_human_phenotype_ontology_hp_0100549_medgen_c1855710 Human_Phenotype_Ontology:HP:0005528,Human_Phenotype_Ontology:HP:0005529,Human_Phenotype_Ontology:HP:0100549,MedGen:C1855710 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Lung carcinoma mondo_mondo_0005138_medgen_c0684249 MONDO:MONDO:0005138,MedGen:C0684249 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 ERCC4-Related Disorders ercc4_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB4 Amyotrophic lateral sclerosis type 19 mondo_mondo_0014223_medgen_c3715155_omim_615515_orphanet_803 MONDO:MONDO:0014223,MedGen:C3715155,OMIM:615515,Orphanet:803 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERAP1 Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome mondo_mondo_0014574_medgen_c4225381_omim_616295_orphanet_444138 MONDO:MONDO:0014574,MedGen:C4225381,OMIM:616295,Orphanet:444138 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPO Erythrocytosis, familial, 5 mondo_mondo_0033483_medgen_c4693552_omim_617907 MONDO:MONDO:0033483,MedGen:C4693552,OMIM:617907 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 Hereditary lymphedema type I mondo_mondo_0007919_medgen_c1704423_omim_153100_orphanet_79452 MONDO:MONDO:0007919,MedGen:C1704423,OMIM:153100,Orphanet:79452 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 EPHB4-associated vascular malformation spectrum mondo_mondo_0700080_medgen_cn315656 MONDO:MONDO:0700080,MedGen:CN315656 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA2 EPHA2-related disorder epha2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPG5 Syndromic retinitis pigmentosa medgen_c5680332_orphanet_98661 MedGen:C5680332,Orphanet:98661 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB41 EPB41-related disorder epb41_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Rubinstein-Taybi syndrome mondo_mondo_0019188_medgen_c0035934_omim_ps180849_orphanet_783 MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Colorectal carcinoma mondo_mondo_0024331_medgen_c0009402 MONDO:MONDO:0024331,MedGen:C0009402 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTREP2 Lung disease, immunodeficiency, and chromosome breakage syndrome mondo_mondo_0014984_medgen_c4310653_omim_617241 MONDO:MONDO:0014984,MedGen:C4310653,OMIM:617241 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTREP2 Lung damage, immunodeficiency and chromosome breakage syndrome lung_damage_immunodeficiency_and_chromosome_breakage_syndrome . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTPD1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 Coronary sclerosis, medial, of infancy medgen_c1859728 MedGen:C1859728 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENOSF1 Dyskeratosis congenita, digenic mondo_mondo_0031057_medgen_c5774217_omim_620040 MONDO:MONDO:0031057,MedGen:C5774217,OMIM:620040 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMX2 Congenital hypogonadotropic hypogonadism mondo_mondo_0015770_medgen_c3899503_orphanet_174590 MONDO:MONDO:0015770,MedGen:C3899503,Orphanet:174590 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EME2 Combined oxidative phosphorylation deficiency 32 mondo_mondo_0054654_medgen_c4540029_omim_617664 MONDO:MONDO:0054654,MedGen:C4540029,OMIM:617664 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 EMC1-related disorder emc1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Foveal hypoplasia 1 mondo_mondo_0007628_medgen_c3805604_omim_136520_orphanet_2253 MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Cognitive impairment human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP2 ELP2-related disorder elp2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP1 Primary dysautonomia mondo_mondo_0021809_medgen_cn376829 MONDO:MONDO:0021809,MedGen:CN376829 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP1 ELP1-related disorder elp1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL5 Spinocerebellar ataxia type 38 mondo_mondo_0014417_medgen_c4518337_omim_615957_orphanet_423296 MONDO:MONDO:0014417,MedGen:C4518337,OMIM:615957,Orphanet:423296 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL4 ELOVL4-related disorder elovl4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELANE Decreased total neutrophil count human_phenotype_ontology_hp_0001875_human_phenotype_ontology_hp_0005515_human_phenotype_ontology_hp_0005533_mondo_mondo_0001475_medgen_c0853697 Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELAC2 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF4A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B4 Leukoencephalopathy with vanishing white matter 1 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK2 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome mondo_mondo_0030035_medgen_c5394367_omim_618877 MONDO:MONDO:0030035,MedGen:C5394367,OMIM:618877 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK2 Dystonia 33 mondo_mondo_0030513_medgen_c5562054_omim_619687 MONDO:MONDO:0030513,MedGen:C5562054,OMIM:619687 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK1 Leukodystrophy, hypomyelinating, 17 mondo_mondo_0054817_medgen_c4693912_omim_618006 MONDO:MONDO:0054817,MedGen:C4693912,OMIM:618006 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Kleefstra syndrome mondo_mondo_0012455_medgen_c4551771_omim_ps610253_orphanet_261494 MONDO:MONDO:0012455,MedGen:C4551771,OMIM:PS610253,Orphanet:261494 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 EHMT1-related disorder ehmt1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGR2 Dejerine-sottas neuropathy, autosomal dominant medgen_c4016028 MedGen:C4016028 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGLN1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic medgen_c4016032 MedGen:C4016032 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Inflammatory skin and bowel disease, neonatal, 2 mondo_mondo_0014481_medgen_c4015130_omim_616069_orphanet_294023 MONDO:MONDO:0014481,MedGen:C4015130,OMIM:616069,Orphanet:294023 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 EFTUD2-related disorder eftud2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFNB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Tall stature human_phenotype_ontology_hp_0000098_human_phenotype_ontology_hp_0001527_human_phenotype_ontology_hp_0003515_human_phenotype_ontology_hp_0003516_medgen_c0241240 Human_Phenotype_Ontology:HP:0000098,Human_Phenotype_Ontology:HP:0001527,Human_Phenotype_Ontology:HP:0003515,Human_Phenotype_Ontology:HP:0003516,MedGen:C0241240 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Pulmonary bulla human_phenotype_ontology_hp_0032446_medgen_c0241982 Human_Phenotype_Ontology:HP:0032446,MedGen:C0241982 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Posterolateral diaphragmatic hernia human_phenotype_ontology_hp_0025193_medgen_c0265700 Human_Phenotype_Ontology:HP:0025193,MedGen:C0265700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Inguinal hernia human_phenotype_ontology_hp_0000023_medgen_c0019294 Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 High myopia human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Glaucoma 1, open angle, H medgen_c1969811_omim_611276 MedGen:C1969811,OMIM:611276 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Ectropion of lower eyelids human_phenotype_ontology_hp_0007651_medgen_c0521736 Human_Phenotype_Ontology:HP:0007651,MedGen:C0521736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Dural ectasia human_phenotype_ontology_hp_0100775_medgen_c1851712 Human_Phenotype_Ontology:HP:0100775,MedGen:C1851712 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Dolichocephaly human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Diverticulum of bladder human_phenotype_ontology_hp_0000015_mondo_mondo_0007197_medgen_c0156273_omim_109820 Human_Phenotype_Ontology:HP:0000015,MONDO:MONDO:0007197,MedGen:C0156273,OMIM:109820 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Arachnodactyly human_phenotype_ontology_hp_0001166_human_phenotype_ontology_hp_0001505_medgen_c0003706 Human_Phenotype_Ontology:HP:0001166,Human_Phenotype_Ontology:HP:0001505,MedGen:C0003706 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Accelerated skeletal maturation human_phenotype_ontology_hp_0002649_human_phenotype_ontology_hp_0005616_human_phenotype_ontology_hp_0005854_medgen_c0545053 Human_Phenotype_Ontology:HP:0002649,Human_Phenotype_Ontology:HP:0005616,Human_Phenotype_Ontology:HP:0005854,MedGen:C0545053 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF2 Spinocerebellar ataxia type 26 mondo_mondo_0012246_medgen_c1836395_omim_609306_orphanet_101112 MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306,Orphanet:101112 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF2 EEF2-related neurodevelopmental disorder with multiple anomalies eef2_related_neurodevelopmental_disorder_with_multiple_anomalies . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1D EEF1D-related intellectual disabilities eef1d_related_intellectual_disabilities . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1B2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1A2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EED condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRA Mandibulofacial dysostosis with alopecia mondo_mondo_0014608_medgen_c4225349_omim_616367_orphanet_443995 MONDO:MONDO:0014608,MedGen:C4225349,OMIM:616367,Orphanet:443995 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDN1 Question mark ears, isolated mondo_mondo_0013013_medgen_c2748545_omim_612798_orphanet_137888 MONDO:MONDO:0013013,MedGen:C2748545,OMIM:612798,Orphanet:137888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDN1 Auriculocondylar syndrome 3 mondo_mondo_0014312_medgen_c3810332_omim_615706_orphanet_137888 MONDO:MONDO:0014312,MedGen:C3810332,OMIM:615706,Orphanet:137888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDEM3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDC3 Intellectual disability, autosomal recessive 50 mondo_mondo_0014649_medgen_c4225319_omim_616460_orphanet_88616 MONDO:MONDO:0014649,MedGen:C4225319,OMIM:616460,Orphanet:88616 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDARADD condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDARADD Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant mondo_mondo_0007509_medgen_c3888065_omim_129490_orphanet_1810_orphanet_238468 MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Progressive sclerosing poliodystrophy mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Non-syndromic oligodontia non_syndromic_oligodontia . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Mitochondrial DNA depletion syndrome 4b mondo_mondo_0013350_medgen_c3150914_omim_613662_orphanet_298 MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA Hypodontia human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction mondo_mondo_0013473_medgen_c3151237_omim_613870 MONDO:MONDO:0013473,MedGen:C3151237,OMIM:613870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECE1 Aganglionic megacolon human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Expressive language delay human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Ataxia human_phenotype_ontology_hp_0001251_human_phenotype_ontology_hp_0001253_human_phenotype_ontology_hp_0002513_human_phenotype_ontology_hp_0007050_human_phenotype_ontology_hp_0007157_medgen_c0004134 Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MedGen:C0004134 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DZIP1 Spermatogenic failure 47 mondo_mondo_0030844_medgen_c5436818_omim_619102 MONDO:MONDO:0030844,MedGen:C5436818,OMIM:619102 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Distal lower limb muscle weakness human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1B Abdominal obesity-metabolic syndrome 3 mondo_mondo_0014352_medgen_c4014361_omim_615812 MONDO:MONDO:0014352,MedGen:C4014361,OMIM:615812 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2LI1 Sitosterolemia 1 mondo_mondo_0020747_medgen_c2749759_omim_210250 MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2LI1 ABCG5-related disorder abcg5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I2 Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I1 Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Narrow chest human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Bowing of the long bones human_phenotype_ontology_hp_0002976_human_phenotype_ontology_hp_0005087_human_phenotype_ontology_hp_0005908_human_phenotype_ontology_hp_0006404_human_phenotype_ontology_hp_0006451_human_phenotype_ontology_hp_0006452_human_phenotype_ontology_hp_0006487_medgen_c1855340 Human_Phenotype_Ontology:HP:0002976,Human_Phenotype_Ontology:HP:0005087,Human_Phenotype_Ontology:HP:0005908,Human_Phenotype_Ontology:HP:0006404,Human_Phenotype_Ontology:HP:0006451,Human_Phenotype_Ontology:HP:0006452,Human_Phenotype_Ontology:HP:0006487,MedGen:C1855340 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1I2 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies mondo_mondo_0060490_medgen_c4479566_omim_617481_orphanet_544469 MONDO:MONDO:0060490,MedGen:C4479566,OMIM:617481,Orphanet:544469 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL1 Autosomal dominant Robinow syndrome 1 mondo_mondo_0024455_medgen_c4551475_omim_180700_orphanet_3107_orphanet_97360 MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOXA2 Familial thyroid dyshormonogenesis mondo_mondo_0010132_medgen_c4273748_omim_ps274400_orphanet_95716 MONDO:MONDO:0010132,MedGen:C4273748,OMIM:PS274400,Orphanet:95716 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOXA1 Thyroglobulin synthesis defect mondo_mondo_0010137_medgen_c0342196_omim_274900_orphanet_95716 MONDO:MONDO:0010137,MedGen:C0342196,OMIM:274900,Orphanet:95716 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST LETHAL CONGENITAL CONTRACTURE SYNDROME 12 lethal_congenital_contracture_syndrome_12 MedGen:CN380904,OMIM:621511 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 medgen_c4016014 MedGen:C4016014 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 mondo_mondo_0011571_medgen_c1854146_omim_605594_orphanet_166260 MONDO:MONDO:0011571,MedGen:C1854146,OMIM:605594,Orphanet:166260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Myocarditis human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Familial isolated arrhythmogenic right ventricular dysplasia mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 Hereditary palmoplantar keratoderma mondo_mondo_0019272_medgen_c0406757_orphanet_79357 MONDO:MONDO:0019272,MedGen:C0406757,Orphanet:79357 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 DSG1-related disorder dsg1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSE Sudden infant death-dysgenesis of the testes syndrome mondo_mondo_0012124_medgen_c1837371_omim_608800_orphanet_168593 MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800,Orphanet:168593 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC9 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC1 DRC1-related disorder drc1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYS DPYS-related disorder dpys_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPY19L2 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM3 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 mondo_mondo_0033556_medgen_c5436552_omim_618992 MONDO:MONDO:0033556,MedGen:C5436552,OMIM:618992 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOP1A Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK8 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK7 DOCK7-related disorder dock7_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK3 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK11 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3B Facioscapulohumeral muscular dystrophy 4, digenic mondo_mondo_0030355_medgen_c5561960_omim_619478 MONDO:MONDO:0030355,MedGen:C5561960,OMIM:619478 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Severe X-linked myotubular myopathy mondo_mondo_0010683_medgen_c0410203_omim_310400_orphanet_596 MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400,Orphanet:596 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 DNM2-related disorder dnm2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC30 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC30 Leber hereditary optic neuropathy, autosomal recessive mondo_mondo_0030309_medgen_c5543589_omim_ps619382 MONDO:MONDO:0030309,MedGen:C5543589,OMIM:PS619382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC21 DNAJC21-related disorder dnajc21_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC19 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB2 DNAJB2-related disorder dnajb2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI2 DNAI2-related disorder dnai2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH9 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH9 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Primary ciliary dyskinesia 7 mondo_mondo_0012748_medgen_c2678473_omim_611884_orphanet_244 MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH17 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH17 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH17 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH14 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH12 Spermatogenic failure 100 mondo_mondo_0978302_medgen_c6012726_omim_621209 MONDO:MONDO:0978302,MedGen:C6012726,OMIM:621209 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF2 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF1 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMRT2 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMP1 Hypophosphatemic rickets human_phenotype_ontology_hp_0004912_mondo_mondo_0024300_mesh_d063730_medgen_c1704375 Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMGDH Dimethylglycine dehydrogenase deficiency mondo_mondo_0011610_medgen_c1853892_omim_605850_orphanet_243343 MONDO:MONDO:0011610,MedGen:C1853892,OMIM:605850,Orphanet:243343 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Highly elevated creatine kinase human_phenotype_ontology_hp_0030234_medgen_c4022565 Human_Phenotype_Ontology:HP:0030234,MedGen:C4022565 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD EMG: myopathic abnormalities human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMC1 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMAC2L L-2-hydroxyglutaric aciduria human_phenotype_ontology_hp_0040144_mondo_mondo_0009370_medgen_c1855995_omim_236792_orphanet_79314 Human_Phenotype_Ontology:HP:0040144,MONDO:MONDO:0009370,MedGen:C1855995,OMIM:236792,Orphanet:79314 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX5 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX5 DLX5-related disorder dlx5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL1 DLL1-related disorder dll1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG5 Yuksel-Vogel-Bauer syndrome mondo_mondo_0958205_medgen_c5882751_omim_620703 MONDO:MONDO:0958205,MedGen:C5882751,OMIM:620703 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLD DLD-related disorder dld_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DKK3 Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIP2B Intellectual disability, FRA12A type mondo_mondo_0007634_medgen_c1969893_omim_136630 MONDO:MONDO:0007634,MedGen:C1969893,OMIM:136630 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIP2A Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIO1 Thyroid hormone metabolism, abnormal, 2 mondo_mondo_0030839_medgen_c5676976_omim_619855 MONDO:MONDO:0030839,MedGen:C5676976,OMIM:619855 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Neonatal seizure human_phenotype_ontology_hp_0032807_medgen_c0159020 Human_Phenotype_Ontology:HP:0032807,MedGen:C0159020 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 DIAPH1-related disorder diaph1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX38 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 DHX37-related disorder dhx37_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHTKD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHTKD1 Charcot-Marie-Tooth disease type 2A2 mondo_mondo_0012231_medgen_c4721887_omim_609260_orphanet_99947 MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHRS3 DHRS3 Deficiency dhrs3_deficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHPS Neurodevelopmental disorder with seizures and speech and walking impairment mondo_mondo_0032775_medgen_c5193119_omim_618480 MONDO:MONDO:0032775,MedGen:C5193119,OMIM:618480 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHPS DHPS-related disorder dhps_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHH condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHDDS Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHDDS Congenital disorder of glycosylation, type Ibb mondo_mondo_0800353_medgen_c4693133 MONDO:MONDO:0800353,MedGen:C4693133 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 Small for gestational age human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 Elevated circulating 7-dehydrocholesterol concentration human_phenotype_ontology_hp_0010569_medgen_c1849185 Human_Phenotype_Ontology:HP:0010569,MedGen:C1849185 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 2-3 toe syndactyly human_phenotype_ontology_hp_0001846_human_phenotype_ontology_hp_0001856_human_phenotype_ontology_hp_0003773_human_phenotype_ontology_hp_0004683_human_phenotype_ontology_hp_0004685_human_phenotype_ontology_hp_0004691_human_phenotype_ontology_hp_0004697_human_phenotype_ontology_hp_0004703_human_phenotype_ontology_hp_0008086_human_phenotype_ontology_hp_0008123_medgen_c4551570 Human_Phenotype_Ontology:HP:0001846,Human_Phenotype_Ontology:HP:0001856,Human_Phenotype_Ontology:HP:0003773,Human_Phenotype_Ontology:HP:0004683,Human_Phenotype_Ontology:HP:0004685,Human_Phenotype_Ontology:HP:0004691,Human_Phenotype_Ontology:HP:0004697,Human_Phenotype_Ontology:HP:0004703,Human_Phenotype_Ontology:HP:0008086,Human_Phenotype_Ontology:HP:0008123,MedGen:C4551570 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGUOK Portal hypertension, noncirrhotic mondo_mondo_0024193_medgen_c4310735_omim_ps617068 MONDO:MONDO:0024193,MedGen:C4310735,OMIM:PS617068 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Myofibrillar myopathy human_phenotype_ontology_hp_0003715_mondo_mondo_0018943_medgen_c2678065_omim_ps601419_orphanet_593 Human_Phenotype_Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419,Orphanet:593 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Autosomal dominant nocturnal frontal lobe epilepsy mondo_mondo_0020300_medgen_c3696898_orphanet_98784 MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Autosomal dominant epilepsy autosomal_dominant_epilepsy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND5A DENND5A-related disorder dennd5a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEGS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEGS1 DEGS1-related Hypomyelinating Leukodystrophy degs1_related_hypomyelinating_leukodystrophy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX6 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX53 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X X-linked intellectual disability-hypotonia-movement disorder syndrome mondo_mondo_0018709_medgen_c5681121_orphanet_457260 MONDO:MONDO:0018709,MedGen:C5681121,Orphanet:457260 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDRGK1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDRGK1 Spondyloepimetaphyseal dysplasia, Shohat type mondo_mondo_0011252_medgen_c1865185_omim_602557_orphanet_93352 MONDO:MONDO:0011252,MedGen:C1865185,OMIM:602557,Orphanet:93352 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDOST condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD2 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN1 Hereditary motor neuron disease mondo_mondo_0024257_medgen_c0270763_orphanet_98505 MONDO:MONDO:0024257,MedGen:C0270763,Orphanet:98505 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN1 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C DCLRE1C-related disorder dclre1c_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1B Fanconi anemia complementation group C mondo_mondo_0009213_medgen_c3468041_omim_227645_orphanet_84 MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCHS1 Mitral valve prolapse, myxomatous 2 mondo_mondo_0011915_medgen_c1843003_omim_607829 MONDO:MONDO:0011915,MedGen:C1843003,OMIM:607829 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Gaze palsy, familial horizontal, with progressive scoliosis, 2 mondo_mondo_0054602_medgen_c4479640_omim_617542 MONDO:MONDO:0054602,MedGen:C4479640,OMIM:617542 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF17 Neurodegeneration with brain iron accumulation mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAZL Idiopathic male infertility idiopathic_male_infertility . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Sensorimotor neuropathy human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Impaired vibration sensation in the lower limbs human_phenotype_ontology_hp_0002166_medgen_c1849134 Human_Phenotype_Ontology:HP:0002166,MedGen:C1849134 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Gout human_phenotype_ontology_hp_0001368_human_phenotype_ontology_hp_0001997_mondo_mondo_0005393_medgen_c0018099 Human_Phenotype_Ontology:HP:0001368,Human_Phenotype_Ontology:HP:0001997,MONDO:MONDO:0005393,MedGen:C0018099 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Gait imbalance human_phenotype_ontology_hp_0002141_human_phenotype_ontology_hp_0100683_medgen_c1836150 Human_Phenotype_Ontology:HP:0002141,Human_Phenotype_Ontology:HP:0100683,MedGen:C1836150 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Gait ataxia human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 EMG: axonal abnormality human_phenotype_ontology_hp_0003482_medgen_c4025609 Human_Phenotype_Ontology:HP:0003482,MedGen:C4025609 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Dysmetria human_phenotype_ontology_hp_0001310_medgen_c0234162 Human_Phenotype_Ontology:HP:0001310,MedGen:C0234162 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Cerebral cortical atrophy human_phenotype_ontology_hp_0002120_human_phenotype_ontology_hp_0006823_human_phenotype_ontology_hp_0006835_medgen_c4551583 Human_Phenotype_Ontology:HP:0002120,Human_Phenotype_Ontology:HP:0006823,Human_Phenotype_Ontology:HP:0006835,MedGen:C4551583 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 CNS demyelination human_phenotype_ontology_hp_0007222_human_phenotype_ontology_hp_0007305_medgen_c0338474 Human_Phenotype_Ontology:HP:0007222,Human_Phenotype_Ontology:HP:0007305,MedGen:C0338474 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Abnormal foot morphology human_phenotype_ontology_hp_0001760_human_phenotype_ontology_hp_0010216_human_phenotype_ontology_hp_0010611_medgen_c5399834 Human_Phenotype_Ontology:HP:0001760,Human_Phenotype_Ontology:HP:0010216,Human_Phenotype_Ontology:HP:0010611,MedGen:C5399834 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAP3 Perrault syndrome 7 mondo_mondo_0976232_medgen_c6012699_omim_621101 MONDO:MONDO:0976232,MedGen:C6012699,OMIM:621101 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAP3 Perrault syndrome 1 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAP3 Grange syndrome mondo_mondo_0011243_medgen_c1865267_omim_602531_orphanet_79094 MONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531,Orphanet:79094 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAGLA condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence D2HGDH D-2-hydroxyglutaric aciduria human_phenotype_ontology_hp_0012321_mondo_mondo_0010924_medgen_c1833429_omim_ps600721_orphanet_79315 Human_Phenotype_Ontology:HP:0012321,MONDO:MONDO:0010924,MedGen:C1833429,OMIM:PS600721,Orphanet:79315 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4V2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27B1 Multiple sclerosis, susceptibility to mondo_mondo_0007462_medgen_c1868685_omim_126200_omim_ps126200 MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP26C1 Focal facial dermal dysplasia type IV mondo_mondo_0013997_medgen_c3554246_omim_614974_orphanet_398166_orphanet_398189 MONDO:MONDO:0013997,MedGen:C3554246,OMIM:614974,Orphanet:398166,Orphanet:398189 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP24A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Glaucoma, primary open angle, juvenile-onset medgen_c3278153 MedGen:C3278153 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY medgen_c2936858_omim_201910 MedGen:C2936858,OMIM:201910 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 17,20-lyase deficiency, isolated mondo_mondo_0800378_medgen_c3277849 MONDO:MONDO:0800378,MedGen:C3277849 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD CYLD-related disorder cyld_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYCS Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYC1 Mitochondrial complex III deficiency nuclear type 6 mondo_mondo_0014194_medgen_c3809553_omim_615453 MONDO:MONDO:0014194,MedGen:C3809553,OMIM:615453 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBB CYBB-related disorder cybb_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBA CYBA-related disorder cyba_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB5R3 Hereditary methemoglobinemia mondo_mondo_0018963_medgen_c0272087_orphanet_621 MONDO:MONDO:0018963,MedGen:C0272087,Orphanet:621 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB5R3 CYB5R3-related disorder cyb5r3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB561 Orthostatic hypotension 2 mondo_mondo_0020751_medgen_c4748569_omim_618182 MONDO:MONDO:0020751,MedGen:C4748569,OMIM:618182 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CXCR2 WHIM syndrome 2 mondo_mondo_0030374_medgen_c5543622_omim_619407 MONDO:MONDO:0030374,MedGen:C5543622,OMIM:619407 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CWC27 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CWC27 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUX2 CUX2-related disorder cux2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUX1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUX1 CUX1-related disorder cux1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Neurodevelopmental disorder without autism with seizures neurodevelopmental_disorder_without_autism_with_seizures . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES neurodevelopmental_disorder_without_autism_or_seizures . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSD condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSC CTSC-related disorder mondo_mondo_0800465_medgen_cn375926 MONDO:MONDO:0800465,MedGen:CN375926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTRC condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Renal tubulopathies renal_tubulopathies . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Cystinosis, atypical nephropathic medgen_c2749685 MedGen:C2749685 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNND2 CTNND2-related disorder ctnnd2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Nephroblastoma human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Juvenile nasopharyngeal angiofibroma human_phenotype_ontology_hp_0030429_mondo_mondo_0017340_medgen_c1367536_orphanet_289596 Human_Phenotype_Ontology:HP:0030429,MONDO:MONDO:0017340,MedGen:C1367536,Orphanet:289596 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Exudative vitreoretinopathy 1 mondo_mondo_0007589_medgen_c1851402_omim_133780_orphanet_891_orphanet_90050 MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Desmoid disease, hereditary medgen_c1851124_omim_135290_orphanet_873 MedGen:C1851124,OMIM:135290,Orphanet:873 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 CTNNA1-related disorder ctnna1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 CTLA4-related disorder ctla4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTCF Acute megakaryoblastic leukemia in down syndrome mondo_mondo_0020526_medgen_c5925108_orphanet_99887 MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Dyskinesia human_phenotype_ontology_hp_0100660_medgen_c0013384 Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSPP1 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B CSNK2B-related neurodevelopmental disorder csnk2b_related_neurodevelopmental_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2A1 CSNK2A1-related disorder csnk2a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK1D Advanced sleep phase syndrome 2 mondo_mondo_0014088_medgen_c3808874_omim_615224_orphanet_164736 MONDO:MONDO:0014088,MedGen:C3808874,OMIM:615224,Orphanet:164736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF3R CSF3R-related disorder csf3r_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF2RA CSF2RA-related disorder csf2ra_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF1R Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF1R Alzheimer disease human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSDE1 CSDE1-associated disorder csde1_associated_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGS condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGD Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGC Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB3 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA4 Early-onset non-syndromic cataract human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAB condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAA CRYAA-related disorder cryaa_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Stargardt disease mondo_mondo_0019353_medgen_c0271093_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Leber congenital amaurosis 1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX CRX-related disorder crx_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRIPT Ateleiotic dwarfism mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRELD1 Ventricular septal defect 1 mondo_mondo_0013746_medgen_c3280777_omim_614429 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRELD1 Congenital heart defects, multiple types, 4 mondo_mondo_0014344_medgen_c4014310_omim_615779 MONDO:MONDO:0014344,MedGen:C4014310,OMIM:615779 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Thumb deformity human_phenotype_ontology_hp_0001172_mondo_mondo_0008561_medgen_c0575897_omim_188100 Human_Phenotype_Ontology:HP:0001172,MONDO:MONDO:0008561,MedGen:C0575897,OMIM:188100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREB3L3 Hypertriglyceridemia 2 mondo_mondo_0859149_medgen_c5543398_omim_619324 MONDO:MONDO:0859149,MedGen:C5543398,OMIM:619324 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB2 Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Hereditary macular dystrophy mondo_mondo_0020242_medgen_c0339508 MONDO:MONDO:0020242,MedGen:C0339508 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 CRB1-related maculopathy crb1_related_maculopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRADD Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CR2 Systemic lupus erythematosus, susceptibility to, 9 mondo_mondo_0012584_medgen_c1970455_omim_610927 MONDO:MONDO:0012584,MedGen:C1970455,OMIM:610927 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CR2 CR2-related disorder cr2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT1A CPT1A-related disorder cpt1a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPSF1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPS1 CPS1-related disorder cps1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPOX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPOX CPOX-related hereditary coproporphyria mondo_mondo_0800180_medgen_cn322458 MONDO:MONDO:0800180,MedGen:CN322458 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPOX CPOX-related disorder cpox_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPNE1 Schizophrenia 19 mondo_mondo_0033312_medgen_c4539944_omim_617629 MONDO:MONDO:0033312,MedGen:C4539944,OMIM:617629 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPN1 Anaphylotoxin inactivator deficiency mondo_mondo_0008910_medgen_c0398782_omim_212070 MONDO:MONDO:0008910,MedGen:C0398782,OMIM:212070 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Polydactyly human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Median cleft lip and palate human_phenotype_ontology_hp_0008501_human_phenotype_ontology_hp_0009089_medgen_c2750604 Human_Phenotype_Ontology:HP:0008501,Human_Phenotype_Ontology:HP:0009089,MedGen:C2750604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Encephalocele human_phenotype_ontology_hp_0002084_human_phenotype_ontology_hp_0002736_human_phenotype_ontology_hp_0100664_medgen_c4551722 Human_Phenotype_Ontology:HP:0002084,Human_Phenotype_Ontology:HP:0002736,Human_Phenotype_Ontology:HP:0100664,MedGen:C4551722 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Dysgenesis of the cerebellar vermis human_phenotype_ontology_hp_0002195_medgen_c4025719 Human_Phenotype_Ontology:HP:0002195,MedGen:C4025719 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPE condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Perisylvian polymicrogyria human_phenotype_ontology_hp_0012650_medgen_c3279675 Human_Phenotype_Ontology:HP:0012650,MedGen:C3279675 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Microcephaly 1, primary, autosomal recessive mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Lissencephaly type 3 mondo_mondo_0015148_medgen_c1969029_orphanet_102011 MONDO:MONDO:0015148,MedGen:C1969029,Orphanet:102011 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAMD8 CPAMD8-related disorder cpamd8_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAMD8 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX6B1 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX5A Mitochondrial complex IV deficiency, nuclear type 20 mondo_mondo_0033655_medgen_c5436726_omim_619064 MONDO:MONDO:0033655,MedGen:C5436726,OMIM:619064 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX15 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX10 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORIN Preeclampsia/eclampsia 5 mondo_mondo_0013817_medgen_c3281288_omim_614595 MONDO:MONDO:0013817,MedGen:C3281288,OMIM:614595 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORIN Cardiomyopathy, familial hypertrophic, 30, atrial mondo_mondo_0958241_medgen_c5935586_omim_620734 MONDO:MONDO:0958241,MedGen:C5935586,OMIM:620734 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8B Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Possible mitochondrial disorder - nuclear genes possible_mitochondrial_disorder_nuclear_genes . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Coenzyme Q10 deficiency, primary, 1 mondo_mondo_0011829_medgen_c3551954_omim_607426_orphanet_255249 MONDO:MONDO:0011829,MedGen:C3551954,OMIM:607426,Orphanet:255249 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A COQ8A-related disorder coq8a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ5 Coenzyme q10 deficiency, primary, 9 mondo_mondo_0033615_medgen_c5436638_omim_619028 MONDO:MONDO:0033615,MedGen:C5436638,OMIM:619028 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ4 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB2 Microcephaly 19, primary, autosomal recessive mondo_mondo_0054716_medgen_c4540488_omim_617800 MONDO:MONDO:0054716,MedGen:C4540488,OMIM:617800 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Baralle-Macken syndrome mondo_mondo_0031002_medgen_c5543241_omim_619255 MONDO:MONDO:0031002,MedGen:C5543241,OMIM:619255 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPA condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP Epiphyseal dysplasia, multiple, 1, severe medgen_c4016660 MedGen:C4016660 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLEC11 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLEC10 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Stickler syndrome mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 COL9A3-related disorder col9a3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A1 Epiphyseal dysplasia, multiple, 6 mondo_mondo_0013591_medgen_c2675767_omim_614135 MONDO:MONDO:0013591,MedGen:C2675767,OMIM:614135 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A1 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL8A2 Posterior polymorphous corneal dystrophy 2 mondo_mondo_0012199_medgen_c1852795_omim_609140_orphanet_98973 MONDO:MONDO:0012199,MedGen:C1852795,OMIM:609140,Orphanet:98973 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Toe syndactyly human_phenotype_ontology_hp_0001770_human_phenotype_ontology_hp_0001828_human_phenotype_ontology_hp_0005677_medgen_c0265660 Human_Phenotype_Ontology:HP:0001770,Human_Phenotype_Ontology:HP:0001828,Human_Phenotype_Ontology:HP:0005677,MedGen:C0265660 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Skin erosion human_phenotype_ontology_hp_0200041_medgen_c3887524 Human_Phenotype_Ontology:HP:0200041,MedGen:C3887524 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Scarring alopecia of scalp human_phenotype_ontology_hp_0004552_medgen_c3806301 Human_Phenotype_Ontology:HP:0004552,MedGen:C3806301 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Scarring human_phenotype_ontology_hp_0100699_medgen_c0008767 Human_Phenotype_Ontology:HP:0100699,MedGen:C0008767 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Palmoplantar blistering human_phenotype_ontology_hp_0007446_medgen_c4024876 Human_Phenotype_Ontology:HP:0007446,MedGen:C4024876 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Nonsyndromic congenital nail disorder 4 mondo_mondo_0008798_medgen_c3277900_omim_206800_orphanet_79143_orphanet_94150 MONDO:MONDO:0008798,MedGen:C3277900,OMIM:206800,Orphanet:79143,Orphanet:94150 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Hyperpigmentation of the skin human_phenotype_ontology_hp_0000953_human_phenotype_ontology_hp_0007527_mondo_mondo_0019289_medgen_c0162834_orphanet_79375 Human_Phenotype_Ontology:HP:0000953,Human_Phenotype_Ontology:HP:0007527,MONDO:MONDO:0019289,MedGen:C0162834,Orphanet:79375 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Finger syndactyly human_phenotype_ontology_hp_0006057_human_phenotype_ontology_hp_0006101_medgen_c0221352 Human_Phenotype_Ontology:HP:0006057,Human_Phenotype_Ontology:HP:0006101,MedGen:C0221352 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa, pretibial, autosomal recessive medgen_c4015945 MedGen:C4015945 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 EMG abnormality human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Decreased body weight human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Alopecia of scalp human_phenotype_ontology_hp_0002293_human_phenotype_ontology_hp_0200115_medgen_c0574769 Human_Phenotype_Ontology:HP:0002293,Human_Phenotype_Ontology:HP:0200115,MedGen:C0574769 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Abnormality of the dentition human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Abnormal dental enamel morphology human_phenotype_ontology_hp_0000682_human_phenotype_ontology_hp_0006322_medgen_c4021800 Human_Phenotype_Ontology:HP:0000682,Human_Phenotype_Ontology:HP:0006322,MedGen:C4021800 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Bethlem myopathy mondo_mondo_0008029_medgen_c1834674_omim_ps158810_orphanet_610 MONDO:MONDO:0008029,MedGen:C1834674,OMIM:PS158810,Orphanet:610 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 COL5A2-related disorder col5a2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Soft skin human_phenotype_ontology_hp_0000977_medgen_c1844592 Human_Phenotype_Ontology:HP:0000977,MedGen:C1844592 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Hyperextensible skin human_phenotype_ontology_hp_0000974_human_phenotype_ontology_hp_0007389_human_phenotype_ontology_hp_0007493_human_phenotype_ontology_hp_0007578_medgen_c0241074 Human_Phenotype_Ontology:HP:0000974,Human_Phenotype_Ontology:HP:0007389,Human_Phenotype_Ontology:HP:0007493,Human_Phenotype_Ontology:HP:0007578,MedGen:C0241074 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Ehlers-Danlos syndrome, classic type, 2 mondo_mondo_0019568_medgen_c0268336_omim_130010_orphanet_287_orphanet_90318 MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Bruising susceptibility human_phenotype_ontology_hp_0000959_human_phenotype_ontology_hp_0000978_human_phenotype_ontology_hp_0007433_human_phenotype_ontology_hp_0007472_medgen_c0423798 Human_Phenotype_Ontology:HP:0000959,Human_Phenotype_Ontology:HP:0000978,Human_Phenotype_Ontology:HP:0007433,Human_Phenotype_Ontology:HP:0007472,MedGen:C0423798 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Atrophic scars human_phenotype_ontology_hp_0001075_human_phenotype_ontology_hp_0007567_medgen_c0162154 Human_Phenotype_Ontology:HP:0001075,Human_Phenotype_Ontology:HP:0007567,MedGen:C0162154 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Proteinuria human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Microscopic hematuria human_phenotype_ontology_hp_0002907_medgen_c0239937 Human_Phenotype_Ontology:HP:0002907,MedGen:C0239937 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Microscopic hematuria human_phenotype_ontology_hp_0002907_medgen_c0239937 Human_Phenotype_Ontology:HP:0002907,MedGen:C0239937 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 COL4A2-related disorder col4a2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 COL4A1 or COL4A2-related cerebral small vessel disease medgen_c5680103_orphanet_477759 MedGen:C5680103,Orphanet:477759 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Hereditary spastic paraplegia 4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Aortic dissection human_phenotype_ontology_hp_0002647_medgen_c0340643 Human_Phenotype_Ontology:HP:0002647,MedGen:C0340643 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Otospondylomegaepiphyseal dysplasia, autosomal dominant mondo_mondo_0008490_medgen_c1848488_omim_184840_orphanet_166100_orphanet_3450 MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Autosomal dominant rhegmatogenous retinal detachment mondo_mondo_0016202_medgen_c1836081_orphanet_209867 MONDO:MONDO:0016202,MedGen:C1836081,Orphanet:209867 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL27A1 COL27A1-related disorder col27a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Ehlers-Danlos syndrome, arthrochalasia type mondo_mondo_0007525_medgen_c4551623_omim_130060_orphanet_1899_orphanet_99875_orphanet_99876 MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Stickler syndrome type 2 mondo_mondo_0011493_medgen_c1858084_omim_604841_orphanet_828_orphanet_90654 MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841,Orphanet:828,Orphanet:90654 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteopenia human_phenotype_ontology_hp_0000938_human_phenotype_ontology_hp_0002768_human_phenotype_ontology_hp_0002799_human_phenotype_ontology_hp_0002800_medgen_c0029453 Human_Phenotype_Ontology:HP:0000938,Human_Phenotype_Ontology:HP:0002768,Human_Phenotype_Ontology:HP:0002799,Human_Phenotype_Ontology:HP:0002800,MedGen:C0029453 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteogenesis imperfecta type 1, mild medgen_c4015950 MedGen:C4015950 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 2 mondo_mondo_0040501_medgen_cn293783_omim_617821 MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Blue sclerae human_phenotype_ontology_hp_0000592_medgen_c0542514 Human_Phenotype_Ontology:HP:0000592,MedGen:C0542514 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 High myopia human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 COL12A1-related disorder col12a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Autosomal dominant COL11A1-related disorders autosomal_dominant_col11a1_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL10A1 COL10A1-related disorder col10a1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG4 COG4-Related Disorders cog4_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG2 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COASY COASY-Related Disorders coasy_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COA6 condition not provided condition_not_provided . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP1 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT9 condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT3 Moyamoya angiopathy with developmental delay moyamoya_angiopathy_with_developmental_delay . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT2 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies mondo_mondo_0032832_medgen_c5231426_omim_618608_orphanet_697760 MONDO:MONDO:0032832,MedGen:C5231426,OMIM:618608,Orphanet:697760 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM2 Hereditary spastic paraplegia 45 mondo_mondo_0013165_medgen_c3888209_omim_613162_orphanet_320396 MONDO:MONDO:0013165,MedGen:C3888209,OMIM:613162,Orphanet:320396 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNN2 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNKSR2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Severe early-childhood-onset retinal dystrophy mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB1 CNGB1-related disorder cngb1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB1 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Monochromacy human_phenotype_ontology_hp_0007803_human_phenotype_ontology_hp_0007954_medgen_c5201048 Human_Phenotype_Ontology:HP:0007803,Human_Phenotype_Ontology:HP:0007954,MedGen:C5201048 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Achromatopsia 3 mondo_mondo_0009875_medgen_c1849792_omim_262300_orphanet_49382 MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300,Orphanet:49382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 CLRN1-related disorder clrn1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB Decreased total neutrophil count human_phenotype_ontology_hp_0001875_human_phenotype_ontology_hp_0005515_human_phenotype_ontology_hp_0005533_mondo_mondo_0001475_medgen_c0853697 Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB 3-methylglutaconic aciduria, type VIIA mondo_mondo_0859237_medgen_c5676967_omim_619835 MONDO:MONDO:0859237,MedGen:C5676967,OMIM:619835 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLMP condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLMP Intestinal pseudo-obstruction human_phenotype_ontology_hp_0004389_mondo_mondo_0002803_medgen_c0021847 Human_Phenotype_Ontology:HP:0004389,MONDO:MONDO:0002803,MedGen:C0021847 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLIC5 Autosomal recessive nonsyndromic hearing loss 103 mondo_mondo_0014469_medgen_c4015050_omim_616042_orphanet_90636 MONDO:MONDO:0014469,MedGen:C4015050,OMIM:616042,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN5 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN14 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN14 CLDN14-related disorder cldn14_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN11 Leukodystrophy, hypomyelinating, 22 mondo_mondo_0025701_medgen_c5543406_omim_619328 MONDO:MONDO:0025701,MedGen:C5543406,OMIM:619328 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Bartter syndrome, type 3, with hypocalciuria medgen_c1846344 MedGen:C1846344 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN7 Disorder of bone mondo_mondo_0005381_medgen_c0005940_orphanet_364803 MONDO:MONDO:0005381,MedGen:C0005940,Orphanet:364803 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Dent disease mondo_mondo_0015612_medgen_c0878681_omim_ps300009_orphanet_1652 MONDO:MONDO:0015612,MedGen:C0878681,OMIM:PS300009,Orphanet:1652 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Smith-Lemli-Opitz syndrome mondo_mondo_0010035_medgen_c0175694_omim_270400_orphanet_818 MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Myotonia levior medgen_c0270959 MedGen:C0270959 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 RNU4ATAC-related disorder rnu4atac_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 Hydrocephalus, nonsyndromic, autosomal recessive 1 mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 CLASP1-related disorder clasp1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CKS1B Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIROP Trichothiodystrophy 1, photosensitive mondo_mondo_0011125_medgen_c1866504_omim_601675_orphanet_33364 MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB1 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG CHRNG-related disorder chrng_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Arthrogryposis-like hand anomaly human_phenotype_ontology_hp_0005612_medgen_c4025173 Human_Phenotype_Ontology:HP:0005612,MedGen:C4025173 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Ankle flexion contracture human_phenotype_ontology_hp_0004985_human_phenotype_ontology_hp_0006403_human_phenotype_ontology_hp_0006466_medgen_c1837407 Human_Phenotype_Ontology:HP:0004985,Human_Phenotype_Ontology:HP:0006403,Human_Phenotype_Ontology:HP:0006466,MedGen:C1837407 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Dyspnea human_phenotype_ontology_hp_0002094_medgen_c0013404 Human_Phenotype_Ontology:HP:0002094,MedGen:C0013404 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND CHRND-related disorder chrnd_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Breathing dysregulation human_phenotype_ontology_hp_0005957_medgen_c3808046 Human_Phenotype_Ontology:HP:0005957,MedGen:C3808046 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB4 Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHN1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHMP1A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE tumor_predisposition_syndrome_4_breast_prostate . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Li-Fraumeni syndrome 1 gene_553989_medgen_c1835398_omim_151623_orphanet_524 Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Epilepsy with myoclonic atonic seizures human_phenotype_ontology_hp_0011170_mondo_mondo_0014633_medgen_c0393702_omim_616421_orphanet_1942 Human_Phenotype_Ontology:HP:0011170,MONDO:MONDO:0014633,MedGen:C0393702,OMIM:616421,Orphanet:1942 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD2 Parkinson disease 22, autosomal dominant mondo_mondo_0014742_medgen_c4225238_omim_616710 MONDO:MONDO:0014742,MedGen:C4225238,OMIM:616710 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Respiratory insufficiency human_phenotype_ontology_hp_0002093_human_phenotype_ontology_hp_0004893_human_phenotype_ontology_hp_0005937_human_phenotype_ontology_hp_0006542_medgen_c0035229 Human_Phenotype_Ontology:HP:0002093,Human_Phenotype_Ontology:HP:0004893,Human_Phenotype_Ontology:HP:0005937,Human_Phenotype_Ontology:HP:0006542,MedGen:C0035229 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Progressive ptosis human_phenotype_ontology_hp_0007838_medgen_c1834015 Human_Phenotype_Ontology:HP:0007838,MedGen:C1834015 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Progressive muscle weakness human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Pes planus human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Lactic acidosis human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Gastroesophageal reflux human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Febrile seizure (within the age range of 3 months to 6 years) human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT External ophthalmoplegia human_phenotype_ontology_hp_0000544_human_phenotype_ontology_hp_0007762_medgen_c0162292 Human_Phenotype_Ontology:HP:0000544,Human_Phenotype_Ontology:HP:0007762,MedGen:C0162292 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Decreased activity of the pyruvate dehydrogenase complex human_phenotype_ontology_hp_0002928_medgen_c1839888 Human_Phenotype_Ontology:HP:0002928,MedGen:C1839888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Congenital myasthenic syndrome 4C mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Central sleep apnea human_phenotype_ontology_hp_0010536_mesh_d020182_medgen_c0520680_omim_207720 Human_Phenotype_Ontology:HP:0010536,MeSH:D020182,MedGen:C0520680,OMIM:207720 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Aspiration pneumonia human_phenotype_ontology_hp_0011951_mondo_mondo_0000265_medgen_c0032290 Human_Phenotype_Ontology:HP:0011951,MONDO:MONDO:0000265,MedGen:C0032290 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAMP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis pseudomonas_aeruginosa_susceptibility_to_chronic_infection_by_in_cystic_fibrosis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFHR5 C3 glomerulonephritis mondo_mondo_0013892_medgen_c4055342_omim_614809_orphanet_329931 MONDO:MONDO:0013892,MedGen:C4055342,OMIM:614809,Orphanet:329931 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFH Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFD Neutropenia, severe congenital, 1, autosomal dominant mondo_mondo_0042490_medgen_c1859966_omim_202700 MONDO:MONDO:0042490,MedGen:C1859966,OMIM:202700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFD Cyclical neutropenia human_phenotype_ontology_hp_0040289_mondo_mondo_0008090_medgen_c0221023_omim_162800_orphanet_2686 Human_Phenotype_Ontology:HP:0040289,MONDO:MONDO:0008090,MedGen:C0221023,OMIM:162800,Orphanet:2686 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFB Atypical hemolytic-uremic syndrome with B factor anomaly mondo_mondo_0013042_medgen_c2752038_omim_612924_orphanet_2134 MONDO:MONDO:0013042,MedGen:C2752038,OMIM:612924,Orphanet:2134 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP96 Developmental and epileptic encephalopathy 106 mondo_mondo_0031052_medgen_c5774212_omim_620028 MONDO:MONDO:0031052,MedGen:C5774212,OMIM:620028 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP91 Spermatogenic failure 51 mondo_mondo_0030926_medgen_c5543033_omim_619177 MONDO:MONDO:0030926,MedGen:C5543033,OMIM:619177 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP74 CFAP74-related disorder cfap74_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP65 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP53 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP52 Heterotaxy, visceral, 10, autosomal, with male infertility mondo_mondo_0030474_medgen_c5562072_omim_619607 MONDO:MONDO:0030474,MedGen:C5562072,OMIM:619607 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP418 CFAP418-related disorder cfap418_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 CFAP410-related disorder cfap410_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP300 CFAP300-related disorder cfap300_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP251 Non-syndromic male infertility due to sperm motility disorder medgen_c0403811_orphanet_276234 MedGen:C0403811,Orphanet:276234 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP251 Male infertility with teratozoospermia due to single gene mutation mondo_mondo_0018394_medgen_c4706677_orphanet_399808 MONDO:MONDO:0018394,MedGen:C4706677,Orphanet:399808 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP221 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CES1 DRUG METABOLISM, ALTERED, CES1-RELATED medgen_c4748035_omim_618057 MedGen:C4748035,OMIM:618057 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS3 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS3 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Progressive myoclonic epilepsy type 8 mondo_mondo_0014545_medgen_c5190825_omim_616230_orphanet_424027 MONDO:MONDO:0014545,MedGen:C5190825,OMIM:616230,Orphanet:424027 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Retinal pigment epithelial atrophy human_phenotype_ontology_hp_0007698_human_phenotype_ontology_hp_0007722_human_phenotype_ontology_hp_0008017_medgen_c1840457 Human_Phenotype_Ontology:HP:0007698,Human_Phenotype_Ontology:HP:0007722,Human_Phenotype_Ontology:HP:0008017,MedGen:C1840457 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP78 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP76 condition not provided condition_not_provided . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP76 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP57 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP55 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP55 CEP55-related disorder cep55_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP41 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP41 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Severe hydrocephalus human_phenotype_ontology_hp_0006882_medgen_c3278123 Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Molar tooth sign on MRI human_phenotype_ontology_hp_0002419_medgen_c1865060 Human_Phenotype_Ontology:HP:0002419,MedGen:C1865060 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Hyperechogenic kidneys human_phenotype_ontology_hp_0004719_medgen_c3275899 Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Encephalocele human_phenotype_ontology_hp_0002084_human_phenotype_ontology_hp_0002736_human_phenotype_ontology_hp_0100664_medgen_c4551722 Human_Phenotype_Ontology:HP:0002084,Human_Phenotype_Ontology:HP:0002736,Human_Phenotype_Ontology:HP:0100664,MedGen:C4551722 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Cystic renal dysplasia human_phenotype_ontology_hp_0000800_human_phenotype_ontology_hp_0008737_medgen_c1834931 Human_Phenotype_Ontology:HP:0000800,Human_Phenotype_Ontology:HP:0008737,MedGen:C1834931 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Cerebellar cyst human_phenotype_ontology_hp_0002350_medgen_c1847762 Human_Phenotype_Ontology:HP:0002350,MedGen:C1847762 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Central hypotonia human_phenotype_ontology_hp_0011398_medgen_c1842364 Human_Phenotype_Ontology:HP:0011398,MedGen:C1842364 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Abnormality of the kidney human_phenotype_ontology_hp_0000077_medgen_c0266292 Human_Phenotype_Ontology:HP:0000077,MedGen:C0266292 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP250 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP164 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP135 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPF Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENATAC Mosaic variegated aneuploidy syndrome 4 mondo_mondo_0859329_medgen_c5774267_omim_620153 MONDO:MONDO:0859329,MedGen:C5774267,OMIM:620153 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEMIP2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEMIP2 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEMIP2 Joint laxity human_phenotype_ontology_hp_0001380_human_phenotype_ontology_hp_0001383_human_phenotype_ontology_hp_0001388_human_phenotype_ontology_hp_0002771_medgen_c0086437 Human_Phenotype_Ontology:HP:0001380,Human_Phenotype_Ontology:HP:0001383,Human_Phenotype_Ontology:HP:0001388,Human_Phenotype_Ontology:HP:0002771,MedGen:C0086437 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEMIP2 Inguinal hernia human_phenotype_ontology_hp_0000023_medgen_c0019294 Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEMIP2 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEMIP2 Abnormal sternum morphology human_phenotype_ontology_hp_0000766_human_phenotype_ontology_hp_0000780_human_phenotype_ontology_hp_0006586_human_phenotype_ontology_hp_0006594_human_phenotype_ontology_hp_0006605_human_phenotype_ontology_hp_0006630_human_phenotype_ontology_hp_0006708_medgen_c1860493 Human_Phenotype_Ontology:HP:0000766,Human_Phenotype_Ontology:HP:0000780,Human_Phenotype_Ontology:HP:0006586,Human_Phenotype_Ontology:HP:0006594,Human_Phenotype_Ontology:HP:0006605,Human_Phenotype_Ontology:HP:0006630,Human_Phenotype_Ontology:HP:0006708,MedGen:C1860493 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR3 Congenital anomalies of kidney and urinary tract 1 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDSN Hypotrichosis 2 mondo_mondo_0007805_medgen_c1840299_omim_146520_orphanet_90368 MONDO:MONDO:0007805,MedGen:C1840299,OMIM:146520,Orphanet:90368 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Acute lymphoid leukemia human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 RS1-related disorder rs1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Developmental delay medgen_c0424605 MedGen:C0424605 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK5 Lissencephaly 7 with cerebellar hypoplasia mondo_mondo_0014596_medgen_c4225359_omim_616342 MONDO:MONDO:0014596,MedGen:C4225359,OMIM:616342 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK4 Melanoma, cutaneous malignant, susceptibility to, 3 mondo_mondo_0012183_medgen_c1836892_omim_609048_orphanet_618 MONDO:MONDO:0012183,MedGen:C1836892,OMIM:609048,Orphanet:618 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK4 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK4 Familial melanoma mondo_mondo_0018961_medgen_c1512419_orphanet_618 MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 CDHR1-related disorder cdhr1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Diffuse gastric and lobular breast cancer syndrome with cleft lip and with or without cleft palate medgen_c5677027 MedGen:C5677027 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 mondo_mondo_0014828_medgen_c4310799_omim_616910_orphanet_2268 MONDO:MONDO:0014828,MedGen:C4310799,OMIM:616910,Orphanet:2268 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Ossifying fibroma of the jaw human_phenotype_ontology_hp_0030427_medgen_c4072940 Human_Phenotype_Ontology:HP:0030427,MedGen:C4072940 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 CDC73-related disorder cdc73_related_disorder MedGen:CN169292 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 CDC42-related disorder cdc42_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC14A Monogenic hearing loss monogenic_hearing_loss . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC14A Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDAN1 CDAN1-related disorder cdan1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD63 Retinitis punctata albescens mondo_mondo_0018877_medgen_c1405854_orphanet_52427 MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD63 Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD55 Cromer blood group system medgen_c1292305_omim_613793 MedGen:C1292305,OMIM:613793 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD46 Familial Atypical Hemolytic-Uremic Syndrome medgen_c4055018 MedGen:C4055018 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD4 Immunodeficiency 79 mondo_mondo_0030981_medgen_c5543220_omim_619238 MONDO:MONDO:0030981,MedGen:C5543220,OMIM:619238 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD19 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCT3 Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination mondo_mondo_0976125_medgen_c5975545_omim_621034 MONDO:MONDO:0976125,MedGen:C5975545,OMIM:621034 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCP110 condition not provided condition_not_provided . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNQ condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Basal cell carcinoma, somatic medgen_c3838465 MedGen:C3838465 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCN6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCN6 CCN6-related disorder ccn6_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCN2 Kyphomelic dysplasia mondo_mondo_0008881_medgen_c0432239_omim_211350_orphanet_1801 MONDO:MONDO:0008881,MedGen:C0432239,OMIM:211350,Orphanet:1801 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC88C Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC8 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC50 Autosomal dominant nonsyndromic hearing loss 44 mondo_mondo_0011832_medgen_c1843895_omim_607453_orphanet_90635 MONDO:MONDO:0011832,MedGen:C1843895,OMIM:607453,Orphanet:90635 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC39 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC34 Spermatogenic failure 76 mondo_mondo_0031077_medgen_c5774236_omim_620084 MONDO:MONDO:0031077,MedGen:C5774236,OMIM:620084 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC32 Cardiofacioneurodevelopmental syndrome mondo_mondo_0030873_medgen_c5436852_omim_619123 MONDO:MONDO:0030873,MedGen:C5436852,OMIM:619123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC22 Ritscher-Schinzel syndrome 2 mondo_mondo_0010499_medgen_c4225419_omim_300963_orphanet_7 MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC22 Ritscher-Schinzel syndrome 1 mondo_mondo_0009073_medgen_c4551776_omim_220210_orphanet_7 MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210,Orphanet:7 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC146 Spermatogenic failure 94 mondo_mondo_0971002_medgen_c5935627_omim_620850 MONDO:MONDO:0971002,MedGen:C5935627,OMIM:620850 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC146 Male infertility with spermatogenesis disorder due to single gene mutation medgen_c5681166_orphanet_399786 MedGen:C5681166,Orphanet:399786 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC146 Male infertility due to sperm motility disorder medgen_c5680032_orphanet_399813 MedGen:C5680032,Orphanet:399813 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Polydactyly, postaxial, type A1 mondo_mondo_0008266_medgen_c4282400_omim_174200 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Oligohydramnios human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Narrow chest human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Anencephaly human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBY1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBX2 46,XY sex reversal 5 mondo_mondo_0013120_medgen_c2751317_omim_613080_orphanet_242 MONDO:MONDO:0013120,MedGen:C2751317,OMIM:613080,Orphanet:242 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBFB Cleidocranial dysplasia 2 mondo_mondo_0859307_medgen_c5774243_omim_620099 MONDO:MONDO:0859307,MedGen:C5774243,OMIM:620099 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAT Acatalasemia, japanese type medgen_c2936847 MedGen:C2936847 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASZ1 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAST CAST-related disorder cast_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAST Body mass index quantitative trait locus 12 medgen_c2676498_omim_612362 MedGen:C2676498,OMIM:612362 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ1 Myopathy due to calsequestrin and SERCA1 protein overload mondo_mondo_0014546_medgen_c4015624_omim_616231_orphanet_88635 MONDO:MONDO:0014546,MedGen:C4015624,OMIM:616231,Orphanet:88635 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK CASK-related syndromic intellectual disability cask_related_syndromic_intellectual_disability . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Anemia, nonspherocytic hemolytic, due to G6PD deficiency mondo_mondo_0010480_medgen_c2720289_omim_300908_orphanet_466026 MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASD1 SGCE-related disorder sgce_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPZA2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPNS1 Pulmonary hypertension, primary, 6 mondo_mondo_0958334_medgen_c5935600_omim_620777 MONDO:MONDO:0958334,MedGen:C5935600,OMIM:620777 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Progressive spinal muscular atrophy human_phenotype_ontology_hp_0009067_mondo_mondo_0018687_medgen_c4082951_orphanet_454706 Human_Phenotype_Ontology:HP:0009067,MONDO:MONDO:0018687,MedGen:C4082951,Orphanet:454706 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Positive Romberg sign human_phenotype_ontology_hp_0002403_medgen_c0240914 Human_Phenotype_Ontology:HP:0002403,MedGen:C0240914 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Paresthesia human_phenotype_ontology_hp_0002082_human_phenotype_ontology_hp_0003401_medgen_c0030554 Human_Phenotype_Ontology:HP:0002082,Human_Phenotype_Ontology:HP:0003401,MedGen:C0030554 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Migraine human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Lower-limb joint contracture human_phenotype_ontology_hp_0005750_medgen_c1859523 Human_Phenotype_Ontology:HP:0005750,MedGen:C1859523 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Elbow flexion contracture human_phenotype_ontology_hp_0002987_human_phenotype_ontology_hp_0003937_human_phenotype_ontology_hp_0004984_human_phenotype_ontology_hp_0005654_medgen_c0409338 Human_Phenotype_Ontology:HP:0002987,Human_Phenotype_Ontology:HP:0003937,Human_Phenotype_Ontology:HP:0004984,Human_Phenotype_Ontology:HP:0005654,MedGen:C0409338 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 EMG: neuropathic changes human_phenotype_ontology_hp_0002178_human_phenotype_ontology_hp_0002547_human_phenotype_ontology_hp_0003445_human_phenotype_ontology_hp_0007279_medgen_c4021727 Human_Phenotype_Ontology:HP:0002178,Human_Phenotype_Ontology:HP:0002547,Human_Phenotype_Ontology:HP:0003445,Human_Phenotype_Ontology:HP:0007279,MedGen:C4021727 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Absent muscle fiber calpain-3 human_phenotype_ontology_hp_0030120_medgen_c4022625 Human_Phenotype_Ontology:HP:0030120,MedGen:C4022625 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Absent Achilles reflex human_phenotype_ontology_hp_0003438_human_phenotype_ontology_hp_0007032_human_phenotype_ontology_hp_0007241_medgen_c0558845 Human_Phenotype_Ontology:HP:0003438,Human_Phenotype_Ontology:HP:0007032,Human_Phenotype_Ontology:HP:0007241,MedGen:C0558845 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN1 CAPN1-related disorder capn1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 CANT1-related disorder cant1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMTA1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2D condition not provided condition_not_provided .|MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALR condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALR Thrombocythemia 1 mondo_mondo_0008554_medgen_c3277671_omim_187950 MONDO:MONDO:0008554,MedGen:C3277671,OMIM:187950 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALR Primary myelofibrosis mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM3 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN517202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM1 Catecholaminergic polymorphic ventricular tachycardia 1 mondo_mondo_0011484_medgen_c1631597_omim_604772_orphanet_3286 MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM1 CALM1-related disorder calm1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNB4 Epilepsy, idiopathic generalized, susceptibility to, 9 mondo_mondo_0011892_medgen_c2750887_omim_607682_orphanet_307 MONDO:MONDO:0011892,MedGen:C2750887,OMIM:607682,Orphanet:307 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNB2 Brugada syndrome 4 mondo_mondo_0012743_medgen_c2678477_omim_611876_orphanet_130 MONDO:MONDO:0012743,MedGen:C2678477,OMIM:611876,Orphanet:130 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1H Primary aldosteronism human_phenotype_ontology_hp_0011736_mondo_mondo_0001422_medgen_c1384514 Human_Phenotype_Ontology:HP:0011736,MONDO:MONDO:0001422,MedGen:C1384514 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1H Hyperaldosteronism, familial, type IV mondo_mondo_0014875_medgen_c4310756_omim_617027_orphanet_642671 MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F X-linked CACNA1F-related disorders x_linked_cacna1f_related_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1D Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Brugada syndrome mondo_mondo_0015263_medgen_c1142166_omim_ps601144_orphanet_130 MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Paroxysmal central nervous system disorders paroxysmal_central_nervous_system_disorders . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Hereditary episodic ataxia human_phenotype_ontology_hp_0002131_human_phenotype_ontology_hp_0006862_human_phenotype_ontology_hp_0007152_human_phenotype_ontology_hp_0007214_mondo_mondo_0016227_medgen_c1720189_omim_ps160120_orphanet_211062 Human_Phenotype_Ontology:HP:0002131,Human_Phenotype_Ontology:HP:0006862,Human_Phenotype_Ontology:HP:0007152,Human_Phenotype_Ontology:HP:0007214,MONDO:MONDO:0016227,MedGen:C1720189,OMIM:PS160120,Orphanet:211062 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP2 CABP2-related disorder cabp2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA2 CARBONIC ANHYDRASE II VARIANT carbonic_anhydrase_ii_variant . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA2 CA2-related disorder ca2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C8B Complement component 6 deficiency mondo_mondo_0012908_medgen_c2676232_omim_612446 MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 Familial Atypical Hemolytic-Uremic Syndrome medgen_c4055018 MedGen:C4055018 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 C3 DEFICIENCY medgen_c1332655 MedGen:C1332655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2CD3 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2CD3 C2CD3-related disorder c2cd3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1S Ehlers-Danlos syndrome, periodontal type 1 mondo_mondo_0020684_medgen_c4551499_omim_130080_orphanet_75392 MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080,Orphanet:75392 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QC condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QC C1Q deficiency mondo_mondo_0013343_medgen_c3150902_omim_ps613652 MONDO:MONDO:0013343,MedGen:C3150902,OMIM:PS613652 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QB condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 C19orf12-related disorder c19orf12_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Sclerocornea human_phenotype_ontology_hp_0000647_mondo_mondo_0019629_medgen_c1853235_orphanet_91490 Human_Phenotype_Ontology:HP:0000647,MONDO:MONDO:0019629,MedGen:C1853235,Orphanet:91490 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF60 Meconium ileus human_phenotype_ontology_hp_0002610_human_phenotype_ontology_hp_0004401_human_phenotype_ontology_hp_0004402_mondo_mondo_0054868_medgen_c2939175_orphanet_314376 Human_Phenotype_Ontology:HP:0002610,Human_Phenotype_Ontology:HP:0004401,Human_Phenotype_Ontology:HP:0004402,MONDO:MONDO:0054868,MedGen:C2939175,Orphanet:314376 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF43 Maturity-onset diabetes of the young type 3 mondo_mondo_0010894_medgen_c1838100_omim_600496_orphanet_552 MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF43 Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 T-cell prolymphocytic leukemia mondo_mondo_0019468_medgen_c2363142_orphanet_86871 MONDO:MONDO:0019468,MedGen:C2363142,Orphanet:86871 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Inherited prostate cancer inherited_prostate_cancer . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Ataxia-telangiectasia without immunodeficiency medgen_c4017102 MedGen:C4017102 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1 Colorectal cancer with chromosomal instability, somatic medgen_c5231530 MedGen:C5231530 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTK BTK-related disorder btk_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSND Sensorineural deafness with mild renal dysfunction medgen_c2748440 MedGen:C2748440 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSND Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSN BSN-associated seizure disorder bsn_associated_seizure_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Neuronopathy, distal hereditary motor, type 5A mondo_mondo_0015353_medgen_cn031873_omim_600794_orphanet_139536 MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Lipodystrophy human_phenotype_ontology_hp_0009125_mondo_mondo_0006573_medgen_c0023787 Human_Phenotype_Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C0023787 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 BSCL2-related disorder bscl2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD3 BRWD3-related disorder brwd3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRSK2 BRSK2-related disorder brsk2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRPF1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRPF1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Breast cancer, early-onset medgen_c4016951 MedGen:C4016951 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRF1 BRF1-related disorder brf1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Infiltrating duct carcinoma of breast mondo_mondo_0004953_medgen_c1412014 MONDO:MONDO:0004953,MedGen:C1412014 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Familial colorectal cancer type X mondo_mondo_0018604_medgen_c3896578_orphanet_440437 MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Chordoma human_phenotype_ontology_hp_0010762_mondo_mondo_0008978_medgen_c0008487_orphanet_178 Human_Phenotype_Ontology:HP:0010762,MONDO:MONDO:0008978,MedGen:C0008487,Orphanet:178 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Inherited prostate cancer inherited_prostate_cancer . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Infiltrating duct carcinoma of breast mondo_mondo_0004953_medgen_c1412014 MONDO:MONDO:0004953,MedGen:C1412014 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Breast-ovarian cancer, familial, susceptibility to, 2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Noonan syndrome with multiple lentigines mondo_mondo_0007893_medgen_c0175704_omim_ps151100_orphanet_500 MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Non-Hodgkin lymphoma human_phenotype_ontology_hp_0012539_mondo_mondo_0018908_medgen_c0024305_orphanet_547 Human_Phenotype_Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Ataxia-telangiectasia syndrome mondo_mondo_0008840_medgen_c0004135_omim_208900_orphanet_100 MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BOD1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BNC2 Lower urinary tract obstruction, congenital mondo_mondo_0032833_medgen_c5231427_omim_618612 MONDO:MONDO:0032833,MedGen:C5231427,OMIM:618612 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BNC2 Lower Urinary Tract Obstruction lower_urinary_tract_obstruction . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BNC1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary hypertension, primary, dexfenfluramine-associated medgen_c1969342 MedGen:C1969342 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary arterial hypertension associated with another disease medgen_c5679756_orphanet_275791 MedGen:C5679756,Orphanet:275791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP5 Patellar aplasia human_phenotype_ontology_hp_0003046_human_phenotype_ontology_hp_0006443_human_phenotype_ontology_hp_0006475_medgen_c1868578 Human_Phenotype_Ontology:HP:0003046,Human_Phenotype_Ontology:HP:0006443,Human_Phenotype_Ontology:HP:0006475,MedGen:C1868578 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP5 Microtia human_phenotype_ontology_hp_0000393_human_phenotype_ontology_hp_0000409_human_phenotype_ontology_hp_0008550_human_phenotype_ontology_hp_0008551_human_phenotype_ontology_hp_0008618_human_phenotype_ontology_hp_0008621_medgen_c0152423 Human_Phenotype_Ontology:HP:0000393,Human_Phenotype_Ontology:HP:0000409,Human_Phenotype_Ontology:HP:0008550,Human_Phenotype_Ontology:HP:0008551,Human_Phenotype_Ontology:HP:0008618,Human_Phenotype_Ontology:HP:0008621,MedGen:C0152423 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP5 Hypoplastic ischiopubic ramus human_phenotype_ontology_hp_0008822_medgen_c4024617 Human_Phenotype_Ontology:HP:0008822,MedGen:C4024617 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP5 Atrioventricular canal defect human_phenotype_ontology_hp_0005139_human_phenotype_ontology_hp_0005298_human_phenotype_ontology_hp_0006695_human_phenotype_ontology_hp_0010439_medgen_c1389016 Human_Phenotype_Ontology:HP:0005139,Human_Phenotype_Ontology:HP:0005298,Human_Phenotype_Ontology:HP:0006695,Human_Phenotype_Ontology:HP:0010439,MedGen:C1389016 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP4 Orofacial cleft 11 mondo_mondo_0010906_medgen_c2677434_omim_600625 MONDO:MONDO:0010906,MedGen:C2677434,OMIM:600625 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP2 Type A2 brachydactyly human_phenotype_ontology_hp_0009372_mondo_mondo_0007216_medgen_c1832702_omim_112600_orphanet_93396 Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP2 BMP2-related disorder bmp2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP15 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Severe hydrocephalus human_phenotype_ontology_hp_0006882_medgen_c3278123 Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLOC1S6 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLNK BLNK-related disorder blnk_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLK Systemic lupus erythematosus human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICRA BICRA-related disorder bicra_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 Cataract 12 multiple types mondo_mondo_0012701_medgen_c3808115_omim_611597_orphanet_91492 MONDO:MONDO:0012701,MedGen:C3808115,OMIM:611597,Orphanet:91492 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BDP1 Hearing loss, autosomal recessive 112 mondo_mondo_0032639_medgen_c4748855_omim_618257 MONDO:MONDO:0032639,MedGen:C4748855,OMIM:618257 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY medgen_c4016851 MedGen:C4016851 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCORL1 Shukla-Vernon syndrome mondo_mondo_0026727_medgen_c5193146_omim_301029 MONDO:MONDO:0026727,MedGen:C5193146,OMIM:301029 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCORL1 Oligoasthenoteratozoospermia mondo_mondo_0850098_medgen_cn372097 MONDO:MONDO:0850098,MedGen:CN372097 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCLAF1 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 Mesothelioma mondo_mondo_0005065_medgen_c0025500 MONDO:MONDO:0005065,MedGen:C0025500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAP31 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Early onset severe obesity medgen_c4013980 MedGen:C4013980 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS4 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Early onset severe obesity medgen_c4013980 MedGen:C4013980 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Bardet-biedl syndrome 1/2, digenic medgen_c4016957 MedGen:C4016957 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 BARDET-BIEDL SYNDROME 2/6, DIGENIC medgen_c4016908 MedGen:C4016908 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Early onset severe obesity medgen_c4013980 MedGen:C4013980 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAZ2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAZ2B BAZ2B-related Neurodevelopmental disorder baz2b_related_neurodevelopmental_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAX T-cell acute lymphoblastic leukemia human_phenotype_ontology_hp_0006727_mondo_mondo_0004963_medgen_c1961099 Human_Phenotype_Ontology:HP:0006727,MONDO:MONDO:0004963,MedGen:C1961099 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Triple-Negative Breast Cancer Finding medgen_c2348819 MedGen:C2348819 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Myocarditis human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D1 Meckel syndrome, type 9 mondo_mondo_0013630_medgen_c3280155_omim_614209_orphanet_564 MONDO:MONDO:0013630,MedGen:C3280155,OMIM:614209,Orphanet:564 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT1 B4GALT1-congenital disorder of glycosylation mondo_mondo_0011772_medgen_c2931009_omim_607091_orphanet_79332 MONDO:MONDO:0011772,MedGen:C2931009,OMIM:607091,Orphanet:79332 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GLCT B3GLCT-related disorder b3glct_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GAT3 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_with_congenital_heart_defects . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALNT2 B3GALNT2-related disorder b3galnt2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B2M Familial visceral amyloidosis, Ostertag type mondo_mondo_0007099_medgen_c0268389_omim_105200_orphanet_85450 MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AURKC condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Microcephalic Primordial Dwarfism with immunodeficiency microcephalic_primordial_dwarfism_with_immunodeficiency . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Chilblain lupus mondo_mondo_0019557_medgen_c4551515_orphanet_90280 MONDO:MONDO:0019557,MedGen:C4551515,Orphanet:90280 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Aicardi-Goutieres syndrome 1, autosomal dominant medgen_c3150315 MedGen:C3150315 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B1 Familial intrahepatic cholestasis type 1 familial_intrahepatic_cholestasis_type_1 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B2 Autosomal dominant deafness - onychodystrophy syndrome mondo_mondo_0007420_medgen_c2675730_omim_124480_orphanet_3231_orphanet_79499 MONDO:MONDO:0007420,MedGen:C2675730,OMIM:124480,Orphanet:3231,Orphanet:79499 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Nephrocalcinosis human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0C Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A4 Renal tubulopathies renal_tubulopathies . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5PO Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5PO Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5PO Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5PO Dysphagia human_phenotype_ontology_hp_0002015_human_phenotype_ontology_hp_0002569_medgen_c0011168 Human_Phenotype_Ontology:HP:0002015,Human_Phenotype_Ontology:HP:0002569,MedGen:C0011168 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1D Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 mondo_mondo_0020858_medgen_c4748269_omim_618120 MONDO:MONDO:0020858,MedGen:C4748269,OMIM:618120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1A condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1A Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A mondo_mondo_0957254_medgen_c5830480_omim_620358 MONDO:MONDO:0957254,MedGen:C5830480,OMIM:620358 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1A Combined oxidative phosphorylation deficiency 22 mondo_mondo_0020727_medgen_c4015062_omim_616045 MONDO:MONDO:0020727,MedGen:C4015062,OMIM:616045 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B2 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B2 ATP2B2-related disorder atp2b2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Periventricular nodular heterotopia human_phenotype_ontology_hp_0032388_mondo_mondo_0020341_mesh_d054091_medgen_c1868720_omim_ps300049_orphanet_98892 Human_Phenotype_Ontology:HP:0032388,MONDO:MONDO:0020341,MeSH:D054091,MedGen:C1868720,OMIM:PS300049,Orphanet:98892 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Isolated Pierre-Robin syndrome human_phenotype_ontology_hp_0000201_mondo_mondo_0009869_medgen_c0031900_omim_261800_orphanet_718 Human_Phenotype_Ontology:HP:0000201,MONDO:MONDO:0009869,MedGen:C0031900,OMIM:261800,Orphanet:718 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Hypocalcemia human_phenotype_ontology_hp_0002901_medgen_c0020598 Human_Phenotype_Ontology:HP:0002901,MedGen:C0020598 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A2 Darier disease, segmental medgen_c1852297 MedGen:C1852297 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A2 Darier disease, acral hemorrhagic type medgen_c1852296 MedGen:C1852296 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Alternating hemiplegia of childhood mondo_mondo_0016241_medgen_c0338488_omim_ps104290_orphanet_2131 MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP11C X-linked congenital hemolytic anemia mondo_mondo_0060455_medgen_c4746970_omim_301015 MONDO:MONDO:0060455,MedGen:C4746970,OMIM:301015 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATOH1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATN1 ATN1-related disorder atn1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Neoplasm human_phenotype_ontology_hp_0002664_human_phenotype_ontology_hp_0003008_human_phenotype_ontology_hp_0006741_mondo_mondo_0005070_mesh_d009369_medgen_c0027651 Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Mantle cell lymphoma mondo_mondo_0018876_medgen_c4721414_orphanet_52416 MONDO:MONDO:0018876,MedGen:C4721414,Orphanet:52416 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Inherited prostate cancer inherited_prostate_cancer . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Familial ovarian cancer mondo_mondo_0016248_medgen_c5679802 MONDO:MONDO:0016248,MedGen:C5679802 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Ataxia-telangiectasia without immunodeficiency medgen_c4017102 MedGen:C4017102 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Ataxia telangiectasi ataxia_telangiectasi . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATIC condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATF6 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATCAY condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATCAY Cayman type cerebellar ataxia mondo_mondo_0011025_medgen_c1832585_omim_601238_orphanet_94122 MONDO:MONDO:0011025,MedGen:C1832585,OMIM:601238,Orphanet:94122 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATAD1 Hyperekplexia 4 mondo_mondo_0044330_medgen_c4693933_omim_618011 MONDO:MONDO:0044330,MedGen:C4693933,OMIM:618011 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Rubinstein Taybi like syndrome mondo_mondo_0043195_medgen_c2931052 MONDO:MONDO:0043195,MedGen:C2931052 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 Citrullinemia, mild medgen_c4016834 MedGen:C4016834 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPA Mild Canavan disease mondo_mondo_0017831_medgen_c4017127_orphanet_314918 MONDO:MONDO:0017831,MedGen:C4017127,Orphanet:314918 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPA ASPA-related disorder aspa_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASNS Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASNS ASNS-related disorder asns_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH1L Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Hydranencephaly with abnormal genitalia medgen_c1846172 MedGen:C1846172 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA METACHROMATIC LEUKODYSTROPHY, MILD medgen_c4017847 MedGen:C4017847 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Lysosomal storage disease mondo_mondo_0002561_medgen_c0085078_orphanet_68366 MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARPC5 Immunodeficiency 113 with autoimmunity and autoinflammation mondo_mondo_0957920_medgen_c5882711_omim_620565 MONDO:MONDO:0957920,MedGen:C5882711,OMIM:620565 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARPC1B Combined immunodeficiency human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC9 Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6IP1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL2BP Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL2BP Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 ARID2-related disorder arid2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Hypertrichosis human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Coffin Siris/Intellectual Disability coffin_siris_intellectual_disability MedGen:CN185481 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP6 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP35 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP29 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARCN1 ARCN1-related disorder arcn1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Prostate cancer, hereditary, X-linked 3 mondo_mondo_0971170_medgen_c5935569_omim_301120 MONDO:MONDO:0971170,MedGen:C5935569,OMIM:301120 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Disorder of sexual differentiation mondo_mondo_0002145_medgen_c2930619_orphanet_90771 MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP2 AQP2-related nephrogenic diabetes insipidus aqp2_related_nephrogenic_diabetes_insipidus . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APTX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP APP-related disorder app_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Sea-blue histiocyte syndrome human_phenotype_ontology_hp_0001982_mondo_mondo_0010017_medgen_c0036489_omim_269600_orphanet_158029 Human_Phenotype_Ontology:HP:0001982,MONDO:MONDO:0010017,MedGen:C0036489,OMIM:269600,Orphanet:158029 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Homozygous familial hypercholesterolemia mondo_mondo_0018328_medgen_c0342881_orphanet_391665 MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:391665 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Early-onset coronary artery disease medgen_c4229399 MedGen:C4229399 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA4 Tubulointerstitial kidney disease, autosomal dominant 6 mondo_mondo_0976234_medgen_c6012701_omim_621106 MONDO:MONDO:0976234,MedGen:C6012701,OMIM:621106 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Hepatoblastoma human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Desmoid tumor human_phenotype_ontology_hp_6001034_mondo_mondo_0007608_medgen_c0079218_orphanet_873 Human_Phenotype_Ontology:HP:6001034,MONDO:MONDO:0007608,MedGen:C0079218,Orphanet:873 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC BRAIN TUMOR-POLYPOSIS SYNDROME 2 medgen_c2673218 MedGen:C2673218 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Adenomatous colonic polyposis human_phenotype_ontology_hp_0005226_human_phenotype_ontology_hp_0005227_medgen_c1868071 Human_Phenotype_Ontology:HP:0005226,Human_Phenotype_Ontology:HP:0005227,MedGen:C1868071 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC APC-related attenuated familial adenomatous polyposis mondo_mondo_0016613_medgen_cn276349 MONDO:MONDO:0016613,MedGen:CN276349 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APBB1 condition not provided condition_not_provided MedGen:C3661900|MedGen:CN169374 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APBB1 Sphingomyelin/cholesterol lipidosis mondo_mondo_0001982_medgen_c0028064 MONDO:MONDO:0001982,MedGen:C0028064 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APBB1 SMPD1-related disorder smpd1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APBB1 Niemann-Pick disease, type B mondo_mondo_0011871_medgen_c0268243_omim_607616_orphanet_77293 MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APBB1 Niemann-Pick disease, type A mondo_mondo_0009756_medgen_c0268242_omim_257200_orphanet_77292 MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5M1 Macular dystrophy with or without extraocular features macular_dystrophy_with_or_without_extraocular_features . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 AP4S1-related disorder ap4s1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 AP4M1-related disorder ap4m1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 AP4B1-related disorder ap4b1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3B2 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3B1 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1G1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANXA11 ANXA11-related disorder anxa11_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANTXR1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO10 Triglyceride storage disease with ichthyosis mondo_mondo_0010155_medgen_c0268238_omim_275630_orphanet_98907 MONDO:MONDO:0010155,MedGen:C0268238,OMIM:275630,Orphanet:98907 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO1 Moyamoya disease 7 mondo_mondo_0958202_medgen_c5882748_omim_620687 MONDO:MONDO:0958202,MedGen:C5882748,OMIM:620687 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANLN Focal segmental glomerulosclerosis 8 mondo_mondo_0014462_medgen_c4014993_omim_616032_orphanet_656 MONDO:MONDO:0014462,MedGen:C4014993,OMIM:616032,Orphanet:656 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD36 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD31 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Developmental disorder medgen_c0008073 MedGen:C0008073 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 ANK2-associated disorder ank2_associated_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 ANK2-associated Neurodevelopmental Disorder ank2_associated_neurodevelopmental_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK1 Hereditary spherocytosis mondo_mondo_0019350_medgen_c0037889_orphanet_822 MONDO:MONDO:0019350,MedGen:C0037889,Orphanet:822 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANGPT2 Microcephaly 1, primary, autosomal recessive mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANGPT2 Lymphatic malformation 10 mondo_mondo_0023662_medgen_c5543531_omim_619369 MONDO:MONDO:0023662,MedGen:C5543531,OMIM:619369 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD1 Muscle AMP deaminase deficiency mondo_mondo_0014220_medgen_c3714933_omim_615511_orphanet_45 MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMOTL1 AMOTL1-associated disorder amotl1_associated_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMN Imerslund-Grasbeck syndrome type 1 mondo_mondo_0100156_medgen_c4016819_omim_261100 MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMH Differences in sex development differences_in_sex_development . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMELX condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMD1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMACR condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMACR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMACR Congenital bile acid synthesis defect 4 mondo_mondo_0008967_medgen_c1858328_omim_214950_orphanet_79095 MONDO:MONDO:0008967,MedGen:C1858328,OMIM:214950,Orphanet:79095 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Perinatal lethal hypophosphatasia mondo_mondo_0016605_medgen_c2673477_orphanet_247623 MONDO:MONDO:0016605,MedGen:C2673477,Orphanet:247623 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL ALPL-related autosomal recessive hypophosphatasia mondo_mondo_0100609_medgen_cn379221 MONDO:MONDO:0100609,MedGen:CN379221 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Autosomal recessive congenital ichthyosis mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B ALOX12B-related disorder alox12b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALKBH8 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALK Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 Polycystic kidney disease, adult type mondo_mondo_0008263_medgen_c3149841_omim_173900 MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG2 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG11 ALG11-related disorder alg11_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant mondo_mondo_0020741_medgen_cn293409 MONDO:MONDO:0020741,MedGen:CN293409 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH1A3 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 P5CS deficiency mondo_mondo_0100126_medgen_cn294786 MONDO:MONDO:0100126,MedGen:CN294786 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALB Hyperthyroxinemia, familial dysalbuminemic mondo_mondo_0014448_medgen_c0342185_omim_615999 MONDO:MONDO:0014448,MedGen:C0342185,OMIM:615999 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALB Alloalbuminemia alloalbuminemia MedGen:CN220290 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALAD condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT2 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT1 Proteus syndrome mondo_mondo_0008318_medgen_c0085261_omim_176920_orphanet_744 MONDO:MONDO:0008318,MedGen:C0085261,OMIM:176920,Orphanet:744 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKR1D1 AKR1D1-related disorder akr1d1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKAP9 Long QT syndrome 11 mondo_mondo_0012738_medgen_c2678483_omim_611820_orphanet_101016_orphanet_768 MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKAP9 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKAP3 Spermatogenic failure 82 mondo_mondo_0957249_medgen_c5830468_omim_620353 MONDO:MONDO:0957249,MedGen:C5830468,OMIM:620353 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AK1 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIRE Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIRE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIRE Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia medgen_c2749602 MedGen:C2749602 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIP Pituitary adenoma predisposition medgen_c1863340 MedGen:C1863340 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIP Familial isolated pituitary adenoma mondo_mondo_0017824_medgen_c2676191_omim_ps102200_orphanet_314777 MONDO:MONDO:0017824,MedGen:C2676191,OMIM:PS102200,Orphanet:314777 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AICDA AICDA-related disorder aicda_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 AHI1-related disorder ahi1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHCY condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTPBP1 AGTPBP1-related disorder agtpbp1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGT Essential hypertension, genetic mondo_mondo_0007781_medgen_cn305331_omim_145500 MONDO:MONDO:0007781,MedGen:CN305331,OMIM:145500 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGRN Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGRN Fetal akinesia deformation sequence mondo_mondo_0008824_medgen_cn263240_omim_ps208150 MONDO:MONDO:0008824,MedGen:CN263240,OMIM:PS208150 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGR2 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPS Rhizomelic chondrodysplasia punctata mondo_mondo_0015776_medgen_c0282529_omim_ps215100_orphanet_177 MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100,Orphanet:177 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPAT2 Congenital generalized lipodystrophy human_phenotype_ontology_hp_0009059_mondo_mondo_0006536_medgen_c0221032_omim_ps608594 Human_Phenotype_Ontology:HP:0009059,MONDO:MONDO:0006536,MedGen:C0221032,OMIM:PS608594 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPAT2 AGPAT2-related disorder agpat2_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK AGK-related disorder agk_related_disorder MedGen:CN239194 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFP Alpha-fetoprotein deficiency medgen_c1863081_omim_615969_orphanet_168612 MedGen:C1863081,OMIM:615969,Orphanet:168612 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2B AFG2B-related disorder afg2b_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2A AFG2A-related disorder afg2a_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL Progressive neurologic deterioration human_phenotype_ontology_hp_0002344_medgen_c1854838 Human_Phenotype_Ontology:HP:0002344,MedGen:C1854838 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL Inability to walk human_phenotype_ontology_hp_0002540_medgen_c0560046 Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL Generalized myoclonic seizure human_phenotype_ontology_hp_0002123_human_phenotype_ontology_hp_0006869_human_phenotype_ontology_hp_0006902_human_phenotype_ontology_hp_0007075_human_phenotype_ontology_hp_0007202_human_phenotype_ontology_hp_0007284_human_phenotype_ontology_hp_0007294_medgen_c4021759 Human_Phenotype_Ontology:HP:0002123,Human_Phenotype_Ontology:HP:0006869,Human_Phenotype_Ontology:HP:0006902,Human_Phenotype_Ontology:HP:0007075,Human_Phenotype_Ontology:HP:0007202,Human_Phenotype_Ontology:HP:0007284,Human_Phenotype_Ontology:HP:0007294,MedGen:C4021759 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL Difficulty standing human_phenotype_ontology_hp_0003698_medgen_c0241237 Human_Phenotype_Ontology:HP:0003698,MedGen:C0241237 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADK condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADIPOQ Adiponectin deficiency medgen_c2675517_omim_612556 MedGen:C2675517,OMIM:612556 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRL1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRB3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY5 ADCY5-related disorder adcy5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAT3 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAR ADAR-related disorder adar_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL4 Isolated ectopia lentis mondo_mondo_0015998_medgen_c1851286_orphanet_1885 MONDO:MONDO:0015998,MedGen:C1851286,Orphanet:1885 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS19 ADAMTS19-related disorder adamts19_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS18 ADAMTS18-related disorder adamts18_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA2 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA SCID due to ADA deficiency, delayed onset scid_due_to_ada_deficiency_delayed_onset MedGen:CN042911 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACY1 ACY1-related disorder acy1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVR2B Heterotaxy, visceral, 4, autosomal mondo_mondo_0013403_medgen_c3151057_omim_613751_orphanet_450 MONDO:MONDO:0013403,MedGen:C3151057,OMIM:613751,Orphanet:450 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVR1B Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN4 ACTN4-related disorder actn4_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Myopathy, congenital, with structured cores and z-line abnormalities mondo_mondo_0032852_medgen_c5231445_omim_618654 MONDO:MONDO:0032852,MedGen:C5231445,OMIM:618654 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN1 ACTN1-related disorder actn1_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B ACTL6B-related BAFopathy actl6b_related_bafopathy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Visceral neuropathy, familial, 3, autosomal dominant mondo_mondo_0012317_medgen_c1864996_omim_609629_orphanet_2978 MONDO:MONDO:0012317,MedGen:C1864996,OMIM:609629,Orphanet:2978 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Megacystis human_phenotype_ontology_hp_0000021_human_phenotype_ontology_hp_0002838_medgen_c1855311 Human_Phenotype_Ontology:HP:0000021,Human_Phenotype_Ontology:HP:0002838,MedGen:C1855311 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Congenital myopathy 4A, autosomal dominant mondo_mondo_0800341_medgen_cn178536_omim_255310 MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSF3 ACSF3-related disorder acsf3_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACP5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACP5 ACP5-related disorder acp5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACP4 condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACKR1 DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE duffy_blood_group_system_fy_a_b_phenotype . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACBD6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Spondyloepiphyseal dysplasia human_phenotype_ontology_hp_0002655_human_phenotype_ontology_hp_0002776_human_phenotype_ontology_hp_0005893_mondo_mondo_0016761_medgen_c0038015_orphanet_253 Human_Phenotype_Ontology:HP:0002655,Human_Phenotype_Ontology:HP:0002776,Human_Phenotype_Ontology:HP:0005893,MONDO:MONDO:0016761,MedGen:C0038015,Orphanet:253 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Abnormal circulating enzyme concentration human_phenotype_ontology_hp_0011021_medgen_c4023591 Human_Phenotype_Ontology:HP:0011021,MedGen:C4023591 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADM Epileptic spasm human_phenotype_ontology_hp_0011097_medgen_c1527366 Human_Phenotype_Ontology:HP:0011097,MedGen:C1527366 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD9 ACAD9-related disorder acad9_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD8 ACAD8-related disorder acad8_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACACA Acetyl-CoA: carboxylase deficiency mondo_mondo_0013493_medgen_c0268603_omim_613933 MONDO:MONDO:0013493,MedGen:C0268603,OMIM:613933 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Lip and oral cavity carcinoma mondo_mondo_0023644_medgen_c0220641 MONDO:MONDO:0023644,MedGen:C0220641 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Abnormal skeletal morphology human_phenotype_ontology_hp_0011842_medgen_c4023165 Human_Phenotype_Ontology:HP:0011842,MedGen:C4023165 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD16A Complex hereditary spastic paraplegia mondo_mondo_0015150_medgen_c0393556_orphanet_102013 MONDO:MONDO:0015150,MedGen:C0393556,Orphanet:102013 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG8 Early-onset coronary artery disease medgen_c4229399 MedGen:C4229399 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 Sitosterolemia 1 mondo_mondo_0020747_medgen_c2749759_omim_210250 MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 ABCG5-related disorder abcg5_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 X-linked spondyloepimetaphyseal dysplasia mondo_mondo_0010248_medgen_c1848097_omim_300106_orphanet_93349 MONDO:MONDO:0010248,MedGen:C1848097,OMIM:300106,Orphanet:93349 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Primary adrenocortical insufficiency mondo_mondo_0015129_medgen_c0001403_omim_240200_orphanet_101959 MONDO:MONDO:0015129,MedGen:C0001403,OMIM:240200,Orphanet:101959 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Intellectual disability and myopathy syndrome mondo_mondo_0859224_medgen_c5676904_omim_619719 MONDO:MONDO:0859224,MedGen:C5676904,OMIM:619719 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Maturity-onset diabetes of the young, type 12 mondo_mondo_0978299_medgen_c6012723_omim_621196 MONDO:MONDO:0978299,MedGen:C6012723,OMIM:621196 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Pseudoxanthoma elasticum mondo_mondo_0024308_medgen_c0033847 MONDO:MONDO:0024308,MedGen:C0033847 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB6 Familial pseudohyperkalemia mondo_mondo_0012204_medgen_c1836705_omim_609153_orphanet_90044 MONDO:MONDO:0012204,MedGen:C1836705,OMIM:609153,Orphanet:90044 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Familial intrahepatic cholestasis type 3 familial_intrahepatic_cholestasis_type_3 . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB1 Encephalopathy, acute transient mondo_mondo_0975801_medgen_c5975397_omim_620950 MONDO:MONDO:0975801,MedGen:C5975397,OMIM:620950 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Retinal dystrophy, early-onset severe medgen_c1858080 MedGen:C1858080 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Retinal atrophy human_phenotype_ontology_hp_0001105_medgen_c0521694 Human_Phenotype_Ontology:HP:0001105,MedGen:C0521694 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Progressive cone dystrophy (without rod involvement) medgen_c0271092 MedGen:C0271092 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO macular_degeneration_age_related_2_susceptibility_to . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Central scotoma human_phenotype_ontology_hp_0000603_medgen_c0152191 Human_Phenotype_Ontology:HP:0000603,MedGen:C0152191 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Benign concentric annular macular dystrophy mondo_mondo_0007934_medgen_c5561925_omim_153870_orphanet_251287 MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870,Orphanet:251287 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 Diffuse interstitial pulmonary fibrosis medgen_c4721507 MedGen:C4721507 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA13 Intellectual disability without epilepsy intellectual_disability_without_epilepsy . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA12 ABCA12-related disorder abca12_related_disorder . 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABAT condition not provided condition_not_provided MedGen:C3661900 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 Pulmonary hypoplasia human_phenotype_ontology_hp_0002089_mondo_mondo_0800133_medgen_c0265783 Human_Phenotype_Ontology:HP:0002089,MONDO:MONDO:0800133,MedGen:C0265783 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Leukoencephalopathy, hereditary diffuse, with spheroids 2 mondo_mondo_0030634_medgen_c5562044_omim_619661 MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Achalasia-alacrima syndrome mondo_mondo_0800195_medgen_cn322649 MONDO:MONDO:0800195,MedGen:CN322649 2 2 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZYG11B Craniofacial microsomia 1 mondo_mondo_0958175_medgen_c3495417_omim_164210_orphanet_374 MONDO:MONDO:0958175,MedGen:C3495417,OMIM:164210,Orphanet:374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZUP1 Primary ciliary dyskinesia 11 mondo_mondo_0012978_medgen_c2675229_omim_612649_orphanet_244 MONDO:MONDO:0012978,MedGen:C2675229,OMIM:612649,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM7 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM7 Infertility disorder human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM6 ZSWIM6-related disorder zswim6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM6 ZSWIM6 related intellectual disability zswim6_related_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZSWIM6 Acromelic frontonasal dysostosis mondo_mondo_0011359_medgen_c1863616_omim_603671_orphanet_1827 MONDO:MONDO:0011359,MedGen:C1863616,OMIM:603671,Orphanet:1827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZRSR2 ZRSR2-related disorder zrsr2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZRSR2 Severe hydrocephalus human_phenotype_ontology_hp_0006882_medgen_c3278123 Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZRSR2 Median cleft lip and palate human_phenotype_ontology_hp_0008501_human_phenotype_ontology_hp_0009089_medgen_c2750604 Human_Phenotype_Ontology:HP:0008501,Human_Phenotype_Ontology:HP:0009089,MedGen:C2750604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZRSR2 Holoprosencephaly sequence human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZRSR2 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZPR1 Hypertriglyceridemia 1 mondo_mondo_0007788_medgen_c5444012_omim_145750 MONDO:MONDO:0007788,MedGen:C5444012,OMIM:145750 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZPR1 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies mondo_mondo_0859146_medgen_c5543375_omim_619321 MONDO:MONDO:0859146,MedGen:C5543375,OMIM:619321 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZPBP Spermatogenic failure 66 mondo_mondo_0030716_medgen_c5676945_omim_619799 MONDO:MONDO:0030716,MedGen:C5676945,OMIM:619799 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP3 Empty ovarian follicle human_phenotype_ontology_hp_0031067_medgen_c4476946 Human_Phenotype_Ontology:HP:0031067,MedGen:C4476946 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP3 Empty follicle syndrome medgen_c1328577 MedGen:C1328577 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP2 Developmental and epileptic encephalopathy, 4 mondo_mondo_0012812_medgen_c2677326_omim_612164_orphanet_1934_orphanet_33069_orphanet_599373 MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164,Orphanet:1934,Orphanet:33069,Orphanet:599373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZP1 Oocyte maturation defect 3 mondo_mondo_0021574_medgen_c4540205_omim_617712 MONDO:MONDO:0021574,MedGen:C4540205,OMIM:617712 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNFX1 ZNFX1-related disorder znfx1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF862 Gingival fibromatosis human_phenotype_ontology_hp_0000169_medgen_c0016049 Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF862 Fibromatosis, gingival, 6 mondo_mondo_0975841_medgen_c5975501_omim_620999 MONDO:MONDO:0975841,MedGen:C5975501,OMIM:620999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF808 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF808 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy mondo_mondo_0060640_medgen_c4693390_omim_617862 MONDO:MONDO:0060640,MedGen:C4693390,OMIM:617862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF766 Hypercalcemia, infantile, 1 mondo_mondo_0020739_medgen_cn031131_omim_143880_orphanet_300547 MONDO:MONDO:0020739,MedGen:CN031131,OMIM:143880,Orphanet:300547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF750 Seborrhea-like dermatitis with psoriasiform elements mondo_mondo_0012446_medgen_c1853258_omim_610227_orphanet_168606 MONDO:MONDO:0012446,MedGen:C1853258,OMIM:610227,Orphanet:168606 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF717 Susceptibility to severe coronavirus disease (COVID-19) susceptibility_to_severe_coronavirus_disease_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF711 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF699 ZNF699-related disorder znf699_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF687 Paget disease of bone 6 mondo_mondo_0014792_medgen_c4085250_omim_616833 MONDO:MONDO:0014792,MedGen:C4085250,OMIM:616833 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF668 Severe short-limb dwarfism human_phenotype_ontology_hp_0008890_medgen_c1860105 Human_Phenotype_Ontology:HP:0008890,MedGen:C1860105 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF668 Neurodevelopmental disorder with poor growth neurodevelopmental_disorder_with_poor_growth . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF564 Deficiency of alpha-mannosidase mondo_mondo_0009561_medgen_c0024748_omim_248500_orphanet_61 MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500,Orphanet:61 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF526 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF526 Pulmonic stenosis human_phenotype_ontology_hp_0001642_mondo_mondo_0009938_medgen_c1956257_omim_265500_orphanet_3189 Human_Phenotype_Ontology:HP:0001642,MONDO:MONDO:0009938,MedGen:C1956257,OMIM:265500,Orphanet:3189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF526 Noonan-like facies noonan_like_facies MedGen:CN228297 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF526 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF513 Retinitis pigmentosa 58 mondo_mondo_0013328_medgen_c3150879_omim_613617_orphanet_791 MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF513 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF496 Neurodevelopmental disorders neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF469 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF462 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF454 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF454 GRM6-related disorder grm6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF454 Congenital stationary night blindness 1C mondo_mondo_0013183_medgen_c2750747_omim_613216_orphanet_215 MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF446 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF423 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF423 ZNF423-related disorder znf423_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF423 Nephronophthisis 14 mondo_mondo_0013916_medgen_c3539071_omim_614844_orphanet_2318 MONDO:MONDO:0013916,MedGen:C3539071,OMIM:614844,Orphanet:2318 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF418 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF408 Familial exudative vitreoretinopathy mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF408 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF407 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF341 Hyper-IgE recurrent infection syndrome 1, autosomal dominant mondo_mondo_0007818_medgen_c2936739_omim_147060_orphanet_2314 MONDO:MONDO:0007818,MedGen:C2936739,OMIM:147060,Orphanet:2314 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF335 ZNF335-related disorder znf335_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 ZNF292-related neurodevelopmental condition znf292_related_neurodevelopmental_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF276 Neuroblastoma human_phenotype_ontology_hp_0003006_human_phenotype_ontology_hp_0006738_mondo_mondo_0005072_mesh_d009447_medgen_c0027819_orphanet_635 Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF148 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF142 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF142 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF141 Polydactyly, postaxial, type A6 mondo_mondo_0014090_medgen_c3808889_omim_615226 MONDO:MONDO:0014090,MedGen:C3808889,OMIM:615226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND8 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND8 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND15 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND11 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND11 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND11 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND10 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM3 Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM3 Hyporeflexia human_phenotype_ontology_hp_0001265_human_phenotype_ontology_hp_0002467_medgen_c0700078 Human_Phenotype_Ontology:HP:0001265,Human_Phenotype_Ontology:HP:0002467,MedGen:C0700078 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM3 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMPSTE24 Autosomal recessive ZMPSTE24-related disorders autosomal_recessive_zmpste24_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMIZ1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMIZ1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC3 Congenital heart defects, multiple types, 1, X-linked mondo_mondo_0800321_medgen_c3151867 MONDO:MONDO:0800321,MedGen:C3151867 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC2 ZIC2-related disorder zic2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC2 Holoprosencephaly sequence human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 ZFYVE26-related disorder zfyve26_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Retinitis pigmentosa 53 mondo_mondo_0800348_medgen_c3150208 MONDO:MONDO:0800348,MedGen:C3150208 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE19 ZFYVE19-related disorder zfyve19_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE16 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFP57 ZFP57-related disorder zfp57_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFP30 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX4 ZFHX4-associated neurodevelopmental disorder zfhx4_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX4 Autosomal dominant ZFHX4-related disorders autosomal_dominant_zfhx4_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 ZFHX3-associated neurodevelopmental disorder zfhx3_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 ZFHX3-associated disorder zfhx3_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZFHX2 Indifference to pain, congenital, autosomal dominant medgen_c4538468_omim_147430 MedGen:C4538468,OMIM:147430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Smith-Magenis Syndrome-like smith_magenis_syndrome_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Megacolon human_phenotype_ontology_hp_6000852_mondo_mondo_0001273_medgen_c0025160 Human_Phenotype_Ontology:HP:6000852,MONDO:MONDO:0001273,MedGen:C0025160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 Visual loss human_phenotype_ontology_hp_0000572_medgen_c3665386 Human_Phenotype_Ontology:HP:0000572,MedGen:C3665386 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 Posterior polymorphous corneal dystrophy 1 gene_8197_mondo_mondo_0007378_medgen_c1852555_omim_122000_orphanet_98973 Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000,Orphanet:98973 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB1 Glaucoma human_phenotype_ontology_hp_0000501_mondo_mondo_0005041_medgen_c0017601 Human_Phenotype_Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 Severe early-childhood-onset retinal dystrophy mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC16 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC15 Spastic diplegia human_phenotype_ontology_hp_0001264_medgen_c0023882 Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZCCHC8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZCCHC8 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 mondo_mondo_0032865_medgen_c5231457_omim_618674 MONDO:MONDO:0032865,MedGen:C5231457,OMIM:618674 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZCCHC8 Inherited aplastic anemia mondo_mondo_0001713_medgen_c5681331_orphanet_68383 MONDO:MONDO:0001713,MedGen:C5681331,Orphanet:68383 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZCCHC8 Inherited acute myeloid leukemia mondo_mondo_0017893_medgen_c4707228_orphanet_319465 MONDO:MONDO:0017893,MedGen:C4707228,Orphanet:319465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZCCHC8 Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZC4H2 ZC4H2-related disorder zc4h2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZC4H2 ZC4H2-related X-linked intellectual disability zc4h2_related_x_linked_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZC4H2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB7A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB47 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB25 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia mondo_mondo_0060611_medgen_c4540434_omim_617780_orphanet_658813 MONDO:MONDO:0060611,MedGen:C4540434,OMIM:617780,Orphanet:658813 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 SHORT syndrome mondo_mondo_0010026_medgen_c0878684_omim_269880_orphanet_3163 MONDO:MONDO:0010026,MedGen:C0878684,OMIM:269880,Orphanet:3163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Moderate global developmental delay human_phenotype_ontology_hp_0011343_medgen_c2237142 Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Clinodactyly of the 5th finger human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Clinodactyly of the 4th toe human_phenotype_ontology_hp_0011918_medgen_c4020740 Human_Phenotype_Ontology:HP:0011918,MedGen:C4020740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 ZBTB18-related intellectual disability zbtb18_related_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 ZBTB18-related disorder zbtb18_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBED4 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZAR1L Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZAR1L Breast-ovarian cancer, familial, susceptibility to, 2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZAP70 ZAP70-related disorder zap70_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1AP1 YY1AP1-related disorder yy1ap1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1 Developmental and epileptic encephalopathy, 78 mondo_mondo_0032812_medgen_c5231409_omim_618557 MONDO:MONDO:0032812,MedGen:C5231409,OMIM:618557 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAZ condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAZ Cardiofaciocutaneous spectrum disorder cardiofaciocutaneous_spectrum_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Constipation human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAG Bilateral tonic-clonic seizure human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YWHAE YWHAE-associated disorder ywhae_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YRDC condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YPEL3 YPEL3-related condition ypel3_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YME1L1 Optic atrophy 11 mondo_mondo_0015011_medgen_c4310628_omim_617302 MONDO:MONDO:0015011,MedGen:C4310628,OMIM:617302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YME1L1 3-Methylglutaconic aciduria human_phenotype_ontology_hp_0003535_mondo_mondo_0017359_medgen_c3696376_omim_ps250950_orphanet_289902 Human_Phenotype_Ontology:HP:0003535,MONDO:MONDO:0017359,MedGen:C3696376,OMIM:PS250950,Orphanet:289902 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YIF1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 recessive ARS-related multisystem disease recessive_ars_related_multisystem_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Severe hearing impairment human_phenotype_ontology_hp_0012714_medgen_c3874334 Human_Phenotype_Ontology:HP:0012714,MedGen:C3874334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Retinal degeneration human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Primary amenorrhea human_phenotype_ontology_hp_0000786_mondo_mondo_1060208_medgen_c0232939 Human_Phenotype_Ontology:HP:0000786,MONDO:MONDO:1060208,MedGen:C0232939 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Hepatic steatosis human_phenotype_ontology_hp_0001397_human_phenotype_ontology_hp_0002252_human_phenotype_ontology_hp_0200121_mondo_mondo_0004790_medgen_c2711227 Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YARS1 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YAP1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence YAP1 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XYLT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC4 Ateleiotic dwarfism mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC2 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XRCC1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPNPEP3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC Xeroderma pigmentosum group A mondo_mondo_0010210_medgen_c0268135_omim_278700_orphanet_910 MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700,Orphanet:910 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_omim_ps278700_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,OMIM:PS278700,Orphanet:910 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPA XPA-related disorder xpa_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XKR7 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XK XK-related disorder xk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XK Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIST condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIST X inactivation, familial skewed, 1 mondo_mondo_0026404_medgen_c1848138_omim_300087 MONDO:MONDO:0026404,MedGen:C1848138,OMIM:300087 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP X-linked sideroblastic anemia 1 mondo_mondo_0020721_medgen_c4551511_omim_300751_orphanet_75563 MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP Sepsis human_phenotype_ontology_hp_0100806_medgen_c0036690 Human_Phenotype_Ontology:HP:0100806,MedGen:C0036690 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP Recurrent infections human_phenotype_ontology_hp_0002719_human_phenotype_ontology_hp_0002957_human_phenotype_ontology_hp_0002964_human_phenotype_ontology_hp_0005405_medgen_c0239998 Human_Phenotype_Ontology:HP:0002719,Human_Phenotype_Ontology:HP:0002957,Human_Phenotype_Ontology:HP:0002964,Human_Phenotype_Ontology:HP:0005405,MedGen:C0239998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP Lymphoproliferative syndrome 2 mondo_mondo_0014054_medgen_c3554540_omim_615122_orphanet_238505 MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XDH condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWP2 Spondyloepiphyseal dysplasia, nishimura type mondo_mondo_0032835_medgen_c4305147_omim_618618 MONDO:MONDO:0032835,MedGen:C4305147,OMIM:618618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWP2 Spondyloepiphyseal dysplasia MIR140 type Nishimura spondyloepiphyseal_dysplasia_mir140_type_nishimura . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX WWOX-related diosrder wwox_related_diosrder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Neurodevelopmental disorders neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Esophageal squamous cell carcinoma mondo_mondo_0005580_mesh_d000077277_medgen_c0279626_orphanet_99977 MONDO:MONDO:0005580,MeSH:D000077277,MedGen:C0279626,Orphanet:99977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Brain atrophy human_phenotype_ontology_hp_0012444_medgen_c4551584 Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Nephroblastoma human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Mesothelioma mondo_mondo_0005065_medgen_c0025500 MONDO:MONDO:0005065,MedGen:C0025500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WSB2 LUO-AGRAWAL NEURODEVELOPMENTAL SYNDROME luo_agrawal_neurodevelopmental_syndrome MedGen:CN381043,OMIM:621552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Progressive pulmonary failure medgen_c4013572 MedGen:C4013572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Mask-like facies human_phenotype_ontology_hp_0000298_medgen_c0424448 Human_Phenotype_Ontology:HP:0000298,MedGen:C0424448 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Decreased body weight human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Convex nasal ridge human_phenotype_ontology_hp_0000444_human_phenotype_ontology_hp_0003683_medgen_c0240538 Human_Phenotype_Ontology:HP:0000444,Human_Phenotype_Ontology:HP:0003683,MedGen:C0240538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRAP53 Li-Fraumeni syndrome mondo_mondo_0018875_medgen_c0085390_omim_ps151623_orphanet_524 MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WRAP53 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT9B Renal hypoplasia human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT9B Renal dysplasia human_phenotype_ontology_hp_0000110_human_phenotype_ontology_hp_0000116_human_phenotype_ontology_hp_0004721_mondo_mondo_0019638_medgen_c3536714_orphanet_93108 Human_Phenotype_Ontology:HP:0000110,Human_Phenotype_Ontology:HP:0000116,Human_Phenotype_Ontology:HP:0004721,MONDO:MONDO:0019638,MedGen:C3536714,Orphanet:93108 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT9B Cystic renal dysplasia human_phenotype_ontology_hp_0000800_human_phenotype_ontology_hp_0008737_medgen_c1834931 Human_Phenotype_Ontology:HP:0000800,Human_Phenotype_Ontology:HP:0008737,MedGen:C1834931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT7B condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT7B Anophthalmia-microphthalmia syndrome medgen_c5680330_orphanet_98555 MedGen:C5680330,Orphanet:98555 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT7A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT7A Santos syndrome mondo_mondo_0013077_medgen_c2751698_omim_613005 MONDO:MONDO:0013077,MedGen:C2751698,OMIM:613005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT5A WNT5A-related disorder wnt5a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT5A Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome mondo_mondo_0030036_medgen_c5394371_omim_618878 MONDO:MONDO:0030036,MedGen:C5394371,OMIM:618878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT3 Tetraamelia syndrome 1 mondo_mondo_0060764_medgen_c4012268_omim_273395_orphanet_3301 MONDO:MONDO:0060764,MedGen:C4012268,OMIM:273395,Orphanet:3301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT3 Bladder exstrophy-epispadias-cloacal extrophy complex mondo_mondo_0700039_medgen_c1838703_omim_600057_orphanet_93930 MONDO:MONDO:0700039,MedGen:C1838703,OMIM:600057,Orphanet:93930 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT2B Impaired feeding ability human_phenotype_ontology_hp_0031063_medgen_c4476942 Human_Phenotype_Ontology:HP:0031063,MedGen:C4476942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT2B Failure to thrive in infancy human_phenotype_ontology_hp_0001531_human_phenotype_ontology_hp_0008863_human_phenotype_ontology_hp_0008925_medgen_c1867873 Human_Phenotype_Ontology:HP:0001531,Human_Phenotype_Ontology:HP:0008863,Human_Phenotype_Ontology:HP:0008925,MedGen:C1867873 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT2B Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT2B Diarrhea 9 mondo_mondo_0032575_medgen_c4748517_omim_618168 MONDO:MONDO:0032575,MedGen:C4748517,OMIM:618168 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT2B Diarrhea human_phenotype_ontology_hp_0002014_medgen_c0011991 Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT2B Chronic diarrhea human_phenotype_ontology_hp_0002028_mondo_mondo_0044751_medgen_c0401151 Human_Phenotype_Ontology:HP:0002028,MONDO:MONDO:0044751,MedGen:C0401151 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10B WNT10B-related disorder wnt10b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT1 WNT1-related disorder wnt1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT1 Keratoconus human_phenotype_ontology_hp_0000563_mondo_mondo_0015486_mesh_d007640_medgen_c0022578_omim_ps148300 Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK4 WNK4-related disorder wnk4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK4 Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Subglottic stenosis human_phenotype_ontology_hp_0001607_medgen_c0238441 Human_Phenotype_Ontology:HP:0001607,MedGen:C0238441 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Sleep apnea human_phenotype_ontology_hp_0010535_mondo_mondo_0005296_medgen_c0037315 Human_Phenotype_Ontology:HP:0010535,MONDO:MONDO:0005296,MedGen:C0037315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Retrognathia human_phenotype_ontology_hp_0000278_human_phenotype_ontology_hp_0002053_human_phenotype_ontology_hp_0002954_medgen_c0035353 Human_Phenotype_Ontology:HP:0000278,Human_Phenotype_Ontology:HP:0002053,Human_Phenotype_Ontology:HP:0002954,MedGen:C0035353 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Motor stereotypies human_phenotype_ontology_hp_0000733_human_phenotype_ontology_hp_0008758_human_phenotype_ontology_hp_0008759_medgen_c0038271_orphanet_306765 Human_Phenotype_Ontology:HP:0000733,Human_Phenotype_Ontology:HP:0008758,Human_Phenotype_Ontology:HP:0008759,MedGen:C0038271,Orphanet:306765 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Congenital laryngomalacia human_phenotype_ontology_hp_0001601_mondo_mondo_0007878_medgen_c0264303_omim_150280_orphanet_2373 Human_Phenotype_Ontology:HP:0001601,MONDO:MONDO:0007878,MedGen:C0264303,OMIM:150280,Orphanet:2373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK3 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK1 Hereditary neuropathy or pain disorder hereditary_neuropathy_or_pain_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WHRN Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WHRN Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 WFS1-spectrum disorder wfs1_spectrum_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Meniere disease mondo_mondo_0007972_medgen_c0025281_omim_156000 MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Early-onset non-syndromic cataract human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WFDC2 Bronchiectasis and nasal polyposis mondo_mondo_0975835_medgen_c5975469_omim_620984 MONDO:MONDO:0975835,MedGen:C5975469,OMIM:620984 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WEE2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WEE2 WEE2-related disorder wee2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDTC1 WDTC1-related disorder wdtc1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR93 Autistic spectrum disorder with isolated skills medgen_c1298684 MedGen:C1298684 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR91 Neurodevelopmental disorder with brain malformations and multiple congenital anomalies neurodevelopmental_disorder_with_brain_malformations_and_multiple_congenital_anomalies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR83OS condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR83 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Severe cerebellar hypoplasia severe_cerebellar_hypoplasia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Severe brain malformation severe_brain_malformation . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Neonatal death human_phenotype_ontology_hp_0003811_human_phenotype_ontology_hp_0003820_human_phenotype_ontology_hp_0003824_medgen_c0410916 Human_Phenotype_Ontology:HP:0003811,Human_Phenotype_Ontology:HP:0003820,Human_Phenotype_Ontology:HP:0003824,MedGen:C0410916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Microlissencephaly human_phenotype_ontology_hp_0045028_mondo_mondo_0015204_medgen_c1956147_orphanet_1083 Human_Phenotype_Ontology:HP:0045028,MONDO:MONDO:0015204,MedGen:C1956147,Orphanet:1083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Hydranencephaly human_phenotype_ontology_hp_0002324_mondo_mondo_0016344_medgen_c0020225_orphanet_2177 Human_Phenotype_Ontology:HP:0002324,MONDO:MONDO:0016344,MedGen:C0020225,Orphanet:2177 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR81 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR74 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR74 RNU2-2P-related neurodevelopmental disorder rnu2_2p_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR74 Neurodevelopmental disorder with seizures and brain abnormalities mondo_mondo_0859188_medgen_c5561979_omim_619517 MONDO:MONDO:0859188,MedGen:C5561979,OMIM:619517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR74 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR73 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR73 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR73 Dyskinesia human_phenotype_ontology_hp_0100660_medgen_c0013384 Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR73 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 WDR72-related disorder wdr72_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 Hypophosphatemic rickets human_phenotype_ontology_hp_0004912_mondo_mondo_0024300_mesh_d063730_medgen_c1704375 Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Skraban-Deardorff syndrome mondo_mondo_0054636_medgen_c4539927_omim_617616_orphanet_513456 MONDO:MONDO:0054636,MedGen:C4539927,OMIM:617616,Orphanet:513456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Primary microcephaly type 2 primary_microcephaly_type_2 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Abnormality of neuronal migration human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR5 WDR5-related neurodevelopmental delay wdr5_related_neurodevelopmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR47 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR47 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Oculocutaneous albinism type 7 mondo_mondo_0014070_medgen_c3808786_omim_615179_orphanet_352745 MONDO:MONDO:0014070,MedGen:C3808786,OMIM:615179,Orphanet:352745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Neurodegeneration with brain iron accumulation mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Basal ganglia calcification human_phenotype_ontology_hp_0002135_human_phenotype_ontology_hp_0002485_medgen_c1389280 Human_Phenotype_Ontology:HP:0002135,Human_Phenotype_Ontology:HP:0002485,MedGen:C1389280 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR44 WDR44-related ciliopathy wdr44_related_ciliopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR44 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR4 Galloway-Mowat syndrome mondo_mondo_0009627_medgen_c0795949_omim_ps251300_orphanet_2065 MONDO:MONDO:0009627,MedGen:C0795949,OMIM:PS251300,Orphanet:2065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 WDR37-related disorder wdr37_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR37 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY short_rib_thoracic_dysplasia_7_without_polydactyly . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 Ellis-van Creveld syndrome mondo_mondo_0009162_medgen_c0013903_omim_225500_orphanet_289 MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 Cranioectodermal dysplasia mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR26 WDR26-related disorder wdr26_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR26 Intellectual disability, seizures, abnormal gait and distinctive facial features intellectual_disability_seizures_abnormal_gait_and_distinctive_facial_features . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR11 Hypogonadotropic hypogonadism 14 with anosmia medgen_c4016965 MedGen:C4016965 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR1 Intellectual developmental disorder 61 mondo_mondo_0032485_medgen_c5231400_omim_618009 MONDO:MONDO:0032485,MedGen:C5231400,OMIM:618009 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDPCP Orofaciodigital syndrome mondo_mondo_0015375_medgen_c0029294_omim_ps311200_orphanet_140997 MONDO:MONDO:0015375,MedGen:C0029294,OMIM:PS311200,Orphanet:140997 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDPCP Developmental and epileptic encephalopathy, 88 mondo_mondo_0030072_medgen_c5394553_omim_618959 MONDO:MONDO:0030072,MedGen:C5394553,OMIM:618959 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 WDFY3-related disorder wdfy3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Macrocephaly-autism syndrome mondo_mondo_0011537_medgen_c1854416_omim_605309_orphanet_210548 MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:210548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Intellectual disability, autosomal dominant 1 mondo_mondo_0007974_medgen_c1969562_omim_156200_orphanet_228402 MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WBP4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WBP4 Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities mondo_mondo_0971043_medgen_c5935629_omim_620852 MONDO:MONDO:0971043,MedGen:C5935629,OMIM:620852 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WBP2 Hearing loss, autosomal recessive 107 mondo_mondo_0033199_medgen_c4539964_omim_617639 MONDO:MONDO:0033199,MedGen:C4539964,OMIM:617639 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC5 Lower limb spasticity human_phenotype_ontology_hp_0002061_medgen_c1271100 Human_Phenotype_Ontology:HP:0002061,MedGen:C1271100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC5 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASF1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS X-Linked Neutropenia x_linked_neutropenia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS WISKOTT-ALDRICH SYNDROME, ATTENUATED medgen_c4016481 MedGen:C4016481 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC WAC-related neurodevelopmental disorder wac_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC WAC-related disorder wac_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC Shwachman syndrome mondo_mondo_0009833_medgen_c0272170_omim_ps260400_orphanet_811 MONDO:MONDO:0009833,MedGen:C0272170,OMIM:PS260400,Orphanet:811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF von Willebrand factor Vicenza von_willebrand_factor_vicenza . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Prolonged bleeding time human_phenotype_ontology_hp_0003010_human_phenotype_ontology_hp_0008294_human_phenotype_ontology_hp_0008337_medgen_c0151529 Human_Phenotype_Ontology:HP:0003010,Human_Phenotype_Ontology:HP:0008294,Human_Phenotype_Ontology:HP:0008337,MedGen:C0151529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWDE Optic atrophy 12 mondo_mondo_0033549_medgen_c5436534_omim_618977 MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWCE Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWA5B2 ALG3-congenital disorder of glycosylation mondo_mondo_0010998_medgen_c1832736_omim_601110_orphanet_79321 MONDO:MONDO:0010998,MedGen:C1832736,OMIM:601110,Orphanet:79321 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VWA2 Vesicoureteral reflux human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VTA1 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 VSX2-related disorder vsx2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 Anophthalmia human_phenotype_ontology_hp_0000528_human_phenotype_ontology_hp_0001485_human_phenotype_ontology_hp_0007664_medgen_c0003119 Human_Phenotype_Ontology:HP:0000528,Human_Phenotype_Ontology:HP:0001485,Human_Phenotype_Ontology:HP:0007664,MedGen:C0003119 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Spinal muscular atrophy human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Pontocerebellar hypoplasia type 1B mondo_mondo_0013853_medgen_c3553449_omim_614678_orphanet_2254 MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678,Orphanet:2254 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Juvenile amyotrophic lateral sclerosis mondo_mondo_0017593_medgen_c3468114_orphanet_300605 MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Congenital pontocerebellar hypoplasia type 1 mondo_mondo_0016396_medgen_c5442006_orphanet_2254 MONDO:MONDO:0016396,MedGen:C5442006,Orphanet:2254 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS53 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS51 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS45 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS45 Severe congenital neutropenia mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS41 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS41 Hyperimmunoglobulin D with periodic fever mondo_mondo_0009849_medgen_c0398691_omim_260920_orphanet_343 MONDO:MONDO:0009849,MedGen:C0398691,OMIM:260920,Orphanet:343 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS37A Hereditary spastic paraplegia 53 mondo_mondo_0013962_medgen_c3539494_omim_614898_orphanet_319199 MONDO:MONDO:0013962,MedGen:C3539494,OMIM:614898,Orphanet:319199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS35 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS35 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS33A Mucopolysaccharidosis-plus syndrome mondo_mondo_0015012_medgen_c4310627_omim_617303_orphanet_505248 MONDO:MONDO:0015012,MedGen:C4310627,OMIM:617303,Orphanet:505248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS26C condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS26C Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS25 VPS25-related neurodevelopmental delay vps25_related_neurodevelopmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS16 VPS16-related disorder vps16_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS16 VPS16-associated disorder vps16_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13D Spinocerebellar atrophy human_phenotype_ontology_hp_0007263_mesh_d020754_medgen_c0087012 Human_Phenotype_Ontology:HP:0007263,MeSH:D020754,MedGen:C0087012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13D Spinocerebellar ataxia type 4 mondo_mondo_0010847_medgen_c0752122_omim_600223_orphanet_98765 MONDO:MONDO:0010847,MedGen:C0752122,OMIM:600223,Orphanet:98765 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13D Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13D Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13D Autosomal recessive cerebellar ataxia mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Unsteady gait human_phenotype_ontology_hp_0002317_medgen_c0231686 Human_Phenotype_Ontology:HP:0002317,MedGen:C0231686 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Myopia 25, autosomal dominant mondo_mondo_0014982_medgen_c4310655_omim_617238 MONDO:MONDO:0014982,MedGen:C4310655,OMIM:617238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B High myopia, early-onset medgen_c5394216 MedGen:C5394216 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Generalized joint hypermobility human_phenotype_ontology_hp_0002761_medgen_c1836308 Human_Phenotype_Ontology:HP:0002761,MedGen:C1836308 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Carious teeth human_phenotype_ontology_hp_0000670_human_phenotype_ontology_hp_0006295_human_phenotype_ontology_hp_0006306_mondo_mondo_0005276_medgen_c0011334 Human_Phenotype_Ontology:HP:0000670,Human_Phenotype_Ontology:HP:0006295,Human_Phenotype_Ontology:HP:0006306,MONDO:MONDO:0005276,MedGen:C0011334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13A primray hypomagnesemia with secondary hypocalcemia primray_hypomagnesemia_with_secondary_hypocalcemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13A Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS11 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS11 Leukoencephalopathy human_phenotype_ontology_hp_0002352_human_phenotype_ontology_hp_0006838_human_phenotype_ontology_hp_0007073_medgen_c0270612 Human_Phenotype_Ontology:HP:0002352,Human_Phenotype_Ontology:HP:0006838,Human_Phenotype_Ontology:HP:0007073,MedGen:C0270612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS11 Dystonia 32 mondo_mondo_0030486_medgen_c5562029_omim_619637 MONDO:MONDO:0030486,MedGen:C5562029,OMIM:619637 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA22 Congenital disorders of glycosylation type II congenital_disorders_of_glycosylation_type_ii MedGen:CN234782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA21 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VMA12 TMEM199-related disorder tmem199_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VLDLR VLDLR-related disorder vldlr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VLDLR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VLDLR Dysequilibrium syndrome mondo_mondo_0009133_medgen_c0394006_omim_ps224050_orphanet_1766 MONDO:MONDO:0009133,MedGen:C0394006,OMIM:PS224050,Orphanet:1766 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VLDLR Cerebellar hypoplasia human_phenotype_ontology_hp_0001321_human_phenotype_ontology_hp_0006806_human_phenotype_ontology_hp_0006910_human_phenotype_ontology_hp_0007038_human_phenotype_ontology_hp_0007053_medgen_c0266470 Human_Phenotype_Ontology:HP:0001321,Human_Phenotype_Ontology:HP:0006806,Human_Phenotype_Ontology:HP:0006910,Human_Phenotype_Ontology:HP:0007038,Human_Phenotype_Ontology:HP:0007053,MedGen:C0266470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VLDLR Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VKORC1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, type 2 mondo_mondo_0011837_medgen_c1843832_omim_607473_orphanet_98434 MONDO:MONDO:0011837,MedGen:C1843832,OMIM:607473,Orphanet:98434 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VKORC1 Hereditary combined deficiency of vitamin K-dependent clotting factors mondo_mondo_0015722_medgen_c4510617_omim_ps277450_orphanet_169826 MONDO:MONDO:0015722,MedGen:C4510617,OMIM:PS277450,Orphanet:169826 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VIPAS39 Arthrogryposis with renal dysfunction and cholestasis syndrome mondo_mondo_0017123_medgen_c4551984_omim_ps208085_orphanet_2697 MONDO:MONDO:0017123,MedGen:C4551984,OMIM:PS208085,Orphanet:2697 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VIM syndrome with premature-aging syndrome_with_premature_aging . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VIM condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VIM Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Tuberous sclerosis 2 mondo_mondo_0013199_medgen_c1860707_omim_613254_orphanet_805 MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Spinal hemangioblastoma human_phenotype_ontology_hp_0009713_medgen_c4024223 Human_Phenotype_Ontology:HP:0009713,MedGen:C4024223 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Skin adenoma skin_adenoma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Retinal capillary hemangioma human_phenotype_ontology_hp_0009711_mondo_mondo_0003343_medgen_c0730303 Human_Phenotype_Ontology:HP:0009711,MONDO:MONDO:0003343,MedGen:C0730303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS medgen_c4017161 MedGen:C4017161 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VHL Familial infantile myasthenia mondo_mondo_0009689_medgen_c0393929_omim_254210_orphanet_590 MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence VEZF1 Cardiomyopathy, dilated, 100 mondo_mondo_0859381_medgen_c5830291_omim_620247 MONDO:MONDO:0859381,MedGen:C5830291,OMIM:620247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VEGFA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VEGFA VEGFA-related disorder vegfa_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VDR Rickets human_phenotype_ontology_hp_0002748_mondo_mondo_0005520_medgen_c0035579 Human_Phenotype_Ontology:HP:0002748,MONDO:MONDO:0005520,MedGen:C0035579 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VDR Chronic obstructive pulmonary disease human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Progressive muscle weakness human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Lewy body dementia mondo_mondo_0007488_medgen_c0752347_omim_127750 MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 inclusion_body_myopathy_without_early_onset_paget_disease_and_frontotemporal_dementia_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES frontotemporal_dementia_without_amyotrophic_lateral_sclerosis_6_with_neurofibrillary_tangles . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Amyotrophic lateral sclerosis type 6 mondo_mondo_0011951_medgen_c2931786_omim_608030_orphanet_275872_orphanet_803 MONDO:MONDO:0011951,MedGen:C2931786,OMIM:608030,Orphanet:275872,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Alzheimer disease human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCL Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCL Hypertrophic cardiomyopathy 15 mondo_mondo_0013200_medgen_c2750459_omim_613255 MONDO:MONDO:0013200,MedGen:C2750459,OMIM:613255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCAN Stickler syndrome mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCAN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAX1 Microphthalmia, syndromic 11 mondo_mondo_0013734_medgen_c3553077_omim_614402 MONDO:MONDO:0013734,MedGen:C3553077,OMIM:614402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAX1 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS2 VARS2-related disorder vars2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS2 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy mondo_mondo_0060621_medgen_c4540493_omim_617802 MONDO:MONDO:0060621,MedGen:C4540493,OMIM:617802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAPB Adult-onset proximal spinal muscular atrophy, autosomal dominant mondo_mondo_0008453_medgen_c1854058_omim_182980_orphanet_209335 MONDO:MONDO:0008453,MedGen:C1854058,OMIM:182980,Orphanet:209335 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAPA Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VANGL1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VANGL1 Sacral defect with anterior meningocele medgen_c1838568_omim_600145 MedGen:C1838568,OMIM:600145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VANGL1 Neural tube defects, susceptibility to mondo_mondo_0020705_medgen_c3891448_omim_182940 MONDO:MONDO:0020705,MedGen:C3891448,OMIM:182940 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP2 Severe neurodevelopmental delay severe_neurodevelopmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP1 VAMP1-related disorder vamp1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence VAMP1 Houge-Janssens syndrome 2 mondo_mondo_0014605_medgen_c4225352_omim_616362_orphanet_457284 MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UTRN Duchenne muscular dystrophy mondo_mondo_0010679_medgen_c0013264_omim_310200_orphanet_98896 MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9Y Spermatogenic failure, Y-linked, 2 mondo_mondo_0010767_medgen_c1839071_omim_415000_orphanet_1646 MONDO:MONDO:0010767,MedGen:C1839071,OMIM:415000,Orphanet:1646 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X Severe intellectual deficiency severe_intellectual_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X Hyperpigmentation of the skin human_phenotype_ontology_hp_0000953_human_phenotype_ontology_hp_0007527_mondo_mondo_0019289_medgen_c0162834_orphanet_79375 Human_Phenotype_Ontology:HP:0000953,Human_Phenotype_Ontology:HP:0007527,MONDO:MONDO:0019289,MedGen:C0162834,Orphanet:79375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP8 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP7 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP7 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP7 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP53 Cholestasis, progressive familial intrahepatic, (PFIC4-like) cholestasis_progressive_familial_intrahepatic_pfic4_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP51 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP50 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP34 Chromosome 2p16.1-p15 deletion syndrome mondo_mondo_0012916_medgen_c2675875_omim_612513_orphanet_261349 MONDO:MONDO:0012916,MedGen:C2675875,OMIM:612513,Orphanet:261349 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP27X condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP27X Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP27X Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP26 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP24 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP21 Variegate porphyria mondo_mondo_0008297_medgen_c0162532_omim_176200_orphanet_79473 MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP14 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP14 Distal arthrogryposis and CNS involvement distal_arthrogryposis_and_cns_involvement . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP11 Dynein arm defect of respiratory motile cilia human_phenotype_ontology_hp_0012255_medgen_c4022990 Human_Phenotype_Ontology:HP:0012255,MedGen:C4022990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP11 Bronchiectasis human_phenotype_ontology_hp_0002110_mondo_mondo_0004822_medgen_c0006267_omim_ps211400 Human_Phenotype_Ontology:HP:0002110,MONDO:MONDO:0004822,MedGen:C0006267,OMIM:PS211400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP11 Absent inner and outer dynein arms human_phenotype_ontology_hp_0012259_medgen_c4022986 Human_Phenotype_Ontology:HP:0012259,MedGen:C4022986 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP11 Abnormal ciliary motility human_phenotype_ontology_hp_0012262_medgen_c4022983 Human_Phenotype_Ontology:HP:0012262,MedGen:C4022983 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP11 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Usher syndrome type 3A mondo_mondo_0010170_medgen_c5779850_omim_276902 MONDO:MONDO:0010170,MedGen:C5779850,OMIM:276902 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Retinal pigment epithelial atrophy human_phenotype_ontology_hp_0007698_human_phenotype_ontology_hp_0007722_human_phenotype_ontology_hp_0008017_medgen_c1840457 Human_Phenotype_Ontology:HP:0007698,Human_Phenotype_Ontology:HP:0007722,Human_Phenotype_Ontology:HP:0008017,MedGen:C1840457 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Pigmentary retinopathy human_phenotype_ontology_hp_0000580_human_phenotype_ontology_hp_0007702_human_phenotype_ontology_hp_0007821_human_phenotype_ontology_hp_0007869_human_phenotype_ontology_hp_0007961_human_phenotype_ontology_hp_0008010_medgen_c4551715 Human_Phenotype_Ontology:HP:0000580,Human_Phenotype_Ontology:HP:0007702,Human_Phenotype_Ontology:HP:0007821,Human_Phenotype_Ontology:HP:0007869,Human_Phenotype_Ontology:HP:0007961,Human_Phenotype_Ontology:HP:0008010,MedGen:C4551715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Cone-rod dystrophy 3 mondo_mondo_0011395_medgen_c1858806_omim_604116_orphanet_1872 MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Blindness human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Abnormal macular morphology human_phenotype_ontology_hp_0001103_medgen_c4520679 Human_Phenotype_Ontology:HP:0001103,MedGen:C4520679 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G USH1G-related disorder ush1g_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USB1 USB1-related disorder usb1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROD UROD-related inherited porphyria mondo_mondo_0100498_medgen_cn315923 MONDO:MONDO:0100498,MedGen:CN315923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRH Mitochondrial complex III deficiency, nuclear type 11 mondo_mondo_0859321_medgen_c5774259_omim_620137 MONDO:MONDO:0859321,MedGen:C5774259,OMIM:620137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRC2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRC1 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCRB Mitochondrial complex III deficiency nuclear type 3 mondo_mondo_0014064_medgen_c3554606_omim_615158 MONDO:MONDO:0014064,MedGen:C3554606,OMIM:615158 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UQCC3 Mitochondrial complex III deficiency nuclear type 9 mondo_mondo_0014496_medgen_c4015253_omim_616111 MONDO:MONDO:0014496,MedGen:C4015253,OMIM:616111 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPK3A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF3B UPF3B-related neurodevelopmental disorder upf3b_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF3B UPF3B-related disorder upf3b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF3B UPF3B-associated intellectual disability upf3b_associated_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF3B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Transposition of the great arteries human_phenotype_ontology_hp_0001669_mondo_mondo_0000153_medgen_c0040761_orphanet_216675 Human_Phenotype_Ontology:HP:0001669,MONDO:MONDO:0000153,MedGen:C0040761,Orphanet:216675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Thin upper lip vermilion human_phenotype_ontology_hp_0000219_human_phenotype_ontology_hp_0200062_human_phenotype_ontology_hp_0200086_medgen_c1865017 Human_Phenotype_Ontology:HP:0000219,Human_Phenotype_Ontology:HP:0200062,Human_Phenotype_Ontology:HP:0200086,MedGen:C1865017 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Right atrial isomerism human_phenotype_ontology_hp_0011536_mondo_mondo_0008832_medgen_c3178806_omim_208530_orphanet_97548 Human_Phenotype_Ontology:HP:0011536,MONDO:MONDO:0008832,MedGen:C3178806,OMIM:208530,Orphanet:97548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 GDF1-related disorder gdf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 GDF1-RELATED DISORDERS gdf1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF1 Congenital heart defects, multiple types, 6 mondo_mondo_0013463_medgen_c3151221_omim_613854_orphanet_860 MONDO:MONDO:0013463,MedGen:C3151221,OMIM:613854,Orphanet:860 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNG condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC93B1 UNC93B1-related disorder unc93b1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC93B1 Type 1 interferonopathy mondo_mondo_0700264_medgen_c5394397_orphanet_477647 MONDO:MONDO:0700264,MedGen:C5394397,Orphanet:477647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC93B1 Immunodeficiency human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC80 Moderate global developmental delay human_phenotype_ontology_hp_0011343_medgen_c2237142 Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC80 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 mondo_mondo_0024567_medgen_c3809454_omim_615419_orphanet_371364_orphanet_700336 MONDO:MONDO:0024567,MedGen:C3809454,OMIM:615419,Orphanet:371364,Orphanet:700336 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies mondo_mondo_0014176_medgen_c4706556_omim_ps615419_orphanet_371364 MONDO:MONDO:0014176,MedGen:C4706556,OMIM:PS615419,Orphanet:371364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC79 UNC79-related neurodevelopmental disorder unc79_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC79 UNC79-related disorder unc79_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC79 UNC79-associated seizure disorder unc79_associated_seizure_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC45B UNC45B-related disorder unc45b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC45B Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC45B Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC45B Cataract 43 mondo_mondo_0014565_medgen_c4225389_omim_616279_orphanet_91492 MONDO:MONDO:0014565,MedGen:C4225389,OMIM:616279,Orphanet:91492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A UNC13A-associated disorder unc13a_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Tremor human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Intellectual developmental disorder with seizures and dysmorphic facies mondo_mondo_0980942_medgen_cn380727_omim_621457 MONDO:MONDO:0980942,MedGen:CN380727,OMIM:621457 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Febrile seizure (within the age range of 3 months to 6 years) human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13A Amyotrophic lateral sclerosis type 1 mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC119 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC119 Cone-rod dystrophy 24 mondo_mondo_0957240_medgen_c5830446_omim_620342 MONDO:MONDO:0957240,MedGen:C5830446,OMIM:620342 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMPS Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMOD Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMOD Kidney failure mondo_mondo_0001106_medgen_c0035078 MONDO:MONDO:0001106,MedGen:C0035078 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMOD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ULK2 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UIMC1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UHMK1 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGP2 Developmental and epileptic encephalopathy, 83 mondo_mondo_0032895_medgen_c5231487_omim_618744 MONDO:MONDO:0032895,MedGen:C5231487,OMIM:618744 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGP2 D-6618 d_6618 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGGT1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGDH West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGDH UGDH-related disorder ugdh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGDH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFSP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFSP2 Developmental dysplasia of the hip human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFSP2 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UFM1 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCN condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCN Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mondo_mondo_0009747_medgen_c1850406_omim_256810_orphanet_255229 MONDO:MONDO:0009747,MedGen:C1850406,OMIM:256810,Orphanet:255229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCN MPV17-related disorder mpv17_related_disorder MedGen:CN239328 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCHL1 UCHL1-related disorder uchl1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCHL1 Parkinson disease 5, autosomal dominant, susceptibility to mondo_mondo_0013340_medgen_c3150899_omim_613643_orphanet_2828 MONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UCHL1 Optic neuropathy human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBTF UBTF E210K Neuroregression Syndrome ubtf_e210k_neuroregression_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBTF Rare syndromic intellectual disability medgen_c5681780_orphanet_102369 MedGen:C5681780,Orphanet:102369 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBTF Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability infantile_or_childhood_onset_neurodegenerative_disease_global_developmental_delay_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBTF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR7 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR2 PRPH2-related disorder prph2_related_disorder MedGen:CN239395 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR2 Multifocal pattern dystrophy simulating fundus flavimaculatus mondo_mondo_0020382_medgen_c4509881_orphanet_99003 MONDO:MONDO:0020382,MedGen:C4509881,Orphanet:99003 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBQLN4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBQLN2 UBQLN2-related disorder ubqln2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBQLN1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBQLN1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBN2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBN1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE4A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE4A UBE4A-related neurodevelopmental disorder ube4a_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE4A UBE4A-related disorder ube4a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE4A Retinitis pigmentosa 11 mondo_mondo_0010828_medgen_c1838601_omim_600138_orphanet_791 MONDO:MONDO:0010828,MedGen:C1838601,OMIM:600138,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE4A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3C condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3C Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities mondo_mondo_0859519_medgen_c5830319_omim_620270 MONDO:MONDO:0859519,MedGen:C5830319,OMIM:620270 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3B Blepharophimosis - intellectual disability syndrome mondo_mondo_0017393_medgen_c5229849_orphanet_293642 MONDO:MONDO:0017393,MedGen:C5229849,Orphanet:293642 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Poor speech human_phenotype_ontology_hp_0002465_medgen_c1848207 Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Expressive language delay human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Abnormal corpus callosum morphology human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE2A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE2A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP2L Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP1L condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP1L Tooth agenesis, selective, 7 mondo_mondo_0014749_medgen_c4225231_omim_616724_orphanet_99798 MONDO:MONDO:0014749,MedGen:C4225231,OMIM:616724,Orphanet:99798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP1L Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA2 Chromosome 19q13.11 deletion syndrome, distal mondo_mondo_0700107_medgen_c4311048_omim_613026 MONDO:MONDO:0700107,MedGen:C4311048,OMIM:613026 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence U2AF2 U2AF2-related neurodevelopmental disorder u2af2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence U2AF2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence U2AF2 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence U2AF1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYRP1 Ocular albinism human_phenotype_ontology_hp_0001107_human_phenotype_ontology_hp_0007745_human_phenotype_ontology_hp_0007837_mondo_mondo_0017304_mesh_d016117_medgen_c0078917_orphanet_284804 Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYRP1 Nonsyndromic Oculocutaneous Albinism nonsyndromic_oculocutaneous_albinism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYRP1 ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF medgen_c1835054 MedGen:C1835054 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Temperature-sensitive oculocutaneous albinism type 1 mondo_mondo_0018137_medgen_c1847132_orphanet_352737 MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Iris transillumination defect human_phenotype_ontology_hp_0012805_medgen_c1096099 Human_Phenotype_Ontology:HP:0012805,MedGen:C1096099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Hypopigmentation of hair human_phenotype_ontology_hp_0005599_medgen_c3278401 Human_Phenotype_Ontology:HP:0005599,MedGen:C3278401 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Fair hair human_phenotype_ontology_hp_0002214_human_phenotype_ontology_hp_0002286_human_phenotype_ontology_hp_0002294_medgen_c1849221 Human_Phenotype_Ontology:HP:0002214,Human_Phenotype_Ontology:HP:0002286,Human_Phenotype_Ontology:HP:0002294,MedGen:C1849221 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Abnormal retinal morphology human_phenotype_ontology_hp_0000479_human_phenotype_ontology_hp_0007901_human_phenotype_ontology_hp_0007938_medgen_c0035300 Human_Phenotype_Ontology:HP:0000479,Human_Phenotype_Ontology:HP:0007901,Human_Phenotype_Ontology:HP:0007938,MedGen:C0035300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Abnormal optic nerve morphology human_phenotype_ontology_hp_0000587_medgen_c0029131 Human_Phenotype_Ontology:HP:0000587,MedGen:C0029131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TXN2 Combined oxidative phosphorylation deficiency 29 mondo_mondo_0014781_medgen_c5567607_omim_616811_orphanet_478029 MONDO:MONDO:0014781,MedGen:C5567607,OMIM:616811,Orphanet:478029 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Third degree atrioventricular block human_phenotype_ontology_hp_0001709_mondo_mondo_0000468_medgen_c0151517 Human_Phenotype_Ontology:HP:0001709,MONDO:MONDO:0000468,MedGen:C0151517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK TWNK-related disorder twnk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic medgen_c1868097 MedGen:C1868097 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 mondo_mondo_0024528_medgen_c1834846_omim_157640 MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Progressive external ophthalmoplegia human_phenotype_ontology_hp_0000562_human_phenotype_ontology_hp_0000590_mondo_mondo_0005181_mesh_d017246_medgen_c0162674_orphanet_520820 Human_Phenotype_Ontology:HP:0000562,Human_Phenotype_Ontology:HP:0000590,MONDO:MONDO:0005181,MeSH:D017246,MedGen:C0162674,Orphanet:520820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Possible mitochondrial disorder - nuclear genes possible_mitochondrial_disorder_nuclear_genes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Neuromuscular dysphagia human_phenotype_ontology_hp_0002068_medgen_c4025729 Human_Phenotype_Ontology:HP:0002068,MedGen:C4025729 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK EMG: myopathic abnormalities human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Dysphonia human_phenotype_ontology_hp_0001618_medgen_c1527344 Human_Phenotype_Ontology:HP:0001618,MedGen:C1527344 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Depression human_phenotype_ontology_hp_0000716_mondo_mondo_0002050_mesh_d003866_medgen_c0011581 Human_Phenotype_Ontology:HP:0000716,MONDO:MONDO:0002050,MeSH:D003866,MedGen:C0011581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Bilateral ptosis human_phenotype_ontology_hp_0001488_medgen_c1865916 Human_Phenotype_Ontology:HP:0001488,MedGen:C1865916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Abnormal mitochondria in muscle tissue human_phenotype_ontology_hp_0008316_medgen_c4021546 Human_Phenotype_Ontology:HP:0008316,MedGen:C4021546 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST2 Ablepharon macrostomia syndrome mondo_mondo_0008693_medgen_c1860224_omim_200110_orphanet_920 MONDO:MONDO:0008693,MedGen:C1860224,OMIM:200110,Orphanet:920 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 Saethre-Chotzen syndrome with eyelid anomalies medgen_c1863370 MedGen:C1863370 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUT1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUSC3 Intellectual disability, autosomal recessive 24 mondo_mondo_0013707_medgen_c3280543_omim_614345_orphanet_88616 MONDO:MONDO:0013707,MedGen:C3280543,OMIM:614345,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUSC3 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Syndactyly human_phenotype_ontology_hp_0001159_human_phenotype_ontology_hp_0001206_human_phenotype_ontology_hp_0001236_mondo_mondo_0021002_medgen_c0039075 Human_Phenotype_Ontology:HP:0001159,Human_Phenotype_Ontology:HP:0001206,Human_Phenotype_Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Retinal degeneration human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Polydactyly, postaxial, type A1 mondo_mondo_0008266_medgen_c4282400_omim_174200 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Brachydactyly human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP6 TUBGCP6-related disorder tubgcp6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP4 TUBGCP4-related disorder tubgcp4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP4 Autosomal recessive chorioretinopathy-microcephaly syndrome medgen_c3502492_orphanet_2518 MedGen:C3502492,Orphanet:2518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP2 Abnormality of neuronal migration human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBG1 Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB8 Inherited oocyte maturation defect mondo_mondo_0014769_medgen_cn238505_omim_ps615774 MONDO:MONDO:0014769,MedGen:CN238505,OMIM:PS615774 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB6 Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB6 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction mondo_mondo_0060589_medgen_c4540277_omim_617732 MONDO:MONDO:0060589,MedGen:C4540277,OMIM:617732 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Tetraplegia/tetraparesis human_phenotype_ontology_hp_0030182_medgen_c4022595 Human_Phenotype_Ontology:HP:0030182,MedGen:C4022595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A TUBB4A-related neurologic disorder mondo_mondo_0800470_medgen_cn375930 MONDO:MONDO:0800470,MedGen:CN375930 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A TUBB4A-related disorder tubb4a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Cerebral hypomyelination human_phenotype_ontology_hp_0006808_medgen_c2677328 Human_Phenotype_Ontology:HP:0006808,MedGen:C2677328 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Aplasia/Hypoplasia of the cerebellum human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Abnormal basal ganglia MRI signal intensity human_phenotype_ontology_hp_0012751_medgen_c4022745 Human_Phenotype_Ontology:HP:0012751,MedGen:C4022745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 TUBB3-Releated Disorders tubb3_releated_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Congenital fibrosis of extraocular muscles human_phenotype_ontology_hp_0001491_mondo_mondo_0007614_medgen_c1302995_omim_ps135700_orphanet_45358 Human_Phenotype_Ontology:HP:0001491,MONDO:MONDO:0007614,MedGen:C1302995,OMIM:PS135700,Orphanet:45358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Brain malformation medgen_c0266449_orphanet_199633 MedGen:C0266449,Orphanet:199633 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2B TUBB2B-related disorder tubb2b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2B Congenital bilateral perisylvian syndrome human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2A Tubulinopathy mondo_mondo_0100153_medgen_cn850169 MONDO:MONDO:0100153,MedGen:CN850169 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2A TUBB2A-related tubulinopathy mondo_mondo_0700044_medgen_cn322834 MONDO:MONDO:0700044,MedGen:CN322834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2A TUBB2A-related disorder tubb2a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2A Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2A Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB1 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB1 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss mondo_mondo_0015912_medgen_c5200934_omim_155100_orphanet_182050 MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB1 Congenital hypothyroidism human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB TUBB-related disorder tubb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA8 Macrothrombocytopenia, isolated, 2, autosomal dominant mondo_mondo_0030827_medgen_c5676968_omim_619840 MONDO:MONDO:0030827,MedGen:C5676968,OMIM:619840 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA4B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA4B Spastic ataxia 11, autosomal dominant mondo_mondo_0979230_medgen_c6012733_omim_621226 MONDO:MONDO:0979230,MedGen:C6012733,OMIM:621226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA4B Amyotrophic lateral sclerosis type 22 mondo_mondo_0014531_medgen_c4015512_omim_616208_orphanet_803 MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA3E Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA3E Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA3E Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA3E Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Movement disorder human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Decreased head circumference human_phenotype_ontology_hp_0040195_medgen_c0424688 Human_Phenotype_Ontology:HP:0040195,MedGen:C0424688 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Cryptorchidism human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Congenital fibrosis of extraocular muscles human_phenotype_ontology_hp_0001491_mondo_mondo_0007614_medgen_c1302995_omim_ps135700_orphanet_45358 Human_Phenotype_Ontology:HP:0001491,MONDO:MONDO:0007614,MedGen:C1302995,OMIM:PS135700,Orphanet:45358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Congenital bilateral perisylvian syndrome human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Autosomal recessive limb-girdle muscular dystrophy type 2D mondo_mondo_0011968_medgen_c2936332_omim_608099_orphanet_62 MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099,Orphanet:62 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Abnormality of neuronal migration human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Abnormal cortical gyration human_phenotype_ontology_hp_0002536_human_phenotype_ontology_hp_0006900_medgen_c1856019 Human_Phenotype_Ontology:HP:0002536,Human_Phenotype_Ontology:HP:0006900,MedGen:C1856019 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Abnormal brainstem morphology human_phenotype_ontology_hp_0002363_medgen_c1850601 Human_Phenotype_Ontology:HP:0002363,MedGen:C1850601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Carpal tunnel syndrome mondo_mondo_0007275_medgen_c0007286_omim_ps115430 MONDO:MONDO:0007275,MedGen:C0007286,OMIM:PS115430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTR ATTRV122I amyloidosis mondo_mondo_0019441_medgen_c4275067_orphanet_85451 MONDO:MONDO:0019441,MedGen:C4275067,Orphanet:85451 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA medgen_c4016663 MedGen:C4016663 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Ventricular tachycardia efo_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN TNN-related disorder tnn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Rimmed vacuoles human_phenotype_ontology_hp_0003805_human_phenotype_ontology_hp_0009029_medgen_c1853932 Human_Phenotype_Ontology:HP:0003805,Human_Phenotype_Ontology:HP:0009029,MedGen:C1853932 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Restrictive cardiomyopathy human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Reduced left ventricular ejection fraction human_phenotype_ontology_hp_0012664_medgen_c4022792 Human_Phenotype_Ontology:HP:0012664,MedGen:C4022792 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Non-compaction cardiomyopathy mondo_mondo_0005418_medgen_c4324548 MONDO:MONDO:0005418,MedGen:C4324548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Myocarditis human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Multiminicore myopathy mondo_mondo_0018948_medgen_c0270962_orphanet_598 MONDO:MONDO:0018948,MedGen:C0270962,Orphanet:598 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Mitral valve prolapse human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Lower limb muscle weakness human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Low-output congestive heart failure human_phenotype_ontology_hp_0009805_medgen_c4024201 Human_Phenotype_Ontology:HP:0009805,MedGen:C4024201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Limb-girdle muscle weakness human_phenotype_ontology_hp_0003325_human_phenotype_ontology_hp_0008971_medgen_c1858127 Human_Phenotype_Ontology:HP:0003325,Human_Phenotype_Ontology:HP:0008971,MedGen:C1858127 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Limb-girdle muscle atrophy human_phenotype_ontology_hp_0003797_medgen_c1842552 Human_Phenotype_Ontology:HP:0003797,MedGen:C1842552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Interstitial cardiac fibrosis human_phenotype_ontology_hp_0031329_medgen_c4531194 Human_Phenotype_Ontology:HP:0031329,MedGen:C4531194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Hereditary inclusion-body myopathy mondo_mondo_0016112_medgen_c5680794_orphanet_206662 MONDO:MONDO:0016112,MedGen:C5680794,Orphanet:206662 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Feingold syndrome type 1 mondo_mondo_0008115_medgen_c4551774_omim_164280_orphanet_1305_orphanet_391641 MONDO:MONDO:0008115,MedGen:C4551774,OMIM:164280,Orphanet:1305,Orphanet:391641 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement cap_congenital_myopathy_with_arthrogryposis_multiplex_congenita_without_heart_involvement . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Arrhythmogenic right ventricular dysplasia 9 mondo_mondo_0012180_medgen_c1836906_omim_609040 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTLL5 Central areolar choroidal dystrophy mondo_mondo_0008982_medgen_c1536451_omim_ps215500_orphanet_75377 MONDO:MONDO:0008982,MedGen:C1536451,OMIM:PS215500,Orphanet:75377 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTI2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTI1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTI1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Truncal obesity human_phenotype_ontology_hp_0001956_human_phenotype_ontology_hp_0008885_medgen_c4551560 Human_Phenotype_Ontology:HP:0001956,Human_Phenotype_Ontology:HP:0008885,MedGen:C4551560 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Postaxial foot polydactyly human_phenotype_ontology_hp_0001830_human_phenotype_ontology_hp_0010346_medgen_c2112129 Human_Phenotype_Ontology:HP:0001830,Human_Phenotype_Ontology:HP:0010346,MedGen:C2112129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC29 TTC29-related condition ttc29_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC29 Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY short_rib_thoracic_dysplasia_4_with_polydactyly . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Finnish congenital nephrotic syndrome mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Bardet-Biedl syndrome 2 mondo_mondo_0014432_medgen_c2936863_omim_615981_orphanet_110 MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21A TTC21A-related disorder ttc21a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21A Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21A Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21A Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC19 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC19 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC19 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTBK1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTBK1 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSR2 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis mondo_mondo_0011639_medgen_c4225411_omim_606164_orphanet_124 MONDO:MONDO:0011639,MedGen:C4225411,OMIM:606164,Orphanet:124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSR2 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis mondo_mondo_0010493_medgen_c4225422_omim_300946_orphanet_124 MONDO:MONDO:0010493,MedGen:C4225422,OMIM:300946,Orphanet:124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPOAP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPOAP1 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN12 Vitreoretinopathy human_phenotype_ontology_hp_0000655_human_phenotype_ontology_hp_0007773_mondo_mondo_0020248_medgen_c0344290 Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN12 Persistent hyperplastic primary vitreous, autosomal recessive mondo_mondo_0009097_medgen_c1969783_omim_221900_orphanet_91495 MONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900,Orphanet:91495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN12 Familial exudative vitreoretinopathy mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN12 Atrophia bulborum hereditaria human_phenotype_ontology_hp_6000262_mondo_mondo_0010691_medgen_c0266526_omim_310600_orphanet_649 Human_Phenotype_Ontology:HP:6000262,MONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600,Orphanet:649 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies medgen_c5679924_orphanet_352687 MedGen:C5679924,Orphanet:352687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Autosomal recessive POMGNT1-related disorders autosomal_recessive_pomgnt1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHZ3 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHZ1 Aural atresia, congenital mondo_mondo_0011921_medgen_c1842937_omim_607842 MONDO:MONDO:0011921,MedGen:C1842937,OMIM:607842 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC thyroid_carcinoma_with_thyrotoxicosis_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR Smith-Lemli-Opitz syndrome mondo_mondo_0010035_medgen_c0175694_omim_270400_orphanet_818 MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHB TSHB-related disorder tshb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHB Pituitary hypothyroidism human_phenotype_ontology_hp_0008245_human_phenotype_ontology_hp_0008248_medgen_c3665349 Human_Phenotype_Ontology:HP:0008245,Human_Phenotype_Ontology:HP:0008248,MedGen:C3665349 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSGA10 Spermatogenic failure 26 mondo_mondo_0054730_medgen_c4693773_omim_617961 MONDO:MONDO:0054730,MedGen:C4693773,OMIM:617961 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSFM Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSFM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 TSEN54 Pontocerebellar Hypoplasia tsen54_pontocerebellar_hypoplasia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Pontocerebellar hypoplasia type 2 mondo_mondo_0016759_medgen_c2932714_orphanet_2524 MONDO:MONDO:0016759,MedGen:C2932714,Orphanet:2524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Hypertonia human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Huppke-Brendel syndrome mondo_mondo_0013772_medgen_c4751114_omim_614482_orphanet_300313 MONDO:MONDO:0013772,MedGen:C4751114,OMIM:614482,Orphanet:300313 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Amblyopia human_phenotype_ontology_hp_0000646_mondo_mondo_0001020_medgen_c0002418 Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN54 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSEN2 Hemolytic-uremic syndrome human_phenotype_ontology_hp_0005575_mondo_mondo_0001549_medgen_c0019061_orphanet_544458 Human_Phenotype_Ontology:HP:0005575,MONDO:MONDO:0001549,MedGen:C0019061,Orphanet:544458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Xanthinuria type II mondo_mondo_0011346_medgen_c1863688_omim_603592_orphanet_3467_orphanet_93602 MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Neoplasm human_phenotype_ontology_hp_0002664_human_phenotype_ontology_hp_0003008_human_phenotype_ontology_hp_0006741_mondo_mondo_0005070_mesh_d009369_medgen_c0027651 Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Infantile spasms human_phenotype_ontology_hp_0012469_medgen_c3887898 Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Hamartoma human_phenotype_ontology_hp_0010566_mondo_mondo_0006499_medgen_c0018552 Human_Phenotype_Ontology:HP:0010566,MONDO:MONDO:0006499,MedGen:C0018552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Focal cortical dysplasia human_phenotype_ontology_hp_0032046_medgen_c2938983 Human_Phenotype_Ontology:HP:0032046,MedGen:C2938983 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Everolimus response everolimus_response . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Dental enamel pits human_phenotype_ontology_hp_0009722_medgen_c1860711 Human_Phenotype_Ontology:HP:0009722,MedGen:C1860711 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Bone osteosarcoma mondo_mondo_0002629_medgen_c0585442_omim_259500_orphanet_668 MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC2 Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Renal insufficiency human_phenotype_ontology_hp_0000083_human_phenotype_ontology_hp_0000084_human_phenotype_ontology_hp_0004723_medgen_c1565489 Human_Phenotype_Ontology:HP:0000083,Human_Phenotype_Ontology:HP:0000084,Human_Phenotype_Ontology:HP:0004723,MedGen:C1565489 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Renal cortical cysts human_phenotype_ontology_hp_0000803_medgen_c1969144 Human_Phenotype_Ontology:HP:0000803,MedGen:C1969144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Multiple renal cysts human_phenotype_ontology_hp_0005562_medgen_c0431718 Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Hamartoma human_phenotype_ontology_hp_0010566_mondo_mondo_0006499_medgen_c0018552 Human_Phenotype_Ontology:HP:0010566,MONDO:MONDO:0006499,MedGen:C0018552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Cortical dysplasia human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Cardiac rhabdomyoma human_phenotype_ontology_hp_0009729_mondo_mondo_0006123_medgen_c1332852 Human_Phenotype_Ontology:HP:0009729,MONDO:MONDO:0006123,MedGen:C1332852 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Autosomal dominant epilepsy autosomal_dominant_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSC1 Adenoma sebaceum human_phenotype_ontology_hp_0009720_medgen_c0265319 Human_Phenotype_Ontology:HP:0009720,MedGen:C0265319 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRRAP TRRAP-related neurodevelopmental disorder trrap_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRRAP TRRAP-related disorder trrap_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRRAP Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRRAP Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV6 Slender long bone human_phenotype_ontology_hp_0003060_human_phenotype_ontology_hp_0003061_human_phenotype_ontology_hp_0003096_human_phenotype_ontology_hp_0003100_human_phenotype_ontology_hp_0005064_medgen_c1833144 Human_Phenotype_Ontology:HP:0003060,Human_Phenotype_Ontology:HP:0003061,Human_Phenotype_Ontology:HP:0003096,Human_Phenotype_Ontology:HP:0003100,Human_Phenotype_Ontology:HP:0005064,MedGen:C1833144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV6 Metaphyseal fractures metaphyseal_fractures . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV6 Hyperparathyroidism human_phenotype_ontology_hp_0000843_mondo_mondo_0001741_medgen_c0020502 Human_Phenotype_Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV6 Embryonic calcium dysregulation embryonic_calcium_dysregulation . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV5 Renal Calcium Wasting Hypercalciuria renal_calcium_wasting_hypercalciuria . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 TRPV4-Related Hereditary Motor And Sensory Neuropathy trpv4_related_hereditary_motor_and_sensory_neuropathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 TRPV4-Associated Disorders trpv4_associated_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Sodium serum level quantitative trait locus 1 medgen_c3150755_omim_613508 MedGen:C3150755,OMIM:613508 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Skeletal dysplasia and progressive central nervous system degeneration, lethal mondo_mondo_0011263_medgen_c1865117_omim_602613 MONDO:MONDO:0011263,MedGen:C1865117,OMIM:602613 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Multiple epiphyseal dysplasia human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Lower limb amyotrophy human_phenotype_ontology_hp_0007210_medgen_c4024921 Human_Phenotype_Ontology:HP:0007210,MedGen:C4024921 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Hereditary motor neuron disease mondo_mondo_0024257_medgen_c0270763_orphanet_98505 MONDO:MONDO:0024257,MedGen:C0270763,Orphanet:98505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 EMG abnormality human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Avascular necrosis of femoral head, primary, 2 mondo_mondo_0054551_medgen_c4479260_omim_617383 MONDO:MONDO:0054551,MedGen:C4479260,OMIM:617383 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Trichorhinophalangeal syndrome type 1 and 3 medgen_c5231006 MedGen:C5231006 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Sparse hair human_phenotype_ontology_hp_0002237_human_phenotype_ontology_hp_0002291_human_phenotype_ontology_hp_0004522_human_phenotype_ontology_hp_0004538_human_phenotype_ontology_hp_0008070_medgen_c5551005 Human_Phenotype_Ontology:HP:0002237,Human_Phenotype_Ontology:HP:0002291,Human_Phenotype_Ontology:HP:0004522,Human_Phenotype_Ontology:HP:0004538,Human_Phenotype_Ontology:HP:0008070,MedGen:C5551005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Sparse and thin eyebrow human_phenotype_ontology_hp_0000535_human_phenotype_ontology_hp_0002222_human_phenotype_ontology_hp_0002554_human_phenotype_ontology_hp_0004520_human_phenotype_ontology_hp_0004551_medgen_c4282407 Human_Phenotype_Ontology:HP:0000535,Human_Phenotype_Ontology:HP:0002222,Human_Phenotype_Ontology:HP:0002554,Human_Phenotype_Ontology:HP:0004520,Human_Phenotype_Ontology:HP:0004551,MedGen:C4282407 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Proportionate short stature human_phenotype_ontology_hp_0003499_human_phenotype_ontology_hp_0003508_medgen_c0878660 Human_Phenotype_Ontology:HP:0003499,Human_Phenotype_Ontology:HP:0003508,MedGen:C0878660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Pear-shaped nose human_phenotype_ontology_hp_0000447_medgen_c1853482 Human_Phenotype_Ontology:HP:0000447,MedGen:C1853482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Mitral valve prolapse human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Hyperextensible skin human_phenotype_ontology_hp_0000974_human_phenotype_ontology_hp_0007389_human_phenotype_ontology_hp_0007493_human_phenotype_ontology_hp_0007578_medgen_c0241074 Human_Phenotype_Ontology:HP:0000974,Human_Phenotype_Ontology:HP:0007389,Human_Phenotype_Ontology:HP:0007493,Human_Phenotype_Ontology:HP:0007578,MedGen:C0241074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Brachydactyly human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Alopecia areata mondo_mondo_0005340_medgen_c0002171 MONDO:MONDO:0005340,MedGen:C0002171 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Abnormally high-pitched voice human_phenotype_ontology_hp_0001610_human_phenotype_ontology_hp_0001620_human_phenotype_ontology_hp_0008374_human_phenotype_ontology_hp_0008377_human_phenotype_ontology_hp_0008378_human_phenotype_ontology_hp_0008379_human_phenotype_ontology_hp_0009146_medgen_c0241703 Human_Phenotype_Ontology:HP:0001610,Human_Phenotype_Ontology:HP:0001620,Human_Phenotype_Ontology:HP:0008374,Human_Phenotype_Ontology:HP:0008377,Human_Phenotype_Ontology:HP:0008378,Human_Phenotype_Ontology:HP:0008379,Human_Phenotype_Ontology:HP:0009146,MedGen:C0241703 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM6 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM6 Hypomagnesemia human_phenotype_ontology_hp_0002917_human_phenotype_ontology_hp_0003284_mondo_mondo_0018100_medgen_c0151723_omim_ps602014 Human_Phenotype_Ontology:HP:0002917,Human_Phenotype_Ontology:HP:0003284,MONDO:MONDO:0018100,MedGen:C0151723,OMIM:PS602014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM6 Autosomal recessive nonsyndromic hearing loss 7 mondo_mondo_0010967_medgen_c1832978_omim_600974_orphanet_90636 MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM6 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM4 TRPM4-related disorder trpm4_related_disorder MedGen:CN239424 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM4 Exertional Heat Illness exertional_heat_illness . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM4 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 TRPM3-related disorder trpm3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Mulibrey nanism syndrome mondo_mondo_0009664_medgen_c0524582_omim_253250_orphanet_2576 MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome mondo_mondo_0014747_medgen_c4225493_omim_616722_orphanet_488197 MONDO:MONDO:0014747,MedGen:C4225493,OMIM:616722,Orphanet:488197 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Birk-Barel syndrome mondo_mondo_0012856_medgen_c2676770_omim_612292_orphanet_166108 MONDO:MONDO:0012856,MedGen:C2676770,OMIM:612292,Orphanet:166108 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM3 Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPC6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPC6 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPC4 Autism, susceptiblity to mondo_mondo_0020836_medgen_cn301178_omim_ps209850 MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPC3 Spinocerebellar ataxia type 41 mondo_mondo_0014626_medgen_c4225158_omim_616410_orphanet_458798 MONDO:MONDO:0014626,MedGen:C4225158,OMIM:616410,Orphanet:458798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPA1 Familial episodic pain syndrome with predominantly upper body involvement mondo_mondo_0014021_medgen_c3808667_omim_615040_orphanet_391384_orphanet_391389 MONDO:MONDO:0014021,MedGen:C3808667,OMIM:615040,Orphanet:391384,Orphanet:391389 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 Intellectual disability, autosomal recessive 2 mondo_mondo_0011828_medgen_c1843942_omim_607417_orphanet_88616 MONDO:MONDO:0011828,MedGen:C1843942,OMIM:607417,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 Developmental and epileptic encephalopathy, 57 mondo_mondo_0033366_medgen_c4540411_omim_617771 MONDO:MONDO:0033366,MedGen:C4540411,OMIM:617771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT61A De Lange syndrome mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT10C Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT10C Combined oxidative phosphorylation defect type 30 mondo_mondo_0014856_medgen_c5567605_omim_616974_orphanet_478042 MONDO:MONDO:0014856,MedGen:C5567605,OMIM:616974,Orphanet:478042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMT10A Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIT1 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIT1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 TRIP12 associated autism with facial dysmorphology trip12_associated_autism_with_facial_dysmorphology . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 Self-limited familial infantile epilepsy mondo_mondo_0100024_medgen_cn322666 MONDO:MONDO:0100024,MedGen:CN322666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP11 TRIP11-related skeletal dysplasia mondo_mondo_1040009_medgen_cn378136 MONDO:MONDO:1040009,MedGen:CN378136 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIOBP Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM8 TRIM8-related epileptic encephalopathy trim8_related_epileptic_encephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM71 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM71 TRIM71-related disorder trim71_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM71 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM71 Congenital hydrocephalus mondo_mondo_0016349_medgen_c0020256_omim_ps236600_orphanet_2185 MONDO:MONDO:0016349,MedGen:C0020256,OMIM:PS236600,Orphanet:2185 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM63 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM63 Idiopathic cardiomyopathy mondo_mondo_0005110_mesh_d009202_medgen_c0033141 MONDO:MONDO:0005110,MeSH:D009202,MedGen:C0033141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM63 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM63 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM37 TRIM37-related disorder trim37_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM36 Anencephaly human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM33 Developmental dysplasia of the hip 4 mondo_mondo_0979872_medgen_cn379784_omim_621311 MONDO:MONDO:0979872,MedGen:CN379784,OMIM:621311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM33 Developmental dysplasia of the hip human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Autosomal recessive TRIM32-related disorders autosomal_recessive_trim32_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM28 Nephroblastoma human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM24 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Thrombotic microangiopathy mondo_mondo_0019737_mesh_d057049_medgen_c2717961_orphanet_93573 MONDO:MONDO:0019737,MeSH:D057049,MedGen:C2717961,Orphanet:93573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Systemic lupus erythematosus, susceptibility to medgen_c3862275 MedGen:C3862275 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy mondo_mondo_0007432_medgen_c0751587_omim_ps125310 MONDO:MONDO:0007432,MedGen:C0751587,OMIM:PS125310 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Aicardi Goutieres syndrome mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Adult onset neurodegenerative disorder adult_onset_neurodegenerative_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREM2 TREM2-related disorder trem2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREM2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly mondo_mondo_0009092_medgen_c1857316_omim_ps221770_orphanet_2770 MONDO:MONDO:0009092,MedGen:C1857316,OMIM:PS221770,Orphanet:2770 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREM2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREM2 Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome mondo_mondo_0018123_medgen_c4706414_orphanet_352530 MONDO:MONDO:0018123,MedGen:C4706414,Orphanet:352530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 Autosomal recessive non-syndromic intellectual disability mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC6B TRAPPC6B-related neurodevelopmental disorder trappc6b_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC6B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC4 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies mondo_mondo_0060502_medgen_c4479631_omim_617527_orphanet_521426 MONDO:MONDO:0060502,MedGen:C4479631,OMIM:617527,Orphanet:521426 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC3 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2L KBG syndrome mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2 Hereditary spastic paraplegia 4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC2 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC14 Microcephaly 25, primary, autosomal recessive mondo_mondo_0032694_medgen_c5193046_omim_618351 MONDO:MONDO:0032694,MedGen:C5193046,OMIM:618351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC12 Severe hydrocephalus human_phenotype_ontology_hp_0006882_medgen_c3278123 Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC11 TRAPPC11-related disorder trappc11_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC11 Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC10 TRAPPopathy microcephalic trappopathy_microcephalic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC10 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES neurodevelopmental_disorder_with_microcephaly_short_stature_speech_delay_and_behavioral_abnormalities . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC10 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAP1 Congenital anomalies of kidney and urinary tract 1 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF7 TRAF7-related syndrome traf7_related_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF7 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome mondo_mondo_0035661_medgen_c5681633_orphanet_592570 MONDO:MONDO:0035661,MedGen:C5681633,Orphanet:592570 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF5 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3IP2 Psoriasis 13, susceptibility to mondo_mondo_0013554_medgen_c3279754_omim_614070 MONDO:MONDO:0013554,MedGen:C3279754,OMIM:614070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3IP2 Discoid lupus erythematosus human_phenotype_ontology_hp_0000981_human_phenotype_ontology_hp_0007417_mondo_mondo_0019558_medgen_c5574816_orphanet_90281 Human_Phenotype_Ontology:HP:0000981,Human_Phenotype_Ontology:HP:0007417,MONDO:MONDO:0019558,MedGen:C5574816,Orphanet:90281 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3IP1 TRAF3IP1-related disorder traf3ip1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3 TRAF3-related disorder traf3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3 TRAF3 haploinsufficiency mondo_mondo_0100513_medgen_cn372338 MONDO:MONDO:0100513,MedGen:CN372338 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAF3 Herpes simplex encephalitis, susceptibility to, 3 mondo_mondo_0013920_medgen_c3553868_omim_614849_orphanet_1930 MONDO:MONDO:0013920,MedGen:C3553868,OMIM:614849,Orphanet:1930 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRA2B TRA2B-related condition tra2b_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRA2B TRA2B-associated epileptic encephalopathy tra2b_associated_epileptic_encephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPRN TPRN-related disorder tprn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPRN Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPRN Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 Recurrent upper respiratory tract infections human_phenotype_ontology_hp_0001740_human_phenotype_ontology_hp_0002784_human_phenotype_ontology_hp_0002788_medgen_c0581381 Human_Phenotype_Ontology:HP:0001740,Human_Phenotype_Ontology:HP:0002784,Human_Phenotype_Ontology:HP:0002788,MedGen:C0581381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 Recurrent lower respiratory tract infections human_phenotype_ontology_hp_0002783_human_phenotype_ontology_hp_0004884_human_phenotype_ontology_hp_0005955_medgen_c3163798 Human_Phenotype_Ontology:HP:0002783,Human_Phenotype_Ontology:HP:0004884,Human_Phenotype_Ontology:HP:0005955,MedGen:C3163798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 Cutis marmorata human_phenotype_ontology_hp_0000965_human_phenotype_ontology_hp_0001037_medgen_c0263401 Human_Phenotype_Ontology:HP:0000965,Human_Phenotype_Ontology:HP:0001037,MedGen:C0263401 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP2 Acute otitis media human_phenotype_ontology_hp_0000371_medgen_c0271429 Human_Phenotype_Ontology:HP:0000371,MedGen:C0271429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 Juvenile neuronal ceroid lipofuscinosis mondo_mondo_0019262_medgen_cn293564_orphanet_79264 MONDO:MONDO:0019262,MedGen:CN293564,Orphanet:79264 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 Angelman syndrome mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Protruding tongue human_phenotype_ontology_hp_0010808_medgen_c0241442 Human_Phenotype_Ontology:HP:0010808,MedGen:C0241442 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM3 TPM3-related core myopathy tpm3_related_core_myopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM3 Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM3 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 TPM2-related myopathy mondo_mondo_0100196_medgen_cn294818 MONDO:MONDO:0100196,MedGen:CN294818 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 TPM2-related cap myopathy medgen_c2750413 MedGen:C2750413 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 Distal arthrogryposis type 2B1 mondo_mondo_0020820_medgen_c5193014_omim_601680_orphanet_1147 MONDO:MONDO:0020820,MedGen:C5193014,OMIM:601680,Orphanet:1147 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 Arthrogryposis mondo_mondo_0008779_medgen_c0003886 MONDO:MONDO:0008779,MedGen:C0003886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Pulmonary atresia with intact ventricular septum mondo_mondo_0009931_medgen_c0344975_omim_265150_orphanet_1208 MONDO:MONDO:0009931,MedGen:C0344975,OMIM:265150,Orphanet:1208 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Familial cardiomyopathy mondo_mondo_0005217_medgen_c0264789 MONDO:MONDO:0005217,MedGen:C0264789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Effort-induced polymorphic ventricular tachycardia human_phenotype_ontology_hp_0004758_medgen_c4025298 Human_Phenotype_Ontology:HP:0004758,MedGen:C4025298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Atrial septal defect 1 mondo_mondo_0007172_medgen_c1862389_omim_108800_orphanet_1478 MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPK1 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPCN2 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 medgen_c2677088_omim_612267 MedGen:C2677088,OMIM:612267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP73 Respiratory failure human_phenotype_ontology_hp_0002878_human_phenotype_ontology_hp_0004877_mondo_mondo_0021113_medgen_c1145670 Human_Phenotype_Ontology:HP:0002878,Human_Phenotype_Ontology:HP:0004877,MONDO:MONDO:0021113,MedGen:C1145670 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations mondo_mondo_1040001_medgen_cn378757 MONDO:MONDO:1040001,MedGen:CN378757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Furrowed tongue human_phenotype_ontology_hp_0000221_medgen_c0040412 Human_Phenotype_Ontology:HP:0000221,MedGen:C0040412 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53RK Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53BP1 TUBGCP4-related disorder tubgcp4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53BP1 Microcephaly and chorioretinopathy 3 mondo_mondo_0014592_medgen_c4225362_omim_616335 MONDO:MONDO:0014592,MedGen:C4225362,OMIM:616335 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53BP1 Autosomal recessive chorioretinopathy-microcephaly syndrome medgen_c3502492_orphanet_2518 MedGen:C3502492,Orphanet:2518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Thyroid gland undifferentiated (anaplastic) carcinoma human_phenotype_ontology_hp_0011779_mondo_mondo_0006468_mesh_d065646_medgen_c0238461_orphanet_142 Human_Phenotype_Ontology:HP:0011779,MONDO:MONDO:0006468,MeSH:D065646,MedGen:C0238461,Orphanet:142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Small cell carcinoma of the ovary, hypercalcemic type medgen_c4013716 MedGen:C4013716 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Pleomorphic xanthoastrocytoma human_phenotype_ontology_hp_0033682_mondo_mondo_0016690_medgen_c0334586_orphanet_251607 Human_Phenotype_Ontology:HP:0033682,MONDO:MONDO:0016690,MedGen:C0334586,Orphanet:251607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Mediastinal germ cell tumor mondo_mondo_0021067_medgen_c1334655 MONDO:MONDO:0021067,MedGen:C1334655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Lymphoma human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Lung sarcomatoid carcinoma mondo_mondo_0006279_medgen_c1708781 MONDO:MONDO:0006279,MedGen:C1708781 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Hepatoblastoma human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Ductal carcinoma in situ human_phenotype_ontology_hp_0030075_mondo_mondo_0005023_medgen_c0007124 Human_Phenotype_Ontology:HP:0030075,MONDO:MONDO:0005023,MedGen:C0007124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype mondo_mondo_0858939_medgen_c5669918 MONDO:MONDO:0858939,MedGen:C5669918 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Congenital fibrosarcoma mondo_mondo_0004557_medgen_c0334459 MONDO:MONDO:0004557,MedGen:C0334459 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Colonic diverticula human_phenotype_ontology_hp_0002253_human_phenotype_ontology_hp_0005860_medgen_c0012819 Human_Phenotype_Ontology:HP:0002253,Human_Phenotype_Ontology:HP:0005860,MedGen:C0012819 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Cervical cancer human_phenotype_ontology_hp_0030079_mondo_mondo_0002974_medgen_c4048328_omim_603956 Human_Phenotype_Ontology:HP:0030079,MONDO:MONDO:0002974,MedGen:C4048328,OMIM:603956 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Atypical teratoid rhabdoid tumor human_phenotype_ontology_hp_0034401_mondo_mondo_0020560_medgen_c1266184_orphanet_99966 Human_Phenotype_Ontology:HP:0034401,MONDO:MONDO:0020560,MedGen:C1266184,Orphanet:99966 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Anaplastic/large cell medulloblastoma mondo_mondo_0016709_medgen_c4330531_orphanet_251855 MONDO:MONDO:0016709,MedGen:C4330531,Orphanet:251855 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Adenocarcinoma mondo_mondo_0004970_medgen_c0001418 MONDO:MONDO:0004970,MedGen:C0001418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP53 Acute megakaryoblastic leukemia human_phenotype_ontology_hp_0006733_mondo_mondo_0018872_mesh_d007947_medgen_c0023462_orphanet_518 Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1AIP2 Autosomal recessive limb-girdle muscular dystrophy type 2Y mondo_mondo_0014900_medgen_c4511482_omim_617072_orphanet_424261 MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1AIP1 TOR1AIP1-related disorder tor1aip1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1AIP1 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1AIP1 Autosomal recessive TOR1AIP1-related disorders autosomal_recessive_tor1aip1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOPORS TOPORS-related retinopathy mondo_mondo_0700233_medgen_cn375908 MONDO:MONDO:0700233,MedGen:CN375908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOPORS TOPORS-related disorder topors_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP6BL Spermatogenic failure 88 mondo_mondo_0957821_medgen_c5882706_omim_620547 MONDO:MONDO:0957821,MedGen:C5882706,OMIM:620547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP6BL Hydatidiform mole, recurrent, 4 mondo_mondo_0032747_medgen_c5193094_omim_618432 MONDO:MONDO:0032747,MedGen:C5193094,OMIM:618432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP3A Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP3A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP2B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP2B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOP1 DNA topoisomerase I, camptothecin-resistant medgen_c4016020 MedGen:C4016020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TONSL Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TONSL Skeletal dysplaisia with extra-skeletal manifestations skeletal_dysplaisia_with_extra_skeletal_manifestations . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TONSL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOMT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOM1 Immunodeficiency 85 and autoimmunity mondo_mondo_0030428_medgen_c5561976_omim_619510 MONDO:MONDO:0030428,MedGen:C5561976,OMIM:619510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOGARAM1 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB TNXB-related hypermobile Ehlers-Danlos syndrome tnxb_related_hypermobile_ehlers_danlos_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB Congenital adrenal hyperplasia human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNRC6B TNRC6B-related neurodevelopmental disorder tnrc6b_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNRC6B Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNRC6B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNR condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNPO3 Muscular dystrophy, limb-girdle, autosomal dominant mondo_mondo_0015151_medgen_c5675009_omim_ps603511_orphanet_102014 MONDO:MONDO:0015151,MedGen:C5675009,OMIM:PS603511,Orphanet:102014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNPO2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNPO2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNPO2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Restrictive cardiomyopathy human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Familial isolated dilated cardiomyopathy mondo_mondo_0700335_medgen_c5679590_orphanet_154 MONDO:MONDO:0700335,MedGen:C5679590,Orphanet:154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT1 TNNT1-related disorder tnnt1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3K TNNI3K-related disorder tnni3k_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3K Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3K Arrhythmogenic right ventricular dysplasia 2 medgen_c1832931 MedGen:C1832931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 TNNI3-associated disorder tnni3_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Hypertrophic cardiomyopathy 4 mondo_mondo_0007268_medgen_c1861862_omim_115197 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI2 Ulnar deviation of the wrist human_phenotype_ontology_hp_0003049_medgen_c0231678 Human_Phenotype_Ontology:HP:0003049,MedGen:C0231678 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI2 TNNI2-related disorder tnni2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI2 Distal arthrogryposis human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI2 Congenital finger flexion contractures human_phenotype_ontology_hp_0005879_medgen_c1393871 Human_Phenotype_Ontology:HP:0005879,MedGen:C1393871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI2 Calcaneovalgus deformity human_phenotype_ontology_hp_0001774_human_phenotype_ontology_hp_0001848_human_phenotype_ontology_hp_0008120_medgen_c1860450 Human_Phenotype_Ontology:HP:0001774,Human_Phenotype_Ontology:HP:0001848,Human_Phenotype_Ontology:HP:0008120,MedGen:C1860450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNC1 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNC1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNC1 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNK2 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNIK Intellectual disability, autosomal recessive 54 mondo_mondo_0014876_medgen_c4310755_omim_617028_orphanet_88616 MONDO:MONDO:0014876,MedGen:C4310755,OMIM:617028,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFSF13 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF9 TNFRSF9-related disorder tnfrsf9_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF1A TNFRSF1A-related disorder tnfrsf1a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF1A Multiple sclerosis mondo_mondo_0005301_medgen_c0026769 MONDO:MONDO:0005301,MedGen:C0026769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF1A CHARGE syndrome mondo_mondo_0008965_medgen_c0265354_orphanet_138 MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF1A Behcet disease mondo_mondo_0007191_medgen_c0004943_omim_109650_orphanet_117 MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF13B Hyper-IgM syndrome type 2 mondo_mondo_0011528_medgen_c1720956_omim_605258_orphanet_101089 MONDO:MONDO:0011528,MedGen:C1720956,OMIM:605258,Orphanet:101089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF11A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFAIP3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNF TNF receptor binding, altered medgen_c4016415 MedGen:C4016415 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNC TNC-related disorder tnc_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS9 TMPRSS9-related neurodevelopmental disorder tmprss9_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS9 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS6 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Childhood onset hearing loss childhood_onset_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPPE GLB1-related disorder glb1_related_disorder MedGen:CN377807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMLHE Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMLHE Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMLHE Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMIE Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMIE Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMIE Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM94 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM92 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM92 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM92 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM92 Bilateral squint bilateral_squint MedGen:CN228276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM87B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM70 TMEM70-related disorder tmem70_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM70 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM70 Mitochondrial proton-transporting ATP synthase complex deficiency mondo_mondo_0014471_medgen_c4757950_omim_ps604273_orphanet_254913 MONDO:MONDO:0014471,MedGen:C4757950,OMIM:PS604273,Orphanet:254913 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM70 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 opticusatrophia opticusatrophia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Tremor human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Peritonitis human_phenotype_ontology_hp_0002586_human_phenotype_ontology_hp_0100591_mondo_mondo_1010128_medgen_c0031154 Human_Phenotype_Ontology:HP:0002586,Human_Phenotype_Ontology:HP:0100591,MONDO:MONDO:1010128,MedGen:C0031154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Pancreatitis human_phenotype_ontology_hp_0001733_mondo_mondo_0004982_medgen_c0030305 Human_Phenotype_Ontology:HP:0001733,MONDO:MONDO:0004982,MedGen:C0030305 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Oligohydramnios human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Kidney damage medgen_c1408258 MedGen:C1408258 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Floppy infant human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Cerebellar malformation human_phenotype_ontology_hp_0002438_medgen_c4025708_orphanet_182061 Human_Phenotype_Ontology:HP:0002438,MedGen:C4025708,Orphanet:182061 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Barrel-shaped chest human_phenotype_ontology_hp_0000781_human_phenotype_ontology_hp_0001552_human_phenotype_ontology_hp_0001553_medgen_c0264172 Human_Phenotype_Ontology:HP:0000781,Human_Phenotype_Ontology:HP:0001552,Human_Phenotype_Ontology:HP:0001553,MedGen:C0264172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM63B TMEM63B-associated disorder tmem63b_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM63B Rare epilepsy medgen_c5681770_orphanet_101998 MedGen:C5681770,Orphanet:101998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM50B Immunodeficiency 28 mondo_mondo_0013953_medgen_c4013947_omim_614889_orphanet_319547_orphanet_319574 MONDO:MONDO:0013953,MedGen:C4013947,OMIM:614889,Orphanet:319547,Orphanet:319574 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM47 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM47 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM47 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM47 Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM47 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM47 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 Familial isolated arrhythmogenic right ventricular dysplasia mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 Emery-Dreifuss muscular dystrophy 7, autosomal dominant mondo_mondo_0013677_medgen_c3553060_omim_614302_orphanet_261 MONDO:MONDO:0013677,MedGen:C3553060,OMIM:614302,Orphanet:261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM43 Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM38B Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM260 Type I truncus arteriosus human_phenotype_ontology_hp_0004384_medgen_c1834934 Human_Phenotype_Ontology:HP:0004384,MedGen:C1834934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM256 Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM240 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM237 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM232 Neuropathy, hereditary motor and sensory, type 6B mondo_mondo_0014671_medgen_c4225302_omim_616505 MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM231 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM231 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM230 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM203 Autosomal recessive nonsyndromic hearing loss 79 mondo_mondo_0013215_medgen_c2750082_omim_613307_orphanet_90636 MONDO:MONDO:0013215,MedGen:C2750082,OMIM:613307,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM165 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM163 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM151A TMEM151A-related disorder tmem151a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM147 pseudo-Pelger-Huet anomaly pseudo_pelger_huet_anomaly . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM147 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM147 Poor speech human_phenotype_ontology_hp_0002465_medgen_c1848207 Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM147 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM147 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM147 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM138 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM138 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM132E Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM132E Breast-ovarian cancer, familial, susceptibility to, 2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM132E BRCA2-related cancer predisposition mondo_mondo_0700269_medgen_cn377758 MONDO:MONDO:0700269,MedGen:CN377758 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM127 TMEM127-related tumor predisposition mondo_mondo_0700345_medgen_cn379765 MONDO:MONDO:0700345,MedGen:CN379765 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM127 TMEM127-related disorder tmem127_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126B TMEM126B-related disorder tmem126b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126B Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126B Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126A TMEM126A-related disorder tmem126a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM126A Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM107 Orofaciodigital syndrome mondo_mondo_0015375_medgen_c0029294_omim_ps311200_orphanet_140997 MONDO:MONDO:0015375,MedGen:C0029294,OMIM:PS311200,Orphanet:140997 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM107 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM107 Joubert syndrome 29 mondo_mondo_0800372_medgen_c4539715 MONDO:MONDO:0800372,MedGen:C4539715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM106B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMCO6 Cystic Leukoencephalopathy cystic_leukoencephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMCO1 TMCO1-related disorder tmco1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMCO1 Cerebro-facio-thoracic dysplasia medgen_c1859252 MedGen:C1859252 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMBIM1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR9 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR8 Systemic autoinflammation human_phenotype_ontology_hp_0033428_medgen_c4015070 Human_Phenotype_Ontology:HP:0033428,MedGen:C4015070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR8 Autoimmune hemolytic anemia human_phenotype_ontology_hp_0001890_mondo_mondo_0020108_medgen_c0002880_omim_205700_orphanet_98375 Human_Phenotype_Ontology:HP:0001890,MONDO:MONDO:0020108,MedGen:C0002880,OMIM:205700,Orphanet:98375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLR5 Systemic lupus erythematosus, susceptibility to, 1 mondo_mondo_0011138_medgen_c1866373_omim_601744 MONDO:MONDO:0011138,MedGen:C1866373,OMIM:601744 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLN1 Capillary leak syndrome mondo_mondo_0001956_medgen_c0343084_orphanet_188 MONDO:MONDO:0001956,MedGen:C0343084,Orphanet:188 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 TLK2-related neurodevelopmental disorder tlk2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 Syndromic microphthalmia mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TKT condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TK2 Mitochondrial DNA depletion syndrome 2, myopathic form mitochondrial_dna_depletion_syndrome_2_myopathic_form . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TJP2 Melnick-Fraser syndrome mondo_mondo_0007029_medgen_c0265234_omim_ps113650_orphanet_107 MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TJP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TJP2 Autosomal dominant nonsyndromic hearing loss 51 mondo_mondo_0013305_medgen_c3160736_omim_613558_orphanet_90635 MONDO:MONDO:0013305,MedGen:C3160736,OMIM:613558,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMP3 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMMDC1 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM8A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM50 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM50 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM22 Combined oxidative phosphorylation deficiency 43 mondo_mondo_0030017_medgen_c5394284_omim_618851 MONDO:MONDO:0030017,MedGen:C5394284,OMIM:618851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMELESS Advance sleep phase syndrome, familial, 4 mondo_mondo_0031044_medgen_c5774204_omim_620015 MONDO:MONDO:0031044,MedGen:C5774204,OMIM:620015 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIA1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIA1 Welander distal myopathy mondo_mondo_0011466_medgen_c0221054_omim_604454_orphanet_603 MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THTPA Indifference to pain, congenital, autosomal dominant medgen_c4538468_omim_147430 MedGen:C4538468,OMIM:147430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THSD4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THSD4 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THSD1 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THSD1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THSD1 Aneurysm, intracranial berry, 12 mondo_mondo_0032891_medgen_c5231484_omim_618734 MONDO:MONDO:0032891,MedGen:C5231484,OMIM:618734 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB resistance to thyroid hormone (RTH) resistance_to_thyroid_hormone_rth . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta mondo_mondo_0700478_medgen_cn308011_orphanet_566243 MONDO:MONDO:0700478,MedGen:CN308011,Orphanet:566243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRA Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THPO Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC6 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC2 THOC2-related disorder thoc2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THOC1 Hearing loss, autosomal dominant 86 mondo_mondo_0859524_medgen_c5830340_omim_620280 MONDO:MONDO:0859524,MedGen:C5830340,OMIM:620280 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THG1L condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THG1L Spinocerebellar ataxia, autosomal recessive 28 mondo_mondo_0032923_medgen_c5394101_omim_618800 MONDO:MONDO:0032923,MedGen:C5394101,OMIM:618800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THBS2 Ehlers-Danlos syndrome, classic-like, 3 mondo_mondo_0971044_medgen_c5935631_omim_620865 MONDO:MONDO:0971044,MedGen:C5935631,OMIM:620865 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THBS2 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THBD condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THBD Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP7 Noonan syndrome 2 mondo_mondo_0011531_medgen_c1854469_omim_605275_orphanet_648 MONDO:MONDO:0011531,MedGen:C1854469,OMIM:605275,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP7 Noonan syndrome 10 mondo_mondo_0014693_medgen_c4225280_omim_616564_orphanet_648 MONDO:MONDO:0014693,MedGen:C4225280,OMIM:616564,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP7 LZTR1-related schwannomatosis mondo_mondo_0014299_medgen_c3810283_omim_615670_orphanet_93921 MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP7 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP7 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP11 Methylmalonic aciduria and homocystinuria, cb1L type mondo_mondo_0975798_medgen_c5975387_omim_620940 MONDO:MONDO:0975798,MedGen:C5975387,OMIM:620940 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP11 Methylmalonic acidemia with homocystinuria, type cblX mondo_mondo_0010657_medgen_c0796208_omim_309541_orphanet_369962 MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP11 Disorders of Intracellular Cobalamin Metabolism disorders_of_intracellular_cobalamin_metabolism MedGen:CN043592 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP1 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TH Tyrosine hydroxylase deficiency mondo_mondo_0100064_medgen_c5700309 MONDO:MONDO:0100064,MedGen:C5700309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TH Dystonia 5 mondo_mondo_0007495_medgen_c1851920_omim_128230_orphanet_98808 MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230,Orphanet:98808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM6 TGM6-related disorder tgm6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM5 TGM5-related disorder tgm5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM4 Essential tremor mondo_mondo_0003233_medgen_c0270736_omim_ps190300 MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM3 Uncombable hair syndrome 2 mondo_mondo_0014989_medgen_c4310649_omim_617251 MONDO:MONDO:0014989,MedGen:C4310649,OMIM:617251 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 Treacher Collins syndrome 1 mondo_mondo_0007944_medgen_cn315775_omim_154500_orphanet_861 MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 Autosomal recessive congenital ichthyosis mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGIF2LY Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Isolated thoracic aortic aneurysm isolated_thoracic_aortic_aneurysm . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 TGFBR1-related disorder tgfbr1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Proportionate tall stature human_phenotype_ontology_hp_0011407_medgen_c4023371 Human_Phenotype_Ontology:HP:0011407,MedGen:C4023371 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Long fingers human_phenotype_ontology_hp_0006010_human_phenotype_ontology_hp_0100807_medgen_c1858091 Human_Phenotype_Ontology:HP:0006010,Human_Phenotype_Ontology:HP:0100807,MedGen:C1858091 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Aortic aneurysm human_phenotype_ontology_hp_0004942_mondo_mondo_0005160_medgen_c0003486 Human_Phenotype_Ontology:HP:0004942,MONDO:MONDO:0005160,MedGen:C0003486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Abnormal palate morphology human_phenotype_ontology_hp_0000174_medgen_c4021815 Human_Phenotype_Ontology:HP:0000174,MedGen:C4021815 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Abnormal aortic morphology human_phenotype_ontology_hp_0001679_human_phenotype_ontology_hp_0030963_medgen_c4025756 Human_Phenotype_Ontology:HP:0001679,Human_Phenotype_Ontology:HP:0030963,MedGen:C4025756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBI Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB3 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Marfan syndrome mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Atrial septal defect 1 mondo_mondo_0007172_medgen_c1862389_omim_108800_orphanet_1478 MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Aortic aneurysm, familial thoracic, TGFB2 related aortic_aneurysm_familial_thoracic_tgfb2_related . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB1 Camurati-Engelmann disease type 1 mondo_mondo_0700385_medgen_cn379925_omim_131300 MONDO:MONDO:0700385,MedGen:CN379925,OMIM:131300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGDS TGDS-related disorder tgds_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGDS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TG Hypothyroidism human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFRC TFRC-related combined immunodeficiency mondo_mondo_0014760_medgen_c5568133_omim_616740_orphanet_476113 MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740,Orphanet:476113 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFR2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFR2 TFR2-related disorder tfr2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFR2 Hemochromatosis type 1 mondo_mondo_0021001_medgen_c3469186_omim_235200_orphanet_465508 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFPT condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFPT Retinitis pigmentosa 11 mondo_mondo_0010828_medgen_c1838601_omim_600138_orphanet_791 MONDO:MONDO:0010828,MedGen:C1838601,OMIM:600138,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFPT Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFG Amyotrophic Lateral Sclerosis with Sensory Neuropathy amyotrophic_lateral_sclerosis_with_sensory_neuropathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFE3 Renal cell carcinoma human_phenotype_ontology_hp_0005584_human_phenotype_ontology_hp_0006720_mondo_mondo_0005086_mesh_d002292_medgen_c0007134_orphanet_217071 Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFE3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFE3 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFE3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFCP2L1 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2B TFAP2B-related congenital heart disease spectrum disorder mondo_mondo_1010098_medgen_cn379031 MONDO:MONDO:1010098,MedGen:CN379031 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2B Chronic intestinal pseudoobstruction mondo_mondo_0017574_medgen_c0238062_orphanet_2978 MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Short neck human_phenotype_ontology_hp_0000470_human_phenotype_ontology_hp_0005992_human_phenotype_ontology_hp_0200137_medgen_c0521525 Human_Phenotype_Ontology:HP:0000470,Human_Phenotype_Ontology:HP:0005992,Human_Phenotype_Ontology:HP:0200137,MedGen:C0521525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Melnick-Fraser syndrome mondo_mondo_0007029_medgen_c0265234_omim_ps113650_orphanet_107 MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Lens subluxation human_phenotype_ontology_hp_0001132_mondo_mondo_0001271_medgen_c0023316 Human_Phenotype_Ontology:HP:0001132,MONDO:MONDO:0001271,MedGen:C0023316 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Iris coloboma human_phenotype_ontology_hp_0000612_mondo_mondo_0020356_medgen_c0240063_orphanet_98944 Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A High palate human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Esotropia human_phenotype_ontology_hp_0000565_mondo_mondo_0004896_medgen_c0014877 Human_Phenotype_Ontology:HP:0000565,MONDO:MONDO:0004896,MedGen:C0014877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Chromatinopathy chromatinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Amblyopia human_phenotype_ontology_hp_0000646_mondo_mondo_0001020_medgen_c0002418 Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Abnormality of visual evoked potentials human_phenotype_ontology_hp_0000649_medgen_c0522214 Human_Phenotype_Ontology:HP:0000649,MedGen:C0522214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TF Transferrin variant D1 transferrin_variant_d1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TF Transferrin variant Bv transferrin_variant_bv . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TF Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 mondo_mondo_0013756_medgen_c3280800_omim_614441_orphanet_2796 MONDO:MONDO:0013756,MedGen:C3280800,OMIM:614441,Orphanet:2796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX9 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX9 Situs inversus human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX15 TEX15-related disorder tex15_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX15 Oligosynaptic infertility mondo_mondo_0009776_medgen_c0403810_omim_258150 MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX15 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX14 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX12 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEX12 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency mondo_mondo_0009863_medgen_c0878676_omim_261640_orphanet_13_orphanet_238583 MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:13,Orphanet:238583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET3 TET3-related Beck-Fahrner syndrome tet3_related_beck_fahrner_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET3 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 Third degree atrioventricular block human_phenotype_ontology_hp_0001709_mondo_mondo_0000468_medgen_c0151517 Human_Phenotype_Ontology:HP:0001709,MONDO:MONDO:0000468,MedGen:C0151517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET2 Clonal hematopoiesis mondo_mondo_0100542_medgen_c5206406 MONDO:MONDO:0100542,MedGen:C5206406 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Premature graying of hair human_phenotype_ontology_hp_0002216_medgen_c0263498 Human_Phenotype_Ontology:HP:0002216,MedGen:C0263498 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Melanoma, cutaneous malignant, susceptibility to, 9 mondo_mondo_0014056_medgen_c3554574_omim_615134_orphanet_618 MONDO:MONDO:0014056,MedGen:C3554574,OMIM:615134,Orphanet:618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Macrocytic anemia human_phenotype_ontology_hp_0001972_mondo_mondo_0002281_medgen_c0002886 Human_Phenotype_Ontology:HP:0001972,MONDO:MONDO:0002281,MedGen:C0002886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Lung sarcomatoid carcinoma mondo_mondo_0006279_medgen_c1708781 MONDO:MONDO:0006279,MedGen:C1708781 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Hoyeraal-Hreidarsson syndrome mondo_mondo_0018045_medgen_c1846142_orphanet_3322 MONDO:MONDO:0018045,MedGen:C1846142,Orphanet:3322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Developmental and epileptic encephalopathy, 18 mondo_mondo_0014201_medgen_c3809624_omim_615476_orphanet_369894 MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERF2IP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERC TERC-related disorder terc_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERC Interstitial lung disease 2 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERB2 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERB1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERB1 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENT5A Pyloric stenosis mondo_mondo_0001561_medgen_c0034194 MONDO:MONDO:0001561,MedGen:C0034194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENT5A Esophageal atresia human_phenotype_ontology_hp_0002032_mondo_mondo_0001044_mesh_d004933_medgen_c0014850 Human_Phenotype_Ontology:HP:0002032,MONDO:MONDO:0001044,MeSH:D004933,MedGen:C0014850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENM4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENM3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TENM1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TELO2 TELO2-related disorder telo2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Ventricular septal defect human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Vascular skin disorders vascular_skin_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK TEK-related disorder tek_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Bockenheimer syndrome mondo_mondo_0016311_medgen_c5679814_orphanet_217008 MONDO:MONDO:0016311,MedGen:C5679814,Orphanet:217008 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Arteriovenous malformation human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Meniere disease mondo_mondo_0007972_medgen_c0025281_omim_156000 MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECRL Catecholaminergic polymorphic ventricular tachycardia mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECPR2 Sensory autonomic neuropathy with intellectual disability sensory_autonomic_neuropathy_with_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECPR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECPR2 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECPR1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECPR1 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEC condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEAD3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEAD3 Retinitis pigmentosa 14 mondo_mondo_0010827_medgen_c1838603_omim_600132_orphanet_791 MONDO:MONDO:0010827,MedGen:C1838603,OMIM:600132,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEAD3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEAD3 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEAD1 Helicoid peripapillary chorioretinal degeneration mondo_mondo_0007176_medgen_c1862382_omim_108985_orphanet_86813 MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985,Orphanet:86813 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDRKH Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDRD1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TDP2 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN3 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 TCTN2-related disorder tctn2_related_disorder MedGen:CN239412 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN1 Typical Joubert syndrome MRI findings typical_joubert_syndrome_mri_findings MedGen:CN228298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCOF1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant mondo_mondo_0013071_medgen_c2751807_omim_612998_orphanet_261 MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCN2 Pancytopenia human_phenotype_ontology_hp_0001876_mondo_mondo_0001529_medgen_c0030312 Human_Phenotype_Ontology:HP:0001876,MONDO:MONDO:0001529,MedGen:C0030312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCN2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 Dysosteosclerosis mondo_mondo_0009138_mesh_c562973_medgen_c0432262_omim_224300_orphanet_1782 MONDO:MONDO:0009138,MeSH:C562973,MedGen:C0432262,OMIM:224300,Orphanet:1782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 Chorea-acanthocytosis mondo_mondo_0008695_medgen_c0393576_omim_200150_orphanet_2388 MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 Autosomal recessive osteopetrosis mondo_mondo_0019026_medgen_c4272578_omim_ps259700_orphanet_667 MONDO:MONDO:0019026,MedGen:C4272578,OMIM:PS259700,Orphanet:667 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF7L2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF7L2 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF7L2 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Short nose human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Severe intellectual deficiency severe_intellectual_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Hereditary spastic paraplegia 4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Feeding difficulties in infancy human_phenotype_ontology_hp_0002016_human_phenotype_ontology_hp_0002022_human_phenotype_ontology_hp_0002568_human_phenotype_ontology_hp_0008872_medgen_c2674608 Human_Phenotype_Ontology:HP:0002016,Human_Phenotype_Ontology:HP:0002022,Human_Phenotype_Ontology:HP:0002568,Human_Phenotype_Ontology:HP:0008872,MedGen:C2674608 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Drooling human_phenotype_ontology_hp_0002307_medgen_c0013132 Human_Phenotype_Ontology:HP:0002307,MedGen:C0013132 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Cerebral hypoplasia human_phenotype_ontology_hp_0006872_medgen_c1855330 Human_Phenotype_Ontology:HP:0006872,MedGen:C1855330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Anteverted nares human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF3 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Myoclonus human_phenotype_ontology_hp_0001336_human_phenotype_ontology_hp_0002535_human_phenotype_ontology_hp_0007087_medgen_c0027066 Human_Phenotype_Ontology:HP:0001336,Human_Phenotype_Ontology:HP:0002535,Human_Phenotype_Ontology:HP:0007087,MedGen:C0027066 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Hypotelorism human_phenotype_ontology_hp_0000601_human_phenotype_ontology_hp_0007877_medgen_c0424711 Human_Phenotype_Ontology:HP:0000601,Human_Phenotype_Ontology:HP:0007877,MedGen:C0424711 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Coronal craniosynostosis human_phenotype_ontology_hp_0002675_human_phenotype_ontology_hp_0002685_human_phenotype_ontology_hp_0002739_human_phenotype_ontology_hp_0004440_human_phenotype_ontology_hp_0004441_medgen_c1856266 Human_Phenotype_Ontology:HP:0002675,Human_Phenotype_Ontology:HP:0002685,Human_Phenotype_Ontology:HP:0002739,Human_Phenotype_Ontology:HP:0004440,Human_Phenotype_Ontology:HP:0004441,MedGen:C1856266 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 Common craniosynostosis syndromes common_craniosynostosis_syndromes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCERG1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCEAL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCAP Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCAP Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXT condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXT Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome mondo_mondo_0014314_medgen_c3810343_omim_615709_orphanet_397927 MONDO:MONDO:0014314,MedGen:C3810343,OMIM:615709,Orphanet:397927 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXAS1 Thromboxane synthetase deficiency mondo_mondo_0013597_medgen_c0398635_omim_614158 MONDO:MONDO:0013597,MedGen:C0398635,OMIM:614158 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXAS1 TBXAS1-related disorder tbxas1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXA2R condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBXA2R Abnormal platelet aggregation human_phenotype_ontology_hp_0030402_medgen_c0541767 Human_Phenotype_Ontology:HP:0030402,MedGen:C0541767 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX6 Spondylocostal dysostosis 2, autosomal recessive mondo_mondo_0012097_medgen_c1837549_omim_608681_orphanet_2311 MONDO:MONDO:0012097,MedGen:C1837549,OMIM:608681,Orphanet:2311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Ventricular septal defect human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Thumb deformity human_phenotype_ontology_hp_0001172_mondo_mondo_0008561_medgen_c0575897_omim_188100 Human_Phenotype_Ontology:HP:0001172,MONDO:MONDO:0008561,MedGen:C0575897,OMIM:188100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Small thenar eminence human_phenotype_ontology_hp_0001245_human_phenotype_ontology_hp_0006188_medgen_c1846474 Human_Phenotype_Ontology:HP:0001245,Human_Phenotype_Ontology:HP:0006188,MedGen:C1846474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Mitral regurgitation human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Familial atrioventricular septal defect mondo_mondo_0020290_medgen_cn029142_omim_ps606215_orphanet_98722 MONDO:MONDO:0020290,MedGen:CN029142,OMIM:PS606215,Orphanet:98722 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Clubbing of fingers human_phenotype_ontology_hp_0100759_medgen_c0009080 Human_Phenotype_Ontology:HP:0100759,MedGen:C0009080 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Blue nevus human_phenotype_ontology_hp_0100814_mondo_mondo_0006680_medgen_c0206736 Human_Phenotype_Ontology:HP:0100814,MONDO:MONDO:0006680,MedGen:C0206736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Atrial septal defect, ostium secundum type human_phenotype_ontology_hp_0001684_human_phenotype_ontology_hp_0200131_mondo_mondo_0020434_medgen_c0344724_orphanet_99103 Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:99103 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Atrial septal defect 1 mondo_mondo_0007172_medgen_c1862389_omim_108800_orphanet_1478 MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Abnormal radial ray morphology human_phenotype_ontology_hp_0410049_medgen_c4228778 Human_Phenotype_Ontology:HP:0410049,MedGen:C4228778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Pulmonary hypoplasia human_phenotype_ontology_hp_0002089_mondo_mondo_0800133_medgen_c0265783 Human_Phenotype_Ontology:HP:0002089,MONDO:MONDO:0800133,MedGen:C0265783 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Primary pulmonary hypoplasia mondo_mondo_0009936_medgen_c0456891_omim_265430_orphanet_2257 MONDO:MONDO:0009936,MedGen:C0456891,OMIM:265430,Orphanet:2257 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Hypoplastic left heart syndrome human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Hydroureter human_phenotype_ontology_hp_0000072_human_phenotype_ontology_hp_0006003_medgen_c0521620 Human_Phenotype_Ontology:HP:0000072,Human_Phenotype_Ontology:HP:0006003,MedGen:C0521620 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Hydronephrosis human_phenotype_ontology_hp_0000126_mondo_mondo_0005510_medgen_c0020295 Human_Phenotype_Ontology:HP:0000126,MONDO:MONDO:0005510,MedGen:C0020295 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Aplasia/hypoplasia involving bones of the lower limbs human_phenotype_ontology_hp_0006493_medgen_c4025037 Human_Phenotype_Ontology:HP:0006493,MedGen:C4025037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Absence of the sacrum human_phenotype_ontology_hp_0010305_medgen_c0344490 Human_Phenotype_Ontology:HP:0010305,MedGen:C0344490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX21 Immunodeficiency 88 mondo_mondo_0030483_medgen_c5562026_omim_619630 MONDO:MONDO:0030483,MedGen:C5562026,OMIM:619630 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX20 Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX20 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX20 Hypoplastic right heart syndrome mondo_mondo_0020291_medgen_c0344963_orphanet_98723 MONDO:MONDO:0020291,MedGen:C0344963,Orphanet:98723 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX20 Hypoplastic left heart syndrome human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX20 Aortic valve disease 1 mondo_mondo_0024523_medgen_c3887892_omim_109730 MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX19 TBX19-related disorder tbx19_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX19 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 KBG syndrome mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBRG1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Limb myoclonus human_phenotype_ontology_hp_0045084_medgen_c4477055 Human_Phenotype_Ontology:HP:0045084,MedGen:C4477055 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies mondo_mondo_0032864_medgen_c5231456_omim_618672 MONDO:MONDO:0032864,MedGen:C5231456,OMIM:618672 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Inflexible adherence to routines human_phenotype_ontology_hp_0000732_medgen_c5826341 Human_Phenotype_Ontology:HP:0000732,MedGen:C5826341 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Hypoplastic hippocampus human_phenotype_ontology_hp_0025517_medgen_c4476822 Human_Phenotype_Ontology:HP:0025517,MedGen:C4476822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Hypoplastic anterior commissure human_phenotype_ontology_hp_0030303_medgen_c4022524 Human_Phenotype_Ontology:HP:0030303,MedGen:C4022524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Hypoplasia of the frontal lobes human_phenotype_ontology_hp_0002424_human_phenotype_ontology_hp_0007333_medgen_c1849172 Human_Phenotype_Ontology:HP:0002424,Human_Phenotype_Ontology:HP:0007333,MedGen:C1849172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Gait ataxia human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Focal cortical dysplasia human_phenotype_ontology_hp_0032046_medgen_c2938983 Human_Phenotype_Ontology:HP:0032046,MedGen:C2938983 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Cortical dysplasia human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Aplasia/Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0007003_human_phenotype_ontology_hp_0007060_human_phenotype_ontology_hp_0007061_human_phenotype_ontology_hp_0007137_human_phenotype_ontology_hp_0007370_medgen_c1861866 Human_Phenotype_Ontology:HP:0007003,Human_Phenotype_Ontology:HP:0007060,Human_Phenotype_Ontology:HP:0007061,Human_Phenotype_Ontology:HP:0007137,Human_Phenotype_Ontology:HP:0007370,MedGen:C1861866 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Abnormal brainstem MRI signal intensity human_phenotype_ontology_hp_0012747_medgen_c4022749 Human_Phenotype_Ontology:HP:0012747,MedGen:C4022749 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 Conotruncal heart malformations mondo_mondo_0016581_medgen_c1857586_omim_217095_orphanet_2445_orphanet_3384_orphanet_3426 MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1X Hypothyroidism, congenital, nongoitrous, 8 mondo_mondo_0026731_medgen_c5231395_omim_301033 MONDO:MONDO:0026731,MedGen:C5231395,OMIM:301033 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Primary progressive non fluent aphasia mondo_mondo_0015059_medgen_c0751706_orphanet_100070 MONDO:MONDO:0015059,MedGen:C0751706,Orphanet:100070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Primary open angle glaucoma mondo_mondo_0100553_medgen_c0339573_omim_137760 MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Motor neuron disease mondo_mondo_0020128_medgen_c0085084_orphanet_98503 MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Herpes simplex encephalitis, susceptibility to, 1 mondo_mondo_0024563_medgen_c2750180_omim_610551_orphanet_1930 MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Corticobasal syndrome mondo_mondo_0018696_medgen_c5575119_orphanet_454887 MONDO:MONDO:0018696,MedGen:C5575119,Orphanet:454887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Ventral septal defect medgen_c3278382 MedGen:C3278382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 mondo_mondo_0024567_medgen_c3809454_omim_615419_orphanet_371364_orphanet_700336 MONDO:MONDO:0024567,MedGen:C3809454,OMIM:615419,Orphanet:371364,Orphanet:700336 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Dysmorphism medgen_c1737329 MedGen:C1737329 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Delayed reflexes delayed_reflexes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCE Disorder of sexual differentiation mondo_mondo_0002145_medgen_c2930619_orphanet_90771 MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCD Seborrhea-like dermatitis with psoriasiform elements mondo_mondo_0012446_medgen_c1853258_omim_610227_orphanet_168606 MONDO:MONDO:0012446,MedGen:C1853258,OMIM:610227,Orphanet:168606 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 TBC1D32-related disorder tbc1d32_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 Joubert syndrome 36 mondo_mondo_0032902_medgen_c5231493_omim_618763 MONDO:MONDO:0032902,MedGen:C5231493,OMIM:618763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 Isolated optic nerve hypoplasia mondo_mondo_0008136_medgen_c1833797_omim_165550_orphanet_637061 MONDO:MONDO:0008136,MedGen:C1833797,OMIM:165550,Orphanet:637061 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 Hypopituitarism human_phenotype_ontology_hp_0040075_mondo_mondo_0005152_medgen_c0020635 Human_Phenotype_Ontology:HP:0040075,MONDO:MONDO:0005152,MedGen:C0020635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D32 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D31 Inherited genitourinary tract anomalies medgen_c1844502_omim_305690 MedGen:C1844502,OMIM:305690 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D25 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 developmental delay with seizures developmental_delay_with_seizures . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Movement disorder human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D23 HP:0000750; HP:0001263 hp_0000750_hp_0001263 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D20 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBATA Hirschsprung disease, susceptibility to, 1 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TASP1 Happy demeanor human_phenotype_ontology_hp_0040082_medgen_c1856115 Human_Phenotype_Ontology:HP:0040082,MedGen:C1856115 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TASP1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TASP1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARS1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARDBP Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPBPL VAMP1-related disorder vamp1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPBPL Houge-Janssens syndrome 2 mondo_mondo_0014605_medgen_c4225352_omim_616362_orphanet_457284 MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAPBP MHC class I deficiency 3 mondo_mondo_0971012_medgen_c5935618_omim_620814 MONDO:MONDO:0971012,MedGen:C5935618,OMIM:620814 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK2 TAOK2-associated neurodevelopmental disorder taok2_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Short 5th finger human_phenotype_ontology_hp_0001205_human_phenotype_ontology_hp_0004208_human_phenotype_ontology_hp_0004210_human_phenotype_ontology_hp_0004211_human_phenotype_ontology_hp_0004215_human_phenotype_ontology_hp_0004217_human_phenotype_ontology_hp_0005804_human_phenotype_ontology_hp_0005888_human_phenotype_ontology_hp_0009237_medgen_c1842878 Human_Phenotype_Ontology:HP:0001205,Human_Phenotype_Ontology:HP:0004208,Human_Phenotype_Ontology:HP:0004210,Human_Phenotype_Ontology:HP:0004211,Human_Phenotype_Ontology:HP:0004215,Human_Phenotype_Ontology:HP:0004217,Human_Phenotype_Ontology:HP:0005804,Human_Phenotype_Ontology:HP:0005888,Human_Phenotype_Ontology:HP:0009237,MedGen:C1842878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Macroglossia human_phenotype_ontology_hp_0000158_human_phenotype_ontology_hp_0000203_mondo_mondo_0015496_medgen_c0024421_orphanet_156207 Human_Phenotype_Ontology:HP:0000158,Human_Phenotype_Ontology:HP:0000203,MONDO:MONDO:0015496,MedGen:C0024421,Orphanet:156207 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Global developmental delay with or without impaired intellectual development mondo_mondo_0032680_medgen_c5193032_omim_618330 MONDO:MONDO:0032680,MedGen:C5193032,OMIM:618330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Abnormality of the face human_phenotype_ontology_hp_0000271_medgen_c4025871 Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 TANGO2-related disorder tango2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration metabolic_crises_with_rhabdomyolysis_cardiac_arrhythmias_and_neurodegeneration . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANGO2 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 TANC2-related disorder tanc2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 Intellectual Disability with multiple congenital anomalies intellectual_disability_with_multiple_congenital_anomalies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES intellectual_developmental_disorder_with_autistic_features_and_language_delay_with_seizures . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAFAZZIN Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAFAZZIN Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF8 TAF8-related disorder taf8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF8 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF8 Partial agenesis of the corpus callosum human_phenotype_ontology_hp_0001338_human_phenotype_ontology_hp_0006982_human_phenotype_ontology_hp_0007090_human_phenotype_ontology_hp_0007128_medgen_c0431368 Human_Phenotype_Ontology:HP:0001338,Human_Phenotype_Ontology:HP:0006982,Human_Phenotype_Ontology:HP:0007090,Human_Phenotype_Ontology:HP:0007128,MedGen:C0431368 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF8 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF7L Spermatogenic failure, X-linked, 7 mondo_mondo_0957202_medgen_c5829567_omim_301106 MONDO:MONDO:0957202,MedGen:C5829567,OMIM:301106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF6 Cornelia de Lange syndrome 1 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF4B Spermatogenic failure 13 mondo_mondo_0014365_medgen_c4014449_omim_615841 MONDO:MONDO:0014365,MedGen:C4014449,OMIM:615841 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF4 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 TAF1-related syndromic intellectual disability taf1_related_syndromic_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 TAF1-related disorder taf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 Speech and developmental delays speech_and_developmental_delays . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACR3 Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACR3 Delayed puberty human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACR3 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACR3 Absence of pubertal development human_phenotype_ontology_hp_0008197_medgen_c1846228 Human_Phenotype_Ontology:HP:0008197,MedGen:C1846228 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TACO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAC3 Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAC3 Hypogonadotropic hypogonadism 10 with or without anosmia mondo_mondo_0013912_medgen_c3553843_omim_614839_orphanet_432 MONDO:MONDO:0013912,MedGen:C3553843,OMIM:614839,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAC3 HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA medgen_c4016274 MedGen:C4016274 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAC3 Delayed puberty human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Stress urinary incontinence human_phenotype_ontology_hp_0010992_medgen_c0042025 Human_Phenotype_Ontology:HP:0010992,MedGen:C0042025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Rectal prolapse human_phenotype_ontology_hp_0002035_mondo_mondo_0004754_medgen_c0034888 Human_Phenotype_Ontology:HP:0002035,MONDO:MONDO:0004754,MedGen:C0034888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Polyvalvular heart disease syndrome mondo_mondo_0016460_medgen_c4509918_orphanet_228410 MONDO:MONDO:0016460,MedGen:C4509918,Orphanet:228410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Migraine human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation mondo_mondo_0971094_medgen_c5925073_orphanet_664401 MONDO:MONDO:0971094,MedGen:C5925073,Orphanet:664401 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Bicuspid aortic valve human_phenotype_ontology_hp_0001647_medgen_c0149630 Human_Phenotype_Ontology:HP:0001647,MedGen:C0149630 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Atrial septal defect, ostium secundum type human_phenotype_ontology_hp_0001684_human_phenotype_ontology_hp_0200131_mondo_mondo_0020434_medgen_c0344724_orphanet_99103 Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:99103 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SZT2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SZT2 Hereditary spherocytosis type 3 mondo_mondo_0010053_medgen_c2678338_omim_270970_orphanet_822 MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYTL5 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT2 SYT2-related disorder syt2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT2 Respiratory distress human_phenotype_ontology_hp_0002098_human_phenotype_ontology_hp_0002880_medgen_c0476273 Human_Phenotype_Ontology:HP:0002098,Human_Phenotype_Ontology:HP:0002880,MedGen:C0476273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT2 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT2 Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT14 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT14 Autosomal recessive spinocerebellar ataxia 11 mondo_mondo_0013645_medgen_c5190803_omim_614229_orphanet_284271 MONDO:MONDO:0013645,MedGen:C5190803,OMIM:614229,Orphanet:284271 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT1 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYT1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYP Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNJ1 Young-onset Parkinson disease mondo_mondo_0017279_medgen_c4275179_orphanet_2828 MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNJ1 SYNJ1-related disorder synj1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNJ1 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Wide nasal bridge human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Triangular face human_phenotype_ontology_hp_0000325_human_phenotype_ontology_hp_0004645_human_phenotype_ontology_hp_0004662_human_phenotype_ontology_hp_0004668_medgen_c1835884 Human_Phenotype_Ontology:HP:0000325,Human_Phenotype_Ontology:HP:0004645,Human_Phenotype_Ontology:HP:0004662,Human_Phenotype_Ontology:HP:0004668,MedGen:C1835884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 SYNGAP1-related encephalopathy syngap1_related_encephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 SYNGAP1-related complex neurodevelopmental disorder syngap1_related_complex_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Pointed chin human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Intellectual disability, autosomal recessive 5 mondo_mondo_0012613_medgen_c1970199_omim_611091_orphanet_88616 MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Infantile epileptic dyskinetic encephalopathy mondo_mondo_0018226_medgen_c4552072_orphanet_364063 MONDO:MONDO:0018226,MedGen:C4552072,Orphanet:364063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Infantile epilepsy syndrome mondo_mondo_0020071_medgen_cn276928 MONDO:MONDO:0020071,MedGen:CN276928 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 High forehead human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Floppy infant human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Bulbous tips of toes human_phenotype_ontology_hp_0001782_medgen_c4025747 Human_Phenotype_Ontology:HP:0001782,MedGen:C4025747 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Autosomal dominant epilepsy autosomal_dominant_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Aggressive behavior human_phenotype_ontology_hp_0000718_human_phenotype_ontology_hp_0006919_medgen_c0001807 Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Abnormal sternum morphology human_phenotype_ontology_hp_0000766_human_phenotype_ontology_hp_0000780_human_phenotype_ontology_hp_0006586_human_phenotype_ontology_hp_0006594_human_phenotype_ontology_hp_0006605_human_phenotype_ontology_hp_0006630_human_phenotype_ontology_hp_0006708_medgen_c1860493 Human_Phenotype_Ontology:HP:0000766,Human_Phenotype_Ontology:HP:0000780,Human_Phenotype_Ontology:HP:0006586,Human_Phenotype_Ontology:HP:0006594,Human_Phenotype_Ontology:HP:0006605,Human_Phenotype_Ontology:HP:0006630,Human_Phenotype_Ontology:HP:0006708,MedGen:C1860493 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE4 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE2 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Third degree atrioventricular block human_phenotype_ontology_hp_0001709_mondo_mondo_0000468_medgen_c0151517 Human_Phenotype_Ontology:HP:0001709,MONDO:MONDO:0000468,MedGen:C0151517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Cleft lip/palate mondo_mondo_0016044_medgen_c0158646_orphanet_199306 MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Autosomal recessive cerebellar ataxia mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNCRIP SYNCRIP-related neurodevelopmental disorder mondo_mondo_0800456_medgen_cn376111 MONDO:MONDO:0800456,MedGen:CN376111 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNCRIP SYNCRIP-associated neurodevelopmental disorder syncrip_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN3 Cerebellar vermis atrophy human_phenotype_ontology_hp_0006855_human_phenotype_ontology_hp_0007121_human_phenotype_ontology_hp_0007312_medgen_c0742028 Human_Phenotype_Ontology:HP:0006855,Human_Phenotype_Ontology:HP:0007121,Human_Phenotype_Ontology:HP:0007312,MedGen:C0742028 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN1 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCP2L condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCP2 Spermatocyte maturation arrest human_phenotype_ontology_hp_0031039_medgen_c4476925 Human_Phenotype_Ontology:HP:0031039,MedGen:C4476925 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYCP2 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVIL Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVBP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVBP SVBP-related disorder svbp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SVBP Neurodevelopmental disorder with ataxia neurodevelopmental_disorder_with_ataxia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SV2A condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUZ12 SUZ12-related disorder suz12_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUZ12 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUZ12 Acute megakaryoblastic leukemia in down syndrome mondo_mondo_0020526_medgen_c5925108_orphanet_99887 MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Leigh syndrome due to mitochondrial complex IV deficiency medgen_c1850599 MedGen:C1850599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 mondo_mondo_0014051_medgen_c3554534_omim_615119_orphanet_1561 MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119,Orphanet:1561 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Abnormal pyramidal sign human_phenotype_ontology_hp_0003488_human_phenotype_ontology_hp_0007161_human_phenotype_ontology_hp_0007225_human_phenotype_ontology_hp_0007256_human_phenotype_ontology_hp_0007275_human_phenotype_ontology_hp_0007324_human_phenotype_ontology_hp_0007347_medgen_c0234132 Human_Phenotype_Ontology:HP:0003488,Human_Phenotype_Ontology:HP:0007161,Human_Phenotype_Ontology:HP:0007225,Human_Phenotype_Ontology:HP:0007256,Human_Phenotype_Ontology:HP:0007275,Human_Phenotype_Ontology:HP:0007324,Human_Phenotype_Ontology:HP:0007347,MedGen:C0234132 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUPT3H condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUPT3H Cleidocranial dysostosis mondo_mondo_0007340_medgen_c0008928_omim_119600_orphanet_1452 MONDO:MONDO:0007340,MedGen:C0008928,OMIM:119600,Orphanet:1452 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUMF2 Multiple sulfatase deficiency mondo_mondo_0010088_medgen_c0268263_omim_272200_orphanet_585 MONDO:MONDO:0010088,MedGen:C0268263,OMIM:272200,Orphanet:585 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUMF1 Spinocerebellar ataxia type 15/16 mondo_mondo_0011694_medgen_c1847725_omim_606658_orphanet_98769 MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658,Orphanet:98769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUMF1 SUMF1-related disorder sumf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SULT2B1 Autosomal recessive congenital ichthyosis 1 mondo_mondo_0009441_medgen_c4551630_omim_242300 MONDO:MONDO:0009441,MedGen:C4551630,OMIM:242300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU SUFU-related ocular motor apraxia sufu_related_ocular_motor_apraxia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Oculomotor apraxia human_phenotype_ontology_hp_0000628_human_phenotype_ontology_hp_0000657_human_phenotype_ontology_hp_0007764_medgen_c3489733 Human_Phenotype_Ontology:HP:0000628,Human_Phenotype_Ontology:HP:0000657,Human_Phenotype_Ontology:HP:0007764,MedGen:C3489733 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Congenital fibrosarcoma mondo_mondo_0004557_medgen_c0334459 MONDO:MONDO:0004557,MedGen:C0334459 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUCLA2 SUCLA2-related disorder sucla2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUCLA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP3 STXBP3-related disorders stxbp3_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 PET100-related disorder pet100_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 Congenital lactic acidosis human_phenotype_ontology_hp_0004902_medgen_c4025276 Human_Phenotype_Ontology:HP:0004902,MedGen:C4025276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Tremor human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Severe intellectual deficiency severe_intellectual_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 STXBP1-associated neurodevelopmental disorder stxbp1_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Non-syndromic intellectual disability mondo_mondo_0000509_medgen_cn280315 MONDO:MONDO:0000509,MedGen:CN280315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Moderate global developmental delay human_phenotype_ontology_hp_0011343_medgen_c2237142 Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Infantile spasms human_phenotype_ontology_hp_0012469_medgen_c3887898 Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Horizontal nystagmus human_phenotype_ontology_hp_0000666_medgen_c0271385 Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Hand tremor human_phenotype_ontology_hp_0002378_medgen_c0239842 Human_Phenotype_Ontology:HP:0002378,MedGen:C0239842 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Early onset epileptic encephalopathy early_onset_epileptic_encephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Axial hypotonia human_phenotype_ontology_hp_0002320_human_phenotype_ontology_hp_0008936_medgen_c1853743 Human_Phenotype_Ontology:HP:0002320,Human_Phenotype_Ontology:HP:0008936,MedGen:C1853743 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX7 Abnormality of neuronal migration human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX4 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX4 Hearing loss, autosomal recessive 123 mondo_mondo_0958277_medgen_c5935588_omim_620745 MONDO:MONDO:0958277,MedGen:C5935588,OMIM:620745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX3 Diarrhea 12, with microvillus atrophy mondo_mondo_0030335_medgen_c5561942_omim_619445 MONDO:MONDO:0030335,MedGen:C5561942,OMIM:619445 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1B Generalized epilepsy with febrile seizures plus mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1B Generalized epilepsy mondo_mondo_0100574_medgen_c0014548 MONDO:MONDO:0100574,MedGen:C0014548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1B Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1A Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STUB1 STUB1-related disorder stub1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STS STS-related disorder sts_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC nonsyndromic sensorineural hearing loss mesh_c537845_medgen_c1842137 MeSH:C537845,MedGen:C1842137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRA6 Microphthalmia, isolated, with coloboma 8 mondo_mondo_0800324_medgen_c3540845 MONDO:MONDO:0800324,MedGen:C3540845 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRA6 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STN1 Cerebroretinal microangiopathy with calcifications and cysts 2 mondo_mondo_0015026_medgen_c4479220_omim_617341 MONDO:MONDO:0015026,MedGen:C4479220,OMIM:617341 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STN1 Brain disorder mondo_mondo_0005560_medgen_c0006111 MONDO:MONDO:0005560,MedGen:C0006111 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK4 STK4-related disorder stk4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK4 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK36 Spermatogenic failure 18 mondo_mondo_0054615_medgen_c4539783_omim_617576 MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK33 Spermatogenic failure 93 mondo_mondo_0971000_medgen_c5935626_omim_620849 MONDO:MONDO:0971000,MedGen:C5935626,OMIM:620849 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK16 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK16 Spastic ataxia 11, autosomal dominant mondo_mondo_0979230_medgen_c6012733_omim_621226 MONDO:MONDO:0979230,MedGen:C6012733,OMIM:621226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK16 Amyotrophic lateral sclerosis type 22 mondo_mondo_0014531_medgen_c4015512_omim_616208_orphanet_803 MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Periorbital hyperpigmentation human_phenotype_ontology_hp_0001106_medgen_c1844606 Human_Phenotype_Ontology:HP:0001106,MedGen:C1844606 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Intestinal polyposis human_phenotype_ontology_hp_0200008_mondo_mondo_0024292_medgen_c1257915 Human_Phenotype_Ontology:HP:0200008,MONDO:MONDO:0024292,MedGen:C1257915 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Familial adenomatous polyposis 1 mondo_mondo_0021056_medgen_c2713442_omim_175100 MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STK11 Breast-ovarian cancer, familial, susceptibility to, 2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIM1 Myopathy, autophagic vacuolar, infantile-onset mondo_mondo_0012286_medgen_c2931230_omim_609500 MONDO:MONDO:0012286,MedGen:C2931230,OMIM:609500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIL STIL-related disorder stil_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIL Neutrophil inclusion bodies human_phenotype_ontology_hp_0001932_human_phenotype_ontology_hp_0008264_medgen_c4021547 Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIL Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIL Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT2 Pseudo-TORCH syndrome 3 mondo_mondo_0030044_medgen_c5394391_omim_618886 MONDO:MONDO:0030044,MedGen:C5394391,OMIM:618886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAP1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAMBP STAMBP-related disorder stambp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 STAG3-related disorder stag3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Hypomyelination and Congenital Cataract mondo_mondo_0012514_medgen_c1864663_omim_610532_orphanet_85163 MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532,Orphanet:85163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Female infertility human_phenotype_ontology_hp_0008222_mondo_mondo_0021124_medgen_c0021361 Human_Phenotype_Ontology:HP:0008222,MONDO:MONDO:0021124,MedGen:C0021361 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG3 Abnormality of the ovary human_phenotype_ontology_hp_0000137_mondo_mondo_0005558_medgen_c4021818 Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG2 X-linked STAG2-related disorders x_linked_stag2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAC3 STAC3-related disorder stac3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAC3 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAC2 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST7 Intractable seizure medgen_c2674422 MedGen:C2674422 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST7 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST7 Brain atrophy human_phenotype_ontology_hp_0012444_medgen_c4551584 Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST6GALNAC5 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL5 ST3GAL5-related disorder st3gal5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 ST3GAL3-related disorder st3gal3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Prolonged neonatal jaundice human_phenotype_ontology_hp_0000986_human_phenotype_ontology_hp_0006579_medgen_c1859236 Human_Phenotype_Ontology:HP:0000986,Human_Phenotype_Ontology:HP:0006579,MedGen:C1859236 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Frequent falls human_phenotype_ontology_hp_0002359_medgen_c0850703 Human_Phenotype_Ontology:HP:0002359,MedGen:C0850703 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL3 Aggressive behavior human_phenotype_ontology_hp_0000718_human_phenotype_ontology_hp_0006919_medgen_c0001807 Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST14 Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSX1 Synovial sarcoma human_phenotype_ontology_hp_0012570_mondo_mondo_0010434_medgen_c0039101_omim_300813_orphanet_3273 Human_Phenotype_Ontology:HP:0012570,MONDO:MONDO:0010434,MedGen:C0039101,OMIM:300813,Orphanet:3273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSUH2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSUH2 Rippling muscle disease 2 mondo_mondo_0019947_medgen_c1832560_omim_606072_orphanet_265 MONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072,Orphanet:265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSUH2 Long QT syndrome 9 mondo_mondo_0012736_medgen_c2678485_omim_611818_orphanet_101016_orphanet_768 MONDO:MONDO:0012736,MedGen:C2678485,OMIM:611818,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSUH2 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSUH2 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSUH2 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSUH2 Distal myopathy, Tateyama type mondo_mondo_0013686_medgen_c3280443_omim_614321_orphanet_488650 MONDO:MONDO:0013686,MedGen:C3280443,OMIM:614321,Orphanet:488650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSR3 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSBP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSBP1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SSBP1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRY Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRY 46,XY disorder of sex development mondo_mondo_0020040_medgen_c2751824_orphanet_98085 MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRY 46,XY TRUE HERMAPHRODITISM medgen_c2748897 MedGen:C2748897 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRSF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRSF2 Atypical chronic myeloid leukemia, BCR-ABL1 negative mondo_mondo_0004653_medgen_c1292772_orphanet_98824 MONDO:MONDO:0004653,MedGen:C1292772,Orphanet:98824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRSF2 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRSF2 Acute megakaryoblastic leukemia in down syndrome mondo_mondo_0020526_medgen_c5925108_orphanet_99887 MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRRM2 Status epilepticus human_phenotype_ontology_hp_0002133_medgen_c0038220 Human_Phenotype_Ontology:HP:0002133,MedGen:C0038220 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRRM2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRRM2 Complex febrile seizure human_phenotype_ontology_hp_0011172_medgen_c0751057 Human_Phenotype_Ontology:HP:0011172,MedGen:C0751057 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRPX2 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRPX2 Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked mondo_mondo_0010388_medgen_c1845070_omim_300643 MONDO:MONDO:0010388,MedGen:C1845070,OMIM:300643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRPX Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRPRA Shwachman-Diamond syndrome 1 mondo_mondo_0044204_medgen_c4692625_omim_260400 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRPRA Severe congenital neutropenia mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRPK3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRPK3 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRP68 Neutropenia, severe congenital, 10, autosomal recessive mondo_mondo_0957809_medgen_c5882756_omim_620534 MONDO:MONDO:0957809,MedGen:C5882756,OMIM:620534 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRP54 Ciliary dyskinesia, primary, 40 mondo_mondo_0032664_medgen_c4749028_omim_618300 MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRP19 Shwachman-Diamond syndrome 1 mondo_mondo_0044204_medgen_c4692625_omim_260400 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRP19 Severe congenital neutropenia mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRI Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRGAP3 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRGAP1 Thyroid cancer, nonmedullary, 2 mondo_mondo_0008566_medgen_c4225426_omim_188470 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Generalized arterial tortuosity human_phenotype_ontology_hp_0004955_medgen_c1836651 Human_Phenotype_Ontology:HP:0004955,MedGen:C1836651 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Familial aortopathy familial_aortopathy MedGen:CN078214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRFBP1 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A3 Abnormal optic nerve morphology human_phenotype_ontology_hp_0000587_medgen_c0029131 Human_Phenotype_Ontology:HP:0000587,MedGen:C0029131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A2 Urogenital tract malformation human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRC Thrombocytopenia 6 mondo_mondo_0014837_medgen_c4310789_omim_616937_orphanet_480851 MONDO:MONDO:0014837,MedGen:C4310789,OMIM:616937,Orphanet:480851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRC Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRC Primary myelofibrosis mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRC Osteoporosis human_phenotype_ontology_hp_0000939_human_phenotype_ontology_hp_0002774_mondo_mondo_0005298_medgen_c0029456_omim_166710 Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRC Colon cancer, advanced medgen_c4016406 MedGen:C4016406 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 SQSTM1-related multisystem proteinopathy mondo_mondo_0800464_medgen_cn375925 MONDO:MONDO:0800464,MedGen:CN375925 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 Neurodegeneration with ataxia neurodegeneration_with_ataxia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQLE Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTY2D1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTSSA Spastic paraplegia 90B, autosomal recessive mondo_mondo_0957309_medgen_c5830578_omim_620417 MONDO:MONDO:0957309,MedGen:C5830578,OMIM:620417 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTSSA Spastic paraplegia 90A, autosomal dominant mondo_mondo_0957308_medgen_c5830574_omim_620416 MONDO:MONDO:0957308,MedGen:C5830574,OMIM:620416 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC3 Sensory neuropathy human_phenotype_ontology_hp_0000763_human_phenotype_ontology_hp_0003410_human_phenotype_ontology_hp_0006815_human_phenotype_ontology_hp_0007043_human_phenotype_ontology_hp_0007142_mondo_mondo_0002321_medgen_c0151313 Human_Phenotype_Ontology:HP:0000763,Human_Phenotype_Ontology:HP:0003410,Human_Phenotype_Ontology:HP:0006815,Human_Phenotype_Ontology:HP:0007043,Human_Phenotype_Ontology:HP:0007142,MONDO:MONDO:0002321,MedGen:C0151313 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC3 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC2 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE medgen_c4016942 MedGen:C4016942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC2 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC2 Hereditary neuropathy or pain disorder hereditary_neuropathy_or_pain_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Sensorimotor neuropathy human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 SPTLC1-related disorder sptlc1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Ritscher-Schinzel syndrome 4 mondo_mondo_0030331_medgen_c5561939_omim_619435 MONDO:MONDO:0030331,MedGen:C5561939,OMIM:619435 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Proximal muscle weakness human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Proximal lower limb amyotrophy human_phenotype_ontology_hp_0003748_human_phenotype_ontology_hp_0008956_human_phenotype_ontology_hp_0008974_medgen_c1836767 Human_Phenotype_Ontology:HP:0003748,Human_Phenotype_Ontology:HP:0008956,Human_Phenotype_Ontology:HP:0008974,MedGen:C1836767 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Muscle spasm human_phenotype_ontology_hp_0003394_human_phenotype_ontology_hp_0009018_medgen_c0037763 Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Falls human_phenotype_ontology_hp_0002527_medgen_c0085639 Human_Phenotype_Ontology:HP:0002527,MedGen:C0085639 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 EMG abnormality human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTLC1 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN4 SPTBN4-related disorder sptbn4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN2 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 SPTBN1-related neurodevelopmental disease sptbn1_related_neurodevelopmental_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 SPTBN1-related disorder sptbn1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 Pervasive developmental disorder mondo_mondo_0000594_medgen_c0524528_orphanet_168778 MONDO:MONDO:0000594,MedGen:C0524528,Orphanet:168778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 Intellectual disability, autosomal recessive 53 mondo_mondo_0014832_medgen_c4310794_omim_616917_orphanet_488635 MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB Spherocytosis human_phenotype_ontology_hp_0004444_human_phenotype_ontology_hp_0004816_medgen_c0553720 Human_Phenotype_Ontology:HP:0004444,Human_Phenotype_Ontology:HP:0004816,MedGen:C0553720 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB Pyropoikilocytosis, hereditary human_phenotype_ontology_hp_0004805_human_phenotype_ontology_hp_0004839_mondo_mondo_0009948_medgen_c0520739_omim_266140 Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB Hemolytic anemia human_phenotype_ontology_hp_0001878_human_phenotype_ontology_hp_0001910_human_phenotype_ontology_hp_0004827_human_phenotype_ontology_hp_0004853_human_phenotype_ontology_hp_0004868_human_phenotype_ontology_hp_0005503_mondo_mondo_0003664_medgen_c0002878 Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB Chudley-McCullough syndrome mondo_mondo_0011411_medgen_c1858695_omim_604213_orphanet_314597 MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Undetermined early-onset epileptic encephalopathy mondo_mondo_0018614_medgen_c5680057_orphanet_442835 MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Syndromic X-linked intellectual disability Raymond type mondo_mondo_0010427_medgen_c3275406_omim_300799 MONDO:MONDO:0010427,MedGen:C3275406,OMIM:300799 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Distal lower limb muscle weakness human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Autosomal dominant SPTAN1-related disorders autosomal_dominant_sptan1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Prenatal anemia prenatal_anemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Lysinuric protein intolerance mondo_mondo_0009109_medgen_c0268647_omim_222700_orphanet_470 MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome mondo_mondo_0008278_medgen_c1832942_omim_175050_orphanet_2929 MONDO:MONDO:0008278,MedGen:C1832942,OMIM:175050,Orphanet:2929 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Autosomal recessive SPTA1-related disorders autosomal_recessive_spta1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRY4 Hypogonadotropic hypogonadism 17 with or without anosmia mondo_mondo_0014102_medgen_c3808971_omim_615266_orphanet_478 MONDO:MONDO:0014102,MedGen:C3808971,OMIM:615266,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRY1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRTN condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRTN Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRTN Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRTN Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 SPRED1-related disorder spred1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPR SPR-related disorder spr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPR Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPP2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOUT1 Undetermined early-onset epileptic encephalopathy mondo_mondo_0018614_medgen_c5680057_orphanet_442835 MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOP SPOP-related neurodevelopmental condition spop_related_neurodevelopmental_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOP SPOP-related disorder spop_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOP Nabais Sa-de Vries syndrome nabais_sa_de_vries_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPOP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPO11 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPNS2 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPNS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPNS2 Hearing loss, autosomal recessive 115 mondo_mondo_0032762_medgen_c5193108_omim_618457 MONDO:MONDO:0032762,MedGen:C5193108,OMIM:618457 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK5 Susceptibility to nonsyndromic otitis media susceptibility_to_nonsyndromic_otitis_media . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK2 Spermatogenic failure 29 mondo_mondo_0054733_medgen_c4748142_omim_618091 MONDO:MONDO:0054733,MedGen:C4748142,OMIM:618091 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK1 SPINK1-related disorder spink1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK1 Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK1 Chronic pancreatitis human_phenotype_ontology_hp_0006280_mondo_mondo_0005003_medgen_c0149521 Human_Phenotype_Ontology:HP:0006280,MONDO:MONDO:0005003,MedGen:C0149521 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPIN4 Lui-Jee-Baron syndrome mondo_mondo_0957919_medgen_c5882664_omim_301114 MONDO:MONDO:0957919,MedGen:C5882664,OMIM:301114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Spastic paraparesis human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Sensorimotor neuropathy human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Proximal spinal muscular atrophy human_phenotype_ontology_hp_0006959_mondo_mondo_0019079_medgen_c4024957_orphanet_70 Human_Phenotype_Ontology:HP:0006959,MONDO:MONDO:0019079,MedGen:C4024957,Orphanet:70 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Polyneuropathy human_phenotype_ontology_hp_0001271_human_phenotype_ontology_hp_0006941_human_phenotype_ontology_hp_0007287_mondo_mondo_0001824_medgen_c0152025 Human_Phenotype_Ontology:HP:0001271,Human_Phenotype_Ontology:HP:0006941,Human_Phenotype_Ontology:HP:0007287,MONDO:MONDO:0001824,MedGen:C0152025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Memory impairment human_phenotype_ontology_hp_0000747_human_phenotype_ontology_hp_0002081_human_phenotype_ontology_hp_0002354_medgen_c0233794 Human_Phenotype_Ontology:HP:0000747,Human_Phenotype_Ontology:HP:0002081,Human_Phenotype_Ontology:HP:0002354,MedGen:C0233794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Hereditary pancreatitis mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Gait ataxia human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome mondo_mondo_0014209_medgen_c3809665_omim_615491_orphanet_352654 MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491,Orphanet:352654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Cerebral cortical atrophy human_phenotype_ontology_hp_0002120_human_phenotype_ontology_hp_0006823_human_phenotype_ontology_hp_0006835_medgen_c4551583 Human_Phenotype_Ontology:HP:0002120,Human_Phenotype_Ontology:HP:0006823,Human_Phenotype_Ontology:HP:0006835,MedGen:C4551583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG21 SPG21-related disorder spg21_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Spastic paraparesis human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Hereditary neuropathy or pain disorder hereditary_neuropathy_or_pain_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Generalized hyperreflexia human_phenotype_ontology_hp_0007034_medgen_c4024949 Human_Phenotype_Ontology:HP:0007034,MedGen:C4024949 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Gait disturbance human_phenotype_ontology_hp_0001288_human_phenotype_ontology_hp_0006953_medgen_c0575081 Human_Phenotype_Ontology:HP:0001288,Human_Phenotype_Ontology:HP:0006953,MedGen:C0575081 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Early-onset Parkinson disease 20 mondo_mondo_0014233_medgen_c3809824_omim_615530_orphanet_391411 MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Cerebral amyloid angiopathy, APP-related mondo_mondo_0011583_medgen_c2751536_omim_605714_orphanet_100006_orphanet_324703_orphanet_324708_orphanet_324713_orphanet_324718_orphanet_324723_orphanet_85458 MONDO:MONDO:0011583,MedGen:C2751536,OMIM:605714,Orphanet:100006,Orphanet:324703,Orphanet:324708,Orphanet:324713,Orphanet:324718,Orphanet:324723,Orphanet:85458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPECC1L SPECC1L-related syndrome specc1l_related_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPECC1L Oculomaxillofacial dysostosis mondo_mondo_0015824_medgen_c1838348_omim_600251_orphanet_141258_orphanet_1794 MONDO:MONDO:0015824,MedGen:C1838348,OMIM:600251,Orphanet:141258,Orphanet:1794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPECC1 Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPDL1 Severe primary microcephaly severe_primary_microcephaly MedGen:CN228308 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPDL1 Neonatal death human_phenotype_ontology_hp_0003811_human_phenotype_ontology_hp_0003820_human_phenotype_ontology_hp_0003824_medgen_c0410916 Human_Phenotype_Ontology:HP:0003811,Human_Phenotype_Ontology:HP:0003820,Human_Phenotype_Ontology:HP:0003824,MedGen:C0410916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 Galactosylceramide beta-galactosidase deficiency mondo_mondo_0009499_medgen_c0023521_omim_245200_orphanet_487 MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 Spermatogenic failure 96 mondo_mondo_0975842_medgen_c5975503_omim_621001 MONDO:MONDO:0975842,MedGen:C5975503,OMIM:621001 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Tics human_phenotype_ontology_hp_0100033_mondo_mondo_0002420_medgen_c2169806 Human_Phenotype_Ontology:HP:0100033,MONDO:MONDO:0002420,MedGen:C2169806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Spastic diplegia human_phenotype_ontology_hp_0001264_medgen_c0023882 Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Pes valgus human_phenotype_ontology_hp_0008081_medgen_c1578482 Human_Phenotype_Ontology:HP:0008081,MedGen:C1578482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Hereditary spastic paraplegia 2 mondo_mondo_0010733_medgen_c0751604_omim_312920_orphanet_99015 MONDO:MONDO:0010733,MedGen:C0751604,OMIM:312920,Orphanet:99015 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Flexion contracture human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Fatigue human_phenotype_ontology_hp_0012378_medgen_c0015672 Human_Phenotype_Ontology:HP:0012378,MedGen:C0015672 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Abnormal myelination human_phenotype_ontology_hp_0012447_medgen_c1857704 Human_Phenotype_Ontology:HP:0012447,MedGen:C1857704 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPART Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPARCL1 Stromal corneal dystrophy mondo_mondo_0020213_medgen_c0038457_orphanet_98626 MONDO:MONDO:0020213,MedGen:C0038457,Orphanet:98626 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPARC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG17 Spermatogenic failure 55 mondo_mondo_0030307_medgen_c5543580_omim_619380 MONDO:MONDO:0030307,MedGen:C5543580,OMIM:619380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG17 Meniere disease mondo_mondo_0007972_medgen_c0025281_omim_156000 MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG17 Cranioectodermal dysplasia 2 mondo_mondo_0013323_medgen_c3150874_omim_613610_orphanet_1515 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG1 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPACA1 Spermatogenic failure 85 mondo_mondo_0957584_medgen_c5882685_omim_620490 MONDO:MONDO:0957584,MedGen:C5882685,OMIM:620490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 SP9-associated disorder sp9_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 Epileptic spasm human_phenotype_ontology_hp_0011097_medgen_c1527366 Human_Phenotype_Ontology:HP:0011097,MedGen:C1527366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 Convulsive status epilepticus human_phenotype_ontology_hp_0032660_medgen_c0311335 Human_Phenotype_Ontology:HP:0032660,MedGen:C0311335 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP9 Abnormal caudate nucleus morphology human_phenotype_ontology_hp_0002339_medgen_c4025711 Human_Phenotype_Ontology:HP:0002339,MedGen:C4025711 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP6 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 Bent bone dysplasia mondo_mondo_0019698_medgen_c0432238_orphanet_93439 MONDO:MONDO:0019698,MedGen:C0432238,Orphanet:93439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX6 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX6 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Thoracolumbar scoliosis human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Central hypotonia human_phenotype_ontology_hp_0011398_medgen_c1842364 Human_Phenotype_Ontology:HP:0011398,MedGen:C1842364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Aplasia/Hypoplasia of the nails human_phenotype_ontology_hp_0008385_human_phenotype_ontology_hp_0008386_medgen_c1859077 Human_Phenotype_Ontology:HP:0008385,Human_Phenotype_Ontology:HP:0008386,MedGen:C1859077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX4 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX30 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX3 X-linked intellectual disability with isolated growth hormone deficiency mondo_mondo_0019032_medgen_c1848068_orphanet_67045 MONDO:MONDO:0019032,MedGen:C1848068,Orphanet:67045 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX3 Panhypopituitarism, X-linked mondo_mondo_0010712_medgen_c0342376_omim_312000 MONDO:MONDO:0010712,MedGen:C0342376,OMIM:312000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX3 Intellectual disability, X-linked, with panhypopituitarism mondo_mondo_0010252_medgen_c2678223_omim_300123 MONDO:MONDO:0010252,MedGen:C2678223,OMIM:300123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 Septo-optic dysplasia sequence human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 Chorioretinal coloboma human_phenotype_ontology_hp_0000567_human_phenotype_ontology_hp_0000611_human_phenotype_ontology_hp_0007718_human_phenotype_ontology_hp_0007784_medgen_c0240896 Human_Phenotype_Ontology:HP:0000567,Human_Phenotype_Ontology:HP:0000611,Human_Phenotype_Ontology:HP:0007718,Human_Phenotype_Ontology:HP:0007784,MedGen:C0240896 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX17 Vesicoureteral reflux 3 mondo_mondo_0013356_medgen_c3150927_omim_613674_orphanet_289365 MONDO:MONDO:0013356,MedGen:C3150927,OMIM:613674,Orphanet:289365 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX17 Sox17- related disorders sox17_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX17 Pulmonary hypertension, primary, 7 mondo_mondo_0979237_medgen_c6012740_omim_621248 MONDO:MONDO:0979237,MedGen:C6012740,OMIM:621248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX17 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX11 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Waardenburg syndrome mondo_mondo_0018094_medgen_c3266898_omim_ps193500_orphanet_3440 MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Hirschsprung disease, susceptibility to, 1 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Aganglionic megacolon human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOST condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOST SOST-related disorder sost_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS2 SOS2-related disorder sos2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS2 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS2 Male infertility due to gonadal dysgenesis or sperm disorder medgen_c5680033_orphanet_399764 MedGen:C5680033,Orphanet:399764 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Pulmonic stenosis human_phenotype_ontology_hp_0001642_mondo_mondo_0009938_medgen_c1956257_omim_265500_orphanet_3189 Human_Phenotype_Ontology:HP:0001642,MONDO:MONDO:0009938,MedGen:C1956257,OMIM:265500,Orphanet:3189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Male subfertility male_subfertility . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Fetal cystic hygroma human_phenotype_ontology_hp_0010878_medgen_c0948242_omim_257350_orphanet_79486 Human_Phenotype_Ontology:HP:0010878,MedGen:C0948242,OMIM:257350,Orphanet:79486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Fetal anomalies with a likely genetic cause fetal_anomalies_with_a_likely_genetic_cause . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Abnormal sternum morphology human_phenotype_ontology_hp_0000766_human_phenotype_ontology_hp_0000780_human_phenotype_ontology_hp_0006586_human_phenotype_ontology_hp_0006594_human_phenotype_ontology_hp_0006605_human_phenotype_ontology_hp_0006630_human_phenotype_ontology_hp_0006708_medgen_c1860493 Human_Phenotype_Ontology:HP:0000766,Human_Phenotype_Ontology:HP:0000780,Human_Phenotype_Ontology:HP:0006586,Human_Phenotype_Ontology:HP:0006594,Human_Phenotype_Ontology:HP:0006605,Human_Phenotype_Ontology:HP:0006630,Human_Phenotype_Ontology:HP:0006708,MedGen:C1860493 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Abnormal aortic valve morphology human_phenotype_ontology_hp_0001646_medgen_c3164445 Human_Phenotype_Ontology:HP:0001646,MedGen:C3164445 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 46,XY partial gonadal dysgenesis mondo_mondo_0016674_medgen_c4510744_orphanet_251510 MONDO:MONDO:0016674,MedGen:C4510744,Orphanet:251510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORL1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORL1 Complex hereditary spastic paraplegia mondo_mondo_0015150_medgen_c0393556_orphanet_102013 MONDO:MONDO:0015150,MedGen:C0393556,Orphanet:102013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORD Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORD Idiopathic environmental intolerance medgen_c0242992 MedGen:C0242992 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SORCS1 Alzheimer disease 6 mondo_mondo_0011561_medgen_c1854187_omim_605526_orphanet_1020 MONDO:MONDO:0011561,MedGen:C1854187,OMIM:605526,Orphanet:1020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON Hereditary spastic paraplegia 17 mondo_mondo_0010043_medgen_c2931276_omim_270685_orphanet_100998 MONDO:MONDO:0010043,MedGen:C2931276,OMIM:270685,Orphanet:100998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOHLH1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOHLH1 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 Limb muscle weakness human_phenotype_ontology_hp_0002534_human_phenotype_ontology_hp_0003690_medgen_c0587246 Human_Phenotype_Ontology:HP:0002534,Human_Phenotype_Ontology:HP:0003690,MedGen:C0587246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 Amyotrophic lateral sclerosis type 10 mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 Amyotrophic lateral sclerosis 1, autosomal recessive medgen_c5686324 MedGen:C5686324 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOCS1 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOCS1 Autoimmune thrombocytopenic purpura mondo_mondo_0008558_medgen_c0398650_omim_188030_orphanet_3002 MONDO:MONDO:0008558,MedGen:C0398650,OMIM:188030,Orphanet:3002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 Spinocerebellar atrophy human_phenotype_ontology_hp_0007263_mesh_d020754_medgen_c0087012 Human_Phenotype_Ontology:HP:0007263,MeSH:D020754,MedGen:C0087012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX10 Osteopetrosis human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNW1 SNW1-associated neurodevelopmental disorder snw1_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNURF Prader-Willi syndrome mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNUPN Muscular dystrophy, limb-girdle, autosomal recessive 29 mondo_mondo_0971171_medgen_c5935611_omim_620793 MONDO:MONDO:0971171,MedGen:C5935611,OMIM:620793 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPN Prader-Willi syndrome mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPE Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPB SNRPB-related disorder snrpb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPB Isolated Pierre-Robin syndrome human_phenotype_ontology_hp_0000201_mondo_mondo_0009869_medgen_c0031900_omim_261800_orphanet_718 Human_Phenotype_Ontology:HP:0000201,MONDO:MONDO:0009869,MedGen:C0031900,OMIM:261800,Orphanet:718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRPB Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNRNP200 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNORD118 Orofaciodigital syndrome 16 mondo_mondo_0033045_medgen_c4539729_omim_617563 MONDO:MONDO:0033045,MedGen:C4539729,OMIM:617563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNORD118 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism mondo_mondo_0013787_medgen_c3281055_omim_614501 MONDO:MONDO:0013787,MedGen:C3281055,OMIM:614501 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNCB Lewy body dementia mondo_mondo_0007488_medgen_c0752347_omim_127750 MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNCA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNCA Autosomal dominant Parkinson disease 4 mondo_mondo_0011562_medgen_c1854182_omim_605543_orphanet_411602 MONDO:MONDO:0011562,MedGen:C1854182,OMIM:605543,Orphanet:411602 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAPIN Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAPC4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP29 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Unilateral Hypotonia mesh_d009123_medgen_c0751330 MeSH:D009123,MedGen:C0751330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 SNAP25-related early-onset developmental and epileptic encephalopathy snap25_related_early_onset_developmental_and_epileptic_encephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 SNAP25-related disorder snap25_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 SNAP25-related developmental delays and epileptic encephalopathies snap25_related_developmental_delays_and_epileptic_encephalopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 SNAP25 related neurodevelopmental disorder snap25_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Presynaptic congenital myasthenic syndrome mondo_mondo_0700466_medgen_c0751884_orphanet_98914 MONDO:MONDO:0700466,MedGen:C0751884,Orphanet:98914 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Epilepsy with generalized tonic-clonic seizures mondo_mondo_0005754_mesh_d004830_medgen_c0014549_orphanet_698005 MONDO:MONDO:0005754,MeSH:D004830,MedGen:C0014549,Orphanet:698005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNAP25 Developmental and epileptic encephalopathy, 2 mondo_mondo_0010396_medgen_c4750718_omim_300672_orphanet_1934_orphanet_3451_orphanet_505652 MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMS Smith-Magenis syndrome mondo_mondo_0008434_medgen_c0795864_omim_182290_orphanet_819 MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMS Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPX X-linked deafness mondo_mondo_0020768_medgen_cn043651_omim_ps304500 MONDO:MONDO:0020768,MedGen:CN043651,OMIM:PS304500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPX SMPX-related disorder smpx_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPX Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 autosomal recessive SMPD1-related disorders autosomal_recessive_smpd1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Lysosomal storage disease mondo_mondo_0002561_medgen_c0085078_orphanet_68366 MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Ceroid lipofuscinosis, neuronal, 6A mondo_mondo_0011144_medgen_c5551375_omim_601780_orphanet_168491_orphanet_228363 MONDO:MONDO:0011144,MedGen:C5551375,OMIM:601780,Orphanet:168491,Orphanet:228363 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMOC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMO Curry-Jones syndrome mondo_mondo_0011134_medgen_c0795915_omim_601707_orphanet_1553 MONDO:MONDO:0011134,MedGen:C0795915,OMIM:601707,Orphanet:1553 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 Brainstem dysplasia human_phenotype_ontology_hp_0002508_human_phenotype_ontology_hp_0006991_medgen_c1855677 Human_Phenotype_Ontology:HP:0002508,Human_Phenotype_Ontology:HP:0006991,MedGen:C1855677 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG9 Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMG8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Short nose human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Proximal upper limb muscle weakness human_phenotype_ontology_hp_0008997_medgen_c1866012 Human_Phenotype_Ontology:HP:0008997,MedGen:C1866012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Muscular atrophy human_phenotype_ontology_hp_0001299_human_phenotype_ontology_hp_0003202_human_phenotype_ontology_hp_0003545_human_phenotype_ontology_hp_0003671_human_phenotype_ontology_hp_0003702_human_phenotype_ontology_hp_0003746_human_phenotype_ontology_hp_0006995_human_phenotype_ontology_hp_0007171_human_phenotype_ontology_hp_0007356_human_phenotype_ontology_hp_0009010_human_phenotype_ontology_hp_0009048_human_phenotype_ontology_hp_0100868_mondo_mondo_0004323_medgen_c0541794 Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Chédiak-Higashi syndrome mondo_mondo_0008963_medgen_c0007965_omim_214500_orphanet_167 MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Anosmia human_phenotype_ontology_hp_0000458_mondo_mondo_0010528_medgen_c0003126 Human_Phenotype_Ontology:HP:0000458,MONDO:MONDO:0010528,MedGen:C0003126 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC3 Wiedemann-Steiner syndrome mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC3 Cornelia de Lange syndrome 1 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1B Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Progressive sensorineural hearing impairment human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Hypertonia human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Hirsutism human_phenotype_ontology_hp_0001007_medgen_c0019572 Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A De Lange syndrome mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Cornelia de Lange syndrome 1 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Atypical Rett syndrome mondo_mondo_0017746_medgen_c2748910_orphanet_3095 MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:3095 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Abnormal heart valve morphology human_phenotype_ontology_hp_0001654_human_phenotype_ontology_hp_0001703_medgen_c0241654 Human_Phenotype_Ontology:HP:0001654,Human_Phenotype_Ontology:HP:0001703,MedGen:C0241654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCE1 Tessier cleft human_phenotype_ontology_hp_0002006_mondo_mondo_0015411_medgen_c0685787_orphanet_141229 Human_Phenotype_Ontology:HP:0002006,MONDO:MONDO:0015411,MedGen:C0685787,Orphanet:141229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCD2 SMARCD2-related disorder smarcd2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCD1 Alopecia, androgenetic, 1 mondo_mondo_0007184_medgen_c4049090_omim_109200 MONDO:MONDO:0007184,MedGen:C4049090,OMIM:109200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC2 SMARCC2-related disorder smarcc2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC2 Coffin-Siris syndrome 1 mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Teratoid tumor, atypical medgen_c1836326 MedGen:C1836326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Schwannomatosis 1, somatic medgen_c4016745 MedGen:C4016745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Schwannoma human_phenotype_ontology_hp_0100008_mondo_mondo_0002546_medgen_c0027809_orphanet_252164 Human_Phenotype_Ontology:HP:0100008,MONDO:MONDO:0002546,MedGen:C0027809,Orphanet:252164 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Peripheral schwannoma human_phenotype_ontology_hp_0009593_medgen_c4024276 Human_Phenotype_Ontology:HP:0009593,MedGen:C4024276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Malignant rhabdoid tumor, somatic medgen_c2750405 MedGen:C2750405 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 SMARCA5-related disorder smarca5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Pubertal developmental failure in females human_phenotype_ontology_hp_0008647_medgen_c4024649 Human_Phenotype_Ontology:HP:0008647,MedGen:C4024649 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Pes planus human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA5 Delayed CNS myelination human_phenotype_ontology_hp_0002188_human_phenotype_ontology_hp_0005770_human_phenotype_ontology_hp_0006974_human_phenotype_ontology_hp_0007300_medgen_c4021758 Human_Phenotype_Ontology:HP:0002188,Human_Phenotype_Ontology:HP:0005770,Human_Phenotype_Ontology:HP:0006974,Human_Phenotype_Ontology:HP:0007300,MedGen:C4021758 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Otosclerosis 12 mondo_mondo_0968980_medgen_c5935610_omim_620792 MONDO:MONDO:0968980,MedGen:C5935610,OMIM:620792 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Neuroblastoma human_phenotype_ontology_hp_0003006_human_phenotype_ontology_hp_0006738_mondo_mondo_0005072_mesh_d009447_medgen_c0027819_orphanet_635 Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Childhood neoplasm mondo_mondo_0021079_medgen_c1368871 MONDO:MONDO:0021079,MedGen:C1368871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Pituitary stalk interruption syndrome mondo_mondo_0019828_medgen_c4053775_orphanet_95496 MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Hirsutism human_phenotype_ontology_hp_0001007_medgen_c0019572 Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Blepharophimosis - intellectual disability syndrome mondo_mondo_0017393_medgen_c5229849_orphanet_293642 MONDO:MONDO:0017393,MedGen:C5229849,Orphanet:293642 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Blepharophimosis human_phenotype_ontology_hp_0000507_human_phenotype_ontology_hp_0000513_human_phenotype_ontology_hp_0000581_mondo_mondo_0001008_medgen_c0005744 Human_Phenotype_Ontology:HP:0000507,Human_Phenotype_Ontology:HP:0000513,Human_Phenotype_Ontology:HP:0000581,MONDO:MONDO:0001008,MedGen:C0005744 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Autosomal dominant epilepsy autosomal_dominant_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAP1 Developmental and epileptic encephalopathy, 54 mondo_mondo_0033363_medgen_c4479319_omim_617391 MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD9 Pulmonary arterial hypertension associated with congenital heart disease medgen_c3697119_orphanet_275803 MedGen:C3697119,Orphanet:275803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Thoracic aortic aneurysm human_phenotype_ontology_hp_0012727_mondo_mondo_0005396_medgen_c0162872 Human_Phenotype_Ontology:HP:0012727,MONDO:MONDO:0005396,MedGen:C0162872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Premature closure of fontanelles human_phenotype_ontology_hp_0005458_medgen_c0277827 Human_Phenotype_Ontology:HP:0005458,MedGen:C0277827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Polydactyly human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Plagiocephaly human_phenotype_ontology_hp_0001121_human_phenotype_ontology_hp_0001357_medgen_c0265529 Human_Phenotype_Ontology:HP:0001121,Human_Phenotype_Ontology:HP:0001357,MedGen:C0265529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Frontal bossing human_phenotype_ontology_hp_0000254_human_phenotype_ontology_hp_0000333_human_phenotype_ontology_hp_0001358_human_phenotype_ontology_hp_0001359_human_phenotype_ontology_hp_0002007_medgen_c0221354 Human_Phenotype_Ontology:HP:0000254,Human_Phenotype_Ontology:HP:0000333,Human_Phenotype_Ontology:HP:0001358,Human_Phenotype_Ontology:HP:0001359,Human_Phenotype_Ontology:HP:0002007,MedGen:C0221354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Cardiogenetic disease mondo_mondo_0100547_medgen_cn377187 MONDO:MONDO:0100547,MedGen:CN377187 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Aortic valve disease 1 mondo_mondo_0024523_medgen_c3887892_omim_109730 MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Malignant tumor of pancreas mondo_mondo_0009831_medgen_c0346647 MONDO:MONDO:0009831,MedGen:C0346647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Juvenile polyposis of stomach medgen_c1832940 MedGen:C1832940 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Gallbladder cancer mondo_mondo_0005411_medgen_c0153452 MONDO:MONDO:0005411,MedGen:C0153452 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Familial renal glucosuria mondo_mondo_0009297_medgen_c3245525_omim_233100_orphanet_69076 MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Familial aortopathy familial_aortopathy MedGen:CN078214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD4 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Isolated thoracic aortic aneurysm isolated_thoracic_aortic_aneurysm . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Ascending aortic dissection human_phenotype_ontology_hp_0004933_medgen_c1836653 Human_Phenotype_Ontology:HP:0004933,MedGen:C1836653 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Aortic aneurysm, familial thoracic, SMAD3 related aortic_aneurysm_familial_thoracic_smad3_related MedGen:CN231478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Aortic aneurysm human_phenotype_ontology_hp_0004942_mondo_mondo_0005160_medgen_c0003486 Human_Phenotype_Ontology:HP:0004942,MONDO:MONDO:0005160,MedGen:C0003486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 SMAD2-related cardiac disorders smad2_related_cardiac_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 Loeys-Dietz syndrome 1 mondo_mondo_0012212_medgen_c4551955_omim_609192_orphanet_60030 MONDO:MONDO:0012212,MedGen:C4551955,OMIM:609192,Orphanet:60030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLX4 SLX4-related disorder slx4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLX4 Glioblastoma multiforme human_phenotype_ontology_hp_0012174_human_phenotype_ontology_hp_0100843_medgen_c1621958 Human_Phenotype_Ontology:HP:0012174,Human_Phenotype_Ontology:HP:0100843,MedGen:C1621958 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLTM Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLPI Otitis media, susceptibility to mondo_mondo_0008162_medgen_c1833692_omim_166760 MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLK condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK6 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK5 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLITRK1 Trichotillomania human_phenotype_ontology_hp_0012167_mondo_mondo_0013189_medgen_c0040953_omim_613229 Human_Phenotype_Ontology:HP:0012167,MONDO:MONDO:0013189,MedGen:C0040953,OMIM:613229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLIT3 Familial congenital diaphragmatic hernia familial_congenital_diaphragmatic_hernia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLIT1 Monomelic amyotrophy mondo_mondo_0011224_medgen_c1865384_omim_602440_orphanet_65684 MONDO:MONDO:0011224,MedGen:C1865384,OMIM:602440,Orphanet:65684 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLFN14 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLFN11 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO2A1 Pachydermoperiostosis syndrome mondo_mondo_0016620_medgen_c0029411_omim_ps259100_orphanet_2796 MONDO:MONDO:0016620,MedGen:C0029411,OMIM:PS259100,Orphanet:2796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO1B1 SLCO1B1-related disorder slco1b1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9B1 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A9 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A9 Autism, susceptibility to, 16 mondo_mondo_0013258_medgen_c3150677_omim_613410 MONDO:MONDO:0013258,MedGen:C3150677,OMIM:613410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A7 SLC9A7-related neurodevelopmental disorder slc9a7_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Sleep disturbance human_phenotype_ontology_hp_0002360_medgen_c0037317 Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 SLC9A6-related disorder slc9a6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Recurrent respiratory infections human_phenotype_ontology_hp_0002205_human_phenotype_ontology_hp_0002782_human_phenotype_ontology_hp_0002873_medgen_c3806482 Human_Phenotype_Ontology:HP:0002205,Human_Phenotype_Ontology:HP:0002782,Human_Phenotype_Ontology:HP:0002873,MedGen:C3806482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Gastrostomy tube feeding in infancy human_phenotype_ontology_hp_0011471_medgen_c4023342 Human_Phenotype_Ontology:HP:0011471,MedGen:C4023342 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A8 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A7 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A9 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome mondo_mondo_0010334_medgen_c3806634_omim_300475_orphanet_369939_orphanet_369942 MONDO:MONDO:0010334,MedGen:C3806634,OMIM:300475,Orphanet:369939,Orphanet:369942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 SLC6A8-related disorder slc6a8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A4 Obsessive-compulsive disorder mondo_mondo_0008114_medgen_c0028768_omim_164230 MONDO:MONDO:0008114,MedGen:C0028768,OMIM:164230 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A3 SLC6A3-related disorder slc6a3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A2 Neurocirculatory asthenia mondo_mondo_0001315_medgen_c1535893_omim_604715 MONDO:MONDO:0001315,MedGen:C1535893,OMIM:604715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A13 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 SLC6A1-related neurodevelopmental disorder slc6a1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Developmental and epileptic encephalopathy 94 mondo_mondo_0014150_medgen_c3809278_omim_615369_orphanet_1942_orphanet_2382 MONDO:MONDO:0014150,MedGen:C3809278,OMIM:615369,Orphanet:1942,Orphanet:2382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Autosomal dominant epilepsy autosomal_dominant_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC66A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A7 Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A6 SLC5A6-related disorder slc5a6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A5 congenital hypothyreodism congenital_hypothyreodism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A5 Congenital hypothyroidism human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A2 Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A1 SLC5A1-related glucose/galactose malabsorption slc5a1_related_glucose_galactose_malabsorption . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A1 Renal glycosuria medgen_c0017980 MedGen:C0017980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A3 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A2 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A2 Brown-Vialetto-van Laere syndrome 1 mondo_mondo_0024537_medgen_c0796274_omim_211530_orphanet_572543_orphanet_97229 MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A2 Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC51B Diarrhea human_phenotype_ontology_hp_0002014_medgen_c0011991 Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC51B Cholestasis human_phenotype_ontology_hp_0001396_mondo_mondo_0001751_medgen_c0008370 Human_Phenotype_Ontology:HP:0001396,MONDO:MONDO:0001751,MedGen:C0008370 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC51B Bile acid malabsorption, primary, 2 mondo_mondo_0859180_medgen_c5561962_omim_619481 MONDO:MONDO:0859180,MedGen:C5561962,OMIM:619481 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC51A Cholestasis, progressive familial intrahepatic, 6 mondo_mondo_0030360_medgen_c5561965_omim_619484 MONDO:MONDO:0030360,MedGen:C5561965,OMIM:619484 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A4 SLC4A4-related disorder slc4a4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A4 Combined oxidative phosphorylation defect type 24 mondo_mondo_0014547_medgen_c4015643_omim_616239_orphanet_444458 MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A2 Distal renal tubular acidosis human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Renal tubular acidosis, distal, with normal red cell morphology medgen_c1969039 MedGen:C1969039 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Malaria, cerebral, resistance to medgen_c1969379 MedGen:C1969379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC49A3 Retinitis pigmentosa 40 mondo_mondo_0013429_medgen_c3151107_omim_613801_orphanet_791 MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC46A1 SLC46A1-related disorder slc46a1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC46A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A2 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A2 Albinism or congenital nystagmus albinism_or_congenital_nystagmus . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A2 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A1 Intellectual developmental disorder with neuropsychiatric features mondo_mondo_0044322_medgen_c4479636_omim_617532 MONDO:MONDO:0044322,MedGen:C4479636,OMIM:617532 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC44A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC44A1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC41A1 Nephronophthisis-like nephropathy 2 mondo_mondo_0859175_medgen_c5561953_omim_619468 MONDO:MONDO:0859175,MedGen:C5561953,OMIM:619468 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 Nephrolithiasis human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 Nephrocalcinosis human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 Myasthenic syndrome, congenital, 22 mondo_mondo_0044299_medgen_c4479088_omim_616224 MONDO:MONDO:0044299,MedGen:C4479088,OMIM:616224 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A4 Rare genetic inflammatory skin disorders rare_genetic_inflammatory_skin_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A14 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A13 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A13 Ehlers-Danlos syndrome, spondylocheirodysplastic type mondo_mondo_0012873_medgen_c2676510_omim_612350_orphanet_157965 MONDO:MONDO:0012873,MedGen:C2676510,OMIM:612350,Orphanet:157965 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A8 Isolated foveal hypoplasia mondo_mondo_0034978_medgen_c1850993_orphanet_519398 MONDO:MONDO:0034978,MedGen:C1850993,Orphanet:519398 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A8 FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING foveal_hypoplasia_2_with_optic_nerve_misrouting . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35D1 SLC35D1-related disorder slc35d1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35B2 Primary bone dysplasia with multiple joint dislocations medgen_c5680275_orphanet_93441 MedGen:C5680275,Orphanet:93441 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A2 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A2 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A3 Hypophosphataemia or rickets hypophosphataemia_or_rickets . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A3 Hypercalciuria human_phenotype_ontology_hp_0002150_medgen_c0020438 Human_Phenotype_Ontology:HP:0002150,MedGen:C0020438 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A2 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 Osteogenesis imperfecta type III mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 Nephrolithiasis human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 Nephrocalcinosis human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 FACTOR XII (LOCARNO) factor_xii_locarno . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 Autosomal recessive infantile hypercalcemia mondo_mondo_0000212_medgen_c4329374_omim_ps143880_orphanet_300547 MONDO:MONDO:0000212,MedGen:C4329374,OMIM:PS143880,Orphanet:300547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC33A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC33A1 Hypothyroidism human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC33A1 Hereditary spastic paraplegia 42 mondo_mondo_0012928_medgen_c2675528_omim_612539_orphanet_171863 MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC33A1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC33A1 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC32A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC31A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A7 Testicular atrophy human_phenotype_ontology_hp_0000029_mondo_mondo_0001415_medgen_c0156312 Human_Phenotype_Ontology:HP:0000029,MONDO:MONDO:0001415,MedGen:C0156312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A7 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency mondo_mondo_0014206_medgen_c4225400_omim_615486_orphanet_440427 MONDO:MONDO:0014206,MedGen:C4225400,OMIM:615486,Orphanet:440427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A7 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC30A7 Decreased testicular size human_phenotype_ontology_hp_0000043_human_phenotype_ontology_hp_0008734_medgen_c0241355 Human_Phenotype_Ontology:HP:0000043,Human_Phenotype_Ontology:HP:0008734,MedGen:C0241355 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A2 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Paroxysmal dystonia human_phenotype_ontology_hp_0002268_human_phenotype_ontology_hp_0002412_mondo_mondo_0016058_medgen_c0393588_orphanet_200037 Human_Phenotype_Ontology:HP:0002268,Human_Phenotype_Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588,Orphanet:200037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Myoclonus human_phenotype_ontology_hp_0001336_human_phenotype_ontology_hp_0002535_human_phenotype_ontology_hp_0007087_medgen_c0027066 Human_Phenotype_Ontology:HP:0001336,Human_Phenotype_Ontology:HP:0002535,Human_Phenotype_Ontology:HP:0007087,MedGen:C0027066 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Epilepsy with myoclonic atonic seizures human_phenotype_ontology_hp_0011170_mondo_mondo_0014633_medgen_c0393702_omim_616421_orphanet_1942 Human_Phenotype_Ontology:HP:0011170,MONDO:MONDO:0014633,MedGen:C0393702,OMIM:616421,Orphanet:1942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Chromosome 17q23.1-q23.2 deletion syndrome mondo_mondo_0013238_medgen_c3150607_omim_613355_orphanet_261279 MONDO:MONDO:0013238,MedGen:C3150607,OMIM:613355,Orphanet:261279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC29A3 Pigmentary skin disorders pigmentary_skin_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC29A1 Hemolytic disease of fetus OR newborn due to isoimmunization mondo_mondo_0006760_medgen_c0014761_orphanet_275938 MONDO:MONDO:0006760,MedGen:C0014761,Orphanet:275938 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC27A4 Autosomal recessive congenital ichthyosis mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC27A2 Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Autosomal recessive SLC26A4-related disorders autosomal_recessive_slc26a4_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A3 Gastrointestinal obstruction human_phenotype_ontology_hp_0004796_medgen_c0236124 Human_Phenotype_Ontology:HP:0004796,MedGen:C0236124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Diastrophic dysplasia, broad bone-platyspondylic variant medgen_c1857255 MedGen:C1857255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 De la Chapelle dysplasia mondo_mondo_0800307_medgen_c1850555 MONDO:MONDO:0800307,MedGen:C1850555 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A11 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A11 Sanfilippo syndrome mondo_mondo_0018937_medgen_c0026706_orphanet_581 MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A11 SGSH-related disorder sgsh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A11 Mucopolysaccharidosis, MPS-III-A mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A11 Mucopolysaccharidosis mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 Nephrolithiasis, calcium oxalate human_phenotype_ontology_hp_0008672_human_phenotype_ontology_hp_0008700_human_phenotype_ontology_hp_0008725_mondo_mondo_0957318_medgen_c1833683_omim_ps167030 Human_Phenotype_Ontology:HP:0008672,Human_Phenotype_Ontology:HP:0008700,Human_Phenotype_Ontology:HP:0008725,MONDO:MONDO:0957318,MedGen:C1833683,OMIM:PS167030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 Mucopolysaccharidosis mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 Interstitial pneumonitis human_phenotype_ontology_hp_0006515_medgen_c0206061 Human_Phenotype_Ontology:HP:0006515,MedGen:C0206061 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 Hypersulfaturia mondo_mondo_0957268_medgen_c5830511_omim_620372 MONDO:MONDO:0957268,MedGen:C5830511,OMIM:620372 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A46 SLC25A46-associated optic atrophy spectrum disorder slc25a46_associated_optic_atrophy_spectrum_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A42 SLC25A42-related mitochondrial encephalomyopathy slc25a42_related_mitochondrial_encephalomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A42 SLC25A42-related mitochondrial disorder slc25a42_related_mitochondrial_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A42 Inborn mitochondrial myopathy human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A42 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Vertigo human_phenotype_ontology_hp_0002321_medgen_c0042571 Human_Phenotype_Ontology:HP:0002321,MedGen:C0042571 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 SLC25A4-related disorder slc25a4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Progressive sensorineural hearing impairment human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Mitochondrial respiratory chain defects human_phenotype_ontology_hp_0200125_medgen_c2751582 Human_Phenotype_Ontology:HP:0200125,MedGen:C2751582 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Left ventricular hypertrophy human_phenotype_ontology_hp_0001712_human_phenotype_ontology_hp_0005171_medgen_c0149721 Human_Phenotype_Ontology:HP:0001712,Human_Phenotype_Ontology:HP:0005171,MedGen:C0149721 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Inborn mitochondrial myopathy human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A4 Abnormality of mitochondrial metabolism human_phenotype_ontology_hp_0003287_medgen_c4021734 Human_Phenotype_Ontology:HP:0003287,MedGen:C4021734 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A26 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A26 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A25 Nephrolithiasis human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A24 Dementia human_phenotype_ontology_hp_0000726_human_phenotype_ontology_hp_0002274_human_phenotype_ontology_hp_0007122_human_phenotype_ontology_hp_0007150_human_phenotype_ontology_hp_0007283_mondo_mondo_0001627_medgen_c0497327 Human_Phenotype_Ontology:HP:0000726,Human_Phenotype_Ontology:HP:0002274,Human_Phenotype_Ontology:HP:0007122,Human_Phenotype_Ontology:HP:0007150,Human_Phenotype_Ontology:HP:0007283,MONDO:MONDO:0001627,MedGen:C0497327 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A24 Bilateral tonic-clonic seizure human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A22 SLC25A22-related disorder slc25a22_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A21 Mitochondrial DNA depletion syndrome 18 mondo_mondo_0032932_medgen_c5394140_omim_618811 MONDO:MONDO:0032932,MedGen:C5394140,OMIM:618811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A19 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A16 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A15 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A15 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 Citrullinemia type I mondo_mondo_0008988_medgen_c4721769_omim_215700_orphanet_247525 MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A10 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A10 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A5 Skin/hair/eye pigmentation, variation in, 4 medgen_c2676042 MedGen:C2676042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A5 SLC24A5-related disorder slc24a5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A5 Oculocutaneous albinism mondo_mondo_0018910_medgen_c0078918_omim_ps203100_orphanet_55 MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A4 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC24A1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A5 Congenital myasthenic syndrome 20 mondo_mondo_0014939_medgen_c4310694_omim_617143 MONDO:MONDO:0014939,MedGen:C4310694,OMIM:617143 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A5 Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A4 SLC1A4-related spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome slc1a4_related_spastic_tetraplegia_thin_corpus_callosum_progressive_postnatal_microcephaly_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A4 SLC1A4-related disorder slc1a4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC1A1 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) thiamine_metabolism_dysfunction_syndrome_2_biotin_thiamine_responsive_basal_ganglia_disease_type . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A3 SLC19A3-related disorder slc19a3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A2 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A2 Possible mitochondrial disorder - nuclear genes possible_mitochondrial_disorder_nuclear_genes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A2 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 early onset and severe retinal dystrophy early_onset_and_severe_retinal_dystrophy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Immunodeficiency 114, folate-responsive mondo_mondo_0957955_medgen_c5882719_omim_620603 MONDO:MONDO:0957955,MedGen:C5882719,OMIM:620603 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 High myopia human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Hereditary glaucoma, primary closed-angle mondo_mondo_0030038_medgen_c5394374_omim_618880 MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Cowden syndrome 1 mondo_mondo_0008021_medgen_cn072330_omim_158350 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A1 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC18A3 Congenital myasthenic syndrome 21 mondo_mondo_0014983_medgen_c4310654_omim_617239 MONDO:MONDO:0014983,MedGen:C4310654,OMIM:617239 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC18A2 Abnormal dense granules human_phenotype_ontology_hp_0012484_medgen_c4022885 Human_Phenotype_Ontology:HP:0012484,MedGen:C4022885 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC18A2 Abnormal dense granule content human_phenotype_ontology_hp_0012529_medgen_c4021839 Human_Phenotype_Ontology:HP:0012529,MedGen:C4021839 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC18A2 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A9 Porokeratosis 8, disseminated superficial actinic type mondo_mondo_0014479_medgen_c4015128_omim_616063_orphanet_79152 MONDO:MONDO:0014479,MedGen:C4015128,OMIM:616063,Orphanet:79152 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A5 Intermediate severe Salla disease mondo_mondo_0017737_medgen_c5681076_orphanet_309331 MONDO:MONDO:0017737,MedGen:C5681076,Orphanet:309331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A5 Free sialic acid storage disease mondo_mondo_0019366_medgen_c2931872_orphanet_10870_orphanet_834 MONDO:MONDO:0019366,MedGen:C2931872,Orphanet:10870,Orphanet:834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 Decreased activity of the pyruvate dehydrogenase complex human_phenotype_ontology_hp_0002928_medgen_c1839888 Human_Phenotype_Ontology:HP:0002928,MedGen:C1839888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A13 Short stature with nonspecific skeletal abnormalities 1 mondo_mondo_0014551_medgen_cn379227_omim_616255 MONDO:MONDO:0014551,MedGen:CN379227,OMIM:616255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A12 Juvenile cataract-microcornea-renal glucosuria syndrome mondo_mondo_0012786_medgen_c4310806_omim_612018_orphanet_247794 MONDO:MONDO:0012786,MedGen:C4310806,OMIM:612018,Orphanet:247794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A1 Metabolic myopathy due to lactate transporter defect mondo_mondo_0009501_medgen_c1855577_omim_245340_orphanet_171690 MONDO:MONDO:0009501,MedGen:C1855577,OMIM:245340,Orphanet:171690 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC14A1 Jk-null variant, finnish type jk_null_variant_finnish_type . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 Undetermined early-onset epileptic encephalopathy mondo_mondo_0018614_medgen_c5680057_orphanet_442835 MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 SLC13A5-related disorder slc13a5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A9 Lymphatic malformation 7 mondo_mondo_0015009_medgen_c4310629_omim_617300 MONDO:MONDO:0015009,MedGen:C4310629,OMIM:617300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Usher syndrome type 1C mondo_mondo_0010171_medgen_c1848604_omim_276904_orphanet_231169_orphanet_886 MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Clinodactyly of the 5th finger human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A5 Epilepsy, idiopathic generalized, susceptibility to, 14 mondo_mondo_0014734_medgen_c4225245_omim_616685 MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A4 LCAT deficiency mondo_mondo_0018999_medgen_c5779633_orphanet_650_orphanet_79293 MONDO:MONDO:0018999,MedGen:C5779633,Orphanet:650,Orphanet:79293 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A4 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Renal tubular acidosis human_phenotype_ontology_hp_0001947_mondo_mondo_0001909_medgen_c0001126 Human_Phenotype_Ontology:HP:0001947,MONDO:MONDO:0001909,MedGen:C0001126 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Myalgia human_phenotype_ontology_hp_0003326_human_phenotype_ontology_hp_0003718_medgen_c0231528 Human_Phenotype_Ontology:HP:0003326,Human_Phenotype_Ontology:HP:0003718,MedGen:C0231528 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Inherited renal tubular disease mondo_mondo_0015962_medgen_c5680544_orphanet_183592 MONDO:MONDO:0015962,MedGen:C5680544,Orphanet:183592 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Hypokalemia human_phenotype_ontology_hp_0002900_medgen_c0020621 Human_Phenotype_Ontology:HP:0002900,MedGen:C0020621 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Hypermagnesemia human_phenotype_ontology_hp_0002918_medgen_c1522135 Human_Phenotype_Ontology:HP:0002918,MedGen:C1522135 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Familial aortopathy familial_aortopathy MedGen:CN078214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 Profound global developmental delay human_phenotype_ontology_hp_0012736_medgen_c3553450 Human_Phenotype_Ontology:HP:0012736,MedGen:C3553450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 Infant onset multiple organ failure infant_onset_multiple_organ_failure . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC11A2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC11A2 SLC11A2-related disorder slc11a2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC10A2 Bile acid malabsorption, primary, 1 mondo_mondo_0013214_medgen_c5561934_omim_613291 MONDO:MONDO:0013214,MedGen:C5561934,OMIM:613291 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC10A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC10A1 Hypercholanemia, familial, 2 mondo_mondo_0031003_medgen_c5543243_omim_619256 MONDO:MONDO:0031003,MedGen:C5543243,OMIM:619256 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLA TG-related disorder tg_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKOR2 Valence-Farazi cerebellar ataxia syndrome mondo_mondo_0980707_medgen_cn380060_omim_621386 MONDO:MONDO:0980707,MedGen:CN380060,OMIM:621386 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC2 Immunodeficiency 57 mondo_mondo_0020849_medgen_c4748212_omim_618108 MONDO:MONDO:0020849,MedGen:C4748212,OMIM:618108 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI Disproportionate tall stature human_phenotype_ontology_hp_0001519_human_phenotype_ontology_hp_0003511_human_phenotype_ontology_hp_0008864_medgen_c1836996 Human_Phenotype_Ontology:HP:0001519,Human_Phenotype_Ontology:HP:0003511,Human_Phenotype_Ontology:HP:0008864,MedGen:C1836996 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX6 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX6 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX6 Microcornea human_phenotype_ontology_hp_0000482_human_phenotype_ontology_hp_0100688_medgen_c0266544 Human_Phenotype_Ontology:HP:0000482,Human_Phenotype_Ontology:HP:0100688,MedGen:C0266544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX6 Cornea plana human_phenotype_ontology_hp_0007720_mondo_mondo_0000733_medgen_c0344529_omim_ps121400_orphanet_53691 Human_Phenotype_Ontology:HP:0007720,MONDO:MONDO:0000733,MedGen:C0344529,OMIM:PS121400,Orphanet:53691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX3 Schizencephaly human_phenotype_ontology_hp_0010636_mondo_mondo_0010011_medgen_c0266484_omim_269160_orphanet_799 Human_Phenotype_Ontology:HP:0010636,MONDO:MONDO:0010011,MedGen:C0266484,OMIM:269160,Orphanet:799 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX3 SIX3-related disorder six3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX2 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 Melnick-Fraser syndrome mondo_mondo_0007029_medgen_c0265234_omim_ps113650_orphanet_107 MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 Branchiootorenal syndrome 1 mondo_mondo_0007236_medgen_c4551702_omim_113650_orphanet_107 MONDO:MONDO:0007236,MedGen:C4551702,OMIM:113650,Orphanet:107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 Branchiootic syndrome mondo_mondo_0018878_medgen_c4273131_omim_ps602588_orphanet_52429 MONDO:MONDO:0018878,MedGen:C4273131,OMIM:PS602588,Orphanet:52429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIX1 Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIRT6 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIRT4 RNU4-2-related condition rnu4_2_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIRT4 RNU4-2-associated neurodevelopmental disorder rnu4_2_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIRT4 Autosomal recessive RNU4-2-related neurodevelopmental disorder autosomal_recessive_rnu4_2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIPA1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIPA1 Mucocutaneous ulceration, chronic mondo_mondo_0032659_medgen_c4748997_omim_618287 MONDO:MONDO:0032659,MedGen:C4748997,OMIM:618287 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3B SIN3B-related neurodevelopmental disorder sin3b_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3B Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3A Chromosome 15q24 deletion syndrome mondo_mondo_0013256_medgen_c3150674_orphanet_94065 MONDO:MONDO:0013256,MedGen:C3150674,Orphanet:94065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIM2 Neurodevelopmental with craniofacial anomalies disorder neurodevelopmental_with_craniofacial_anomalies_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIM1 SIM1-associated metabolic syndrome sim1_associated_metabolic_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIM1 Brachydactyly human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIK1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIK1 Language disorder human_phenotype_ontology_hp_0002463_mondo_mondo_0004750_medgen_c0023015 Human_Phenotype_Ontology:HP:0002463,MONDO:MONDO:0004750,MedGen:C0023015 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIK1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIAH1 SIAH1-related neurodevelopmental disorder siah1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIAH1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SI Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SI Congenital sucrose-isomaltase deficiency congenital_sucrose_isomaltase_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHROOM4 X-linked intellectual disability, Stocco dos Santos type mondo_mondo_0010325_medgen_c1845530_omim_300434_orphanet_85288 MONDO:MONDO:0010325,MedGen:C1845530,OMIM:300434,Orphanet:85288 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHROOM2 Meniere disease mondo_mondo_0007972_medgen_c0025281_omim_156000 MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHQ1 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOX Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOX Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 SHOC2-related disorder shoc2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Polycystic kidney disease 4 mondo_mondo_0033004_medgen_c4540575_omim_263200 MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Noonan syndrome-like disorder with loose anagen hair mondo_mondo_0011899_medgen_c1843181_omim_ps607721_orphanet_2701 MONDO:MONDO:0011899,MedGen:C1843181,OMIM:PS607721,Orphanet:2701 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC2 Houge-Janssens syndrome 2 mondo_mondo_0014605_medgen_c4225352_omim_616362_orphanet_457284 MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC1 SHOC1-related condition shoc1_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOC1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Septo-optic dysplasia sequence human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Polydactyly of a triphalangeal thumb mondo_mondo_0008270_medgen_c1868114_omim_174500_orphanet_2439_orphanet_2950_orphanet_93336 MONDO:MONDO:0008270,MedGen:C1868114,OMIM:174500,Orphanet:2439,Orphanet:2950,Orphanet:93336 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Partial agenesis of the corpus callosum human_phenotype_ontology_hp_0001338_human_phenotype_ontology_hp_0006982_human_phenotype_ontology_hp_0007090_human_phenotype_ontology_hp_0007128_medgen_c0431368 Human_Phenotype_Ontology:HP:0001338,Human_Phenotype_Ontology:HP:0006982,Human_Phenotype_Ontology:HP:0007090,Human_Phenotype_Ontology:HP:0007128,MedGen:C0431368 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Microphthalmia, isolated, with coloboma 5 mondo_mondo_0012709_medgen_c1968843_omim_611638_orphanet_98938 MONDO:MONDO:0012709,MedGen:C1968843,OMIM:611638,Orphanet:98938 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Developmental and epileptic encephalopathy, 11 mondo_mondo_0013388_medgen_c3150987_omim_613721_orphanet_1934 MONDO:MONDO:0013388,MedGen:C3150987,OMIM:613721,Orphanet:1934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHARPIN Sharpin-related autoinflammatory syndrome mondo_mondo_1040029_medgen_cn378144 MONDO:MONDO:1040029,MedGen:CN378144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 SHANK2-related disorder shank2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 SHANK1-related disorder shank1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 SHANK1-related autism shank1_related_autism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 SHANK1-associated disorder shank1_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHANK1 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Charcot-Marie-Tooth disease, type I mondo_mondo_0019011_medgen_c0751036_orphanet_65753 MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3PXD2B SH3PXD2B-related disorder sh3pxd2b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3PXD2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3BGRL2 Leber congenital amaurosis 5 mondo_mondo_0011473_medgen_c1858301_omim_604537_orphanet_65 MONDO:MONDO:0011473,MedGen:C1858301,OMIM:604537,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2D7 Autosomal recessive nonsyndromic hearing loss 48 mondo_mondo_0012273_medgen_c1836199_omim_609439_orphanet_90636 MONDO:MONDO:0012273,MedGen:C1836199,OMIM:609439,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2D1A Lymphoproliferative syndrome with absent SAP expression lymphoproliferative_syndrome_with_absent_sap_expression . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2D1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2B3 Primary familial polycythemia due to EPO receptor mutation mondo_mondo_0007572_medgen_c4551637_omim_133100_orphanet_90042 MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2B3 Juvenile myelomonocytic leukemia human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2B3 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSM3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSM3 SGSM3-related intellectual disability sgsm3_related_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Abnormal circulating carbohydrate concentration human_phenotype_ontology_hp_0004366_human_phenotype_ontology_hp_0011013_medgen_c5139058 Human_Phenotype_Ontology:HP:0004366,Human_Phenotype_Ontology:HP:0011013,MedGen:C5139058 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGPL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGO2 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGO1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGO1 SGO1-related disorder sgo1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGO1 Chronic atrial and intestinal dysrhythmia mondo_mondo_0014528_medgen_c4015474_omim_616201_orphanet_435988 MONDO:MONDO:0014528,MedGen:C4015474,OMIM:616201,Orphanet:435988 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGO1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGMS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGMS2 Calvarial doughnut lesions-bone fragility syndrome mondo_mondo_0007470_medgen_c1852022_omim_126550_orphanet_85192 MONDO:MONDO:0007470,MedGen:C1852022,OMIM:126550,Orphanet:85192 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGMS2 Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia calvarial_doughnut_lesions_with_bone_fragility_with_or_without_spondylometaphyseal_dysplasia MedGen:CN301226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGK2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGK1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCG SGCG-related disorder sgcg_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCG SGCG-related congenital myopathy sgcg_related_congenital_myopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCG Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCE Myoclonus-dystonia syndrome mondo_mondo_0000903_medgen_cn295306_orphanet_36899 MONDO:MONDO:0000903,MedGen:CN295306,Orphanet:36899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCD Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCD Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Sialidosis mondo_mondo_0017734_medgen_c0268226_orphanet_309294 MONDO:MONDO:0017734,MedGen:C0268226,Orphanet:309294 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Limb-girdle muscular dystrophy, recessive limb_girdle_muscular_dystrophy_recessive MedGen:CN239352 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFXN4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPC Pulmonary fibrosis human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPC Interstitial lung disease 2 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPA2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SFTPA2 Pulmonary fibrosis human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B4 SF3B4-related disorder sf3b4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B4 Hereditary hearing loss and deafness medgen_c0236038 MedGen:C0236038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B1 Myelodysplastic syndrome progressed to acute myeloid leukemia myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B1 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3A1 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF1 SF1-related neurodevelopmental disorder sf1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEZ6L Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEZ6 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Slurred speech human_phenotype_ontology_hp_0001350_medgen_c0234518 Human_Phenotype_Ontology:HP:0001350,MedGen:C0234518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Slightly reduced reflexes slightly_reduced_reflexes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Dysmetria human_phenotype_ontology_hp_0001310_medgen_c0234162 Human_Phenotype_Ontology:HP:0001310,MedGen:C0234162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Dysdiadochokinesis human_phenotype_ontology_hp_0002075_human_phenotype_ontology_hp_0002426_medgen_c0234979 Human_Phenotype_Ontology:HP:0002075,Human_Phenotype_Ontology:HP:0002426,MedGen:C0234979 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia mondo_mondo_0008842_medgen_c1859598_omim_208920_orphanet_1168 MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETSIP Intellectual disability, autosomal dominant 58 mondo_mondo_0020847_medgen_c4748195_omim_618106 MONDO:MONDO:0020847,MedGen:C4748195,OMIM:618106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD6 Vissers-Bodmer syndrome mondo_mondo_0033618_medgen_c5436647_omim_619033 MONDO:MONDO:0033618,MedGen:C5436647,OMIM:619033 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Cornelia de Lange-like syndrome cornelia_de_lange_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Cleft lip human_phenotype_ontology_hp_0410030_mondo_mondo_0004747_medgen_c4321245 Human_Phenotype_Ontology:HP:0410030,MONDO:MONDO:0004747,MedGen:C4321245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Chromatinopathy chromatinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 SETD2 associated neurodevelopmental disorder with multiple congenital anomalies setd2_associated_neurodevelopmental_disorder_with_multiple_congenital_anomalies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Rabin-Pappas syndrome mondo_mondo_0859331_medgen_c5774269_omim_620155 MONDO:MONDO:0859331,MedGen:C5774269,OMIM:620155 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Intellectual developmental disorder, autosomal dominant 70 mondo_mondo_0859333_medgen_c5774271_omim_620157 MONDO:MONDO:0859333,MedGen:C5774271,OMIM:620157 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Genetic syndrome with a Dandy-Walker malformation as major feature genetic_syndrome_with_a_dandy_walker_malformation_as_major_feature . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B SETD1B-associated disorder setd1b_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Teratoma human_phenotype_ontology_hp_0009792_mondo_mondo_0002601_medgen_c0039538 Human_Phenotype_Ontology:HP:0009792,MONDO:MONDO:0002601,MedGen:C0039538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Penile hypospadias human_phenotype_ontology_hp_0003244_medgen_c1691215 Human_Phenotype_Ontology:HP:0003244,MedGen:C1691215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Midface retrusion human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Lymphoma human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Large fontanelles human_phenotype_ontology_hp_0000239_human_phenotype_ontology_hp_0004473_medgen_c0456132 Human_Phenotype_Ontology:HP:0000239,Human_Phenotype_Ontology:HP:0004473,MedGen:C0456132 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Hydronephrosis human_phenotype_ontology_hp_0000126_mondo_mondo_0005510_medgen_c0020295 Human_Phenotype_Ontology:HP:0000126,MONDO:MONDO:0005510,MedGen:C0020295 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Cerebral atrophy human_phenotype_ontology_hp_0002059_human_phenotype_ontology_hp_0002422_human_phenotype_ontology_hp_0006890_medgen_c0235946 Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Abnormal nail morphology human_phenotype_ontology_hp_0001597_medgen_c0853087 Human_Phenotype_Ontology:HP:0001597,MedGen:C0853087 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SET SET-related disorder set_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SET Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SET Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINI1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINH1 Preterm premature rupture of membranes human_phenotype_ontology_hp_6000310_mondo_mondo_0012511_medgen_c0729264_omim_610504 Human_Phenotype_Ontology:HP:6000310,MONDO:MONDO:0012511,MedGen:C0729264,OMIM:610504 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINF2 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINF1 SERPINF1-related disorder serpinf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINF1 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINE1 Congenital plasminogen activator inhibitor type 1 deficiency mondo_mondo_0013227_medgen_c2750067_omim_613329_orphanet_465 MONDO:MONDO:0013227,MedGen:C2750067,OMIM:613329,Orphanet:465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINE1 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPIND1 Hemorrhage mesh_d006470_medgen_c0019080 MeSH:D006470,MedGen:C0019080 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINC1 Thromboembolism human_phenotype_ontology_hp_0001907_medgen_c0040038 Human_Phenotype_Ontology:HP:0001907,MedGen:C0040038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINC1 Coloboma of optic nerve human_phenotype_ontology_hp_0000588_human_phenotype_ontology_hp_0007997_mondo_mondo_0007354_medgen_c0155299_omim_120430_orphanet_35737_orphanet_98947 Human_Phenotype_Ontology:HP:0000588,Human_Phenotype_Ontology:HP:0007997,MONDO:MONDO:0007354,MedGen:C0155299,OMIM:120430,Orphanet:35737,Orphanet:98947 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINC1 Abnormal thrombosis human_phenotype_ontology_hp_0001977_medgen_c4025731 Human_Phenotype_Ontology:HP:0001977,MedGen:C4025731 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINB7 Palmoplantar keratodermas palmoplantar_keratodermas . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINB6 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA7 Thyroxine-binding globulin, slow thyroxine_binding_globulin_slow . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA7 Thyroxine-binding globulin, Chicago thyroxine_binding_globulin_chicago . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA7 Thyroxine-binding globulin quantitative trait locus medgen_c4310821_omim_300932 MedGen:C4310821,OMIM:300932 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA7 Thyroxine-binding globulin deficiency, partial medgen_c0271836 MedGen:C0271836 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA7 Thyroxine-binding globulin deficiency medgen_c1839141 MedGen:C1839141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA3 ANTICHYMOTRYPSIN BOCHUM 1 antichymotrypsin_bochum_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA12 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type mondo_mondo_0009489_medgen_cn031296 MONDO:MONDO:0009489,MedGen:CN031296 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA11 Pleural effusion human_phenotype_ontology_hp_0002202_medgen_c0032227 Human_Phenotype_Ontology:HP:0002202,MedGen:C0032227 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA11 Pericardial effusion human_phenotype_ontology_hp_0001698_mondo_mondo_0001370_medgen_c0031039 Human_Phenotype_Ontology:HP:0001698,MONDO:MONDO:0001370,MedGen:C0031039 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Susceptibility to severe coronavirus disease (COVID-19) susceptibility_to_severe_coronavirus_disease_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Pneumothorax - familial pneumothorax_familial . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI S(IIYAMA) pi_s_iiyama . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI S pi_s . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI Q0(NEWPORT) pi_q0_newport . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI Q0(LUDWIGSHAFEN) pi_q0_ludwigshafen . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI Q0(HONG KONG 1) pi_q0_hong_kong_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI Q0(GRANITE FALLS) pi_q0_granite_falls . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI Q0(DEVON) pi_q0_devon . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI Q0(CARDIFF) pi_q0_cardiff . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI Q0(BOLTON) pi_q0_bolton . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI Q0(BELLINGHAM) pi_q0_bellingham . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI P(LOWELL) pi_p_lowell . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI P(DUARTE) pi_p_duarte . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI NULL(WEST) pi_null_west . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI NULL(NEWPORT) pi_null_newport . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI NULL(LUDWIGSHAFEN) pi_null_ludwigshafen . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI NULL(HONG KONG 1) pi_null_hong_kong_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI NULL(DEVON) pi_null_devon . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI NULL(CARDIFF) pi_null_cardiff . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI NULL(BOLTON) pi_null_bolton . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI NULL(BELLINGHAM) pi_null_bellingham . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI M(PROCIDA) pi_m_procida . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI M(MINERAL SPRINGS) pi_m_mineral_springs . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI M(MALTON) pi_m_malton . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI M(HEERLEN) pi_m_heerlen . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 PI I pi_i . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Mitochondrial complex I deficiency, nuclear type 21 mondo_mondo_0032625_medgen_c4748792_omim_618242 MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation mondo_mondo_0015801_medgen_c5190706_orphanet_178396 MONDO:MONDO:0015801,MedGen:C5190706,Orphanet:178396 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Cystic fibrosis mondo_mondo_0009061_medgen_c0010674_omim_219700_orphanet_586 MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Chronic obstructive pulmonary disease human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Autosomal recessive SERPINA1-related disorders autosomal_recessive_serpina1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERAC1 SERAC1-related neurological disorder mondo_mondo_0100548_medgen_cn377038 MONDO:MONDO:0100548,MedGen:CN377038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERAC1 Mitochondrial oxidative phosphorylation disorder mondo_mondo_0016387_medgen_c5679825_orphanet_223713 MONDO:MONDO:0016387,MedGen:C5679825,Orphanet:223713 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPTIN9 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPTIN9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Spinal rigidity human_phenotype_ontology_hp_0003306_medgen_c1858025 Human_Phenotype_Ontology:HP:0003306,MedGen:C1858025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Spastic diplegia human_phenotype_ontology_hp_0001264_medgen_c0023882 Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Progressive limb weakness medgen_c3509787 MedGen:C3509787 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Neurodegeneration human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Kyphosis human_phenotype_ontology_hp_0002769_human_phenotype_ontology_hp_0002808_human_phenotype_ontology_hp_0003314_medgen_c0022821 Human_Phenotype_Ontology:HP:0002769,Human_Phenotype_Ontology:HP:0002808,Human_Phenotype_Ontology:HP:0003314,MedGen:C0022821 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Elliptical nystagmus medgen_c1321325 MedGen:C1321325 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Cerebral hypoplasia human_phenotype_ontology_hp_0006872_medgen_c1855330 Human_Phenotype_Ontology:HP:0006872,MedGen:C1855330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPHS1 SEPHS1-related disorder sephs1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SENP7 arthrogryposis multiplex congenita with neutropenia and early respiratory failure arthrogryposis_multiplex_congenita_with_neutropenia_and_early_respiratory_failure . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SENP7 SENP7-associated disorder senp7_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SENP7 Arthrogryposis Multiplex Congenita and Immunodeficiency arthrogryposis_multiplex_congenita_and_immunodeficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA7A Cholestasis, progressive familial intrahepatic, 11 mondo_mondo_0030815_medgen_c5676985_omim_619874 MONDO:MONDO:0030815,MedGen:C5676985,OMIM:619874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA6B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA6B Epilepsy with myoclonic atonic seizures human_phenotype_ontology_hp_0011170_mondo_mondo_0014633_medgen_c0393702_omim_616421_orphanet_1942 Human_Phenotype_Ontology:HP:0011170,MONDO:MONDO:0014633,MedGen:C0393702,OMIM:616421,Orphanet:1942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA6A Delayed puberty, self-limited mondo_mondo_0859205_medgen_c2874202_omim_619613 MONDO:MONDO:0859205,MedGen:C2874202,OMIM:619613 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA4A Retinitis pigmentosa 35 mondo_mondo_0012463_medgen_c1853214_omim_610282_orphanet_791 MONDO:MONDO:0012463,MedGen:C1853214,OMIM:610282,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA4A Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA4A Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA4A Helicoid peripapillary chorioretinal degeneration mondo_mondo_0007176_medgen_c1862382_omim_108985_orphanet_86813 MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985,Orphanet:86813 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA4A Cone-rod dystrophy 10 mondo_mondo_0012464_medgen_c1846529_omim_610283_orphanet_1872 MONDO:MONDO:0012464,MedGen:C1846529,OMIM:610283,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA3E condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA3E CHARGE syndrome mondo_mondo_0008965_medgen_c0265354_orphanet_138 MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA3D SEMA3D-related disorder sema3d_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA3D Progressive sensorineural hearing impairment human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA3A condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia mondo_mondo_0013961_medgen_c3554021_omim_614897_orphanet_478 MONDO:MONDO:0013961,MedGen:C3554021,OMIM:614897,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELP Premature coronary artery atherosclerosis human_phenotype_ontology_hp_0005181_medgen_c1867743 Human_Phenotype_Ontology:HP:0005181,MedGen:C1867743 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON SELENON-related disorder selenon_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON Cleft lip/palate mondo_mondo_0016044_medgen_c0158646_orphanet_199306 MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEL1L Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia mondo_mondo_0976131_medgen_c5975596_omim_621068 MONDO:MONDO:0976131,MedGen:C5975596,OMIM:621068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC61A1 Neutropenia, severe congenital, 11, autosomal dominant mondo_mondo_0958017_medgen_c5882742_omim_620674 MONDO:MONDO:0958017,MedGen:C5882742,OMIM:620674 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC61A1 Decreased circulating immunoglobulin concentration human_phenotype_ontology_hp_0004313_human_phenotype_ontology_hp_0010703_medgen_c4048270 Human_Phenotype_Ontology:HP:0004313,Human_Phenotype_Ontology:HP:0010703,MedGen:C4048270 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC31A Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies mondo_mondo_0032849_medgen_c5231442_omim_618651 MONDO:MONDO:0032849,MedGen:C5231442,OMIM:618651 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC24D SEC24D-related disorder sec24d_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC24C Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC23B Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDR9C7 Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Pheochromocytoma/paraganglioma syndrome 4 mondo_mondo_0007273_medgen_c1861848_omim_115310_orphanet_29072 MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Paraganglioma human_phenotype_ontology_hp_0002668_human_phenotype_ontology_hp_0002670_human_phenotype_ontology_hp_0003004_mondo_mondo_0000448_medgen_c0030421_omim_ps168000 Human_Phenotype_Ontology:HP:0002668,Human_Phenotype_Ontology:HP:0002670,Human_Phenotype_Ontology:HP:0003004,MONDO:MONDO:0000448,MedGen:C0030421,OMIM:PS168000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Mitochondrial complex II deficiency, nuclear type 1 mondo_mondo_0100294_medgen_c5700310_omim_252011_orphanet_3208 MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Fatal infantile mitochondrial cardiomyopathy medgen_c3532243 MedGen:C3532243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Von Hippel-Lindau syndrome mondo_mondo_0008667_medgen_c0019562_omim_193300_orphanet_892 MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Renal neoplasm human_phenotype_ontology_hp_0005933_human_phenotype_ontology_hp_0009726_mondo_mondo_0021163_medgen_c0022665 Human_Phenotype_Ontology:HP:0005933,Human_Phenotype_Ontology:HP:0009726,MONDO:MONDO:0021163,MedGen:C0022665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Renal cell carcinoma human_phenotype_ontology_hp_0005584_human_phenotype_ontology_hp_0006720_mondo_mondo_0005086_mesh_d002292_medgen_c0007134_orphanet_217071 Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Paragangliome / Pheochromocytome paragangliome_pheochromocytome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Inherited renal cancer inherited_renal_cancer . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHB Carney triad mondo_mondo_0011424_medgen_c1858592_omim_604287_orphanet_139411 MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHAF2 SDHAF2-related disorder sdhaf2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHAF1 Mitochondrial complex II deficiency, nuclear type 1 mondo_mondo_0100294_medgen_c5700310_omim_252011_orphanet_3208 MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Pheochromocytoma/paraganglioma syndrome 1 mondo_mondo_0008192_medgen_c3494181_omim_168000_orphanet_29072 MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Pheochromocytoma human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Paraganglioma human_phenotype_ontology_hp_0002668_human_phenotype_ontology_hp_0002670_human_phenotype_ontology_hp_0003004_mondo_mondo_0000448_medgen_c0030421_omim_ps168000 Human_Phenotype_Ontology:HP:0002668,Human_Phenotype_Ontology:HP:0002670,Human_Phenotype_Ontology:HP:0003004,MONDO:MONDO:0000448,MedGen:C0030421,OMIM:PS168000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Opsoclonus-myoclonus syndrome mondo_mondo_0015247_medgen_c0393626_orphanet_1183 MONDO:MONDO:0015247,MedGen:C0393626,Orphanet:1183 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Diffuse midline glioma, H3 K27-altered mondo_mondo_1060171_medgen_c5669877 MONDO:MONDO:1060171,MedGen:C5669877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Carney triad mondo_mondo_0011424_medgen_c1858592_omim_604287_orphanet_139411 MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHA Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 Renal dysplasia and retinal aplasia mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCYL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCYL1 SCYL1-related disorder scyl1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCUBE3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCUBE2 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCRIB Neural tube defect human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 TYMP-related disorder tymp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Alagille syndrome due to a JAG1 point mutation mondo_mondo_0016862_medgen_c1956125_omim_118450_orphanet_261619_orphanet_52 MONDO:MONDO:0016862,MedGen:C1956125,OMIM:118450,Orphanet:261619,Orphanet:52 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1G SCNN1G-related disorder scnn1g_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1B Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1B Opsoclonus-myoclonus syndrome mondo_mondo_0015247_medgen_c0393626_orphanet_1183 MONDO:MONDO:0015247,MedGen:C0393626,Orphanet:1183 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A Pseudohypoaldosteronism human_phenotype_ontology_hp_0008228_human_phenotype_ontology_hp_0008242_mondo_mondo_0018638_medgen_c0033805_orphanet_444916 Human_Phenotype_Ontology:HP:0008228,Human_Phenotype_Ontology:HP:0008242,MONDO:MONDO:0018638,MedGen:C0033805,Orphanet:444916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A Idiopathic bronchiectasis mondo_mondo_0018956_medgen_c0339985_orphanet_60033 MONDO:MONDO:0018956,MedGen:C0339985,Orphanet:60033 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A SCN9A-related peripheral neuropathies associated with increased pain scn9a_related_peripheral_neuropathies_associated_with_increased_pain . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A SCN9A-related disorder scn9a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Pain insensitivity human_phenotype_ontology_hp_0003404_human_phenotype_ontology_hp_0007021_medgen_c0344307 Human_Phenotype_Ontology:HP:0003404,Human_Phenotype_Ontology:HP:0007021,MedGen:C0344307 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Acute episodes of neuropathic symptoms human_phenotype_ontology_hp_0003489_medgen_c1867971 Human_Phenotype_Ontology:HP:0003489,MedGen:C1867971 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Abnormality of pain sensation human_phenotype_ontology_hp_0010832_medgen_c4023691 Human_Phenotype_Ontology:HP:0010832,MedGen:C4023691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A developmental delay with seizures developmental_delay_with_seizures . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Undetermined early-onset epileptic encephalopathy mondo_mondo_0018614_medgen_c5680057_orphanet_442835 MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A SCN8A-related neurodevelopmental delay scn8a_related_neurodevelopmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A SCN8A-related epileptic disorder scn8a_related_epileptic_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Malaria, susceptibility to mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Infantile spasms human_phenotype_ontology_hp_0012469_medgen_c3887898 Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Generalized tonic seizure human_phenotype_ontology_hp_0002184_human_phenotype_ontology_hp_0010818_medgen_c1836508 Human_Phenotype_Ontology:HP:0002184,Human_Phenotype_Ontology:HP:0010818,MedGen:C1836508 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Developmental stagnation at onset of seizures human_phenotype_ontology_hp_0006834_medgen_c1836829 Human_Phenotype_Ontology:HP:0006834,MedGen:C1836829 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN7A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Ventricular tachycardia efo_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Ventricular fibrillation efo_the_experimental_factor_ontology_efo_0004287_human_phenotype_ontology_hp_0001663_human_phenotype_ontology_hp_0005166_mondo_mondo_0000190_medgen_c0042510 EFO:_The_Experimental_Factor_Ontology:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Syncope human_phenotype_ontology_hp_0001279_medgen_c0039070 Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Sick sinus syndrome human_phenotype_ontology_hp_0011704_mondo_mondo_0001823_medgen_c0037052 Human_Phenotype_Ontology:HP:0011704,MONDO:MONDO:0001823,MedGen:C0037052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A SUDDEN INFANT DEATH SYNDROME efo_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Long QT syndrome 3/6, digenic medgen_c3276241 MedGen:C3276241 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A HEART BLOCK, NONPROGRESSIVE medgen_c1861983 MedGen:C1861983 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Familial sick sinus syndrome mondo_mondo_0012061_medgen_c0340491_omim_ps608567_orphanet_166282 MONDO:MONDO:0012061,MedGen:C0340491,OMIM:PS608567,Orphanet:166282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Cardiac arrest human_phenotype_ontology_hp_0001695_mondo_mondo_0000745_medgen_c0018790 Human_Phenotype_Ontology:HP:0001695,MONDO:MONDO:0000745,MedGen:C0018790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE medgen_c1861984 MedGen:C1861984 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Branchiootic syndrome 1 mondo_mondo_0011258_medgen_c1865143_omim_602588 MONDO:MONDO:0011258,MedGen:C1865143,OMIM:602588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Atrioventricular block efo_the_experimental_factor_ontology_efo_0005305_human_phenotype_ontology_hp_0001668_human_phenotype_ontology_hp_0001678_human_phenotype_ontology_hp_0005142_human_phenotype_ontology_hp_0006672_mondo_mondo_0000465_medgen_c0004245 EFO:_The_Experimental_Factor_Ontology:EFO_0005305,Human_Phenotype_Ontology:HP:0001668,Human_Phenotype_Ontology:HP:0001678,Human_Phenotype_Ontology:HP:0005142,Human_Phenotype_Ontology:HP:0006672,MONDO:MONDO:0000465,MedGen:C0004245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Atrial fibrillation efo_the_experimental_factor_ontology_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 EFO:_The_Experimental_Factor_Ontology:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Atrial fibrillation efo_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A ATRIAL STANDSTILL 1, DIGENIC medgen_c4016652 MedGen:C4016652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Sotos syndrome mondo_mondo_0019349_medgen_c0175695_omim_117550_orphanet_821 MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A SCN4A-related channelopathy mondo_mondo_0800468_medgen_cn375929 MONDO:MONDO:0800468,MedGen:CN375929 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Paramyotonia congenita/myotonia congenita medgen_c4016868 MedGen:C4016868 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Myotonia permanens mondo_mondo_0020482_medgen_c5848361_orphanet_99735 MONDO:MONDO:0020482,MedGen:C5848361,Orphanet:99735 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Myotonia congenita, atypical, acetazolamide-responsive medgen_c4016869 MedGen:C4016869 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Muscular channelopathy mondo_mondo_0019119_medgen_c5681306_orphanet_71864 MONDO:MONDO:0019119,MedGen:C5681306,Orphanet:71864 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Hypokalemic periodic paralysis mondo_mondo_0008223_medgen_c0238358_orphanet_681 MONDO:MONDO:0008223,MedGen:C0238358,Orphanet:681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Focal-onset seizure human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A atypical cerebral palsy atypical_cerebral_palsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN3A Congenital bilateral perisylvian syndrome human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A benign sporadic neonatal-infantile epilepsy benign_sporadic_neonatal_infantile_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Vertigo human_phenotype_ontology_hp_0002321_medgen_c0042571 Human_Phenotype_Ontology:HP:0002321,MedGen:C0042571 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Seizures, benign familial infantile, 5 mondo_mondo_0014903_medgen_c4310728_omim_617080_orphanet_306 MONDO:MONDO:0014903,MedGen:C4310728,OMIM:617080,Orphanet:306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A SCN2A-related neurodevelopmental disorder scn2a_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A SCN2A-associated neurodevelopmental disorders scn2a_associated_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Non-syndromic intellectual disability mondo_mondo_0000509_medgen_cn280315 MONDO:MONDO:0000509,MedGen:CN280315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Movement disorder human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Intellectual disability, autosomal dominant mondo_mondo_0100172_medgen_cn240835_omim_ps156200 MONDO:MONDO:0100172,MedGen:CN240835,OMIM:PS156200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A History of neurodevelopmental disorder medgen_c2711754 MedGen:C2711754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Hereditary episodic ataxia human_phenotype_ontology_hp_0002131_human_phenotype_ontology_hp_0006862_human_phenotype_ontology_hp_0007152_human_phenotype_ontology_hp_0007214_mondo_mondo_0016227_medgen_c1720189_omim_ps160120_orphanet_211062 Human_Phenotype_Ontology:HP:0002131,Human_Phenotype_Ontology:HP:0006862,Human_Phenotype_Ontology:HP:0007152,Human_Phenotype_Ontology:HP:0007214,MONDO:MONDO:0016227,MedGen:C1720189,OMIM:PS160120,Orphanet:211062 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Genetic developmental and epileptic encephalopathy mondo_mondo_0100062_medgen_cn379639_omim_ps308350 MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Generalized epilepsy with febrile seizures plus mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Epileptic encephalopathy, infantile or early childhood epileptic_encephalopathy_infantile_or_early_childhood MedGen:CN263091,OMIM:PS617711 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Dystonia 12 mondo_mondo_0007496_medgen_c1868681_omim_128235_orphanet_71517 MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Developmental and epileptic encephalopathy, 30 mondo_mondo_0014595_medgen_c4225360_omim_616341 MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Developmental and epileptic encephalopathy, 12 mondo_mondo_0013389_medgen_c3150988_omim_613722 MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Benign Neonatal Epilepsy medgen_c0270851 MedGen:C0270851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Autism Spectrum Disorder with Intellectual Disability autism_spectrum_disorder_with_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Genetic developmental and epileptic encephalopathy mondo_mondo_0100062_medgen_cn379639_omim_ps308350 MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Conduction system disorder efo_the_experimental_factor_ontology_efo_0005137_mondo_mondo_0005449_medgen_c2748542 EFO:_The_Experimental_Factor_Ontology:EFO_0005137,MONDO:MONDO:0005449,MedGen:C2748542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A SCN1A-related channelopathy scn1a_related_channelopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Primary generalized epilepsy primary_generalized_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA) neonatal_developmental_and_epileptic_encephalopathy_with_movement_disorders_and_arthrogryposis_ndeema . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Myoclonic encephalopathy medgen_c0438414 MedGen:C0438414 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Macrocephaly and epileptic encephalopathy medgen_c3807541_omim_606369 MedGen:C3807541,OMIM:606369 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Focal impaired awareness seizure human_phenotype_ontology_hp_0002278_human_phenotype_ontology_hp_0002384_medgen_c0270834 Human_Phenotype_Ontology:HP:0002278,Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Febrile seizure (within the age range of 3 months to 6 years) human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Developmental and epileptic encephalopathy, 76 mondo_mondo_0032768_medgen_c5193113_omim_618468 MONDO:MONDO:0032768,MedGen:C5193113,OMIM:618468 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Autosomal dominant SCN1A-related disorders autosomal_dominant_scn1a_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN11A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN11A Congenital sensory neuropathy with selective loss of small myelinated fibers mondo_mondo_0012092_medgen_c0020075_omim_608654_orphanet_64752 MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN10A Episodic pain syndrome, familial, 2 mondo_mondo_0014246_medgen_c3809893_omim_615551_orphanet_306577 MONDO:MONDO:0014246,MedGen:C3809893,OMIM:615551,Orphanet:306577 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN10A Brugada syndrome mondo_mondo_0015263_medgen_c1142166_omim_ps601144_orphanet_130 MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCLT1 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCHIP1 Familial meningioma mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCFD2 Autism, susceptiblity to mondo_mondo_0020836_medgen_cn301178_omim_ps209850 MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCEL Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCD5 Hearing loss, autosomal dominant 79 mondo_mondo_0033668_medgen_c5436772_omim_619086 MONDO:MONDO:0033668,MedGen:C5436772,OMIM:619086 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCARB1 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 medgen_c1853096_omim_610762 MedGen:C1853096,OMIM:610762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Syndromic retinitis pigmentosa medgen_c5680332_orphanet_98661 MedGen:C5680332,Orphanet:98661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Pigmentary retinopathy human_phenotype_ontology_hp_0000580_human_phenotype_ontology_hp_0007702_human_phenotype_ontology_hp_0007821_human_phenotype_ontology_hp_0007869_human_phenotype_ontology_hp_0007961_human_phenotype_ontology_hp_0008010_medgen_c4551715 Human_Phenotype_Ontology:HP:0000580,Human_Phenotype_Ontology:HP:0007702,Human_Phenotype_Ontology:HP:0007821,Human_Phenotype_Ontology:HP:0007869,Human_Phenotype_Ontology:HP:0007961,Human_Phenotype_Ontology:HP:0008010,MedGen:C4551715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Brachydactyly human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Abnormal speech pattern human_phenotype_ontology_hp_0002167_medgen_c3687424 Human_Phenotype_Ontology:HP:0002167,MedGen:C3687424 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAMP4 Neurodevelopmental disorder with brain abnormalities neurodevelopmental_disorder_with_brain_abnormalities . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 SCAF4-associated mental retardation scaf4_associated_mental_retardation . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Rare syndromic intellectual disability medgen_c5681780_orphanet_102369 MedGen:C5681780,Orphanet:102369 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Multicystic kidney dysplasia human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAF4 Abnormality of the kidney human_phenotype_ontology_hp_0000077_medgen_c0266292 Human_Phenotype_Ontology:HP:0000077,MedGen:C0266292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF2 SBF2-related disorder sbf2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF1 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Aplastic anemia, susceptibility to mondo_mondo_0800414_medgen_c2684859 MONDO:MONDO:0800414,MedGen:C2684859 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Speech articulation difficulties human_phenotype_ontology_hp_0009088_medgen_c1865313 Human_Phenotype_Ontology:HP:0009088,MedGen:C1865313 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Isolated cleft palate mondo_mondo_0007336_medgen_c1837218_omim_119540_orphanet_2014 MONDO:MONDO:0007336,MedGen:C1837218,OMIM:119540,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Hyperplasia of midface human_phenotype_ontology_hp_0010279_human_phenotype_ontology_hp_0012371_medgen_c0240309 Human_Phenotype_Ontology:HP:0010279,Human_Phenotype_Ontology:HP:0012371,MedGen:C0240309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Downturned corners of mouth human_phenotype_ontology_hp_0000192_human_phenotype_ontology_hp_0002714_medgen_c1866195 Human_Phenotype_Ontology:HP:0000192,Human_Phenotype_Ontology:HP:0002714,MedGen:C1866195 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Dolichocephaly human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Clinodactyly of the 5th finger human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Abnormality of the dentition human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB1 SATB1-related disorder satb1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASS6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH1 spino-cellular carcinoma spino_cellular_carcinoma MedGen:CN219574 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH1 dyschromatosis medgen_c4552243 MedGen:C4552243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH1 Ungual dystrophy ungual_dystrophy MedGen:CN219573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH1 Palmoplantar keratoderma human_phenotype_ontology_hp_0000982_medgen_c4551675 Human_Phenotype_Ontology:HP:0000982,MedGen:C4551675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH1 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma medgen_c5193062_omim_618373 MedGen:C5193062,OMIM:618373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SASH1 Alopecia human_phenotype_ontology_hp_0001596_human_phenotype_ontology_hp_0002238_human_phenotype_ontology_hp_0008068_mondo_mondo_0004907_medgen_c0002170_orphanet_79364 Human_Phenotype_Ontology:HP:0001596,Human_Phenotype_Ontology:HP:0002238,Human_Phenotype_Ontology:HP:0008068,MONDO:MONDO:0004907,MedGen:C0002170,Orphanet:79364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARS2 SARS2-associated condition sars2_associated_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARS1 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARM1 SLC46A1-related disorder slc46a1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARDH condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SARDH Sarcosine dehydrogenase deficiency human_phenotype_ontology_hp_0010896_mondo_mondo_0010008_medgen_c0268563_omim_268900_orphanet_3129 Human_Phenotype_Ontology:HP:0010896,MONDO:MONDO:0010008,MedGen:C0268563,OMIM:268900,Orphanet:3129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAR1B SAR1B-related disorder sar1b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAP130 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMHD1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMHD1 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9L interferonopathy interferonopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9L Spinocerebellar ataxia 49 mondo_mondo_0030805_medgen_c5676950_omim_619806_orphanet_631106 MONDO:MONDO:0030805,MedGen:C5676950,OMIM:619806,Orphanet:631106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD9L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMD11 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL4 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive mondo_mondo_0011086_medgen_c1832322_omim_601457_orphanet_331206 MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL2 Coloboma, ocular, autosomal recessive mondo_mondo_0009002_medgen_c4011974_omim_216820_orphanet_194 MONDO:MONDO:0009002,MedGen:C4011974,OMIM:216820,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAG Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Charcot-Marie-Tooth disease X-linked dominant 1 mondo_mondo_0010549_medgen_c0393808_omim_302800_orphanet_101075 MONDO:MONDO:0010549,MedGen:C0393808,OMIM:302800,Orphanet:101075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability mondo_mondo_0010040_medgen_c3151619_omim_270500 MONDO:MONDO:0010040,MedGen:C3151619,OMIM:270500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence S100PBP Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset mondo_mondo_0024189_medgen_cn228418_omim_ps616263 MONDO:MONDO:0024189,MedGen:CN228418,OMIM:PS616263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR3 Hydrops fetalis human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Ventricular fibrillation efo_the_experimental_factor_ontology_efo_0004287_human_phenotype_ontology_hp_0001663_human_phenotype_ontology_hp_0005166_mondo_mondo_0000190_medgen_c0042510 EFO:_The_Experimental_Factor_Ontology:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Paroxysmal familial ventricular fibrillation mondo_mondo_0100234_medgen_c0340493_orphanet_228140 MONDO:MONDO:0100234,MedGen:C0340493,Orphanet:228140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Conduction disorder of the heart mondo_mondo_0100042_medgen_c0264886_omim_115080_orphanet_871 MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Catecholaminergic polymorphic ventricular tachycardia 2 mondo_mondo_0012762_medgen_c2677794_omim_611938_orphanet_3286 MONDO:MONDO:0012762,MedGen:C2677794,OMIM:611938,Orphanet:3286 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Respiratory insufficiency human_phenotype_ontology_hp_0002093_human_phenotype_ontology_hp_0004893_human_phenotype_ontology_hp_0005937_human_phenotype_ontology_hp_0006542_medgen_c0035229 Human_Phenotype_Ontology:HP:0002093,Human_Phenotype_Ontology:HP:0004893,Human_Phenotype_Ontology:HP:0005937,Human_Phenotype_Ontology:HP:0006542,MedGen:C0035229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Proximal muscle weakness human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Proximal amyotrophy human_phenotype_ontology_hp_0006792_human_phenotype_ontology_hp_0006966_human_phenotype_ontology_hp_0007126_human_phenotype_ontology_hp_0008943_human_phenotype_ontology_hp_0008980_human_phenotype_ontology_hp_0009041_medgen_c1850794 Human_Phenotype_Ontology:HP:0006792,Human_Phenotype_Ontology:HP:0006966,Human_Phenotype_Ontology:HP:0007126,Human_Phenotype_Ontology:HP:0008943,Human_Phenotype_Ontology:HP:0008980,Human_Phenotype_Ontology:HP:0009041,MedGen:C1850794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Progressive distal muscle weakness human_phenotype_ontology_hp_0008933_human_phenotype_ontology_hp_0009022_human_phenotype_ontology_hp_0009057_human_phenotype_ontology_hp_0009063_medgen_c1836609 Human_Phenotype_Ontology:HP:0008933,Human_Phenotype_Ontology:HP:0009022,Human_Phenotype_Ontology:HP:0009057,Human_Phenotype_Ontology:HP:0009063,MedGen:C1836609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Pelvic girdle muscle weakness human_phenotype_ontology_hp_0003692_human_phenotype_ontology_hp_0003749_human_phenotype_ontology_hp_0008999_human_phenotype_ontology_hp_0009036_medgen_c0427064 Human_Phenotype_Ontology:HP:0003692,Human_Phenotype_Ontology:HP:0003749,Human_Phenotype_Ontology:HP:0008999,Human_Phenotype_Ontology:HP:0009036,MedGen:C0427064 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Lynch syndrome 5 mondo_mondo_0013710_medgen_c1833477_omim_614350_orphanet_144 MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Hydrops fetalis human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 History of neonatal hypotonia history_of_neonatal_hypotonia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Distal arthrogryposis human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Congenital muscular dystrophy human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Congenital contracture human_phenotype_ontology_hp_0002803_mondo_mondo_0022823_medgen_c0332878 Human_Phenotype_Ontology:HP:0002803,MONDO:MONDO:0022823,MedGen:C0332878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Autosomal dominant and autosomal recessive RYR1-related disorders autosomal_dominant_and_autosomal_recessive_ryr1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Autism spectrum disorder due to AUTS2 deficiency mondo_mondo_0014361_medgen_c4014435_omim_615834_orphanet_352490 MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Absence of the sacrum human_phenotype_ontology_hp_0010305_medgen_c0344490 Human_Phenotype_Ontology:HP:0010305,MedGen:C0344490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RXRA Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUVBL1 Neurodevelopmental disorder with progressive spasticity and brain abnormalities mondo_mondo_0976233_medgen_c6012700_omim_621102 MONDO:MONDO:0976233,MedGen:C6012700,OMIM:621102 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUVBL1 Immunodeficiency, common variable, 15 mondo_mondo_0958013_medgen_c5882741_omim_620670_orphanet_697417 MONDO:MONDO:0958013,MedGen:C5882741,OMIM:620670,Orphanet:697417 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX2 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX2 Cleidocranial dysplasia 1, forme fruste, with brachydactyly medgen_c5774312 MedGen:C5774312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX2 Cleidocranial dysplasia 1, forme fruste, dental anomalies only medgen_c5774315 MedGen:C5774315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1T1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1T1 NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Pancytopenia human_phenotype_ontology_hp_0001876_mondo_mondo_0001529_medgen_c0030312 Human_Phenotype_Ontology:HP:0001876,MONDO:MONDO:0001529,MedGen:C0030312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Myelodysplasia human_phenotype_ontology_hp_0002863_human_phenotype_ontology_hp_0004832_human_phenotype_ontology_hp_0006730_medgen_c0026985 Human_Phenotype_Ontology:HP:0002863,Human_Phenotype_Ontology:HP:0004832,Human_Phenotype_Ontology:HP:0006730,MedGen:C0026985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Inherited bleeding disorder, platelet-type mondo_mondo_0000009_mesh_d001791_medgen_c0005818_omim_ps231200_orphanet_248326 MONDO:MONDO:0000009,MeSH:D001791,MedGen:C0005818,OMIM:PS231200,Orphanet:248326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Clonal Cytopenia of Undetermined Significance medgen_c5442191 MedGen:C5442191 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Atypical chronic myeloid leukemia, BCR-ABL1 negative mondo_mondo_0004653_medgen_c1292772_orphanet_98824 MONDO:MONDO:0004653,MedGen:C1292772,Orphanet:98824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Abnormal platelet function human_phenotype_ontology_hp_0011869_medgen_c0855740 Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUBCN condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUBCN Spinocerebellar ataxia type 15/16 mondo_mondo_0011694_medgen_c1847725_omim_606658_orphanet_98769 MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658,Orphanet:98769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTTN RTTN-related disorder rttn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN4IP1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN4IP1 RTN4IP1-related disorder rtn4ip1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN4IP1 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTN4IP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Dyskeratosis congenita, X-linked mondo_mondo_0010584_medgen_c1148551_omim_305000 MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Combined oxidative phosphorylation defect type 24 mondo_mondo_0014547_medgen_c4015643_omim_616239_orphanet_444458 MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Adams-Oliver syndrome 3 mondo_mondo_0013895_medgen_c3553748_omim_614814_orphanet_974 MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Action myoclonus-renal failure syndrome mondo_mondo_0009699_mesh_d020191_medgen_c0751779_omim_254900_orphanet_163696 MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRP1 RhD negative medgen_c4551754 MedGen:C4551754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC2 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC2 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC2 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC2 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSRC1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPRY1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO2 Tetraamelia-multiple malformations syndrome mondo_mondo_0010110_medgen_c2931218_omim_ps273395_orphanet_3301 MONDO:MONDO:0010110,MedGen:C2931218,OMIM:PS273395,Orphanet:3301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO2 Humerofemoral hypoplasia with radiotibial ray deficiency mondo_mondo_0060733_medgen_c4747940_omim_618022 MONDO:MONDO:0060733,MedGen:C4747940,OMIM:618022 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO1 RSPO1-related disorder rspo1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO1 Palmoplantar hyperkeratosis and true hermaphroditism medgen_c2674504 MedGen:C2674504 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPO1 Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH9 RSPH9-related disorder rsph9_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH9 Combined immunodeficiency with skin granulomas mondo_mondo_0009306_medgen_c2673536_omim_233650_orphanet_157949 MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH4A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH4A Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH1 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Peripheral schisis medgen_c4068740 MedGen:C4068740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Nicolaides-Baraitser syndrome mondo_mondo_0011053_medgen_c1303073_omim_601358_orphanet_3051 MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Macular schisis human_phenotype_ontology_hp_0011511_medgen_c4023321 Human_Phenotype_Ontology:HP:0011511,MedGen:C4023321 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRP7A Microcephaly 28, primary, autosomal recessive mondo_mondo_0030339_medgen_c5562069_omim_619453 MONDO:MONDO:0030339,MedGen:C5562069,OMIM:619453 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM2B RRM2B-related disorder rrm2b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM2B Mitochondrial DNA depletion syndrome 8B (MNGIE type) medgen_c3150172 MedGen:C3150172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM1 RRM1-related disorder rrm1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RREB1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RREB1 RREB1-associated Noonan-like syndrome rreb1_associated_noonan_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAS2 RRAS2-related disorder rras2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAS2 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAS2 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAGD condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAGD Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAGD RRAGD-related disorder rragd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRAGC condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS7 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KC1 Periventricular leukomalacia human_phenotype_ontology_hp_0006970_mondo_mondo_0015742_medgen_c0023529 Human_Phenotype_Ontology:HP:0006970,MONDO:MONDO:0015742,MedGen:C0023529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KC1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KC1 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KC1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KC1 Delayed myelination human_phenotype_ontology_hp_0012448_medgen_c1277241 Human_Phenotype_Ontology:HP:0012448,MedGen:C1277241 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KC1 Abnormal cerebral white matter morphology human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Ventricular septal defect human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Triangular face human_phenotype_ontology_hp_0000325_human_phenotype_ontology_hp_0004645_human_phenotype_ontology_hp_0004662_human_phenotype_ontology_hp_0004668_medgen_c1835884 Human_Phenotype_Ontology:HP:0000325,Human_Phenotype_Ontology:HP:0004645,Human_Phenotype_Ontology:HP:0004662,Human_Phenotype_Ontology:HP:0004668,MedGen:C1835884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Thoracolumbar scoliosis human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Thick vermilion border human_phenotype_ontology_hp_0012471_medgen_c1836543 Human_Phenotype_Ontology:HP:0012471,MedGen:C1836543 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Mitral valve prolapse human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Low posterior hairline human_phenotype_ontology_hp_0002162_medgen_c1855728 Human_Phenotype_Ontology:HP:0002162,MedGen:C1855728 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Low anterior hairline human_phenotype_ontology_hp_0000294_medgen_c1842366 Human_Phenotype_Ontology:HP:0000294,MedGen:C1842366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Gastroesophageal reflux human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Dolichocephaly human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Deep philtrum human_phenotype_ontology_hp_0000305_human_phenotype_ontology_hp_0002002_human_phenotype_ontology_hp_0004654_medgen_c1839797 Human_Phenotype_Ontology:HP:0000305,Human_Phenotype_Ontology:HP:0002002,Human_Phenotype_Ontology:HP:0004654,MedGen:C1839797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Clinodactyly human_phenotype_ontology_hp_0030084_medgen_c4551485 Human_Phenotype_Ontology:HP:0030084,MedGen:C4551485 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Abnormality of the lower limb human_phenotype_ontology_hp_0002814_medgen_c1096086 Human_Phenotype_Ontology:HP:0002814,MedGen:C1096086 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS27 Diamond-Blackfan anemia 17 mondo_mondo_0044310_medgen_c4479428_omim_617409 MONDO:MONDO:0044310,MedGen:C4479428,OMIM:617409 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS26 Pure red-cell aplasia human_phenotype_ontology_hp_0012410_mondo_mondo_0001705_medgen_c0034902 Human_Phenotype_Ontology:HP:0012410,MONDO:MONDO:0001705,MedGen:C0034902 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS26 Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS24 Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS23 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS20 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS17 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS15A Diamond-Blackfan anemia 20 mondo_mondo_0032670_medgen_c5193022_omim_618313 MONDO:MONDO:0032670,MedGen:C5193022,OMIM:618313 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS10 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS10 RPS10-related disorder rps10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Wide anterior fontanel human_phenotype_ontology_hp_0000260_medgen_c1866134 Human_Phenotype_Ontology:HP:0000260,MedGen:C1866134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Vaginal hydrocele human_phenotype_ontology_hp_0100673_medgen_cn117565 Human_Phenotype_Ontology:HP:0100673,MedGen:CN117565 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Relative macrocephaly human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 RPL5-related disorder rpl5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Low-set, posteriorly rotated ears human_phenotype_ontology_hp_0000368_medgen_c1857486 Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Lateral ventricle dilatation human_phenotype_ontology_hp_0006796_human_phenotype_ontology_hp_0006945_human_phenotype_ontology_hp_0006956_human_phenotype_ontology_hp_0007173_medgen_c1856409 Human_Phenotype_Ontology:HP:0006796,Human_Phenotype_Ontology:HP:0006945,Human_Phenotype_Ontology:HP:0006956,Human_Phenotype_Ontology:HP:0007173,MedGen:C1856409 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Intracerebral periventricular calcifications human_phenotype_ontology_hp_0007229_medgen_c1837246 Human_Phenotype_Ontology:HP:0007229,MedGen:C1837246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Hypotelorism human_phenotype_ontology_hp_0000601_human_phenotype_ontology_hp_0007877_medgen_c0424711 Human_Phenotype_Ontology:HP:0000601,Human_Phenotype_Ontology:HP:0007877,MedGen:C0424711 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Hepatomegaly human_phenotype_ontology_hp_0001393_human_phenotype_ontology_hp_0001398_human_phenotype_ontology_hp_0002240_medgen_c0019209 Human_Phenotype_Ontology:HP:0001393,Human_Phenotype_Ontology:HP:0001398,Human_Phenotype_Ontology:HP:0002240,MedGen:C0019209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Hemangioma human_phenotype_ontology_hp_0001028_human_phenotype_ontology_hp_0007444_mondo_mondo_0006500_medgen_c0018916 Human_Phenotype_Ontology:HP:0001028,Human_Phenotype_Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Erythroid hypoplasia human_phenotype_ontology_hp_0012133_medgen_c0542035 Human_Phenotype_Ontology:HP:0012133,MedGen:C0542035 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Dry skin human_phenotype_ontology_hp_0000958_medgen_c0151908 Human_Phenotype_Ontology:HP:0000958,MedGen:C0151908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Diamond-Blackfan anemia 1 mondo_mondo_0007110_medgen_c2676137_omim_105650_orphanet_124 MONDO:MONDO:0007110,MedGen:C2676137,OMIM:105650,Orphanet:124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Aplastic anemia human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Aplasia of the ovary human_phenotype_ontology_hp_0010463_medgen_c0266368 Human_Phenotype_Ontology:HP:0010463,MedGen:C0266368 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Abnormal pinna morphology human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL3L condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL35A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL35 Diamond-Blackfan anemia 19 mondo_mondo_0032669_medgen_c5193021_omim_618312 MONDO:MONDO:0032669,MedGen:C5193021,OMIM:618312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL31 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL27 Diamond-Blackfan anemia 16 mondo_mondo_0044309_medgen_c4479424_omim_617408 MONDO:MONDO:0044309,MedGen:C4479424,OMIM:617408 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL21 Hypotrichosis 12 mondo_mondo_0014384_medgen_c4014563_omim_615885_orphanet_55654 MONDO:MONDO:0014384,MedGen:C4014563,OMIM:615885,Orphanet:55654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL18 Diamond-Blackfan anemia 18 mondo_mondo_0032668_medgen_c5193020_omim_618310 MONDO:MONDO:0032668,MedGen:C5193020,OMIM:618310 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Triangular face human_phenotype_ontology_hp_0000325_human_phenotype_ontology_hp_0004645_human_phenotype_ontology_hp_0004662_human_phenotype_ontology_hp_0004668_medgen_c1835884 Human_Phenotype_Ontology:HP:0000325,Human_Phenotype_Ontology:HP:0004645,Human_Phenotype_Ontology:HP:0004662,Human_Phenotype_Ontology:HP:0004668,MedGen:C1835884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Small for gestational age human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Pancytopenia human_phenotype_ontology_hp_0001876_mondo_mondo_0001529_medgen_c0030312 Human_Phenotype_Ontology:HP:0001876,MONDO:MONDO:0001529,MedGen:C0030312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Macrocytic anemia human_phenotype_ontology_hp_0001972_mondo_mondo_0002281_medgen_c0002886 Human_Phenotype_Ontology:HP:0001972,MONDO:MONDO:0002281,MedGen:C0002886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 High forehead human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Failure to thrive in infancy human_phenotype_ontology_hp_0001531_human_phenotype_ontology_hp_0008863_human_phenotype_ontology_hp_0008925_medgen_c1867873 Human_Phenotype_Ontology:HP:0001531,Human_Phenotype_Ontology:HP:0008863,Human_Phenotype_Ontology:HP:0008925,MedGen:C1867873 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL17 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL15 RPL15-related disorder rpl15_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL13 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL13 Hereditary spastic paraplegia 7 mondo_mondo_0011803_medgen_c1846564_omim_607259_orphanet_99013 MONDO:MONDO:0011803,MedGen:C1846564,OMIM:607259,Orphanet:99013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL11 Reticulocytopenia human_phenotype_ontology_hp_0001896_medgen_c0858867 Human_Phenotype_Ontology:HP:0001896,MedGen:C0858867 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL11 RPL11-related disorder rpl11_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL11 Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL10L Spermatogenic failure 63 mondo_mondo_0030515_medgen_c5562055_omim_619689 MONDO:MONDO:0030515,MedGen:C5562055,OMIM:619689 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL10L Spermatogenesis maturation arrest human_phenotype_ontology_hp_0031038_medgen_c4477100 Human_Phenotype_Ontology:HP:0031038,MedGen:C4477100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPIA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPH3A condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L ROGRIP1L-related disorder rogrip1l_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L HP:0003473; HP:0000508 hp_0003473_hp_0000508 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Horizontal nystagmus human_phenotype_ontology_hp_0000666_medgen_c0271385 Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Color vision defect human_phenotype_ontology_hp_0000551_medgen_c0234629 Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Retinitis pigmentosa 6 mondo_mondo_0000910_medgen_c1839368_omim_312612_orphanet_791 MONDO:MONDO:0000910,MedGen:C1839368,OMIM:312612,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Myopia 25, autosomal dominant mondo_mondo_0014982_medgen_c4310655_omim_617238 MONDO:MONDO:0014982,MedGen:C4310655,OMIM:617238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR High myopia, early-onset medgen_c5394216 MedGen:C5394216 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Cone dystrophy 1, X-linked mondo_mondo_0800320_medgen_c1844777 MONDO:MONDO:0800320,MedGen:C1844777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Retinal degeneration human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 RPE65-related retinopathy rpe65_related_retinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Congenital isolated adrenocorticotropic hormone deficiency human_phenotype_ontology_hp_0011748_mondo_mondo_0008720_medgen_c0342388_omim_201400_orphanet_199296 Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Congenital blindness human_phenotype_ontology_hp_0007706_human_phenotype_ontology_hp_0007875_medgen_c0005754 Human_Phenotype_Ontology:HP:0007706,Human_Phenotype_Ontology:HP:0007875,MedGen:C0005754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Autosomal recessive RPE65-related disorders autosomal_recessive_rpe65_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Abnormality of vision human_phenotype_ontology_hp_0000504_medgen_c4025846 Human_Phenotype_Ontology:HP:0000504,MedGen:C4025846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Abnormal electroretinogram human_phenotype_ontology_hp_0000512_human_phenotype_ontology_hp_0003285_medgen_c0476397 Human_Phenotype_Ontology:HP:0000512,Human_Phenotype_Ontology:HP:0003285,MedGen:C0476397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1L1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1L1 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1L1 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROS1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORB Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORB Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORA Severe intellectual deficiency severe_intellectual_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORA Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROR2 Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly medgen_c3151610 MedGen:C3151610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROR2 Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals medgen_c3151609 MedGen:C3151609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO4 ROBO4-related disorder robo4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO3 ROBO3-related disorder robo3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO3 Conjugate gaze palsy mondo_mondo_0001527_medgen_c0702143 MONDO:MONDO:0001527,MedGen:C0702143 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Increased nuchal translucency human_phenotype_ontology_hp_0010880_medgen_c4023676 Human_Phenotype_Ontology:HP:0010880,MedGen:C4023676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU7-1 Temtamy syndrome mondo_mondo_0009033_medgen_c1857512_omim_218340_orphanet_1777 MONDO:MONDO:0009033,MedGen:C1857512,OMIM:218340,Orphanet:1777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU6-9 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU6-8 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU6-1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU5B-1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU5B-1 RNU5B-1-related neurodevelopmental disorder rnu5b_1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU5B-1 RNU5B-1-associated neurodevelopmental disorder rnu5b_1_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU5B-1 RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity mondo_mondo_1060179_medgen_cn379760_omim_621302 MONDO:MONDO:1060179,MedGen:CN379760,OMIM:621302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4ATAC RNU4ATAC-related spliceosomopathies rnu4atac_related_spliceosomopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-2 RNU4-2-related condition rnu4_2_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-2 RNU4-2-associated neurodevelopmental disorder rnu4_2_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-2 Autosomal recessive RNU4-2-related neurodevelopmental disorder autosomal_recessive_rnu4_2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-1 RNU4-2-related condition rnu4_2_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-1 RNU4-2-associated neurodevelopmental disorder rnu4_2_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-1 Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language mondo_mondo_0971172_medgen_c5935628_omim_620851_orphanet_686488 MONDO:MONDO:0971172,MedGen:C5935628,OMIM:620851,Orphanet:686488 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU2-2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU2-2 RNU2-2P-related neurodevelopmental disorder rnu2_2p_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU2-2 Neurodevelopmental disorder with seizures and brain abnormalities mondo_mondo_0859188_medgen_c5561979_omim_619517 MONDO:MONDO:0859188,MedGen:C5561979,OMIM:619517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU2-2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNPC3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF43 Colon serrated polyposis mondo_mondo_0100290_medgen_c3272797 MONDO:MONDO:0100290,MedGen:C3272797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF31 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF216 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF216 Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Stroke disorder human_phenotype_ontology_hp_0001297_human_phenotype_ontology_hp_0002452_mondo_mondo_0005098_mesh_d020521_medgen_c0038454 Human_Phenotype_Ontology:HP:0001297,Human_Phenotype_Ontology:HP:0002452,MONDO:MONDO:0005098,MeSH:D020521,MedGen:C0038454 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Nephrocalcinosis human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Moyamoya disease mondo_mondo_0016820_mesh_d009072_medgen_c0026654_omim_ps252350_orphanet_2573 MONDO:MONDO:0016820,MeSH:D009072,MedGen:C0026654,OMIM:PS252350,Orphanet:2573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Inguinal hernia human_phenotype_ontology_hp_0000023_medgen_c0019294 Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF213 Hemangioma human_phenotype_ontology_hp_0001028_human_phenotype_ontology_hp_0007444_mondo_mondo_0006500_medgen_c0018916 Human_Phenotype_Ontology:HP:0001028,Human_Phenotype_Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF212B Female infertility human_phenotype_ontology_hp_0008222_mondo_mondo_0021124_medgen_c0021361 Human_Phenotype_Ontology:HP:0008222,MONDO:MONDO:0021124,MedGen:C0021361 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF207 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF2 Luo-Schoch-Yamamoto syndrome mondo_mondo_0859171_medgen_c5561946_omim_619460 MONDO:MONDO:0859171,MedGen:C5561946,OMIM:619460 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF170 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF170 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF170 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF170 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF170 Autosomal dominant sensory ataxia 1 mondo_mondo_0012166_medgen_c1837015_omim_608984 MONDO:MONDO:0012166,MedGen:C1837015,OMIM:608984 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF17 Seckel syndrome 5 mondo_mondo_0013443_medgen_c3151187_omim_613823_orphanet_808 MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF17 Microcephaly 1, primary, autosomal recessive mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF17 Arthrogryposis, renal dysfunction, and cholestasis 1 mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF168 RNF168-related disorder rnf168_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF157 Williams syndrome mondo_mondo_0008678_medgen_c0175702_omim_194050_orphanet_904 MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050,Orphanet:904 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF157 Chronic granulomatous disease mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF14 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF14 Coats disease mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF14 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF14 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF135 Macrocephaly, macrosomia, facial dysmorphism syndrome macrocephaly_macrosomia_facial_dysmorphism_syndrome MedGen:CN068456,Orphanet:137634 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF135 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF125 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF125 Tenorio syndrome mondo_mondo_0014553_medgen_c4015710_omim_616260 MONDO:MONDO:0014553,MedGen:C4015710,OMIM:616260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF113A Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASET2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEL Prostate cancer, hereditary, 1 mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2C RNASEH2C-related disorder rnaseh2c_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2C Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities mondo_mondo_0030852_medgen_c5436821_omim_619103 MONDO:MONDO:0030852,MedGen:C5436821,OMIM:619103 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2C Aicardi Goutieres syndrome mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2C Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B Aicardi-Goutieres syndrome 1 mondo_mondo_0009165_medgen_c0796126_omim_225750_orphanet_51 MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2A RNASEH2A-related type 1 interferonopathy mondo_mondo_0700259_medgen_cn377545 MONDO:MONDO:0700259,MedGen:CN377545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH1 Possible mitochondrial disorder - nuclear genes possible_mitochondrial_disorder_nuclear_genes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMP64 Anauxetic dysplasia 3 mondo_mondo_0030019_medgen_c5394289_omim_618853 MONDO:MONDO:0030019,MedGen:C5394289,OMIM:618853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND5B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND1 Mitochondrial oxidative phosphorylation disorder mondo_mondo_0016387_medgen_c5679825_orphanet_223713 MONDO:MONDO:0016387,MedGen:C5679825,Orphanet:223713 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND1 Autosomal recessive Combined oxidative phosphorylation deficiency 11 autosomal_recessive_combined_oxidative_phosphorylation_deficiency_11 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMI1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIM Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Progressive sclerosing poliodystrophy mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLBP1 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Pedal edema human_phenotype_ontology_hp_0010741_medgen_c0239340 Human_Phenotype_Ontology:HP:0010741,MedGen:C0239340 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Megalencephaly-capillary malformation-polymicrogyria syndrome mondo_mondo_0011240_medgen_c1865285_omim_602501_orphanet_60040 MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPPLY2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPPLY2 Klippel-Feil syndrome 2, autosomal recessive mondo_mondo_0008958_medgen_c1859209_omim_214300_orphanet_2345 MONDO:MONDO:0008958,MedGen:C1859209,OMIM:214300,Orphanet:2345 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK4 Curly hair, ankyloblepharon, nail dysplasia syndrome mondo_mondo_0008959_medgen_c0406733_omim_214350_orphanet_1401 MONDO:MONDO:0008959,MedGen:C0406733,OMIM:214350,Orphanet:1401 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIPK1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RINT1 Thyroid cancer, nonmedullary, 1 mondo_mondo_0008567_medgen_c4721429_omim_188550 MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RINT1 RINT1-related disorder rint1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RINT1 Fulminant hepatic failure human_phenotype_ontology_hp_0004448_medgen_c5779644 Human_Phenotype_Ontology:HP:0004448,MedGen:C5779644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIN2 RIN2-related disorder rin2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIMS2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIMS2 Cone-rod synaptic disorder, congenital nonprogressive mondo_mondo_0012490_medgen_c4041558_omim_610427_orphanet_215 MONDO:MONDO:0012490,MedGen:C4041558,OMIM:610427,Orphanet:215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIMS1 Cone-rod dystrophy 7 mondo_mondo_0011355_medgen_c1863634_omim_603649_orphanet_1872 MONDO:MONDO:0011355,MedGen:C1863634,OMIM:603649,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIMS1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIGI condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIGI RIGI-related disorder rigi_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Dysphagia human_phenotype_ontology_hp_0002015_human_phenotype_ontology_hp_0002569_medgen_c0011168 Human_Phenotype_Ontology:HP:0002015,Human_Phenotype_Ontology:HP:0002569,MedGen:C0011168 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Abnormality of the neck human_phenotype_ontology_hp_0000464_medgen_c0266623 Human_Phenotype_Ontology:HP:0000464,MedGen:C0266623 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RICTOR Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RICTOR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIC1 Catifa syndrome mondo_mondo_0032901_medgen_c5231492_omim_618761 MONDO:MONDO:0032901,MedGen:C5231492,OMIM:618761 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOBTB2 Rett syndrome mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOBTB2 RHOBTB2-related disorder rhobtb2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOBTB2 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOBTB2 Chorea human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOA neuro-ectodermal phenotype neuro_ectodermal_phenotype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOA Hemihypertrophy human_phenotype_ontology_hp_0001528_human_phenotype_ontology_hp_0006416_medgen_c0332890 Human_Phenotype_Ontology:HP:0001528,Human_Phenotype_Ontology:HP:0006416,MedGen:C0332890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHOA EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Retinitis punctata albescens mondo_mondo_0018877_medgen_c1405854_orphanet_52427 MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Retinal exudate human_phenotype_ontology_hp_0001147_medgen_c0240897 Human_Phenotype_Ontology:HP:0001147,MedGen:C0240897 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Retinal detachment human_phenotype_ontology_hp_0000541_human_phenotype_ontology_hp_0007864_human_phenotype_ontology_hp_0008021_mondo_mondo_0008375_medgen_c0035305_omim_180050 Human_Phenotype_Ontology:HP:0000541,Human_Phenotype_Ontology:HP:0007864,Human_Phenotype_Ontology:HP:0008021,MONDO:MONDO:0008375,MedGen:C0035305,OMIM:180050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Progressive visual loss human_phenotype_ontology_hp_0000529_human_phenotype_ontology_hp_0000560_human_phenotype_ontology_hp_0007735_human_phenotype_ontology_hp_0007753_human_phenotype_ontology_hp_0007967_medgen_c1839364 Human_Phenotype_Ontology:HP:0000529,Human_Phenotype_Ontology:HP:0000560,Human_Phenotype_Ontology:HP:0007735,Human_Phenotype_Ontology:HP:0007753,Human_Phenotype_Ontology:HP:0007967,MedGen:C1839364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Peripheral visual field loss human_phenotype_ontology_hp_0007994_medgen_c0241688 Human_Phenotype_Ontology:HP:0007994,MedGen:C0241688 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Optic disc drusen human_phenotype_ontology_hp_0012426_mondo_mondo_0001746_medgen_c0029128 Human_Phenotype_Ontology:HP:0012426,MONDO:MONDO:0001746,MedGen:C0029128 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Night blindness human_phenotype_ontology_hp_0000662_human_phenotype_ontology_hp_0007653_human_phenotype_ontology_hp_0007725_human_phenotype_ontology_hp_0007865_human_phenotype_ontology_hp_0007895_mondo_mondo_0004588_medgen_c0028077 Human_Phenotype_Ontology:HP:0000662,Human_Phenotype_Ontology:HP:0007653,Human_Phenotype_Ontology:HP:0007725,Human_Phenotype_Ontology:HP:0007865,Human_Phenotype_Ontology:HP:0007895,MONDO:MONDO:0004588,MedGen:C0028077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Neuropathy, congenital hypomyelinating, 2 mondo_mondo_0020765_medgen_c4722277_omim_618184 MONDO:MONDO:0020765,MedGen:C4722277,OMIM:618184 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Monocular strabismus human_phenotype_ontology_hp_0010877_medgen_c4023678 Human_Phenotype_Ontology:HP:0010877,MedGen:C4023678 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Microcephaly 17, primary, autosomal recessive mondo_mondo_0014908_medgen_c4310723_omim_617090_orphanet_2512 MONDO:MONDO:0014908,MedGen:C4310723,OMIM:617090,Orphanet:2512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Coats disease mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Blurred vision human_phenotype_ontology_hp_0000622_human_phenotype_ontology_hp_0007723_medgen_c0344232 Human_Phenotype_Ontology:HP:0000622,Human_Phenotype_Ontology:HP:0007723,MedGen:C0344232 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Blindness human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Autosomal dominant retinitis pigmentosa medgen_c0339525 MedGen:C0339525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Abnormal retinal pigmentation human_phenotype_ontology_hp_0007703_human_phenotype_ontology_hp_0007741_human_phenotype_ontology_hp_0007743_human_phenotype_ontology_hp_0008051_medgen_c1862475 Human_Phenotype_Ontology:HP:0007703,Human_Phenotype_Ontology:HP:0007741,Human_Phenotype_Ontology:HP:0007743,Human_Phenotype_Ontology:HP:0008051,MedGen:C1862475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHEB Isolated focal cortical dysplasia type II human_phenotype_ontology_hp_0032051_mondo_mondo_0011818_medgen_c1846385_omim_607341_orphanet_268994 Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHEB Hemimegalencephaly human_phenotype_ontology_hp_0007206_mondo_mondo_0020492_medgen_c0431391_orphanet_99802 Human_Phenotype_Ontology:HP:0007206,MONDO:MONDO:0020492,MedGen:C0431391,Orphanet:99802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHD RhD negative medgen_c4551754 MedGen:C4551754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHBDF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHBDF2 Palmoplantar keratoderma-esophageal carcinoma syndrome mondo_mondo_0007856_medgen_c1835664_omim_148500_orphanet_2198 MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500,Orphanet:2198 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHAG Rh deficiency syndrome mondo_mondo_0019107_medgen_c0272052_orphanet_71275 MONDO:MONDO:0019107,MedGen:C0272052,Orphanet:71275 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHAG RHAG-related disorder rhag_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGS9BP Prolonged electroretinal response suppression 2 mondo_mondo_0958190_medgen_c5830452_omim_620344 MONDO:MONDO:0958190,MedGen:C5830452,OMIM:620344 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGS9 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGS2 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGR Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RGR Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXAP MHC class II deficiency 1 mondo_mondo_0971005_medgen_cn377826_omim_209920 MONDO:MONDO:0971005,MedGen:CN377826,OMIM:209920 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXANK MHC class II deficiency 3 mondo_mondo_0971014_medgen_c1859536_omim_620816 MONDO:MONDO:0971014,MedGen:C1859536,OMIM:620816 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXANK Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXANK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX7 RFX7-related disorder rfx7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX6 Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX6 Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX6 Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX3 RFX3-associated neurodevelopmental disorder rfx3_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX3 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFWD3 Fanconi anemia, complementation group W mondo_mondo_0044325_medgen_c4521564_omim_617784 MONDO:MONDO:0044325,MedGen:C4521564,OMIM:617784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFWD3 Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFC5 LUO-AGRAWAL NEURODEVELOPMENTAL SYNDROME luo_agrawal_neurodevelopmental_syndrome MedGen:CN381043,OMIM:621552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFC4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REV3L Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RETREG3 Complex cortical dysplasia with other brain malformations 4 mondo_mondo_0014171_medgen_c3809420_omim_615412 MONDO:MONDO:0014171,MedGen:C3809420,OMIM:615412 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Thyroid gland carcinoma human_phenotype_ontology_hp_0002890_mondo_mondo_0015075_medgen_c0549473_orphanet_100088 Human_Phenotype_Ontology:HP:0002890,MONDO:MONDO:0015075,MedGen:C0549473,Orphanet:100088 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Thyroid carcinoma, sporadic medullary medgen_c1833929 MedGen:C1833929 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Thick vermilion border human_phenotype_ontology_hp_0012471_medgen_c1836543 Human_Phenotype_Ontology:HP:0012471,MedGen:C1836543 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Renal hypodysplasia/aplasia 1 mondo_mondo_0024519_medgen_c1619700_omim_191830_orphanet_411709 MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Multiple endocrine neoplasia II multiple_endocrine_neoplasia_ii . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Multiple endocrine neoplasia mondo_mondo_0017169_medgen_c0027662_omim_ps131100_orphanet_276161 MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA medgen_c4016285 MedGen:C4016285 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Hypothyroidism human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Gingival overgrowth human_phenotype_ontology_hp_0000195_human_phenotype_ontology_hp_0000212_mondo_mondo_0002507_medgen_c0376480 Human_Phenotype_Ontology:HP:0000195,Human_Phenotype_Ontology:HP:0000212,MONDO:MONDO:0002507,MedGen:C0376480 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Constipation human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Abnormality of the digestive system human_phenotype_ontology_hp_0025031_medgen_c0266015 Human_Phenotype_Ontology:HP:0025031,MedGen:C0266015 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REST Wilms tumor 6 mondo_mondo_0014779_medgen_c3891301_omim_616806_orphanet_654 MONDO:MONDO:0014779,MedGen:C3891301,OMIM:616806,Orphanet:654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REST Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REST Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RERE RERE-related disorder rere_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RERE Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RERE Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RERE CHARGE syndrome mondo_mondo_0008965_medgen_c0265354_orphanet_138 MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RERE Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REPS1 Neurodegeneration with brain iron accumulation 7 mondo_mondo_0054763_medgen_c4693583_omim_617916 MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REN Kidney failure mondo_mondo_0001106_medgen_c0035078 MONDO:MONDO:0001106,MedGen:C0035078 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REN HYPERPRORENINEMIA, FAMILIAL medgen_c4016362 MedGen:C4016362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELT condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Synovitis human_phenotype_ontology_hp_0100769_mondo_mondo_0002400_medgen_c0039103 Human_Phenotype_Ontology:HP:0100769,MONDO:MONDO:0002400,MedGen:C0039103 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Sacroiliac joint synovitis human_phenotype_ontology_hp_0012449_medgen_c4022900 Human_Phenotype_Ontology:HP:0012449,MedGen:C4022900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Sacroiliac arthritis human_phenotype_ontology_hp_0012317_mondo_mondo_0007156_medgen_c0748473_omim_108100 Human_Phenotype_Ontology:HP:0012317,MONDO:MONDO:0007156,MedGen:C0748473,OMIM:108100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Low back pain human_phenotype_ontology_hp_0003419_medgen_c0024031 Human_Phenotype_Ontology:HP:0003419,MedGen:C0024031 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Kyphosis human_phenotype_ontology_hp_0002769_human_phenotype_ontology_hp_0002808_human_phenotype_ontology_hp_0003314_medgen_c0022821 Human_Phenotype_Ontology:HP:0002769,Human_Phenotype_Ontology:HP:0002808,Human_Phenotype_Ontology:HP:0003314,MedGen:C0022821 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Inflammation of the large intestine human_phenotype_ontology_hp_0002037_medgen_c0578878 Human_Phenotype_Ontology:HP:0002037,MedGen:C0578878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Enthesitis human_phenotype_ontology_hp_0100686_mondo_mondo_0024419_medgen_c1282952 Human_Phenotype_Ontology:HP:0100686,MONDO:MONDO:0024419,MedGen:C1282952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Arthritis human_phenotype_ontology_hp_0001369_mondo_mondo_0005578_medgen_c0003864 Human_Phenotype_Ontology:HP:0001369,MONDO:MONDO:0005578,MedGen:C0003864 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELB condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELB Immunodeficiency 53 mondo_mondo_0054696_medgen_c4539811_omim_617585_orphanet_688594 MONDO:MONDO:0054696,MedGen:C4539811,OMIM:617585,Orphanet:688594 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELA Mucocutaneous ulceration mucocutaneous_ulceration . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELA Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP6 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP6 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REDIC1 Spermatogenic Failure mondo_mondo_0004983_medgen_c3553794_omim_ps258150 MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Malignant fibrous histiocytoma mondo_mondo_0002142_medgen_c0334463_orphanet_2023 MONDO:MONDO:0002142,MedGen:C0334463,Orphanet:2023 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 High grade surface osteosarcoma mondo_mondo_0006246_medgen_c1266165 MONDO:MONDO:0006246,MedGen:C1266165 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) medgen_c2698314 MedGen:C2698314 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL Malignant neoplastic disease mondo_mondo_0004992_medgen_c0006826 MONDO:MONDO:0004992,MedGen:C0006826 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence REC8 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDX Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDX Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH8 Stargardt disease 5 mondo_mondo_0980722_medgen_c6012746_omim_621259 MONDO:MONDO:0980722,MedGen:C6012746,OMIM:621259 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH5 RDH5-related disorder rdh5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH14 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH14 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Stargardt disease mondo_mondo_0019353_medgen_c0271093_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH11 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RD3 RD3-related disorder rd3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RD3 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RD3 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCOR1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCL1 Psychotic disorder human_phenotype_ontology_hp_0000709_mondo_mondo_0005485_medgen_c0033975 Human_Phenotype_Ontology:HP:0000709,MONDO:MONDO:0005485,MedGen:C0033975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCHY1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCBTB1 RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES retinal_dystrophy_with_extraocular_anomalies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCBTB1 RCBTB1-related disorder rcbtb1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RCBTB1 Familial exudative vitreoretinopathy mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RC3H1 Hemophagocytic lymphohistiocytosis, familial, 6 mondo_mondo_0033557_medgen_c5436563_omim_618998 MONDO:MONDO:0033557,MedGen:C5436563,OMIM:618998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBSN Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities mondo_mondo_0975797_medgen_c5975380_omim_620939 MONDO:MONDO:0975797,MedGen:C5975380,OMIM:620939 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBPJ Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBPJ Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Anophthalmia human_phenotype_ontology_hp_0000528_human_phenotype_ontology_hp_0001485_human_phenotype_ontology_hp_0007664_medgen_c0003119 Human_Phenotype_Ontology:HP:0000528,Human_Phenotype_Ontology:HP:0001485,Human_Phenotype_Ontology:HP:0007664,MedGen:C0003119 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP4 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP3 RBP3-related disorder rbp3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP3 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBP3 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBMX Syndromic X-linked intellectual disability Shashi type mondo_mondo_0010277_medgen_c1846145_omim_300238_orphanet_85286 MONDO:MONDO:0010277,MedGen:C1846145,OMIM:300238,Orphanet:85286 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM8A RBM8A-related disorder rbm8a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM8A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM8A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM8A Clinodactyly of the 5th finger human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM8A Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM5 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM48 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM10 RBM10-related disorder rbm10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM10 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBFOX3 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBFOX1 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBFOX1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBFOX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBFOX1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBCK1 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBCK1 RBCK1-related disorder rbck1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBCK1 Polyglucosanbody Myopathy Typ 1 polyglucosanbody_myopathy_typ_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBCK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBBP7 Spermatogenic failure, X-linked, 9 mondo_mondo_0976123_medgen_c5974893_omim_301137 MONDO:MONDO:0976123,MedGen:C5974893,OMIM:301137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBBP5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBBP5 RBBP5-related syndromic neurodevelopmental condition rbbp5_related_syndromic_neurodevelopmental_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1CC1 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Wooly hair, autosomal recessive 3 mondo_mondo_0014765_medgen_c4225214_omim_616760_orphanet_170 MONDO:MONDO:0014765,MedGen:C4225214,OMIM:616760,Orphanet:170 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Trilateral retinoblastoma mondo_mondo_0003073_medgen_c2608045 MONDO:MONDO:0003073,MedGen:C2608045 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Squamous cell carcinoma human_phenotype_ontology_hp_0002860_mondo_mondo_0005096_mesh_d002294_medgen_c0007137 Human_Phenotype_Ontology:HP:0002860,MONDO:MONDO:0005096,MeSH:D002294,MedGen:C0007137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RB1 Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASSF1 Primary ciliary dyskinesia 22 mondo_mondo_0014192_medgen_c3809543_omim_615444_orphanet_244 MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASL12 Diarrhea human_phenotype_ontology_hp_0002014_medgen_c0011991 Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASL12 Cholestasis human_phenotype_ontology_hp_0001396_mondo_mondo_0001751_medgen_c0008370 Human_Phenotype_Ontology:HP:0001396,MONDO:MONDO:0001751,MedGen:C0008370 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASL12 Bile acid malabsorption, primary, 2 mondo_mondo_0859180_medgen_c5561962_omim_619481 MONDO:MONDO:0859180,MedGen:C5561962,OMIM:619481 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASGRP2 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA2 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Wieacker-Wolff syndrome gene_4183_mondo_mondo_0010758_medgen_c0796200_omim_314580_orphanet_3454_orphanet_85283 Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580,Orphanet:3454,Orphanet:85283 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Hereditary hemorrhagic telangiectasia mondo_mondo_0019180_medgen_c0039445_omim_ps187300_orphanet_774 MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Gorham-Stout disease mondo_mondo_0007414_medgen_c0029438_omim_123880_orphanet_73 MONDO:MONDO:0007414,MedGen:C0029438,OMIM:123880,Orphanet:73 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Capillary malformation human_phenotype_ontology_hp_0025104_mondo_mondo_0016231_medgen_c0340803_orphanet_211247 Human_Phenotype_Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Capillary infantile hemangioma mondo_mondo_0011191_medgen_c1865871_omim_602089 MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS2 RARS2-related disorder rars2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS2 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS1 RARS1-related disorder rars1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARS1 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RARB Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Congenital myasthenic syndrome 4C mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPGEF5 Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAP1B condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Oligodontia human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive mondo_mondo_0013983_medgen_c3539920_omim_614941_orphanet_238468_orphanet_248 MONDO:MONDO:0013983,MedGen:C3539920,OMIM:614941,Orphanet:238468,Orphanet:248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 EDAR-related disorder edar_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALGAPB Septo-optic dysplasia sequence human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALGAPB Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALGAPA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALA Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RALA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Salla disease mondo_mondo_0011449_medgen_c1096903_omim_604369_orphanet_309334_orphanet_834 MONDO:MONDO:0011449,MedGen:C1096903,OMIM:604369,Orphanet:309334,Orphanet:834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Tumor predisposition syndrome 3 mondo_mondo_0014368_medgen_c4014476_omim_615848_orphanet_618 MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Noonan syndrome 3 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L2 TOP2 deficiency type 1 top2_deficiency_type_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L Polymorphous low grade neuroepithelial tumor of the young mondo_mondo_0858959_medgen_c5556330 MONDO:MONDO:0858959,MedGen:C5556330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L Non-Hodgkin lymphoma human_phenotype_ontology_hp_0012539_mondo_mondo_0018908_medgen_c0024305_orphanet_547 Human_Phenotype_Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L Lymphoma, non-Hodgkin, familial mondo_mondo_0011508_medgen_c4721532_omim_605027 MONDO:MONDO:0011508,MedGen:C4721532,OMIM:605027 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L Colon adenocarcinoma human_phenotype_ontology_hp_0040276_mondo_mondo_0002271_medgen_c0338106 Human_Phenotype_Ontology:HP:0040276,MONDO:MONDO:0002271,MedGen:C0338106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54L Breast ductal adenocarcinoma mondo_mondo_0005590_medgen_c1527349 MONDO:MONDO:0005590,MedGen:C1527349 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD54B Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D RAD51D-related disorder rad51d_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Polycystic kidney disease 2 mondo_mondo_0013131_medgen_c2751306_omim_613095 MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Hereditary site-specific ovarian cancer syndrome mondo_mondo_0016249_medgen_cn278678 MONDO:MONDO:0016249,MedGen:CN278678 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Diffuse midline glioma, H3 K27-altered mondo_mondo_1060171_medgen_c5669877 MONDO:MONDO:1060171,MedGen:C5669877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51D Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Hereditary cancer medgen_c1333600 MedGen:C1333600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Familial ovarian carcinoma mondo_mondo_0100514_medgen_c1333992 MONDO:MONDO:0100514,MedGen:C1333992 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51C Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51B RAD51B-related cancer predisposition rad51b_related_cancer_predisposition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51AP2 Spermatogenic failure 88 mondo_mondo_0957821_medgen_c5882706_omim_620547 MONDO:MONDO:0957821,MedGen:C5882706,OMIM:620547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD51 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Neoplasm of the skin human_phenotype_ontology_hp_0008069_mondo_mondo_0002531_medgen_c0037286 Human_Phenotype_Ontology:HP:0008069,MONDO:MONDO:0002531,MedGen:C0037286 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21L1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21 Mungan syndrome gene_100126595_mondo_mondo_0012657_medgen_c1969653_omim_611376 Gene:100126595,MONDO:MONDO:0012657,MedGen:C1969653,OMIM:611376 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21 De Lange syndrome mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21 Cornelia de Lange syndrome 1 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21 Acute megakaryoblastic leukemia in down syndrome mondo_mondo_0020526_medgen_c5925108_orphanet_99887 MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC1 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RABGAP1L Cholesteatoma human_phenotype_ontology_hp_0009797_mondo_mondo_0006530_medgen_c0008373 Human_Phenotype_Ontology:HP:0009797,MONDO:MONDO:0006530,MedGen:C0008373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RABGAP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RABGAP1 Neurodevelopmental disorder, RABGAP1-related neurodevelopmental_disorder_rabgap1_related . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Pelizaeus-Merzbacher disease, mild medgen_c4016484 MedGen:C4016484 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Rib fusion human_phenotype_ontology_hp_0000880_human_phenotype_ontology_hp_0000902_medgen_c0265695 Human_Phenotype_Ontology:HP:0000880,Human_Phenotype_Ontology:HP:0000902,MedGen:C0265695 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Flat face human_phenotype_ontology_hp_0012368_medgen_c1853241 Human_Phenotype_Ontology:HP:0012368,MedGen:C1853241 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 mondo_mondo_0859567_medgen_c5676895_omim_616994 MONDO:MONDO:0859567,MedGen:C5676895,OMIM:616994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 mondo_mondo_0800436_medgen_c5677021_omim_213980_orphanet_1394 MONDO:MONDO:0800436,MedGen:C5677021,OMIM:213980,Orphanet:1394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Bilateral cleft lip and palate human_phenotype_ontology_hp_0002744_medgen_c1398522 Human_Phenotype_Ontology:HP:0002744,MedGen:C1398522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Bifid ribs human_phenotype_ontology_hp_0000892_medgen_c4721788 Human_Phenotype_Ontology:HP:0000892,MedGen:C4721788 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB5IF Abnormality of the vertebral column human_phenotype_ontology_hp_0000925_medgen_c4021789 Human_Phenotype_Ontology:HP:0000925,MedGen:C4021789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP2 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Warburg micro syndrome mondo_mondo_0016649_medgen_c5442005_omim_ps600118_orphanet_2510 MONDO:MONDO:0016649,MedGen:C5442005,OMIM:PS600118,Orphanet:2510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Thoracolumbar scoliosis human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Rigidity human_phenotype_ontology_hp_0002063_medgen_c0026837 Human_Phenotype_Ontology:HP:0002063,MedGen:C0026837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Movement disorder human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Martsolf syndrome mondo_mondo_0023910_medgen_c0796037_omim_ps212720_orphanet_1387 MONDO:MONDO:0023910,MedGen:C0796037,OMIM:PS212720,Orphanet:1387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Infantile axial hypotonia human_phenotype_ontology_hp_0009062_medgen_c3806604 Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Hypertrichosis human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Humeral cortical thickening human_phenotype_ontology_hp_0003868_medgen_c4025542 Human_Phenotype_Ontology:HP:0003868,MedGen:C4025542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Cryptorchidism human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Cortical thickening of humeral diaphysis human_phenotype_ontology_hp_0003928_medgen_c4025500 Human_Phenotype_Ontology:HP:0003928,MedGen:C4025500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Congenital ptosis human_phenotype_ontology_hp_0007970_medgen_c0266573 Human_Phenotype_Ontology:HP:0007970,MedGen:C0266573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Cerebral hypomyelination human_phenotype_ontology_hp_0006808_medgen_c2677328 Human_Phenotype_Ontology:HP:0006808,MedGen:C2677328 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Bilateral microphthalmos human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Abnormal corpus callosum morphology human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3A RAB3A-related condition rab3a_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB39B Parkinson disease, X-linked dominant parkinson_disease_x_linked_dominant MedGen:CN234611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB39B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB39B Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Pes planus human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Foot dorsiflexor weakness human_phenotype_ontology_hp_0003377_human_phenotype_ontology_hp_0009027_medgen_c1866141 Human_Phenotype_Ontology:HP:0003377,Human_Phenotype_Ontology:HP:0009027,MedGen:C1866141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Dystonia 9 mondo_mondo_0010983_medgen_c1832855_omim_601042_orphanet_53583 MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042,Orphanet:53583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB33A AIFM1-related disorder aifm1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB28 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB28 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB27A Multisystem inflammatory syndrome in children medgen_c5391534 MedGen:C5391534 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB27A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB27A Griscelli syndrome mondo_mondo_0018306_medgen_c0398794_omim_ps214450_orphanet_381 MONDO:MONDO:0018306,MedGen:C0398794,OMIM:PS214450,Orphanet:381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB23 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB1A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11B Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11A Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11A Precocious puberty in females human_phenotype_ontology_hp_0010465_mondo_mondo_0018561_medgen_c0271616_orphanet_435561 Human_Phenotype_Ontology:HP:0010465,MONDO:MONDO:0018561,MedGen:C0271616,Orphanet:435561 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11A Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11A EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11A Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11A Delayed fine motor development human_phenotype_ontology_hp_0010862_medgen_c4023681 Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB11A Coarse facial features human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH1 QRICH1-related neurodevelopmental disorder qrich1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH1 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QDPR QDPR-related disorder qdpr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QDPR Hyperphenylalaninemia due to tetrahydrobiopterin deficiency mondo_mondo_0016543_medgen_c0751436_orphanet_238583 MONDO:MONDO:0016543,MedGen:C0751436,Orphanet:238583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QDPR 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency mondo_mondo_0009863_medgen_c0878676_omim_261640_orphanet_13_orphanet_238583 MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:13,Orphanet:238583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QARS1 QARS1-related disorder qars1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QARS1 Intellectual disability, autosomal dominant 43 mondo_mondo_0014858_medgen_c4707429_omim_616977 MONDO:MONDO:0014858,MedGen:C4707429,OMIM:616977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYY Hyperammonemia, type III mondo_mondo_0009377_medgen_c0268543_omim_237310_orphanet_927 MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYURF Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYURF Hyperphosphatasia with intellectual disability syndrome 6 mondo_mondo_0014780_medgen_c4225201_omim_616809_orphanet_247262 MONDO:MONDO:0014780,MedGen:C4225201,OMIM:616809,Orphanet:247262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM Hereditary skeletal muscle disorder mondo_mondo_0700223_medgen_cn324038 MONDO:MONDO:0700223,MedGen:CN324038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR2 Metachromatic leukodystrophy mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 PYCR1- related autosomal recessive cutis laxa pycr1_related_autosomal_recessive_cutis_laxa . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 Abnormality of connective tissue human_phenotype_ontology_hp_0003549_medgen_c4025596 Human_Phenotype_Ontology:HP:0003549,MedGen:C4025596 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PXDN PXDN-related disorder pxdn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PXDN Glaucoma 3A mondo_mondo_0009277_medgen_c1856439_omim_231300_orphanet_98976_orphanet_98977 MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PWWP2A Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS7 Pervasive developmental disorder mondo_mondo_0000594_medgen_c0524528_orphanet_168778 MONDO:MONDO:0000594,MedGen:C0524528,Orphanet:168778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 PUS3-related disorder pus3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS10 Peroxisome biogenesis disorder 11B mondo_mondo_0013950_medgen_c3554001_omim_614885_orphanet_44 MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885,Orphanet:44 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS1 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 mondo_mondo_0009644_medgen_c1854989_omim_252160_orphanet_308393_orphanet_833 MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160,Orphanet:308393,Orphanet:833 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA PURA-related neurodevelopmental disorder pura_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Limb dystonia human_phenotype_ontology_hp_0002451_medgen_c0751093 Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Apnea human_phenotype_ontology_hp_0002104_human_phenotype_ontology_hp_0005936_human_phenotype_ontology_hp_0005958_medgen_c0003578 Human_Phenotype_Ontology:HP:0002104,Human_Phenotype_Ontology:HP:0005936,Human_Phenotype_Ontology:HP:0005958,MedGen:C0003578 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUM1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUM1 PUM1-related disorder pum1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUM1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities mondo_mondo_0032829_medgen_c5231423_omim_618603 MONDO:MONDO:0032829,MedGen:C5231423,OMIM:618603 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 CHARGE syndrome mondo_mondo_0008965_medgen_c0265354_orphanet_138 MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTS Hyperphenylalaninemia due to tetrahydrobiopterin deficiency mondo_mondo_0016543_medgen_c0751436_orphanet_238583 MONDO:MONDO:0016543,MedGen:C0751436,Orphanet:238583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRHD1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRHD1 Parkinsonian disorder human_phenotype_ontology_hp_0001300_mondo_mondo_0021095_medgen_c0242422 Human_Phenotype_Ontology:HP:0001300,MONDO:MONDO:0021095,MedGen:C0242422 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRH2 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRH2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTRH2 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRS NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Unsteady gait human_phenotype_ontology_hp_0002317_medgen_c0231686 Human_Phenotype_Ontology:HP:0002317,MedGen:C0231686 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Pes planus human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Pes cavus human_phenotype_ontology_hp_0001761_medgen_c0728829 Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Pain human_phenotype_ontology_hp_0012531_medgen_c0030193 Human_Phenotype_Ontology:HP:0012531,MedGen:C0030193 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Loss of ambulation human_phenotype_ontology_hp_0002505_human_phenotype_ontology_hp_0006957_medgen_c1836843 Human_Phenotype_Ontology:HP:0002505,Human_Phenotype_Ontology:HP:0006957,MedGen:C1836843 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Impaired vibration sensation in the lower limbs human_phenotype_ontology_hp_0002166_medgen_c1849134 Human_Phenotype_Ontology:HP:0002166,MedGen:C1849134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRJ Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRF Breasts and/or nipples, aplasia or hypoplasia of, 2 mondo_mondo_0014450_medgen_c4014918_omim_616001 MONDO:MONDO:0014450,MedGen:C4014918,OMIM:616001 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRC condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRC Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN4 PTPN4-related disorder ptpn4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN4 PTPN4-related aberrant neurodevelopment and growth ptpn4_related_aberrant_neurodevelopment_and_growth . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN4 PTPN4-related Neurodevelopmental Disorder ptpn4_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN23 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN23 PTPN23-related disorder ptpn23_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN23 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN14 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN14 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN12 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Wide nasal bridge human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Ventricular tachycardia efo_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Vascular disorder mondo_mondo_0005385_medgen_c0042373 MONDO:MONDO:0005385,MedGen:C0042373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Tricuspid regurgitation human_phenotype_ontology_hp_0004753_human_phenotype_ontology_hp_0005180_mondo_mondo_0002870_medgen_c0040961 Human_Phenotype_Ontology:HP:0004753,Human_Phenotype_Ontology:HP:0005180,MONDO:MONDO:0002870,MedGen:C0040961 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Right ventricular hypertrophy human_phenotype_ontology_hp_0001667_medgen_c0162770 Human_Phenotype_Ontology:HP:0001667,MedGen:C0162770 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Patent ductus arteriosus human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Monogenic short stature monogenic_short_stature . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Lymphoma human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Early T cell progenitor acute lymphoblastic leukemia mondo_mondo_0100291_medgen_c4329780 MONDO:MONDO:0100291,MedGen:C4329780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Dysplastic pulmonary valve human_phenotype_ontology_hp_0005164_medgen_c0344974 Human_Phenotype_Ontology:HP:0005164,MedGen:C0344974 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Depressed nasal ridge human_phenotype_ontology_hp_0000457_medgen_c1842876 Human_Phenotype_Ontology:HP:0000457,MedGen:C1842876 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Cleft lip/palate mondo_mondo_0016044_medgen_c0158646_orphanet_199306 MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Cafe-au-lait spot human_phenotype_ontology_hp_0000957_human_phenotype_ontology_hp_0005601_human_phenotype_ontology_hp_0007454_medgen_c0221263 Human_Phenotype_Ontology:HP:0000957,Human_Phenotype_Ontology:HP:0005601,Human_Phenotype_Ontology:HP:0007454,MedGen:C0221263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 CBL-related disorder mondo_mondo_0013308_medgen_c3150803_omim_613563_orphanet_363972 MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Brachycephaly human_phenotype_ontology_hp_0000248_human_phenotype_ontology_hp_0002258_human_phenotype_ontology_hp_0004479_human_phenotype_ontology_hp_0008512_medgen_c0221356_orphanet_35099 Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MedGen:C0221356,Orphanet:35099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 B lymphoblastic leukemia lymphoma, no ICD-O subtype medgen_c3472624 MedGen:C3472624 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Atrial septal defect, ostium secundum type human_phenotype_ontology_hp_0001684_human_phenotype_ontology_hp_0200131_mondo_mondo_0020434_medgen_c0344724_orphanet_99103 Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:99103 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Astrocytic tumor mondo_mondo_0021636_medgen_cn294317_orphanet_94 MONDO:MONDO:0021636,MedGen:CN294317,Orphanet:94 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Abnormal pinna morphology human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN1 Type 1 interferonopathy of childhood mondo_mondo_0957408_medgen_c5681250_orphanet_481671 MONDO:MONDO:0957408,MedGen:C5681250,Orphanet:481671 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN1 Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency autoinflammatory_encephalopathy_due_to_ptpn1_haploinsufficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPMT1 Neurodevelopmental disorder with ataxia and brain abnormalities mondo_mondo_0978300_medgen_c6012724_omim_621199 MONDO:MONDO:0978300,MedGen:C6012724,OMIM:621199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTHLH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH2R Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH1R Pseudohypoparathyroidism human_phenotype_ontology_hp_0000852_mondo_mondo_0019992_medgen_c0033806_orphanet_79443_orphanet_97593 Human_Phenotype_Ontology:HP:0000852,MONDO:MONDO:0019992,MedGen:C0033806,Orphanet:79443,Orphanet:97593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH1R Brachydactyly type E1 mondo_mondo_0007223_medgen_c1862102_omim_113300_orphanet_93387 MONDO:MONDO:0007223,MedGen:C1862102,OMIM:113300,Orphanet:93387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH Primary hyperparathyroidism human_phenotype_ontology_hp_0008200_human_phenotype_ontology_hp_0008254_mondo_mondo_0010837_medgen_c0221002 Human_Phenotype_Ontology:HP:0008200,Human_Phenotype_Ontology:HP:0008254,MONDO:MONDO:0010837,MedGen:C0221002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTH Familial hypoparathyroidism mondo_mondo_0016390_medgen_c1832648_omim_ps146200_orphanet_2238 MONDO:MONDO:0016390,MedGen:C1832648,OMIM:PS146200,Orphanet:2238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTGIS Essential hypertension mondo_mondo_0001134_medgen_c0085580 MONDO:MONDO:0001134,MedGen:C0085580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTGIS Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTGER2 Thyroid hormone resistance, generalized, autosomal dominant mondo_mondo_0008569_medgen_c2937288_omim_188570 MONDO:MONDO:0008569,MedGen:C2937288,OMIM:188570 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTF1A Pancreatic agenesis 2 mondo_mondo_0014406_medgen_c4014737_omim_615935_orphanet_2805 MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTF1A Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTF1A Kallikrein, decreased urinary activity of mondo_mondo_0014415_medgen_c1835808_omim_615953 MONDO:MONDO:0014415,MedGen:C1835808,OMIM:615953 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Vater association with macrocephaly and ventriculomegaly medgen_c2749240 MedGen:C2749240 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Thyroid cancer, nonmedullary, 2 mondo_mondo_0008566_medgen_c4225426_omim_188470 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Syndromic microphthalmia mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome mondo_mondo_0015293_medgen_c4706610_orphanet_137608 MONDO:MONDO:0015293,MedGen:C4706610,Orphanet:137608 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Pigmentary skin disorders pigmentary_skin_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Papillary tumor of the pineal region mondo_mondo_0016724_medgen_c2985219_orphanet_251915 MONDO:MONDO:0016724,MedGen:C2985219,Orphanet:251915 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Myeloproliferative neoplasm, unclassifiable mondo_mondo_0019452_medgen_c1333046_orphanet_86830 MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Mediastinal germ cell tumor mondo_mondo_0021067_medgen_c1334655 MONDO:MONDO:0021067,MedGen:C1334655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Macrocephaly at birth human_phenotype_ontology_hp_0004488_medgen_c1836599 Human_Phenotype_Ontology:HP:0004488,MedGen:C1836599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Loss of consciousness human_phenotype_ontology_hp_0007185_medgen_c0041657 Human_Phenotype_Ontology:HP:0007185,MedGen:C0041657 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Large for gestational age human_phenotype_ontology_hp_0001520_human_phenotype_ontology_hp_0001825_medgen_c1848395 Human_Phenotype_Ontology:HP:0001520,Human_Phenotype_Ontology:HP:0001825,MedGen:C1848395 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Hereditary cancer medgen_c1333600 MedGen:C1333600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Hemangioma human_phenotype_ontology_hp_0001028_human_phenotype_ontology_hp_0007444_mondo_mondo_0006500_medgen_c0018916 Human_Phenotype_Ontology:HP:0001028,Human_Phenotype_Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Hamartomatous polyposis human_phenotype_ontology_hp_0004390_mondo_mondo_0006231_medgen_c3272802 Human_Phenotype_Ontology:HP:0004390,MONDO:MONDO:0006231,MedGen:C3272802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Endometrial hyperplasia without atypia mondo_mondo_0006193_medgen_c1516855 MONDO:MONDO:0006193,MedGen:C1516855 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Cowden syndrome 4 mondo_mondo_0014046_medgen_c3554517_omim_615107_orphanet_201 MONDO:MONDO:0014046,MedGen:C3554517,OMIM:615107,Orphanet:201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Atypical endometrial hyperplasia mondo_mondo_0006096_medgen_c0349579 MONDO:MONDO:0006096,MedGen:C0349579 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Acute megakaryoblastic leukemia human_phenotype_ontology_hp_0006733_mondo_mondo_0018872_mesh_d007947_medgen_c0023462_orphanet_518 Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTEN Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCRA Immunodeficiency 126, susceptibility to mondo_mondo_0975761_medgen_c5975362_omim_620931 MONDO:MONDO:0975761,MedGen:C5975362,OMIM:620931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCHD1 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCHD1 Non-syndromic X-linked intellectual disability mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCHD1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCHD1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH2 Gorlin syndrome mondo_mondo_0007187_medgen_c0004779_omim_ps109400_orphanet_377 MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH2 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH2 Basal cell carcinoma, susceptibility to, 1 mondo_mondo_0011556_medgen_c2751544_omim_605462 MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH2 Basal cell carcinoma, somatic medgen_c3838465 MedGen:C3838465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Precocious puberty human_phenotype_ontology_hp_0000826_mondo_mondo_0000088_medgen_c0034013_orphanet_95708 Human_Phenotype_Ontology:HP:0000826,MONDO:MONDO:0000088,MedGen:C0034013,Orphanet:95708 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Postaxial polydactyly human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Overgrowth human_phenotype_ontology_hp_0001548_medgen_c1849265 Human_Phenotype_Ontology:HP:0001548,MedGen:C1849265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Hereditary skin disorder mondo_mondo_0100118_medgen_cn323672 MONDO:MONDO:0100118,MedGen:CN323672 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Basal cell carcinoma, somatic medgen_c3838465 MedGen:C3838465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Anophthalmia-microphthalmia syndrome medgen_c5680330_orphanet_98555 MedGen:C5680330,Orphanet:98555 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTCD3 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTBP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTBP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSTPIP1 PSTPIP1-related disorder pstpip1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSPH condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSORS1C1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSORS1C1 CDSN-related disorder cdsn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMG2 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMG2 Proteasome-associated autoinflammatory syndrome 4 mondo_mondo_0030931_medgen_c5543053_omim_619183 MONDO:MONDO:0030931,MedGen:C5543053,OMIM:619183 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD12 PSMD12-related disorder psmd12_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD12 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD12 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD11 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD11 PSMD11-associated obesity and neurodevelopmental disorder psmd11_associated_obesity_and_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMD11 PSMD11-Related Disorders psmd11_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC5 PSMC5-related Neurodevelopmental proteasomopathy psmc5_related_neurodevelopmental_proteasomopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC5 Neurodevelopmental disorders neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC5 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3IP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3IP 46 XX gonadal dysgenesis mondo_mondo_0009299_mesh_d023961_medgen_c0685837_omim_ps233300_orphanet_243 MONDO:MONDO:0009299,MeSH:D023961,MedGen:C0685837,OMIM:PS233300,Orphanet:243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Severe sensorineural hearing impairment human_phenotype_ontology_hp_0008534_human_phenotype_ontology_hp_0008574_human_phenotype_ontology_hp_0008625_medgen_c4021533 Human_Phenotype_Ontology:HP:0008534,Human_Phenotype_Ontology:HP:0008574,Human_Phenotype_Ontology:HP:0008625,MedGen:C4021533 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Patent foramen ovale human_phenotype_ontology_hp_0001655_mondo_mondo_0020439_medgen_c0016522 Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Patent ductus arteriosus human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 PSMC3-Related Neurodevelopmental Delay psmc3_related_neurodevelopmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Microretrognathia human_phenotype_ontology_hp_0000308_medgen_c1839546 Human_Phenotype_Ontology:HP:0000308,MedGen:C1839546 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 High anterior hairline human_phenotype_ontology_hp_0009890_medgen_c3276036 Human_Phenotype_Ontology:HP:0009890,MedGen:C3276036 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Developmental dysplasia of the hip human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Deafness, cataract, impaired intellectual development, and polyneuropathy mondo_mondo_0859159_medgen_c5543482_omim_619354 MONDO:MONDO:0859159,MedGen:C5543482,OMIM:619354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Atrial septal defect, ostium secundum type human_phenotype_ontology_hp_0001684_human_phenotype_ontology_hp_0200131_mondo_mondo_0020434_medgen_c0344724_orphanet_99103 Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:99103 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC3 Abnormality of the pulmonary veins human_phenotype_ontology_hp_0011718_mondo_mondo_0020295_medgen_c0265914_orphanet_98729 Human_Phenotype_Ontology:HP:0011718,MONDO:MONDO:0020295,MedGen:C0265914,Orphanet:98729 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMC1 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss mondo_mondo_0859296_medgen_c5774229_omim_620071 MONDO:MONDO:0859296,MedGen:C5774229,OMIM:620071 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB9 proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) proteasome_associated_autoinflammatory_syndrome_with_immunodeficiency_praas_id . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB9 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB9 Proteasome-associated autoinflammatory syndrome 6 mondo_mondo_0968983_medgen_c5935614_omim_620796 MONDO:MONDO:0968983,MedGen:C5935614,OMIM:620796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB8 PSMB8-related disorder psmb8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB8 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC medgen_c4749059 MedGen:C4749059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB8 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB4 Proteasome-associated autoinflammatory syndrome 3 mondo_mondo_0054699_medgen_c4747850_omim_617591 MONDO:MONDO:0054699,MedGen:C4747850,OMIM:617591 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB4 Proteasome-associated autoinflammatory syndrome 1 mondo_mondo_0054698_medgen_c4746851_omim_256040_orphanet_2615_orphanet_324977_orphanet_324999_orphanet_325004 MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB10 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSMB1 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language mondo_mondo_0859287_medgen_c5774216_omim_620038 MONDO:MONDO:0859287,MedGen:C5774216,OMIM:620038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Visual hallucination human_phenotype_ontology_hp_0002367_medgen_c0233763 Human_Phenotype_Ontology:HP:0002367,MedGen:C0233763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Telangiectasia, hereditary hemorrhagic, type 1 mondo_mondo_0008535_medgen_c4551861_omim_187300_orphanet_774 MONDO:MONDO:0008535,MedGen:C4551861,OMIM:187300,Orphanet:774 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Spastic paraparesis human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Early onset Alzheimer disease with behavioral disturbance medgen_c3697680 MedGen:C3697680 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Auditory hallucination human_phenotype_ontology_hp_0000714_human_phenotype_ontology_hp_0008765_medgen_c0233762 Human_Phenotype_Ontology:HP:0000714,Human_Phenotype_Ontology:HP:0008765,MedGen:C0233762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Alzheimer disease familial 3, with spastic paraparesis medgen_c4015782 MedGen:C4015782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Adult onset neurodegenerative disorder adult_onset_neurodegenerative_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSD condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSD Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSD Immunodeficiency, common variable, 10 mondo_mondo_0014260_medgen_c3809991_omim_615577 MONDO:MONDO:0014260,MedGen:C3809991,OMIM:615577 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSD Common variable immunodeficiency mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAT1 Neurometabolic disorder due to serine deficiency mondo_mondo_0018162_medgen_c5680148_orphanet_35705 MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Progressive peripheral neuropathy human_phenotype_ontology_hp_0007133_human_phenotype_ontology_hp_0007329_medgen_c1859178 Human_Phenotype_Ontology:HP:0007133,Human_Phenotype_Ontology:HP:0007329,MedGen:C1859178 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Progressive gait ataxia human_phenotype_ontology_hp_0002142_human_phenotype_ontology_hp_0007240_medgen_c1843885 Human_Phenotype_Ontology:HP:0002142,Human_Phenotype_Ontology:HP:0007240,MedGen:C1843885 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Gaucher disease mondo_mondo_0018150_medgen_c0017205_orphanet_355 MONDO:MONDO:0018150,MedGen:C0017205,Orphanet:355 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS56 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS56 PRSS56-related disorder prss56_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS23 FZD4-related disorder fzd4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS23 Exudative vitreoretinopathy, digenic medgen_c1858262 MedGen:C1858262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS23 Atrophia bulborum hereditaria human_phenotype_ontology_hp_6000262_mondo_mondo_0010691_medgen_c0266526_omim_310600_orphanet_649 Human_Phenotype_Ontology:HP:6000262,MONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600,Orphanet:649 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS1 Recurrent pancreatitis human_phenotype_ontology_hp_0100027_medgen_c4551632 Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRX1 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Self-limited familial infantile epilepsy mondo_mondo_0100024_medgen_cn322666 MONDO:MONDO:0100024,MedGen:CN322666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Paroxysmal nonkinesigenic dyskinesia 1 mondo_mondo_0700089_medgen_c4551506_omim_118800_orphanet_98810 MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800,Orphanet:98810 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Paroxysmal central nervous system disorders paroxysmal_central_nervous_system_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 PRRT2-Associated Paroxysmal Movement Disorders prrt2_associated_paroxysmal_movement_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 PRRT2 insufficiency prrt2_insufficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis episodic_kinesigenic_dyskinesia_and_familial_infantile_convulsions_with_paroxysmal_choreoathetosis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Convulsions medgen_c4048158 MedGen:C4048158 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Benign familial neonatal-infantile seizures 1 mondo_mondo_0042499_medgen_c4551769_omim_601764_orphanet_306 MONDO:MONDO:0042499,MedGen:C4551769,OMIM:601764,Orphanet:306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Autosomal dominant PRRT2-related disorders autosomal_dominant_prrt2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPS1 PRPS1-related disorder prps1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Retinitis punctata albescens, autosomal dominant medgen_c4016358 MedGen:C4016358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Retinitis pigmentosa 7, digenic mondo_mondo_1060144_medgen_c2675552 MONDO:MONDO:1060144,MedGen:C2675552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Progressive cone dystrophy (without rod involvement) medgen_c0271092 MedGen:C0271092 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Pigmentary retinopathy human_phenotype_ontology_hp_0000580_human_phenotype_ontology_hp_0007702_human_phenotype_ontology_hp_0007821_human_phenotype_ontology_hp_0007869_human_phenotype_ontology_hp_0007961_human_phenotype_ontology_hp_0008010_medgen_c4551715 Human_Phenotype_Ontology:HP:0000580,Human_Phenotype_Ontology:HP:0007702,Human_Phenotype_Ontology:HP:0007821,Human_Phenotype_Ontology:HP:0007869,Human_Phenotype_Ontology:HP:0007961,Human_Phenotype_Ontology:HP:0008010,MedGen:C4551715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 PRPH2-associated retinal disease prph2_associated_retinal_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Macular degeneration human_phenotype_ontology_hp_0000608_human_phenotype_ontology_hp_0007694_mondo_mondo_0003004_medgen_c0024437 Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Doyne honeycomb retinal dystrophy mondo_mondo_0007471_medgen_c1832174_omim_126600_orphanet_75376 MONDO:MONDO:0007471,MedGen:C1832174,OMIM:126600,Orphanet:75376 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Central areolar choroidal dystrophy mondo_mondo_0008982_medgen_c1536451_omim_ps215500_orphanet_75377 MONDO:MONDO:0008982,MedGen:C1536451,OMIM:PS215500,Orphanet:75377 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Blurred vision human_phenotype_ontology_hp_0000622_human_phenotype_ontology_hp_0007723_medgen_c0344232 Human_Phenotype_Ontology:HP:0000622,Human_Phenotype_Ontology:HP:0007723,MedGen:C0344232 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Autosomal recessive bestrophinopathy mondo_mondo_0012733_medgen_c3888198_omim_611809_orphanet_139455 MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809,Orphanet:139455 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Abnormal retinal pigmentation human_phenotype_ontology_hp_0007703_human_phenotype_ontology_hp_0007741_human_phenotype_ontology_hp_0007743_human_phenotype_ontology_hp_0008051_medgen_c1862475 Human_Phenotype_Ontology:HP:0007703,Human_Phenotype_Ontology:HP:0007741,Human_Phenotype_Ontology:HP:0007743,Human_Phenotype_Ontology:HP:0008051,MedGen:C1862475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF8 Autosomal dominant retinitis pigmentosa medgen_c0339525 MedGen:C0339525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF6 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF6 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF4 Retinitis pigmentosa 70 mondo_mondo_0014400_medgen_c4014681_omim_615922_orphanet_791 MONDO:MONDO:0014400,MedGen:C4014681,OMIM:615922,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF31 Early-onset retinitis pigmentosa early_onset_retinitis_pigmentosa . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF31 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF19 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF18 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome mondo_mondo_0014787_medgen_c4225193_omim_616819_orphanet_466688 MONDO:MONDO:0014787,MedGen:C4225193,OMIM:616819,Orphanet:466688 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROS1 Hereditary thrombophilia due to congenital protein S deficiency mondo_mondo_0019144_medgen_c2584611_orphanet_743 MONDO:MONDO:0019144,MedGen:C2584611,Orphanet:743 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRORP Perrault syndrome 1 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROP1 46,XY partial gonadal dysgenesis mondo_mondo_0016674_medgen_c4510744_orphanet_251510 MONDO:MONDO:0016674,MedGen:C4510744,Orphanet:251510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROKR2 PROKR2-related disorder prokr2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROKR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROKR2 Hypogonadotropic hypogonadism 2 with or without anosmia mondo_mondo_0007844_medgen_c1563720_omim_147950_orphanet_478 MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROK2 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRODH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Thrombophilia 3 due to protein C deficiency thrombophilia_3_due_to_protein_c_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Abnormal thrombosis human_phenotype_ontology_hp_0001977_medgen_c4025731 Human_Phenotype_Ontology:HP:0001977,MedGen:C4025731 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRNP PRNP-associated condition prnp_associated_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT9 PRMT9-associated neurodevelopmental disorder prmt9_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 PRMT7-related disorder prmt7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRLR Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKRA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKRA PRKRA-related disorder prkra_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Parkinson disease 12 mondo_mondo_0010360_medgen_c1845165_omim_300557_orphanet_2828 MONDO:MONDO:0010360,MedGen:C1845165,OMIM:300557,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Parkinson disease mondo_mondo_0005180_mesh_d010300_medgen_c0030567_omim_ps168600 MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Lung carcinoma mondo_mondo_0005138_medgen_c0684249 MONDO:MONDO:0005138,MedGen:C0684249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Leprosy, susceptibility to, 2 mondo_mondo_0011860_medgen_c1843632_omim_607572_orphanet_548 MONDO:MONDO:0011860,MedGen:C1843632,OMIM:607572,Orphanet:548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Autosomal dominant Parkinson disease 1 mondo_mondo_0008200_medgen_c1868595_omim_168601 MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKG2 Spondylometaphyseal dysplasia, pagnamenta type mondo_mondo_0030487_medgen_c5562030_omim_619638 MONDO:MONDO:0030487,MedGen:C5562030,OMIM:619638 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKG1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKG1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKG1 Aortic aneurysm, familial thoracic 8 mondo_mondo_0014187_medgen_c3809513_omim_615436 MONDO:MONDO:0014187,MedGen:C3809513,OMIM:615436 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKDC Immunodeficiency 26 without neurologic abnormalities medgen_c4016698 MedGen:C4016698 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKD1 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCSH PRKCSH-related disorder prkcsh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCSH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCE condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCE PRKCE-associated disorder prkce_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCB Progressive sensorineural hearing impairment human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1B Primary ciliary dyskinesia 18 mondo_mondo_0013940_medgen_c3543825_omim_614874_orphanet_244 MONDO:MONDO:0013940,MedGen:C3543825,OMIM:614874,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1B PRKAR1B-related neurodevelopmental disorder prkar1b_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Usher syndrome, type 4 mondo_mondo_0029141_medgen_c4748364_omim_618144 MONDO:MONDO:0029141,MedGen:C4748364,OMIM:618144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A FAM20A-related disorder fam20a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Arrhythmogenic right ventricular dysplasia 10 mondo_mondo_0012434_medgen_c1857777_omim_610193 MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis albright_hereditary_osteodystrophy_pseudohypoparathyroidism_pseudopseudohypoparathyroidism_acrodysostosis_and_osteoma_cutis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Adrenocortical tumor, somatic medgen_c4016392 MedGen:C4016392 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Wolff-Parkinson-White syndrome, childhood-onset medgen_c4016809 MedGen:C4016809 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 PRKAG2 syndrome prkag2_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAG2 Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome familial_hypertrophic_cardiomyopathy_with_wolff_parkinson_white_syndrome MedGen:CN239247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKACA Cardioacrofacial dysplasia 1 mondo_mondo_0030876_medgen_c5436885_omim_619142 MONDO:MONDO:0030876,MedGen:C5436885,OMIM:619142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKACA ACTH-independent adrenal Cushing syndrome, somatic mondo_mondo_0800377_medgen_cn322664 MONDO:MONDO:0800377,MedGen:CN322664 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRIM1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRICKLE2 Progressive myoclonic epilepsy type 5 medgen_c5190799_orphanet_402082 MedGen:C5190799,Orphanet:402082 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRICKLE1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRG4 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 Familial hemophagocytic lymphohistiocytosis type 1 mondo_mondo_0009974_medgen_c4551514_omim_267700_orphanet_540 MONDO:MONDO:0009974,MedGen:C4551514,OMIM:267700,Orphanet:540 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREX2 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREPL Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDX3 Autosomal recessive cerebellar ataxia mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDX1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDX1 Cobalamin C disease mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM8 Early-onset Lafora body disease mondo_mondo_0014717_medgen_c4225258_omim_616640_orphanet_324290 MONDO:MONDO:0014717,MedGen:C4225258,OMIM:616640,Orphanet:324290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM5 PRDM5-related disorder prdm5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM5 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM2 Flexion contracture human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM16 PRDM16-related congenital heart disease prdm16_related_congenital_heart_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM16 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM16 Cardiomyopathy, dilated, 1LL mondo_mondo_0800367_medgen_c3809289 MONDO:MONDO:0800367,MedGen:C3809289 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM15 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM15 Pervasive developmental disorder mondo_mondo_0000594_medgen_c0524528_orphanet_168778 MONDO:MONDO:0000594,MedGen:C0524528,Orphanet:168778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM13 maculopathy maculopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM13 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM13 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism mondo_mondo_0859229_medgen_c5676924_omim_619761 MONDO:MONDO:0859229,MedGen:C5676924,OMIM:619761 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRB3 PRB3S(CYS) prb3s_cys . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRB3 PRB3M(NULL) prb3m_null . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 Hyperactivity human_phenotype_ontology_hp_0000752_human_phenotype_ontology_hp_0008764_medgen_c0424295 Human_Phenotype_Ontology:HP:0000752,Human_Phenotype_Ontology:HP:0008764,MedGen:C0424295 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 Neuronal Ceroid-Lipofuscinosis, Recessive neuronal_ceroid_lipofuscinosis_recessive . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP6R2 Charcot-Marie-Tooth disease type 4B3 mondo_mondo_0014117_medgen_c3695063_omim_615284_orphanet_363981 MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP3CA Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP3CA PPP3CA-related disorder ppp3ca_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP3CA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP3CA Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Genetic developmental and epileptic encephalopathy mondo_mondo_0100062_medgen_cn379639_omim_ps308350 MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5C PPP2R5C-related neurodevelopmental disorder ppp2r5c_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5C Hogue-Janssens syndrome 1 mondo_mondo_0014602_medgen_c5779996_omim_616355_orphanet_457279 MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5C Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R3C FAM177A1-related disorder fam177a1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R1B Lung carcinoma mondo_mondo_0005138_medgen_c0684249 MONDO:MONDO:0005138,MedGen:C0684249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R1A PPP2R1A-related neurodevelopmental disorders ppp2r1a_related_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R1A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2CA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R3F condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R3F PPP1R3F-related neurodevelopmental disorder ppp1r3f_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R35 Progressive microcephaly human_phenotype_ontology_hp_0000253_medgen_c1850456 Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R21 Neurodevelopmental disorder with hypotonia neurodevelopmental_disorder_with_hypotonia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R21 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R13L Orofacial cleft human_phenotype_ontology_hp_0000202_mondo_mondo_0000358_medgen_c3266076_omim_ps119530 Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R13L OMIM:607463 omim_607463 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R13L Multiple congenital anomalies/dysmorphic syndrome mondo_mondo_0019042_medgen_c5681310_orphanet_68341 MONDO:MONDO:0019042,MedGen:C5681310,Orphanet:68341 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R13L Cardio-cutaneous syndrome cardio_cutaneous_syndrome MedGen:CN262501 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R12A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R12A Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB PPP1CB-related disorder ppp1cb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB Noonan syndrome-like disorder with loose anagen hair mondo_mondo_0011899_medgen_c1843181_omim_ps607721_orphanet_2701 MONDO:MONDO:0011899,MedGen:C1843181,OMIM:PS607721,Orphanet:2701 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1CB Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Porphyrinuria human_phenotype_ontology_hp_0010473_medgen_c0151861 Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Migraine human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Constipation human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Abnormal urinary color human_phenotype_ontology_hp_0012086_medgen_c0522153 Human_Phenotype_Ontology:HP:0012086,MedGen:C0522153 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPOX Abdominal colic human_phenotype_ontology_hp_0011848_medgen_c0232488 Human_Phenotype_Ontology:HP:0011848,MedGen:C0232488 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1E Mulibrey nanism syndrome mondo_mondo_0009664_medgen_c0524582_omim_253250_orphanet_2576 MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1D PPM1D-related disorder ppm1d_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1D Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1D Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1D Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPIL1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPIL1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIBP1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIA3 PPFIA3-related neurodevelopmental disorder mondo_mondo_1040014_medgen_cn378762 MONDO:MONDO:1040014,MedGen:CN378762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPFIA3 PPFIA3-associated neurodevelopmental disorder ppfia3_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPCS condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG Lipodystrophy human_phenotype_ontology_hp_0009125_mondo_mondo_0006573_medgen_c0023787 Human_Phenotype_Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C0023787 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG INSULIN RESISTANCE, DIGENIC medgen_c4016738 MedGen:C4016738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG Familial partial lipodystrophy mondo_mondo_0020088_medgen_c0271694_omim_ps151660_orphanet_98306 MONDO:MONDO:0020088,MedGen:C0271694,OMIM:PS151660,Orphanet:98306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG DIABETES MELLITUS, TYPE II, DIGENIC medgen_c4017629 MedGen:C4017629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG CAROTID INTIMAL MEDIAL THICKNESS 1 medgen_c1836302_omim_609338 MedGen:C1836302,OMIM:609338 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F3 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F3 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F3 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F3 Autosomal recessive sensorineural hearing loss autosomal_recessive_sensorineural_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 X-linked nonsyndromic hearing loss mondo_mondo_0019586_medgen_c5680192_orphanet_90625 MONDO:MONDO:0019586,MedGen:C5680192,Orphanet:90625 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 POU3F4-related disorder pou3f4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 Autosomal recessive sensorineural hearing loss autosomal_recessive_sensorineural_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F3 POU3F3-related disorder pou3f3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F3 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F2 POU3F2-associated disorder pou3f2_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU1F1 Leber congenital amaurosis 5 mondo_mondo_0011473_medgen_c1858301_omim_604537_orphanet_65 MONDO:MONDO:0011473,MedGen:C1858301,OMIM:604537,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU1F1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 Polycystic kidney disease 4 mondo_mondo_0033004_medgen_c4540575_omim_263200 MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 POT1-related disorder pot1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 High-grade astrocytoma with piloid features mondo_mondo_0858958_medgen_c5670122 MONDO:MONDO:0858958,MedGen:C5670122 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PORCN PORCN-related developmental disorders porcn_related_developmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PORCN Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PORCN Anophthalmia-microphthalmia syndrome medgen_c5680330_orphanet_98555 MedGen:C5680330,Orphanet:98555 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR Fine-Lubinsky syndrome mondo_mondo_0011049_medgen_c0795941_omim_601353_orphanet_1272 MONDO:MONDO:0011049,MedGen:C0795941,OMIM:601353,Orphanet:1272 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POPDC1 Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POP1 POP1-related disorder pop1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies medgen_c5679924_orphanet_352687 MedGen:C5679924,Orphanet:352687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Muscular dystrophy-dystroglycanopathy, type C mondo_mondo_0000173_medgen_cn262500_omim_ps609308 MONDO:MONDO:0000173,MedGen:CN262500,OMIM:PS609308 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Limb-girdle muscular dystrophy due to POMK deficiency mondo_mondo_0014489_medgen_c4015184_omim_616094_orphanet_445110 MONDO:MONDO:0014489,MedGen:C4015184,OMIM:616094,Orphanet:445110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Abnormal brainstem morphology human_phenotype_ontology_hp_0002363_medgen_c1850601 Human_Phenotype_Ontology:HP:0002363,MedGen:C1850601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies medgen_c5679924_orphanet_352687 MedGen:C5679924,Orphanet:352687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Autosomal recessive POMGNT1-related disorders autosomal_recessive_pomgnt1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLRMT Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3H Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3F Immunodeficiency 101 (varicella zoster virus-specific) mondo_mondo_0030813_medgen_c5676983_omim_619872 MONDO:MONDO:0030813,MedGen:C5676983,OMIM:619872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B VISS syndrome mondo_mondo_0859177_medgen_c5561955_omim_619472 MONDO:MONDO:0859177,MedGen:C5561955,OMIM:619472 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Movement disorder human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Hypomyelinating leukodystrophy 4 mondo_mondo_0012824_medgen_c2677109_omim_612233_orphanet_280270_orphanet_280288 MONDO:MONDO:0012824,MedGen:C2677109,OMIM:612233,Orphanet:280270,Orphanet:280288 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Adult onset hereditary spastic paraplegia adult_onset_hereditary_spastic_paraplegia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Waardenburg syndrome mondo_mondo_0018094_medgen_c3266898_omim_ps193500_orphanet_3440 MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Hirschsprung disease, susceptibility to, 1 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Aganglionic megacolon human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2E Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2B Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1D Treacher Collins syndrome mondo_mondo_0002457_medgen_c0242387_omim_ps154500_orphanet_861 MONDO:MONDO:0002457,MedGen:C0242387,OMIM:PS154500,Orphanet:861 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1C Leukoencephalopathy, progressive, with ovarian failure mondo_mondo_0014387_medgen_c4014588_omim_615889_orphanet_99853 MONDO:MONDO:0014387,MedGen:C4014588,OMIM:615889,Orphanet:99853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1A POLR1A-related disorder polr1a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1A Leukodystrophy, hypomyelinating, 27 mondo_mondo_0958018_medgen_c5882743_omim_620675 MONDO:MONDO:0958018,MedGen:C5882743,OMIM:620675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLK condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLK Intellectual disability, autosomal dominant 34 mondo_mondo_0014599_medgen_c4225156_omim_616351 MONDO:MONDO:0014599,MedGen:C4225156,OMIM:616351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLH POLH-related disorder polh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF mitochondrial hepatopathy medgen_c1328348 MedGen:C1328348 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Mitochondrial neurogastrointestinal encephalomyopathy mondo_mondo_0017575_medgen_c0872218_orphanet_298 MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Alpers-like hepatocerebral syndrome alpers_like_hepatocerebral_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Abnormality of corpus callosum abnormality_of_corpus_callosum . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG2 Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) mondo_mondo_0030326_medgen_c5543632_omim_619425 MONDO:MONDO:0030326,MedGen:C5543632,OMIM:619425 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG2 Mitochondrial DNA depletion syndrome 16 (hepatic type) mondo_mondo_0032799_medgen_c5193142_omim_618528 MONDO:MONDO:0032799,MedGen:C5193142,OMIM:618528 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG mitochondrial hepatopathy medgen_c1328348 MedGen:C1328348 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Recessive mitochondrial ataxia syndrome mondo_mondo_0019791_medgen_c4760799_orphanet_94125 MONDO:MONDO:0019791,MedGen:C4760799,Orphanet:94125 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic medgen_c1868097 MedGen:C1868097 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions mondo_mondo_0000090_medgen_cn294859_omim_ps157640 MONDO:MONDO:0000090,MedGen:CN294859,OMIM:PS157640 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Neonatal seizure human_phenotype_ontology_hp_0032807_medgen_c0159020 Human_Phenotype_Ontology:HP:0032807,MedGen:C0159020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Mitochondrial neurogastrointestinal encephalomyopathy mondo_mondo_0017575_medgen_c0872218_orphanet_298 MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG MELAS syndrome mondo_mondo_0010789_medgen_c0162671_omim_540000_orphanet_550 MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Generalized epilepsy mondo_mondo_0100574_medgen_c0014548 MONDO:MONDO:0100574,MedGen:C0014548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG FANCI-related disorder fanci_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Alpers-like hepatocerebral syndrome alpers_like_hepatocerebral_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Abnormality of corpus callosum abnormality_of_corpus_callosum . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Polymerase proofreading-related adenomatous polyposis mondo_mondo_0018653_medgen_c5202613_orphanet_447877 MONDO:MONDO:0018653,MedGen:C5202613,Orphanet:447877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE POLE-related polyposis and colorectal cancer syndrome mondo_mondo_0100287_medgen_cn324030 MONDO:MONDO:0100287,MedGen:CN324030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Familial colorectal cancer type X mondo_mondo_0018604_medgen_c3896578_orphanet_440437 MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Familial colorectal cancer mondo_mondo_0023113_medgen_cn280943 MONDO:MONDO:0023113,MedGen:CN280943 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Cystic fibrosis-gastritis-megaloblastic anemia syndrome mondo_mondo_0009062_medgen_c3806255_omim_219721_orphanet_2575 MONDO:MONDO:0009062,MedGen:C3806255,OMIM:219721,Orphanet:2575 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Colorectal carcinoma mondo_mondo_0024331_medgen_c0009402 MONDO:MONDO:0024331,MedGen:C0009402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLE Autosomal dominant nonsyndromic hearing loss 41 mondo_mondo_0011994_medgen_c1842371_omim_608224_orphanet_90635 MONDO:MONDO:0011994,MedGen:C1842371,OMIM:608224,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLD1 POLD1-related disorder pold1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLD1 Mandibular hypoplasia-deafness-progeroid syndrome mondo_mondo_0014157_medgen_c3715192_omim_615381_orphanet_363649 MONDO:MONDO:0014157,MedGen:C3715192,OMIM:615381,Orphanet:363649 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLD1 Lipodystrophy - childhood onset lipodystrophy_childhood_onset . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLD1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLD1 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLA1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLA1 X-linked reticulate pigmentary disorder mondo_mondo_0010523_medgen_c1845050_omim_301220_orphanet_85453 MONDO:MONDO:0010523,MedGen:C1845050,OMIM:301220,Orphanet:85453 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLA1 Myopia 25, autosomal dominant mondo_mondo_0014982_medgen_c4310655_omim_617238 MONDO:MONDO:0014982,MedGen:C4310655,OMIM:617238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLA1 High myopia, early-onset medgen_c5394216 MedGen:C5394216 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ dysmorphy dysmorphy MedGen:CN239859 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Wide mouth human_phenotype_ontology_hp_0000154_human_phenotype_ontology_hp_0000181_human_phenotype_ontology_hp_0002052_medgen_c0024433 Human_Phenotype_Ontology:HP:0000154,Human_Phenotype_Ontology:HP:0000181,Human_Phenotype_Ontology:HP:0002052,MedGen:C0024433 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Truncal obesity human_phenotype_ontology_hp_0001956_human_phenotype_ontology_hp_0008885_medgen_c4551560 Human_Phenotype_Ontology:HP:0001956,Human_Phenotype_Ontology:HP:0008885,MedGen:C4551560 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Speech apraxia human_phenotype_ontology_hp_0011098_medgen_c0264611 Human_Phenotype_Ontology:HP:0011098,MedGen:C0264611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Smith-Magenis Syndrome-like smith_magenis_syndrome_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Short metacarpal human_phenotype_ontology_hp_0001164_human_phenotype_ontology_hp_0005695_human_phenotype_ontology_hp_0005717_human_phenotype_ontology_hp_0005909_human_phenotype_ontology_hp_0006047_human_phenotype_ontology_hp_0006183_human_phenotype_ontology_hp_0006186_human_phenotype_ontology_hp_0010049_medgen_c1837084 Human_Phenotype_Ontology:HP:0001164,Human_Phenotype_Ontology:HP:0005695,Human_Phenotype_Ontology:HP:0005717,Human_Phenotype_Ontology:HP:0005909,Human_Phenotype_Ontology:HP:0006047,Human_Phenotype_Ontology:HP:0006183,Human_Phenotype_Ontology:HP:0006186,Human_Phenotype_Ontology:HP:0010049,MedGen:C1837084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Inability to walk by childhood/adolescence human_phenotype_ontology_hp_0006915_medgen_c1859200 Human_Phenotype_Ontology:HP:0006915,MedGen:C1859200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Hypothyroidism human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ High palate human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Downturned corners of mouth human_phenotype_ontology_hp_0000192_human_phenotype_ontology_hp_0002714_medgen_c1866195 Human_Phenotype_Ontology:HP:0000192,Human_Phenotype_Ontology:HP:0002714,MedGen:C1866195 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Decreased lacrimation human_phenotype_ontology_hp_0000633_medgen_c0235857 Human_Phenotype_Ontology:HP:0000633,MedGen:C0235857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Brachycephaly human_phenotype_ontology_hp_0000248_human_phenotype_ontology_hp_0002258_human_phenotype_ontology_hp_0004479_human_phenotype_ontology_hp_0008512_medgen_c0221356_orphanet_35099 Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MedGen:C0221356,Orphanet:35099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Anteverted nares human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Abnormal nail morphology human_phenotype_ontology_hp_0001597_medgen_c0853087 Human_Phenotype_Ontology:HP:0001597,MedGen:C0853087 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POFUT1 POFUT1-related disorder pofut1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PODXL Autosomal recessive juvenile Parkinson disease 2 mondo_mondo_0010820_medgen_c1868675_omim_600116_orphanet_2828 MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC5 Scoliosis, isolated, susceptibility to, 1 mondo_mondo_0008419_medgen_c2700406_omim_181800 MONDO:MONDO:0008419,MedGen:C2700406,OMIM:181800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1B Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1B Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1A POC1A-related disorder poc1a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POC1A Ateleiotic dwarfism mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPT1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPO Neuronopathy, distal hereditary motor, type 5A mondo_mondo_0015353_medgen_cn031873_omim_600794_orphanet_139536 MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPO Growth delay human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPO Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA8 PNPLA8-related disorder pnpla8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA8 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome mondo_mondo_0100155_medgen_cn322576 MONDO:MONDO:0100155,MedGen:CN322576 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Hypogonadism with anosmia mondo_mondo_0018800_medgen_c0162809_orphanet_478 MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Gait ataxia human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA1 Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA1 Autosomal recessive congenital ichthyosis mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA1 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNLDC1 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNLDC1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNLDC1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia mondo_mondo_0008842_medgen_c1859598_omim_208920_orphanet_1168 MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKD Paroxysmal dystonia human_phenotype_ontology_hp_0002268_human_phenotype_ontology_hp_0002412_mondo_mondo_0016058_medgen_c0393588_orphanet_200037 Human_Phenotype_Ontology:HP:0002268,Human_Phenotype_Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588,Orphanet:200037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKD Paroxysmal dyskinesia human_phenotype_ontology_hp_0007166_mondo_mondo_0015427_medgen_c0752210_orphanet_1431 Human_Phenotype_Ontology:HP:0007166,MONDO:MONDO:0015427,MedGen:C0752210,Orphanet:1431 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKD Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKD Episodic hemiplegia human_phenotype_ontology_hp_0012194_medgen_c1863061 Human_Phenotype_Ontology:HP:0012194,MedGen:C1863061 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMVK condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMVK PMVK-related disorder pmvk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Polyp of colon mondo_mondo_0021400_medgen_c0009376 MONDO:MONDO:0021400,MedGen:C0009376 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Pituitary carcinoma human_phenotype_ontology_hp_0011763_mondo_mondo_0017582_medgen_c0346300_orphanet_300385 Human_Phenotype_Ontology:HP:0011763,MONDO:MONDO:0017582,MedGen:C0346300,Orphanet:300385 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 PMS2-related cancer disorders pms2_related_cancer_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Lymphoma human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Hypertrophic cardiomyopathy 9 mondo_mondo_0013412_medgen_c1861065_omim_613765 MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Dilated cardiomyopathy 1G mondo_mondo_0011400_medgen_c1858763_omim_604145_orphanet_154 MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Colorectal cancer, non-polyposis colorectal_cancer_non_polyposis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Colon cancer human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Burkitt lymphoma human_phenotype_ontology_hp_0030080_mondo_mondo_0007243_medgen_c0006413_omim_113970_orphanet_543 Human_Phenotype_Ontology:HP:0030080,MONDO:MONDO:0007243,MedGen:C0006413,OMIM:113970,Orphanet:543 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Breast-ovarian cancer, familial, susceptibility to, 2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS2 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS1 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS1 Lynch syndrome 4 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMS1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCB condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCB PMPCB-related mitochondrial disorder pmpcb_related_mitochondrial_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCB PMPCB-related ataxia pmpcb_related_ataxia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMPCB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths medgen_c4016717 MedGen:C4016717 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Charcot-Marie-Tooth disease type 2E mondo_mondo_0011894_medgen_c1843225_omim_607684_orphanet_99939 MONDO:MONDO:0011894,MedGen:C1843225,OMIM:607684,Orphanet:99939 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Autosomal recessive Dejerine-Sottas syndrome autosomal_recessive_dejerine_sottas_syndrome MedGen:CN069172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Congenital disorder of glycosylation type I mondo_mondo_0005500_medgen_c4700504_omim_ps212065 MONDO:MONDO:0005500,MedGen:C4700504,OMIM:PS212065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMM1 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies mondo_mondo_0014994_medgen_c4310644_omim_617260 MONDO:MONDO:0014994,MedGen:C4310644,OMIM:617260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMFBP1 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMFBP1 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXNA2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXNA2 atypical cerebral palsy atypical_cerebral_palsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXNA1 PLXNA1-related disorder plxna1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLXNA1 Neurodevelopmental disorder with variable cerebral and eye anomalies neurodevelopmental_disorder_with_variable_cerebral_and_eye_anomalies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS3 X-linked osteoporosis with fractures mondo_mondo_0018315_medgen_c5190610_orphanet_391330 MONDO:MONDO:0018315,MedGen:C5190610,Orphanet:391330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS3 Postmenopausal osteoporosis mondo_mondo_0008159_medgen_c0029458 MONDO:MONDO:0008159,MedGen:C0029458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS3 Congenital diaphragmatic hernia human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS1 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLS1 Autosomal dominant nonsyndromic hearing impairment autosomal_dominant_nonsyndromic_hearing_impairment . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLPBP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Pelizaeus-Merzbacher disease, mild medgen_c4016484 MedGen:C4016484 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD3 PLOD3-related disorder plod3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Ulnar bowing human_phenotype_ontology_hp_0003031_human_phenotype_ontology_hp_0003983_medgen_c1865847 Human_Phenotype_Ontology:HP:0003031,Human_Phenotype_Ontology:HP:0003983,MedGen:C1865847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Short femur human_phenotype_ontology_hp_0003097_human_phenotype_ontology_hp_0009749_mondo_mondo_0016032_medgen_c0345375_orphanet_1987 Human_Phenotype_Ontology:HP:0003097,Human_Phenotype_Ontology:HP:0009749,MONDO:MONDO:0016032,MedGen:C0345375,Orphanet:1987 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Radial bowing human_phenotype_ontology_hp_0002986_human_phenotype_ontology_hp_0004996_medgen_c1859399 Human_Phenotype_Ontology:HP:0002986,Human_Phenotype_Ontology:HP:0004996,MedGen:C1859399 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 PLOD2-related disorder plod2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Femoral bowing human_phenotype_ontology_hp_0002980_human_phenotype_ontology_hp_0004998_medgen_c1859461 Human_Phenotype_Ontology:HP:0002980,Human_Phenotype_Ontology:HP:0004998,MedGen:C1859461 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Cleft soft palate human_phenotype_ontology_hp_0000185_mondo_mondo_0007338_medgen_c0432098_omim_119570_orphanet_99772 Human_Phenotype_Ontology:HP:0000185,MONDO:MONDO:0007338,MedGen:C0432098,OMIM:119570,Orphanet:99772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Camptodactyly human_phenotype_ontology_hp_0012385_medgen_c0685409 Human_Phenotype_Ontology:HP:0012385,MedGen:C0685409 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Bowing of the long bones human_phenotype_ontology_hp_0002976_human_phenotype_ontology_hp_0005087_human_phenotype_ontology_hp_0005908_human_phenotype_ontology_hp_0006404_human_phenotype_ontology_hp_0006451_human_phenotype_ontology_hp_0006452_human_phenotype_ontology_hp_0006487_medgen_c1855340 Human_Phenotype_Ontology:HP:0002976,Human_Phenotype_Ontology:HP:0005087,Human_Phenotype_Ontology:HP:0005908,Human_Phenotype_Ontology:HP:0006404,Human_Phenotype_Ontology:HP:0006451,Human_Phenotype_Ontology:HP:0006452,Human_Phenotype_Ontology:HP:0006487,MedGen:C1855340 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Aplasia/hypoplasia of the femur human_phenotype_ontology_hp_0005613_human_phenotype_ontology_hp_0006396_human_phenotype_ontology_hp_0006425_medgen_c1851310 Human_Phenotype_Ontology:HP:0005613,Human_Phenotype_Ontology:HP:0006396,Human_Phenotype_Ontology:HP:0006425,MedGen:C1851310 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Umbilical hernia human_phenotype_ontology_hp_0001537_medgen_c0019322 Human_Phenotype_Ontology:HP:0001537,MedGen:C0019322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Thoracolumbar scoliosis human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Short chin human_phenotype_ontology_hp_0000331_medgen_c3697248 Human_Phenotype_Ontology:HP:0000331,MedGen:C3697248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Porencephalic cyst human_phenotype_ontology_hp_0002132_medgen_c4082172 Human_Phenotype_Ontology:HP:0002132,MedGen:C4082172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Narrow chest human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Macrocephaly at birth human_phenotype_ontology_hp_0004488_medgen_c1836599 Human_Phenotype_Ontology:HP:0004488,MedGen:C1836599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Hypoplasia of scrotum medgen_c0431659 MedGen:C0431659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 High palate human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Generalized neonatal hypotonia human_phenotype_ontology_hp_0008935_medgen_c1845123 Human_Phenotype_Ontology:HP:0008935,MedGen:C1845123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Dolichocephaly human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Depressed nasal bridge human_phenotype_ontology_hp_0000425_human_phenotype_ontology_hp_0000428_human_phenotype_ontology_hp_0000439_human_phenotype_ontology_hp_0000459_human_phenotype_ontology_hp_0004413_human_phenotype_ontology_hp_0004505_human_phenotype_ontology_hp_0004506_human_phenotype_ontology_hp_0004666_human_phenotype_ontology_hp_0005119_human_phenotype_ontology_hp_0005280_human_phenotype_ontology_hp_0005284_medgen_c1836542 Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Congenital omphalocele human_phenotype_ontology_hp_0001539_mondo_mondo_0019015_medgen_c0795690_orphanet_660 Human_Phenotype_Ontology:HP:0001539,MONDO:MONDO:0019015,MedGen:C0795690,Orphanet:660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Bilateral cryptorchidism human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Sudden cardiac death efo_the_experimental_factor_ontology_efo_0004278_human_phenotype_ontology_hp_0001645_human_phenotype_ontology_hp_0005161_mesh_d016757_medgen_c0085298 EFO:_The_Experimental_Factor_Ontology:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN PLN-related disorder pln_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN PLN-related cardiomyopathy pln_related_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Intrinsic cardiomyopathy mondo_mondo_0000591_medgen_cn305117 MONDO:MONDO:0000591,MedGen:CN305117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Cardiac arrest human_phenotype_ontology_hp_0001695_mondo_mondo_0000745_medgen_c0018790 Human_Phenotype_Ontology:HP:0001695,MONDO:MONDO:0000745,MedGen:C0018790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLN Arrhythmogenic right ventricular dysplasia 9 mondo_mondo_0012180_medgen_c1836906_omim_609040 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLK4 PLK4-related microcephaly and growth failure with or without ocular features plk4_related_microcephaly_and_growth_failure_with_or_without_ocular_features . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLK2 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLIN4 Vacuolar Neuromyopathy mondo_mondo_0011155_medgen_c1866139_omim_601846_orphanet_696063 MONDO:MONDO:0011155,MedGen:C1866139,OMIM:601846,Orphanet:696063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG Otitis media, susceptibility to mondo_mondo_0008162_medgen_c1833692_omim_166760 MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG Hereditary angioneurotic edema mondo_mondo_0019623_medgen_c0019243_omim_ps106100_orphanet_91378 MONDO:MONDO:0019623,MedGen:C0019243,OMIM:PS106100,Orphanet:91378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG Hereditary angioedema with normal C1Inh mondo_mondo_0100567_medgen_c1960459_orphanet_528647 MONDO:MONDO:0100567,MedGen:C1960459,Orphanet:528647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLG Deep venous thrombosis human_phenotype_ontology_hp_0002625_mesh_d020246_medgen_c0149871 Human_Phenotype_Ontology:HP:0002625,MeSH:D020246,MedGen:C0149871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHM1 Autosomal recessive osteopetrosis 6 mondo_mondo_0012679_medgen_c1969093_omim_611497_orphanet_210110 MONDO:MONDO:0012679,MedGen:C1969093,OMIM:611497,Orphanet:210110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 Spinal muscular atrophy, facioscapulohumeral type mondo_mondo_0008452_medgen_c1866783_omim_182970 MONDO:MONDO:0008452,MedGen:C1866783,OMIM:182970 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 PLEKHG5-related disorder plekhg5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 Autosomal recessive PLEKHG5-related disorders autosomal_recessive_plekhg5_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG2 Spondylocostal dysostosis 1, autosomal recessive mondo_mondo_0020692_medgen_cn032975_omim_277300_orphanet_2311 MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHA7 PLEKHA7-related disorder plekha7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHA5 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHA5 Cleft lip with or without cleft palate medgen_c0810364_orphanet_1991 MedGen:C0810364,Orphanet:1991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHA3 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Simplex epidermolysis bullosa Ogna type simplex_epidermolysis_bullosa_ogna_type . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC PLEC-related disorder plec_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Neuromuscular disease caused by qualitative or quantitative defects of plectin mondo_mondo_0016198_medgen_c5680835_orphanet_209196 MONDO:MONDO:0016198,MedGen:C5680835,Orphanet:209196 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Junctional epidermolysis bullosa with pyloric atresia mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Epidermolysis bullosa simplex 1A, generalized severe mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD6 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD3 Progressive peripheral neuropathy human_phenotype_ontology_hp_0007133_human_phenotype_ontology_hp_0007329_medgen_c1859178 Human_Phenotype_Ontology:HP:0007133,Human_Phenotype_Ontology:HP:0007329,MedGen:C1859178 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD3 Progressive gait ataxia human_phenotype_ontology_hp_0002142_human_phenotype_ontology_hp_0007240_medgen_c1843885 Human_Phenotype_Ontology:HP:0002142,Human_Phenotype_Ontology:HP:0007240,MedGen:C1843885 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD3 Charcot-Marie-Tooth disease type 4F mondo_mondo_0013959_medgen_c3540453_omim_614895_orphanet_99952 MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLD3 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCZ1 PLCZ1-related disorder plcz1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCG1 Immune dysregulation, autoimmunity, and autoinflammation mondo_mondo_0957790_medgen_c5848750_omim_620514 MONDO:MONDO:0957790,MedGen:C5848750,OMIM:620514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCE1 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCE1 Finnish congenital nephrotic syndrome mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Uveal melanoma human_phenotype_ontology_hp_0007716_mondo_mondo_0006486_medgen_c0220633_omim_155720_orphanet_39044 Human_Phenotype_Ontology:HP:0007716,MONDO:MONDO:0006486,MedGen:C0220633,OMIM:155720,Orphanet:39044 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Ocular melanocytosis human_phenotype_ontology_hp_0025534_medgen_c0025210 Human_Phenotype_Ontology:HP:0025534,MedGen:C0025210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Auriculocondylar syndrome mondo_mondo_0000107_medgen_c1865295_omim_ps602483_orphanet_137888 MONDO:MONDO:0000107,MedGen:C1865295,OMIM:PS602483,Orphanet:137888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB4 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB3 Spondylometaphyseal dysplasia with corneal dystrophy mondo_mondo_0030074_medgen_c5394555_omim_618961_orphanet_589435 MONDO:MONDO:0030074,MedGen:C5394555,OMIM:618961,Orphanet:589435 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB1 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAG1 Russell-Silver syndrome mondo_mondo_0008394_medgen_c0175693_omim_ps180860_orphanet_813 MONDO:MONDO:0008394,MedGen:C0175693,OMIM:PS180860,Orphanet:813 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAG1 PLAG1-related disorder plag1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAG1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLAA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 PLA2G6-associated neurodegeneration (PLAN) pla2g6_associated_neurodegeneration_plan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Karak syndrome medgen_c2750220 MedGen:C2750220 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Infantile osteopetrosis with neuroaxonal dysplasia mondo_mondo_0010866_medgen_c1838258_omim_600329_orphanet_85179 MONDO:MONDO:0010866,MedGen:C1838258,OMIM:600329,Orphanet:85179 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G5 Late-onset retinal degeneration mondo_mondo_0011579_medgen_c1854065_omim_605670_orphanet_67042 MONDO:MONDO:0011579,MedGen:C1854065,OMIM:605670,Orphanet:67042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G2A Familial colorectal cancer mondo_mondo_0023113_medgen_cn280943 MONDO:MONDO:0023113,MedGen:CN280943 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA1A Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Arrhythmogenic right ventricular dysplasia 1 mondo_mondo_0007152_medgen_c1862511_omim_107970_orphanet_3403 MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKP1 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKIG Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency mondo_mondo_0007064_medgen_c0392607_omim_102700_orphanet_277 MONDO:MONDO:0007064,MedGen:C0392607,OMIM:102700,Orphanet:277 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKIG Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKIG Partial adenosine deaminase deficiency medgen_c1863239 MedGen:C1863239 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Pregnancy loss, recurrent, susceptibility to, 3 mondo_mondo_0013729_medgen_c3280674_omim_614391 MONDO:MONDO:0013729,MedGen:C3280674,OMIM:614391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Polycystic kidney disease, adult type mondo_mondo_0008263_medgen_c3149841_omim_173900 MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Polycystic kidney disease 4, with or without hepatic disease polycystic_kidney_disease_4_with_or_without_hepatic_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Periportal fibrosis human_phenotype_ontology_hp_0001405_medgen_c1849766 Human_Phenotype_Ontology:HP:0001405,MedGen:C1849766 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Oligohydramnios human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Hypoplastic aortic arch human_phenotype_ontology_hp_0012304_medgen_c0265881 Human_Phenotype_Ontology:HP:0012304,MedGen:C0265881 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Cystic renal disease cystic_renal_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Colorectal cancer, protection against medgen_c3149111 MedGen:C3149111 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Classic homocystinuria mondo_mondo_0009352_medgen_c0751202_omim_236200_orphanet_394 MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Autosomal dominant polycystic kidney disease mondo_mondo_0004691_medgen_c0085413_orphanet_730 MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKDCC Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Polycystic liver disease 1 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Polycystic kidney disease, adult type mondo_mondo_0008263_medgen_c3149841_omim_173900 MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Multiple renal cysts human_phenotype_ontology_hp_0005562_medgen_c0431718 Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Multicystic kidney dysplasia human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Hyperechogenic kidneys human_phenotype_ontology_hp_0004719_medgen_c3275899 Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Enlarged kidney human_phenotype_ontology_hp_0000105_medgen_c0542518 Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Elevated systolic blood pressure human_phenotype_ontology_hp_0004421_human_phenotype_ontology_hp_0004956_medgen_c1840374 Human_Phenotype_Ontology:HP:0004421,Human_Phenotype_Ontology:HP:0004956,MedGen:C1840374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Elevated diastolic blood pressure human_phenotype_ontology_hp_0005117_medgen_c1840375 Human_Phenotype_Ontology:HP:0005117,MedGen:C1840375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Biliary tract abnormality human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Autosomal recessive polycystic kidney disease mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Anhydramnios human_phenotype_ontology_hp_0025700_medgen_c0730379 Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1L1 Visceral heterotaxy mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1L1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1L1 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Tuberous sclerosis syndrome mondo_mondo_0001734_medgen_c0041341_omim_ps191100_orphanet_805 MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Tuberous sclerosis 2 mondo_mondo_0013199_medgen_c1860707_omim_613254_orphanet_805 MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Stage 5 chronic kidney disease human_phenotype_ontology_hp_0000101_human_phenotype_ontology_hp_0003774_human_phenotype_ontology_hp_0004720_human_phenotype_ontology_hp_0004725_human_phenotype_ontology_hp_0004733_human_phenotype_ontology_hp_0004738_human_phenotype_ontology_hp_0005570_mondo_mondo_0004375_medgen_c2316810 Human_Phenotype_Ontology:HP:0000101,Human_Phenotype_Ontology:HP:0003774,Human_Phenotype_Ontology:HP:0004720,Human_Phenotype_Ontology:HP:0004725,Human_Phenotype_Ontology:HP:0004733,Human_Phenotype_Ontology:HP:0004738,Human_Phenotype_Ontology:HP:0005570,MONDO:MONDO:0004375,MedGen:C2316810 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Renovascular hypertension human_phenotype_ontology_hp_0008741_human_phenotype_ontology_hp_0100817_mondo_mondo_0006947_medgen_c0020545 Human_Phenotype_Ontology:HP:0008741,Human_Phenotype_Ontology:HP:0100817,MONDO:MONDO:0006947,MedGen:C0020545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Renal insufficiency human_phenotype_ontology_hp_0000083_human_phenotype_ontology_hp_0000084_human_phenotype_ontology_hp_0004723_medgen_c1565489 Human_Phenotype_Ontology:HP:0000083,Human_Phenotype_Ontology:HP:0000084,Human_Phenotype_Ontology:HP:0004723,MedGen:C1565489 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Polycystic kidney disease 2 mondo_mondo_0013131_medgen_c2751306_omim_613095 MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Moderate sensorineural hearing impairment human_phenotype_ontology_hp_0008504_medgen_c4024664 Human_Phenotype_Ontology:HP:0008504,MedGen:C4024664 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Hyperechogenic kidneys human_phenotype_ontology_hp_0004719_medgen_c3275899 Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Enlarged kidney human_phenotype_ontology_hp_0000105_medgen_c0542518 Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Dilatation of the cerebral artery human_phenotype_ontology_hp_0002618_human_phenotype_ontology_hp_0004944_human_phenotype_ontology_hp_0006816_medgen_c4476540 Human_Phenotype_Ontology:HP:0002618,Human_Phenotype_Ontology:HP:0004944,Human_Phenotype_Ontology:HP:0006816,MedGen:C4476540 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Biliary tract abnormality human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Autosomal recessive polycystic kidney disease mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Anhydramnios human_phenotype_ontology_hp_0025700_medgen_c0730379 Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 3-4 toe syndactyly human_phenotype_ontology_hp_0004708_human_phenotype_ontology_hp_0009779_medgen_c1834062 Human_Phenotype_Ontology:HP:0004708,Human_Phenotype_Ontology:HP:0009779,MedGen:C1834062 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PJVK Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PJVK Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIWIL1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX3 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX3 Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities medgen_c3807151 MedGen:C3807151 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX3 ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES medgen_c4310917 MedGen:C4310917 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 Ring dermoid of cornea mondo_mondo_0008387_medgen_c1867155_omim_180550_orphanet_91481 MONDO:MONDO:0008387,MedGen:C1867155,OMIM:180550,Orphanet:91481 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 Rieger anomaly human_phenotype_ontology_hp_0000558_mondo_mondo_0019628_medgen_c0265341_orphanet_91483 Human_Phenotype_Ontology:HP:0000558,MONDO:MONDO:0019628,MedGen:C0265341,Orphanet:91483 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 Axenfeld-Rieger syndrome mondo_mondo_0019187_medgen_c3495488_omim_ps180500_orphanet_782 MONDO:MONDO:0019187,MedGen:C3495488,OMIM:PS180500,Orphanet:782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities mondo_mondo_0007180_medgen_c1862373_omim_109120 MONDO:MONDO:0007180,MedGen:C1862373,OMIM:109120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE anterior_segment_dysgenesis_4_peters_anomaly_subtype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX1 Hurler syndrome mondo_mondo_0011758_medgen_c0086795_omim_607014_orphanet_93473 MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014,Orphanet:93473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITRM1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITRM1 Infantile onset spinocerebellar ataxia mondo_mondo_0010060_medgen_c1849096_omim_271245_orphanet_1186 MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245,Orphanet:1186 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITPNM3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITPNM3 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITPNM3 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PISD PISD-related mitochondrial disease pisd_related_mitochondrial_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIP5K1C PIP5K1C-related neurodevelopmental disorder mondo_mondo_1010145_medgen_cn379478 MONDO:MONDO:1010145,MedGen:CN379478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIP5K1C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIP5K1A Intellectual developmental disorder 60 with seizures mondo_mondo_0032823_medgen_c5231497_omim_618587 MONDO:MONDO:0032823,MedGen:C5231497,OMIM:618587 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIP4K2B Hereditary neutrophilia mondo_mondo_0008092_medgen_c0543669_omim_162830_orphanet_279943 MONDO:MONDO:0008092,MedGen:C0543669,OMIM:162830,Orphanet:279943 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIP4K2B Autosomal recessive severe congenital neutropenia due to CSF3R deficiency mondo_mondo_0014865_medgen_c4310764_omim_617014_orphanet_420702 MONDO:MONDO:0014865,MedGen:C4310764,OMIM:617014,Orphanet:420702 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PINK1 Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 parkinson_disease_autosomal_recessive_early_onset_digenic_pink1_dj1 MedGen:CN043330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PINK1 PINK1-Related Parkinsonism pink1_related_parkinsonism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes mondo_mondo_0100283_medgen_cn300503 MONDO:MONDO:0100283,MedGen:CN300503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome mondo_mondo_0019375_medgen_c1863924_omim_ps603387_orphanet_83473 MONDO:MONDO:0019375,MedGen:C1863924,OMIM:PS603387,Orphanet:83473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 Megalencephaly-capillary malformation-polymicrogyria syndrome mondo_mondo_0011240_medgen_c1865285_omim_602501_orphanet_60040 MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Immunodeficiency 14 mondo_mondo_0014222_medgen_c3714976_omim_615513_orphanet_397596_orphanet_693661 MONDO:MONDO:0014222,MedGen:C3714976,OMIM:615513,Orphanet:397596,Orphanet:693661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CG condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD PIK3CD-related disorder pik3cd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD Abnormality of the immune system human_phenotype_ontology_hp_0002715_human_phenotype_ontology_hp_0003257_human_phenotype_ontology_hp_0003346_human_phenotype_ontology_hp_0010986_medgen_c4021753 Human_Phenotype_Ontology:HP:0002715,Human_Phenotype_Ontology:HP:0003257,Human_Phenotype_Ontology:HP:0003346,Human_Phenotype_Ontology:HP:0010986,MedGen:C4021753 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CB NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Stroke disorder human_phenotype_ontology_hp_0001297_human_phenotype_ontology_hp_0002452_mondo_mondo_0005098_mesh_d020521_medgen_c0038454 Human_Phenotype_Ontology:HP:0001297,Human_Phenotype_Ontology:HP:0002452,MONDO:MONDO:0005098,MeSH:D020521,MedGen:C0038454 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Squamous cell lung carcinoma human_phenotype_ontology_hp_0030359_mondo_mondo_0005097_medgen_c0149782 Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Sarcoma human_phenotype_ontology_hp_0100242_mondo_mondo_0005089_medgen_c1261473 Human_Phenotype_Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Rosette-forming glioneuronal tumor human_phenotype_ontology_hp_0025171_mondo_mondo_0016736_medgen_c4331262_orphanet_251975 Human_Phenotype_Ontology:HP:0025171,MONDO:MONDO:0016736,MedGen:C4331262,Orphanet:251975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA PIK3CA-related overgrowth pik3ca_related_overgrowth . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA PIK3CA-Related Overgrowth Spectrum Disorders pik3ca_related_overgrowth_spectrum_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA PIK3C1-related disorder pik3c1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Noonan syndrome 8 mondo_mondo_0014143_medgen_c3809233_omim_615355_orphanet_648 MONDO:MONDO:0014143,MedGen:C3809233,OMIM:615355,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Neoplasm of stomach human_phenotype_ontology_hp_0006753_mondo_mondo_0021085_medgen_c0038356 Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Megalencephaly, autosomal dominant mondo_mondo_0007961_medgen_c3805727_omim_155350 MONDO:MONDO:0007961,MedGen:C3805727,OMIM:155350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Macrodactyly of toe human_phenotype_ontology_hp_0100747_mondo_mondo_0017475_medgen_c0158768_orphanet_295047 Human_Phenotype_Ontology:HP:0100747,MONDO:MONDO:0017475,MedGen:C0158768,Orphanet:295047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Lymphatic malformation mondo_mondo_0019313_medgen_c0398368_omim_ps153100 MONDO:MONDO:0019313,MedGen:C0398368,OMIM:PS153100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Lung carcinoma mondo_mondo_0005138_medgen_c0684249 MONDO:MONDO:0005138,MedGen:C0684249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Klippel-Trenaunay-like-Syndrome klippel_trenaunay_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Keratoacanthoma human_phenotype_ontology_hp_0031525_mondo_mondo_0002527_mesh_d007636_medgen_c0022572 Human_Phenotype_Ontology:HP:0031525,MONDO:MONDO:0002527,MeSH:D007636,MedGen:C0022572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Intestinal duplication human_phenotype_ontology_hp_0100668_medgen_c0266166 Human_Phenotype_Ontology:HP:0100668,MedGen:C0266166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Hypospadias human_phenotype_ontology_hp_0000047_mondo_mondo_0005345_medgen_c0848558_omim_ps300633 Human_Phenotype_Ontology:HP:0000047,MONDO:MONDO:0005345,MedGen:C0848558,OMIM:PS300633 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Hemihypertrophy human_phenotype_ontology_hp_0001528_human_phenotype_ontology_hp_0006416_medgen_c0332890 Human_Phenotype_Ontology:HP:0001528,Human_Phenotype_Ontology:HP:0006416,MedGen:C0332890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Glycogen storage disease, type II mondo_mondo_0009290_medgen_c0017921_omim_232300_orphanet_365 MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Gallbladder cancer mondo_mondo_0005411_medgen_c0153452 MONDO:MONDO:0005411,MedGen:C0153452 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Eccrine angiomatous hamartoma mondo_mondo_0975755_medgen_c0406801_orphanet_673568 MONDO:MONDO:0975755,MedGen:C0406801,Orphanet:673568 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Diaphragmatic eventration human_phenotype_ontology_hp_0009110_human_phenotype_ontology_hp_0009114_mondo_mondo_0006726_mesh_d003965_medgen_c0011981 Human_Phenotype_Ontology:HP:0009110,Human_Phenotype_Ontology:HP:0009114,MONDO:MONDO:0006726,MeSH:D003965,MedGen:C0011981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Cerebral cavernous malformation 4 mondo_mondo_0859192_medgen_c5561991_omim_619538 MONDO:MONDO:0859192,MedGen:C5561991,OMIM:619538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Cavernous lymphangioma mondo_mondo_0019328_medgen_c0205828_orphanet_79489 MONDO:MONDO:0019328,MedGen:C0205828,Orphanet:79489 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Capillary malformation-arteriovenous malformation 1 mondo_mondo_0020783_medgen_c4747394_omim_608354_orphanet_137667 MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Arteriovenous malformation human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Abnormality of the hairline human_phenotype_ontology_hp_0009553_medgen_c4024297 Human_Phenotype_Ontology:HP:0009553,MedGen:C4024297 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3C2G PLCZ1-related disorder plcz1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3C2G Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3C2A Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIH1D2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIH1D2 Pyruvate dehydrogenase E2 deficiency mondo_mondo_0009502_medgen_c1855565_omim_245348_orphanet_765_orphanet_79244 MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348,Orphanet:765,Orphanet:79244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGY Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGW condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGV PIGV-related disorder pigv_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGV Hyperphosphatasia-intellectual disability syndrome mondo_mondo_0016596_medgen_c1855923_omim_ps239300_orphanet_247262 MONDO:MONDO:0016596,MedGen:C1855923,OMIM:PS239300,Orphanet:247262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGT Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGT Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGS condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ Intractable seizure medgen_c2674422 MedGen:C2674422 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGP PIGP-related disorder pigp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGO Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGO Hyperphosphatasia with intellectual disability syndrome 1 mondo_mondo_0009398_medgen_c4551502_omim_239300_orphanet_247262 MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGM Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency mondo_mondo_0012465_medgen_c5201145_omim_610293_orphanet_83639 MONDO:MONDO:0012465,MedGen:C5201145,OMIM:610293,Orphanet:83639 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Wide intermamillary distance human_phenotype_ontology_hp_0000779_human_phenotype_ontology_hp_0001554_human_phenotype_ontology_hp_0006610_medgen_c1827524 Human_Phenotype_Ontology:HP:0000779,Human_Phenotype_Ontology:HP:0001554,Human_Phenotype_Ontology:HP:0006610,MedGen:C1827524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Premature birth human_phenotype_ontology_hp_0001622_medgen_c0151526 Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Postaxial hand polydactyly human_phenotype_ontology_hp_0001162_human_phenotype_ontology_hp_0004698_human_phenotype_ontology_hp_0005763_human_phenotype_ontology_hp_0009984_mondo_mondo_0017426_medgen_c0431904 Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Hypoplasia of scrotum medgen_c0431659 MedGen:C0431659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Hyperphosphatasia with intellectual disability syndrome 1 mondo_mondo_0009398_medgen_c4551502_omim_239300_orphanet_247262 MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Camptodactyly of finger human_phenotype_ontology_hp_0005651_human_phenotype_ontology_hp_0005662_human_phenotype_ontology_hp_0005713_human_phenotype_ontology_hp_0005801_human_phenotype_ontology_hp_0005821_human_phenotype_ontology_hp_0006195_human_phenotype_ontology_hp_0006218_human_phenotype_ontology_hp_0006240_human_phenotype_ontology_hp_0009698_human_phenotype_ontology_hp_0100490_medgen_c0409348 Human_Phenotype_Ontology:HP:0005651,Human_Phenotype_Ontology:HP:0005662,Human_Phenotype_Ontology:HP:0005713,Human_Phenotype_Ontology:HP:0005801,Human_Phenotype_Ontology:HP:0005821,Human_Phenotype_Ontology:HP:0006195,Human_Phenotype_Ontology:HP:0006218,Human_Phenotype_Ontology:HP:0006240,Human_Phenotype_Ontology:HP:0009698,Human_Phenotype_Ontology:HP:0100490,MedGen:C0409348 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGL Bilateral cleft lip and palate human_phenotype_ontology_hp_0002744_medgen_c1398522 Human_Phenotype_Ontology:HP:0002744,MedGen:C1398522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGG Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGG PIGG-related disorder pigg_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGG BLOOD GROUP, EMM SYSTEM medgen_c5676953_omim_619812 MedGen:C5676953,OMIM:619812 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGF Rothmund-Thomson syndrome type 3 mondo_mondo_0014347_medgen_c4014339_omim_615789 MONDO:MONDO:0014347,MedGen:C4014339,OMIM:615789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGC Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGA PIGA-related disorder piga_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGA Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Heterotaxy, visceral, 4, autosomal mondo_mondo_0013403_medgen_c3151057_omim_613751_orphanet_450 MONDO:MONDO:0013403,MedGen:C3151057,OMIM:613751,Orphanet:450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 FAM38B-related disorder fam38b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Exocrine pancreatic insufficiency human_phenotype_ontology_hp_0001738_human_phenotype_ontology_hp_0002581_human_phenotype_ontology_hp_0004508_human_phenotype_ontology_hp_0004509_mondo_mondo_0001684_medgen_c0267963 Human_Phenotype_Ontology:HP:0001738,Human_Phenotype_Ontology:HP:0002581,Human_Phenotype_Ontology:HP:0004508,Human_Phenotype_Ontology:HP:0004509,MONDO:MONDO:0001684,MedGen:C0267963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Distal arthrogryposis human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Congenital ichthyosiform erythroderma human_phenotype_ontology_hp_0007431_human_phenotype_ontology_hp_0007478_human_phenotype_ontology_hp_0007484_medgen_c0079583 Human_Phenotype_Ontology:HP:0007431,Human_Phenotype_Ontology:HP:0007478,Human_Phenotype_Ontology:HP:0007484,MedGen:C0079583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 ER BLOOD GROUP SYSTEM, ER(a-b-) er_blood_group_system_er_a_b . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 Diffuse lymphatic malformation mondo_mondo_0015408_medgen_c3839921_orphanet_141209 MONDO:MONDO:0015408,MedGen:C3839921,Orphanet:141209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIDD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PID1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIBF1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIBF1 Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIAS1 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KA Phenylketonuria mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KA Hemorrhage mesh_d006470_medgen_c0019080 MeSH:D006470,MedGen:C0019080 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHYH Refsum syndrome refsum_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHYH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B Congenital central hypoventilation syndrome, with or without Hirschsprung disease congenital_central_hypoventilation_syndrome_with_or_without_hirschsprung_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B Aganglionic megacolon human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKG2 PHKG2-related disorder phkg2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKB Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKB Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 X-linked PHKA2-related disorders x_linked_phka2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 Increased hepatic glycogen content human_phenotype_ontology_hp_0006568_medgen_c1856285 Human_Phenotype_Ontology:HP:0006568,MedGen:C1856285 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 Aland island eye disease mondo_mondo_0010371_medgen_c0268505_omim_300600_orphanet_178333 MONDO:MONDO:0010371,MedGen:C0268505,OMIM:300600,Orphanet:178333 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA1 PHKA1-related disorder phka1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA1 Ornithine carbamoyltransferase deficiency mondo_mondo_0010703_medgen_c0268542_omim_311250_orphanet_664 MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA1 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP Schizophrenia human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHGDH Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHGDH PHGDH-related disorder phgdh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHGDH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHGDH Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF8 PHF8-related disorder phf8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF8 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF7 Kury-Isidor syndrome mondo_mondo_0859230_medgen_c5676925_omim_619762 MONDO:MONDO:0859230,MedGen:C5676925,OMIM:619762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF6 Hirsutism human_phenotype_ontology_hp_0001007_medgen_c0019572 Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF6 Hereditary spastic paraplegia 4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF6 Early onset severe obesity medgen_c4013980 MedGen:C4013980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF21A PHF21A-related disorder phf21a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF21A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX Vitamin D-dependent rickets, type 2 mondo_mondo_0019642_mesh_d053098_medgen_c3536983_orphanet_93160 MONDO:MONDO:0019642,MeSH:D053098,MedGen:C3536983,Orphanet:93160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX Lower limb pain human_phenotype_ontology_hp_0012514_medgen_c0023222 Human_Phenotype_Ontology:HP:0012514,MedGen:C0023222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX Hypophosphatemia human_phenotype_ontology_hp_0002148_mondo_mondo_0000313_medgen_c0085682 Human_Phenotype_Ontology:HP:0002148,MONDO:MONDO:0000313,MedGen:C0085682 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX Bowing of the legs human_phenotype_ontology_hp_0002979_human_phenotype_ontology_hp_0006428_medgen_c5574706 Human_Phenotype_Ontology:HP:0002979,Human_Phenotype_Ontology:HP:0006428,MedGen:C5574706 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX Autosomal dominant hypophosphatemic rickets mondo_mondo_0008660_medgen_c0342642_omim_193100_orphanet_89937 MONDO:MONDO:0008660,MedGen:C0342642,OMIM:193100,Orphanet:89937 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHC1 Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHC1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM2L1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM1 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGK1 Male infertility due to obstructive azoospermia medgen_c5680348_orphanet_98343 MedGen:C5680348,Orphanet:98343 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGGHG condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGGHG Postmenopausal osteoporosis mondo_mondo_0008159_medgen_c0029458 MONDO:MONDO:0008159,MedGen:C0029458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGGHG Osteogenesis imperfecta type 5 mondo_mondo_0012591_medgen_c2931093_omim_610967_orphanet_216828 MONDO:MONDO:0012591,MedGen:C2931093,OMIM:610967,Orphanet:216828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGGHG Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGGHG IFITM5-related disorder ifitm5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP3 PGAP3-related disorder pgap3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP3 Hyperphosphatasia-intellectual disability syndrome mondo_mondo_0016596_medgen_c1855923_omim_ps239300_orphanet_247262 MONDO:MONDO:0016596,MedGen:C1855923,OMIM:PS239300,Orphanet:247262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP2 Genetic developmental and epileptic encephalopathy mondo_mondo_0100062_medgen_cn379639_omim_ps308350 MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP2 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 mondo_mondo_0013188_medgen_c2750509_omim_613227_orphanet_1766 MONDO:MONDO:0013188,MedGen:C2750509,OMIM:613227,Orphanet:1766 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAM2 Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAM2 PGAM2-related disorder pgam2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFN1 PFN1-related disorder pfn1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFN1 Neurodegeneration human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFN1 Lower limb muscle weakness human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFKM Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFKM Peroxisomal biogenesis disorder 3b medgen_c3551381 MedGen:C3551381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFKM Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFAS condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata intermediate_form_of_pex7_related_rhizomelic_chondrodysplasia_punctata . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Peroxisome biogenesis disorder 2B mondo_mondo_0008736_medgen_c3550234_omim_202370_orphanet_44 MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Peroxisome biogenesis disorder 1A (Zellweger) mondo_mondo_0008953_medgen_c4721541_omim_214100 MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Autosomal recessive PEX6-related disorders autosomal_recessive_pex6_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Zellweger spectrum disorders mondo_mondo_0019609_medgen_c0043459_orphanet_912 MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Rhizomelic chondrodysplasia punctata mondo_mondo_0015776_medgen_c0282529_omim_ps215100_orphanet_177 MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100,Orphanet:177 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Peroxisome biogenesis disorder due to PEX5 defect mondo_mondo_0100262_medgen_cn305478 MONDO:MONDO:0100262,MedGen:CN305478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Peroxisome biogenesis disorder 4A (Zellweger) mondo_mondo_0013930_medgen_c3553936_omim_614862_orphanet_912 MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX3 Peroxisome biogenesis disorder 1A (Zellweger) mondo_mondo_0008953_medgen_c4721541_omim_214100 MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX3 PEX3-related disorder pex3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX2 PEX2-related disorder pex2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX19 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX19 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX14 Peroxisome biogenesis disorder 4A (Zellweger) mondo_mondo_0013930_medgen_c3553936_omim_614862_orphanet_912 MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX14 Peroxisome biogenesis disorder 13A (Zellweger) mondo_mondo_0013952_medgen_c3554004_omim_614887_orphanet_912 MONDO:MONDO:0013952,MedGen:C3554004,OMIM:614887,Orphanet:912 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX13 Peroxisome biogenesis disorder 4A (Zellweger) mondo_mondo_0013930_medgen_c3553936_omim_614862_orphanet_912 MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX11B Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Peroxisomal disorder mondo_mondo_0019053_medgen_c0282528_orphanet_68373 MONDO:MONDO:0019053,MedGen:C0282528,Orphanet:68373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Autosomal recessive PEX1-related disorders autosomal_recessive_pex1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PET117 Mitochondrial complex IV deficiency, nuclear type 19 mondo_mondo_0033654_medgen_c5436723_omim_619063 MONDO:MONDO:0033654,MedGen:C5436723,OMIM:619063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PET100 PET100-related disorder pet100_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PET100 Congenital lactic acidosis human_phenotype_ontology_hp_0004902_medgen_c4025276 Human_Phenotype_Ontology:HP:0004902,MedGen:C4025276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PERP condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PERM1 Congenital myasthenic syndrome 8 mondo_mondo_0014052_medgen_c3808739_omim_615120_orphanet_590 MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PER3 Methylcobalamin deficiency type cblE mondo_mondo_0009354_medgen_c1856057_omim_236270_orphanet_2169_orphanet_622 MONDO:MONDO:0009354,MedGen:C1856057,OMIM:236270,Orphanet:2169,Orphanet:622 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEPD Megaconial type congenital muscular dystrophy mondo_mondo_0011246_medgen_c1865233_omim_602541_orphanet_280671 MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEPD Anorectal anomaly human_phenotype_ontology_hp_0012732_mondo_mondo_0007136_medgen_c3495676_omim_107100_orphanet_557 Human_Phenotype_Ontology:HP:0012732,MONDO:MONDO:0007136,MedGen:C3495676,OMIM:107100,Orphanet:557 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZRN3 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD9 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic medgen_c3148929 MedGen:C3148929 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDZD7 Autosomal recessive PDZD7-related disorders autosomal_recessive_pdzd7_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDXK condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDXK PDXK-related disorder pdxk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 Permanent neonatal diabetes mellitus mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus familial_monogenic_diabetes_maturity_onset_diabetes_of_the_young_4_neonatal_diabetes_mellitus . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDX1 Diabetes mellitus type 2, susceptibility to medgen_c3837967 MedGen:C3837967 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDK3 Charcot-Marie-Tooth disease X-linked dominant 6 mondo_mondo_0010479_medgen_c3806702_omim_300905_orphanet_352675 MONDO:MONDO:0010479,MedGen:C3806702,OMIM:300905,Orphanet:352675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDIA6 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHX Pyruvate dehydrogenase E1-alpha deficiency mondo_mondo_0010717_medgen_c1839413_omim_312170_orphanet_79243 MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHX Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA2 Spermatogenic failure 70 mondo_mondo_0030733_medgen_c5676962_omim_619828 MONDO:MONDO:0030733,MedGen:C5676962,OMIM:619828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA2 Oligosynaptic infertility mondo_mondo_0009776_medgen_c0403810_omim_258150 MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA2 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA1 SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA1 Abnormality of the mitochondrion human_phenotype_ontology_hp_0012103_medgen_c4023042 Human_Phenotype_Ontology:HP:0012103,MedGen:C4023042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRL Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFRB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFB PDGFB-related disorder pdgfb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDGFB Meningioma human_phenotype_ontology_hp_0002858_human_phenotype_ontology_hp_0006754_mondo_mondo_0016642_medgen_c0025286_orphanet_2495 Human_Phenotype_Ontology:HP:0002858,Human_Phenotype_Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:2495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE8B Pigmented nodular adrenocortical disease, primary, 3 mondo_mondo_0013616_medgen_c3280094_omim_614190_orphanet_189439 MONDO:MONDO:0013616,MedGen:C3280094,OMIM:614190,Orphanet:189439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE8B PDE8B-Related Disorders pde8b_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE8B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6G Retinitis pigmentosa 57 mondo_mondo_0013315_medgen_c3150821_omim_613582_orphanet_791 MONDO:MONDO:0013315,MedGen:C3150821,OMIM:613582,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6G Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6G Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Tyrosinase-positive oculocutaneous albinism mondo_mondo_0008746_medgen_c0268495_omim_203200_orphanet_79432 MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Progressive cone dystrophy (without rod involvement) medgen_c0271092 MedGen:C0271092 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Congenital Stationary Night Blindness, Dominant congenital_stationary_night_blindness_dominant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6A PDE6A-related disorder pde6a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6A Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6A Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE4D Metaphyseal acroscyphodysplasia mondo_mondo_0009592_medgen_c1855243_omim_250215_orphanet_1240 MONDO:MONDO:0009592,MedGen:C1855243,OMIM:250215,Orphanet:1240 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE3B Vitamin D-dependent rickets, type 1 mondo_mondo_0009924_medgen_c0268689_orphanet_289157 MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE3B Hypophosphataemia or rickets hypophosphataemia_or_rickets . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE3A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A Paroxysmal dystonia human_phenotype_ontology_hp_0002268_human_phenotype_ontology_hp_0002412_mondo_mondo_0016058_medgen_c0393588_orphanet_200037 Human_Phenotype_Ontology:HP:0002268,Human_Phenotype_Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588,Orphanet:200037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A Interictal EEG abnormality human_phenotype_ontology_hp_0025373_medgen_c4476738 Human_Phenotype_Ontology:HP:0025373,MedGen:C4476738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE2A Chorea human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE1C Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE10A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE10A Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCL2 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD6IP Microcephaly 29, primary, autosomal recessive mondo_mondo_0031060_medgen_c5774220_omim_620047 MONDO:MONDO:0031060,MedGen:C5774220,OMIM:620047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Hereditary cavernous hemangioma of brain mondo_mondo_0031037_medgen_c2931263_omim_ps116860_orphanet_221061 MONDO:MONDO:0031037,MedGen:C2931263,OMIM:PS116860,Orphanet:221061 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Hemiparesis human_phenotype_ontology_hp_0001269_medgen_c0018989 Human_Phenotype_Ontology:HP:0001269,MedGen:C0018989 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Cerebral cavernous malformation 1 mondo_mondo_0020724_medgen_c1366911 MONDO:MONDO:0020724,MedGen:C1366911 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Cavernous hemangioma human_phenotype_ontology_hp_0001048_mondo_mondo_0003155_medgen_c0018920 Human_Phenotype_Ontology:HP:0001048,MONDO:MONDO:0003155,MedGen:C0018920 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCYT1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK9 PCSK9-related disorder pcsk9_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK1 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK1 Early onset severe obesity medgen_c4013980 MedGen:C4013980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCNX3 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCNA Ataxia-telangiectasia-like disorder 2 mondo_mondo_0014399_medgen_c4014676_omim_615919_orphanet_438134 MONDO:MONDO:0014399,MedGen:C4014676,OMIM:615919,Orphanet:438134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCLO PCLO-related disorder pclo_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCK1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCGF2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCGF2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCGF2 Abnormality of the outer ear human_phenotype_ontology_hp_0000356_human_phenotype_ontology_hp_0001752_medgen_c1846460 Human_Phenotype_Ontology:HP:0000356,Human_Phenotype_Ontology:HP:0001752,MedGen:C1846460 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGC4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGC3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGB2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGA8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDHGA12 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 developmental delay with seizures developmental_delay_with_seizures . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Temporal cortical atrophy human_phenotype_ontology_hp_0007112_medgen_c4024936 Human_Phenotype_Ontology:HP:0007112,MedGen:C4024936 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Refractory epilepsy with Lennox Gastaut syndrome refractory_epilepsy_with_lennox_gastaut_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Prominent fingertip pads human_phenotype_ontology_hp_0001212_human_phenotype_ontology_hp_0001235_medgen_c1835807 Human_Phenotype_Ontology:HP:0001212,Human_Phenotype_Ontology:HP:0001235,MedGen:C1835807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 PCDH19-related epilespy pcdh19_related_epilespy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 PCDH19-related epilepsy syndrome pcdh19_related_epilepsy_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 PCDH19-related epilepsy pcdh19_related_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Long palpebral fissure human_phenotype_ontology_hp_0000637_human_phenotype_ontology_hp_0007904_medgen_c1849340 Human_Phenotype_Ontology:HP:0000637,Human_Phenotype_Ontology:HP:0007904,MedGen:C1849340 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Hand tremor human_phenotype_ontology_hp_0002378_medgen_c0239842 Human_Phenotype_Ontology:HP:0002378,MedGen:C0239842 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Generalized-onset seizure human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Generalized non-motor (absence) seizure human_phenotype_ontology_hp_0002121_human_phenotype_ontology_hp_0007143_human_phenotype_ontology_hp_0011148_medgen_c4316903 Human_Phenotype_Ontology:HP:0002121,Human_Phenotype_Ontology:HP:0007143,Human_Phenotype_Ontology:HP:0011148,MedGen:C4316903 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Frontal cortical atrophy human_phenotype_ontology_hp_0006913_medgen_c4024965 Human_Phenotype_Ontology:HP:0006913,MedGen:C4024965 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Focal-onset seizure human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Complex febrile seizure human_phenotype_ontology_hp_0011172_medgen_c0751057 Human_Phenotype_Ontology:HP:0011172,MedGen:C0751057 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Usher syndrome type 1G mondo_mondo_0011748_medgen_c1847089_omim_606943_orphanet_231169_orphanet_886 MONDO:MONDO:0011748,MedGen:C1847089,OMIM:606943,Orphanet:231169,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 USHER SYNDROME, TYPE ID/F, DIGENIC medgen_c3276419 MedGen:C3276419 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Progressive cone dystrophy (without rod involvement) medgen_c0271092 MedGen:C0271092 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Childhood onset hearing loss childhood_onset_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH12 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH12 Coats disease mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH12 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH12 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH1 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCCB Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCCA Pontocerebellar hypoplasia type 2D mondo_mondo_0013438_medgen_c3151140_omim_613811_orphanet_247198_orphanet_2524 MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:247198,Orphanet:2524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCBP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Retinitis pigmentosa with macular involvement retinitis_pigmentosa_with_macular_involvement . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE PCARE-related retinopathy mondo_mondo_0800404_medgen_cn322610 MONDO:MONDO:0800404,MedGen:CN322610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PC Thrombophilia due to protein C deficiency, autosomal recessive mondo_mondo_0012860_medgen_c2676759_omim_612304_orphanet_745 MONDO:MONDO:0012860,MedGen:C2676759,OMIM:612304,Orphanet:745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PC Thrombophilia due to protein C deficiency, autosomal dominant mondo_mondo_0008316_medgen_c2674321_omim_176860_orphanet_745 MONDO:MONDO:0008316,MedGen:C2674321,OMIM:176860,Orphanet:745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PC Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PC Congenital lactic acidosis human_phenotype_ontology_hp_0004902_medgen_c4025276 Human_Phenotype_Ontology:HP:0004902,MedGen:C4025276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBX1 PBX1-related intellectual disability and pleiotropic developmental defects pbx1_related_intellectual_disability_and_pleiotropic_developmental_defects . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBX1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBRM1 Clear cell carcinoma of kidney human_phenotype_ontology_hp_0006770_mondo_mondo_0005005_medgen_c0279702_orphanet_319276 Human_Phenotype_Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702,Orphanet:319276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX7 Alveolar rhabdomyosarcoma human_phenotype_ontology_hp_0006779_mondo_mondo_0009994_medgen_c0206655_omim_268220_orphanet_780_orphanet_99756 Human_Phenotype_Ontology:HP:0006779,MONDO:MONDO:0009994,MedGen:C0206655,OMIM:268220,Orphanet:780,Orphanet:99756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 PAX6-related ocular dysgenesis mondo_mondo_0800183_medgen_cn322461 MONDO:MONDO:0800183,MedGen:CN322461 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Optic nerve aplasia, bilateral medgen_c1833798 MedGen:C1833798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Isolated anophthalmia-microphthalmia syndrome mondo_mondo_0016764_medgen_c5679828_orphanet_2542 MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Foveal hypoplasia 1 with or without anterior segment anomalies medgen_c4017657 MedGen:C4017657 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Foveal hypoplasia 1 with cataract medgen_c4017067 MedGen:C4017067 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Cataracts, congenital, with late-onset corneal dystrophy medgen_c3805349 MedGen:C3805349 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Aniridia, atypical medgen_c4017066 MedGen:C4017066 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Albinism or congenital nystagmus albinism_or_congenital_nystagmus . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE anterior_segment_dysgenesis_5_peters_anomaly_subtype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES medgen_c4310884 MedGen:C4310884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Ocular albinism with congenital sensorineural hearing loss ocular_albinism_with_congenital_sensorineural_hearing_loss MedGen:CN028925 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Renal hypoplasia human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Papillorenal syndrome with macular abnormalities medgen_c4016304 MedGen:C4016304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Glomerular sclerosis human_phenotype_ontology_hp_0000096_human_phenotype_ontology_hp_0030761_mondo_mondo_0000490_medgen_c0178664 Human_Phenotype_Ontology:HP:0000096,Human_Phenotype_Ontology:HP:0030761,MONDO:MONDO:0000490,MedGen:C0178664 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX1 PAX1-related disorder pax1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX1 Craniofacial microsomia mondo_mondo_0015397_medgen_c0265240_omim_ps164210_orphanet_141132 MONDO:MONDO:0015397,MedGen:C0265240,OMIM:PS164210,Orphanet:141132 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PATL2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PATL2 Oocyte maturation defect 2 mondo_mondo_0021573_medgen_c4225210_omim_616780 MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARP10 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARN PARN-related disorder parn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARN Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARK7 Young-onset Parkinson disease mondo_mondo_0017279_medgen_c4275179_orphanet_2828 MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARK7 Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 parkinson_disease_autosomal_recessive_early_onset_digenic_pink1_dj1 MedGen:CN043330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARK7 Amyotrophic lateral sclerosis-parkinsonism-dementia complex mondo_mondo_0007104_medgen_c0543859_omim_105500_orphanet_90020 MONDO:MONDO:0007104,MedGen:C0543859,OMIM:105500,Orphanet:90020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARD3B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAPSS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAPSS2 Brachyolmia mondo_mondo_0015262_medgen_c0432228_orphanet_1293 MONDO:MONDO:0015262,MedGen:C0432228,Orphanet:1293 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAPSS2 Autosomal recessive brachyolmia mondo_mondo_0018662_medgen_c4760908_orphanet_448242 MONDO:MONDO:0018662,MedGen:C4760908,Orphanet:448242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK4 Cataract 49 mondo_mondo_0030465_medgen_c5562010_omim_619593 MONDO:MONDO:0030465,MedGen:C5562010,OMIM:619593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency mondo_mondo_0013364_medgen_c3150941_omim_613684_orphanet_353284_orphanet_783 MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALS1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALS1 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALS1 Arachnoid cyst human_phenotype_ontology_hp_0100702_mondo_mondo_0008813_medgen_c0078981_orphanet_2356 Human_Phenotype_Ontology:HP:0100702,MONDO:MONDO:0008813,MedGen:C0078981,Orphanet:2356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALS1 Anxiety human_phenotype_ontology_hp_0000739_mondo_mondo_0011918_medgen_c0003467_omim_607834 Human_Phenotype_Ontology:HP:0000739,MONDO:MONDO:0011918,MedGen:C0003467,OMIM:607834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALS1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Primary ciliary dyskinesia 20 mondo_mondo_0014030_medgen_c3540844_omim_615067_orphanet_244 MONDO:MONDO:0014030,MedGen:C3540844,OMIM:615067,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Precursor B-cell acute lymphoblastic leukemia human_phenotype_ontology_hp_0004812_mondo_mondo_0020511_medgen_c0349636_orphanet_99860 Human_Phenotype_Ontology:HP:0004812,MONDO:MONDO:0020511,MedGen:C0349636,Orphanet:99860 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Ovarian carcinoma human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Neuroendocrine tumor of pancreas mondo_mondo_0019954_medgen_c1337011_orphanet_97253 MONDO:MONDO:0019954,MedGen:C1337011,Orphanet:97253 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Neoplasm of uterus human_phenotype_ontology_hp_0010784_mondo_mondo_0021353_medgen_c0042138 Human_Phenotype_Ontology:HP:0010784,MONDO:MONDO:0021353,MedGen:C0042138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 NICE approved PARP inhibitor treatment nice_approved_parp_inhibitor_treatment . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Hereditary cancer medgen_c1333600 MedGen:C1333600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Generalized hypopigmentation human_phenotype_ontology_hp_0000984_human_phenotype_ontology_hp_0007419_human_phenotype_ontology_hp_0007513_medgen_c1849923 Human_Phenotype_Ontology:HP:0000984,Human_Phenotype_Ontology:HP:0007419,Human_Phenotype_Ontology:HP:0007513,MedGen:C1849923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Family history of cancer human_phenotype_ontology_hp_0032317_medgen_c0260515 Human_Phenotype_Ontology:HP:0032317,MedGen:C0260515 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Colonic neoplasm human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PALB2 Basal cell carcinoma mondo_mondo_0020804_mesh_d002280_medgen_c0007117 MONDO:MONDO:0020804,MeSH:D002280,MedGen:C0007117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK6 Mosaic variegated aneuploidy syndrome 1 mondo_mondo_0009759_medgen_c1850343_omim_257300_orphanet_1052 MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK3 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK3 History of neurodevelopmental disorder medgen_c2711754 MedGen:C2711754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK2 Knobloch syndrome mondo_mondo_0800166_medgen_c1849409_omim_ps267750_orphanet_1571 MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK1 PAK1-related neurodevelopmental disorders pak1_related_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Propionic acidemia human_phenotype_ontology_hp_0003571_mondo_mondo_0011628_medgen_c0268579_omim_606054_orphanet_35 Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Pituitary hormone deficiency, combined, 2 mondo_mondo_0009878_medgen_c0878683_omim_262600 MONDO:MONDO:0009878,MedGen:C0878683,OMIM:262600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAGR1 Infantile convulsions and choreoathetosis mondo_mondo_0011178_medgen_c1865926_omim_602066_orphanet_31709 MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAGE2B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B3 Intellectual disability, autosomal dominant 45 mondo_mondo_0030910_medgen_c4539848_omim_617600 MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia pafah1b1_associated_lissencephaly_subcortical_band_heterotopia MedGen:CN229785 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 Abnormal cortical gyration human_phenotype_ontology_hp_0002536_human_phenotype_ontology_hp_0006900_medgen_c1856019 Human_Phenotype_Ontology:HP:0002536,Human_Phenotype_Ontology:HP:0006900,MedGen:C1856019 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAEP Kleefstra syndrome 1 mondo_mondo_0027407_medgen_c0795833_omim_610253_orphanet_261494 MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PADI3 PADI3-related disorder padi3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PADI3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS2 PACS2-related disorder pacs2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS2 Developmental and epileptic encephalopathy, 66 mondo_mondo_0054845_medgen_c4748070_omim_618067 MONDO:MONDO:0054845,MedGen:C4748070,OMIM:618067 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS2 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS1 PACS1-related syndrome pacs1_related_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS1 PACS1-related disorder pacs1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACS1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACRG Young-onset Parkinson disease mondo_mondo_0017279_medgen_c4275179_orphanet_2828 MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PACRG Autosomal dominant Parkinson disease 1 mondo_mondo_0008200_medgen_c1868595_omim_168601 MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPC1L Inherited oocyte maturation defect mondo_mondo_0014769_medgen_cn238505_omim_ps615774 MONDO:MONDO:0014769,MedGen:CN238505,OMIM:PS615774 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPC1L Female infertility due to zona pellucida defect mondo_mondo_0014342_medgen_c4014291_omim_615774_orphanet_404466 MONDO:MONDO:0014342,MedGen:C4014291,OMIM:615774,Orphanet:404466 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPC1 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence PABPC1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HTM Poirier-Bienvenu neurodevelopmental syndrome mondo_mondo_0032889_medgen_c5231482_omim_618732_orphanet_689397 MONDO:MONDO:0032889,MedGen:C5231482,OMIM:618732,Orphanet:689397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HTM Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P4HA1 Congenital disorder of connective tissue congenital_disorder_of_connective_tissue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H2 Rare isolated myopia medgen_c4751232_orphanet_98619 MedGen:C4751232,Orphanet:98619 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H2 P3H2-related disorder p3h2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H2 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H1 Osteogenesis Imperfecta, Recessive osteogenesis_imperfecta_recessive . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY8 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 P2RY12-related disorder p2ry12_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 MED12L-associated neurodevelopmental disorder med12l_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 Impaired ADP-induced platelet aggregation human_phenotype_ontology_hp_0004866_medgen_c4025282 Human_Phenotype_Ontology:HP:0004866,MedGen:C4025282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RY12 Abnormal platelet function human_phenotype_ontology_hp_0011869_medgen_c0855740 Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P2RX2 Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Myopathy with tubular aggregates mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Distal myopathy, Tateyama type mondo_mondo_0013686_medgen_c3280443_omim_614321_orphanet_488650 MONDO:MONDO:0013686,MedGen:C3280443,OMIM:614321,Orphanet:488650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR CAV3-related disorder cav3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXTR Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXSM Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXA1L Lysinuric protein intolerance mondo_mondo_0009109_medgen_c0268647_omim_222700_orphanet_470 MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Protruding ear human_phenotype_ontology_hp_0000411_human_phenotype_ontology_hp_0000412_medgen_c1855285 Human_Phenotype_Ontology:HP:0000411,Human_Phenotype_Ontology:HP:0000412,MedGen:C1855285 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Pointed chin human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Pituitary hormone deficiency, combined, 6 mondo_mondo_0013518_medgen_c3151440_omim_613986 MONDO:MONDO:0013518,MedGen:C3151440,OMIM:613986 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Phonophobia human_phenotype_ontology_hp_0002183_medgen_c0751466 Human_Phenotype_Ontology:HP:0002183,MedGen:C0751466 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Hypotelorism human_phenotype_ontology_hp_0000601_human_phenotype_ontology_hp_0007877_medgen_c0424711 Human_Phenotype_Ontology:HP:0000601,Human_Phenotype_Ontology:HP:0007877,MedGen:C0424711 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Hypertonia human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Horizontal nystagmus human_phenotype_ontology_hp_0000666_medgen_c0271385 Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Anxiety human_phenotype_ontology_hp_0000739_mondo_mondo_0011918_medgen_c0003467_omim_607834 Human_Phenotype_Ontology:HP:0000739,MONDO:MONDO:0011918,MedGen:C0003467,OMIM:607834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTULIN Chondrocalcinosis 2 mondo_mondo_0007319_medgen_c0856830_omim_118600_orphanet_1416 MONDO:MONDO:0007319,MedGen:C0856830,OMIM:118600,Orphanet:1416 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTULIN CHONDROCALCINOSIS 2, SPORADIC medgen_c4016917 MedGen:C4016917 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTULIN Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant mondo_mondo_0700338_medgen_c5975538_omim_621030 MONDO:MONDO:0700338,MedGen:C5975538,OMIM:621030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD7A Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD7A Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD7A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD7A Language disorder human_phenotype_ontology_hp_0002463_mondo_mondo_0004750_medgen_c0023015 Human_Phenotype_Ontology:HP:0002463,MONDO:MONDO:0004750,MedGen:C0023015 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD7A Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD5 OTUD5-related disorder otud5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD5 Neurodegeneration with brain iron accumulation 5 mondo_mondo_0010476_medgen_c3550973_omim_300894_orphanet_329284 MONDO:MONDO:0010476,MedGen:C3550973,OMIM:300894,Orphanet:329284 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTUD5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOP2 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL Meniere disease mondo_mondo_0007972_medgen_c0025281_omim_156000 MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOA Autosomal recessive nonsyndromic hearing loss 7 mondo_mondo_0010967_medgen_c1832978_omim_600974_orphanet_90636 MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOA Autosomal recessive nonsyndromic hearing loss 1A mondo_mondo_0009076_medgen_c2673759_omim_220290_orphanet_90636 MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTC Protein avoidance human_phenotype_ontology_hp_0002038_medgen_c1839531 Human_Phenotype_Ontology:HP:0002038,MedGen:C1839531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTC Hyperammonemia human_phenotype_ontology_hp_0001987_human_phenotype_ontology_hp_0008308_human_phenotype_ontology_hp_0008334_medgen_c5574662 Human_Phenotype_Ontology:HP:0001987,Human_Phenotype_Ontology:HP:0008308,Human_Phenotype_Ontology:HP:0008334,MedGen:C5574662 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTC Granulomatous disease, chronic, X-linked mondo_mondo_0010600_medgen_c1844376_omim_306400_orphanet_379 MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTC Abnormal circulating ornithine concentration human_phenotype_ontology_hp_0012025_medgen_c4023070 Human_Phenotype_Ontology:HP:0012025,MedGen:C4023070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSTM1 Osteopetrosis human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSM Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome mondo_mondo_0014558_medgen_c4225396_omim_616268_orphanet_457193 MONDO:MONDO:0014558,MedGen:C4225396,OMIM:616268,Orphanet:457193 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSGEP Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 mondo_mondo_0014758_medgen_c4225221_omim_616738_orphanet_71289 MONDO:MONDO:0014758,MedGen:C4225221,OMIM:616738,Orphanet:71289 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSGEP OSGEP-related disorder osgep_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSGEP Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSGEP Galloway-Mowat syndrome mondo_mondo_0009627_medgen_c0795949_omim_ps251300_orphanet_2065 MONDO:MONDO:0009627,MedGen:C0795949,OMIM:PS251300,Orphanet:2065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSBPL8 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSBPL8 Bardet-Biedl syndrome 10 mondo_mondo_0014438_medgen_c1859568_omim_615987_orphanet_110 MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSBPL8 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OSBP Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC1 ORC1-related disorder orc1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ORC1 Meier-Gorlin syndrome mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OR10Z1 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome mondo_mondo_0008278_medgen_c1832942_omim_175050_orphanet_2929 MONDO:MONDO:0008278,MedGen:C1832942,OMIM:175050,Orphanet:2929 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPTN Amyotrophic lateral sclerosis type 10 mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPN1MW Cone monochromatism human_phenotype_ontology_hp_0007939_mondo_mondo_0010563_medgen_c0339537_omim_303700_orphanet_16 Human_Phenotype_Ontology:HP:0007939,MONDO:MONDO:0010563,MedGen:C0339537,OMIM:303700,Orphanet:16 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPN1MW Cone dystrophy 5, X-linked mondo_mondo_0800319_medgen_c3887937 MONDO:MONDO:0800319,MedGen:C3887937 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPN1MW Achromatopsia human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 Oligohydramnios human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPCML Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Possible mitochondrial disorder - nuclear genes possible_mitochondrial_disorder_nuclear_genes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Ocular impairment ocular_impairment . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Hereditary neuropathy or pain disorder hereditary_neuropathy_or_pain_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Dominant hereditary optic atrophy mondo_mondo_0020250_medgen_c4551508_orphanet_98672 MONDO:MONDO:0020250,MedGen:C4551508,Orphanet:98672 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Autosomal dominant cerebellar ataxia mondo_mondo_0020380_medgen_c4087347_omim_ps164400_orphanet_99 MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 3-Methylglutaconic aciduria type 3 mondo_mondo_0009787_medgen_c0574084_omim_258501_orphanet_67047 MONDO:MONDO:0009787,MedGen:C0574084,OMIM:258501,Orphanet:67047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OGT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OGDHL Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Orofaciodigital syndrome mondo_mondo_0015375_medgen_c0029294_omim_ps311200_orphanet_140997 MONDO:MONDO:0015375,MedGen:C0029294,OMIM:PS311200,Orphanet:140997 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Orofacial-digital syndrome III mondo_mondo_0009793_medgen_c0406726_omim_258850_orphanet_2752 MONDO:MONDO:0009793,MedGen:C0406726,OMIM:258850,Orphanet:2752 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 OFD1-related ciliopathy mondo_mondo_1040039_medgen_cn379779 MONDO:MONDO:1040039,MedGen:CN379779 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Kidney failure mondo_mondo_0001106_medgen_c0035078 MONDO:MONDO:0001106,MedGen:C0035078 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Hereditary spastic paraplegia 4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 COACH syndrome mondo_mondo_0100349_medgen_c1857662_orphanet_1454 MONDO:MONDO:0100349,MedGen:C1857662,Orphanet:1454 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODF2 ODF2-related disorder odf2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAPH condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD4 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD4 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD3 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD3 ODAD3-related disorder odad3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD2 ODAD2-related disorder odad2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD2 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD1 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCLN OCLN-related disorder ocln_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 Hypophosphatasia mondo_mondo_0018570_mesh_d007014_medgen_c0020630_orphanet_436 MONDO:MONDO:0018570,MeSH:D007014,MedGen:C0020630,Orphanet:436 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 Brown oculocutaneous albinism medgen_c0268497 MedGen:C0268497 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSL1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN Hearing loss, autosomal recessive 120 mondo_mondo_0859374_medgen_c5774309_omim_620238 MONDO:MONDO:0859374,MedGen:C5774309,OMIM:620238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN Arrhythmogenic right ventricular dysplasia 9 mondo_mondo_0012180_medgen_c1836906_omim_609040 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSCN Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT Visual field defect human_phenotype_ontology_hp_0001123_medgen_c3887875 Human_Phenotype_Ontology:HP:0001123,MedGen:C3887875 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT Pain human_phenotype_ontology_hp_0012531_medgen_c0030193 Human_Phenotype_Ontology:HP:0012531,MedGen:C0030193 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT Abnormal choroid morphology human_phenotype_ontology_hp_0000610_mondo_mondo_0001898_medgen_c4025836 Human_Phenotype_Ontology:HP:0000610,MONDO:MONDO:0001898,MedGen:C4025836 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAS2 Autoinflammation and autoimmunity with immune dysregulation 2 mondo_mondo_0700392_medgen_cn380262_omim_621409 MONDO:MONDO:0700392,MedGen:CN380262,OMIM:621409 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAS1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NYX inherited retinal disease inherited_retinal_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NYX Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NXT2 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NXN Distal shortening of limbs human_phenotype_ontology_hp_0006402_medgen_c1840307 Human_Phenotype_Ontology:HP:0006402,MedGen:C1840307 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NXF3 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUSAP1 Microcephaly, seizures, and developmental delay mondo_mondo_0013254_medgen_c3150667_omim_613402_orphanet_1934 MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUS1 NUS1-related epilepsy-myoclonus-ataxia syndrome nus1_related_epilepsy_myoclonus_ataxia_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUS1 Congenital bilateral perisylvian syndrome human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP98 Hirschsprung disease, susceptibility to, 1 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP93 NUP93-related disorder nup93_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP93 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP62 Infantile bilateral striatal necrosis mondo_mondo_0015518_medgen_c0795996_orphanet_1576 MONDO:MONDO:0015518,MedGen:C0795996,Orphanet:1576 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 Recurrent encephalopathy human_phenotype_ontology_hp_0006947_human_phenotype_ontology_hp_0007335_medgen_c1850719 Human_Phenotype_Ontology:HP:0006947,Human_Phenotype_Ontology:HP:0007335,MedGen:C1850719 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 Progressive microcephaly human_phenotype_ontology_hp_0000253_medgen_c1850456 Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 NUP214-related disorder nup214_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 Growth delay human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP214 Congenital anomaly of face medgen_c0266617 MedGen:C0266617 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP160 NUP160-related disorder nup160_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP155 Atrial fibrillation, familial, 15 mondo_mondo_0014340_medgen_c4014269_omim_615770 MONDO:MONDO:0014340,MedGen:C4014269,OMIM:615770 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP133 Autosomal recessive NUP133-related disorders autosomal_recessive_nup133_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 Ovarian dysgenesis 6 mondo_mondo_0054850_medgen_c4748084_omim_618078 MONDO:MONDO:0054850,MedGen:C4748084,OMIM:618078 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 Light complexion light_complexion . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUP107 Early onset focal segmental glomerulosclerosis early_onset_focal_segmental_glomerulosclerosis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUMA1 Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUF2 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUF2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDT2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDT2 NUDT2-associated condition nudt2_associated_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDT2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDT2 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDCD3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDC Obesity, mild, early-onset medgen_c4016893 MedGen:C4016893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUDC Inherited obesity mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUBPL Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUAK2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUAK2 Anencephaly 2 mondo_mondo_0030338_medgen_c5561945_omim_619452 MONDO:MONDO:0030338,MedGen:C5561945,OMIM:619452 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 medgen_c4760611_omim_618377 MedGen:C4760611,OMIM:618377 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 NTRK1-related disorder ntrk1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 Familial medullary thyroid carcinoma mondo_mondo_0007958_medgen_c1833921_omim_155240_orphanet_653_orphanet_99361 MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240,Orphanet:653,Orphanet:99361 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTNG2 Stereotypical hand wringing human_phenotype_ontology_hp_0012171_medgen_c0562479 Human_Phenotype_Ontology:HP:0012171,MedGen:C0562479 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTNG2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTNG2 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTNG2 Areflexia human_phenotype_ontology_hp_0001284_human_phenotype_ontology_hp_0001314_medgen_c0234146 Human_Phenotype_Ontology:HP:0001284,Human_Phenotype_Ontology:HP:0001314,MedGen:C0234146 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTNG2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTHL1 NTHL1-related disorder nthl1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTHL1 Familial adenomatous polyposis 1 mondo_mondo_0021056_medgen_c2713442_omim_175100 MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTF4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5DC4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5C2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSRP1 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSMF Pituitary stalk interruption syndrome mondo_mondo_0019828_medgen_c4053775_orphanet_95496 MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSMF Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSMCE3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSF condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 atypical Wolf-Hirschhorn syndrome atypical_wolf_hirschhorn_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 NSD2-associated disorder nsd2_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Tall stature human_phenotype_ontology_hp_0000098_human_phenotype_ontology_hp_0001527_human_phenotype_ontology_hp_0003515_human_phenotype_ontology_hp_0003516_medgen_c0241240 Human_Phenotype_Ontology:HP:0000098,Human_Phenotype_Ontology:HP:0001527,Human_Phenotype_Ontology:HP:0003515,Human_Phenotype_Ontology:HP:0003516,MedGen:C0241240 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Preeclampsia human_phenotype_ontology_hp_0100602_mondo_mondo_0005081_medgen_c0032914_omim_ps189800_orphanet_275555 Human_Phenotype_Ontology:HP:0100602,MONDO:MONDO:0005081,MedGen:C0032914,OMIM:PS189800,Orphanet:275555 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Pointed chin human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Overgrowth human_phenotype_ontology_hp_0001548_medgen_c1849265 Human_Phenotype_Ontology:HP:0001548,MedGen:C1849265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Osteopenia human_phenotype_ontology_hp_0000938_human_phenotype_ontology_hp_0002768_human_phenotype_ontology_hp_0002799_human_phenotype_ontology_hp_0002800_medgen_c0029453 Human_Phenotype_Ontology:HP:0000938,Human_Phenotype_Ontology:HP:0002768,Human_Phenotype_Ontology:HP:0002799,Human_Phenotype_Ontology:HP:0002800,MedGen:C0029453 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Increased body weight human_phenotype_ontology_hp_0004324_human_phenotype_ontology_hp_0045083_medgen_c0043094 Human_Phenotype_Ontology:HP:0004324,Human_Phenotype_Ontology:HP:0045083,MedGen:C0043094 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Holoprosencephaly 2 mondo_mondo_0007999_medgen_c1834877_omim_157170_orphanet_2162 MONDO:MONDO:0007999,MedGen:C1834877,OMIM:157170,Orphanet:2162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 High forehead human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 High anterior hairline human_phenotype_ontology_hp_0009890_medgen_c3276036 Human_Phenotype_Ontology:HP:0009890,MedGen:C3276036 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN3 Relative macrocephaly human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN2 NRXN2-related developmental disorder nrxn2_related_developmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN1 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRROS NRROS-related disorder nrros_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRP2 NRP2-related disorder nrp2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRL Enhanced S-cone syndrome mondo_mondo_0100288_medgen_c1849394_omim_ps268100_orphanet_53540 MONDO:MONDO:0100288,MedGen:C1849394,OMIM:PS268100,Orphanet:53540 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRIP1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRDE2 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss mondo_mondo_0859296_medgen_c5774229_omim_620071 MONDO:MONDO:0859296,MedGen:C5774229,OMIM:620071 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRCAM condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Thyroid cancer, nonmedullary, 2 mondo_mondo_0008566_medgen_c4225426_omim_188470 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Pyogenic granuloma mondo_mondo_0022096_medgen_c0085653 MONDO:MONDO:0022096,MedGen:C0085653 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Neurocutaneous melanocytosis mondo_mondo_0009578_medgen_c0544862_omim_249400_orphanet_2481 MONDO:MONDO:0009578,MedGen:C0544862,OMIM:249400,Orphanet:2481 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Myelodysplastic syndrome progressed to acute myeloid leukemia myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Increased nuchal translucency human_phenotype_ontology_hp_0010880_medgen_c4023676 Human_Phenotype_Ontology:HP:0010880,MedGen:C4023676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Chronic myelogenous leukemia, BCR-ABL1 positive human_phenotype_ontology_hp_0005506_human_phenotype_ontology_hp_0005544_mondo_mondo_0011996_mesh_d015464_medgen_c0279543_omim_608232_orphanet_521 Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAS Acute megakaryoblastic leukemia in down syndrome mondo_mondo_0020526_medgen_c5925108_orphanet_99887 MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAP Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRAP Mitochondrial complex I deficiency, nuclear type 4 mondo_mondo_0032609_medgen_c4748753_omim_618225 MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR6A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR6A1 Isolated anophthalmia-microphthalmia syndrome mondo_mondo_0016764_medgen_c5679828_orphanet_2542 MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Autosomal dominant NR5A1-related disorders autosomal_dominant_nr5a1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 ADRENAL INSUFFICIENCY, NR5A1-RELATED medgen_c4479664 MedGen:C4479664 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 46,XY partial gonadal dysgenesis mondo_mondo_0016674_medgen_c4510744_orphanet_251510 MONDO:MONDO:0016674,MedGen:C4510744,Orphanet:251510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Parkinson disease, late-onset mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 NR4A2-related disorder nr4a2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C2 Pseudohypoaldosteronism human_phenotype_ontology_hp_0008228_human_phenotype_ontology_hp_0008242_mondo_mondo_0018638_medgen_c0033805_orphanet_444916 Human_Phenotype_Ontology:HP:0008228,Human_Phenotype_Ontology:HP:0008242,MONDO:MONDO:0018638,MedGen:C0033805,Orphanet:444916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C1 GLUCOCORTICOID RESISTANCE, CELLULAR medgen_c4016112 MedGen:C4016112 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C1 GLUCOCORTICOID RESISTANCE, ATYPICAL medgen_c1841973 MedGen:C1841973 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C1 Deficiency of galactokinase mondo_mondo_0009255_medgen_c0268155_omim_230200_orphanet_352_orphanet_79237 MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 NR2F2-related disorder nr2f2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 NR2F2-Releated Disorders nr2f2_releated_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 Congenital heart disease (variable) medgen_c3805326 MedGen:C3805326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 Asplenia human_phenotype_ontology_hp_0001746_medgen_c5779621 Human_Phenotype_Ontology:HP:0001746,MedGen:C5779621 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F2 46,XY disorder of sex development mondo_mondo_0020040_medgen_c2751824_orphanet_98085 MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1-AS1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1-AS1 NR2F1-related disorder nr2f1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1 NR2F1-related disorder nr2f1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Ocular albinism human_phenotype_ontology_hp_0001107_human_phenotype_ontology_hp_0007745_human_phenotype_ontology_hp_0007837_mondo_mondo_0017304_mesh_d016117_medgen_c0078917_orphanet_284804 Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Horizontal nystagmus human_phenotype_ontology_hp_0000666_medgen_c0271385 Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Color vision defect human_phenotype_ontology_hp_0000551_medgen_c0234629 Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2C2AP MHC class II deficiency mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2C1 Flexion contracture human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR1H3 Multiple sclerosis mondo_mondo_0005301_medgen_c0026769 MONDO:MONDO:0005301,MedGen:C0026769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR1D2 Familial atrioventricular septal defect mondo_mondo_0020290_medgen_cn029142_omim_ps606215_orphanet_98722 MONDO:MONDO:0020290,MedGen:CN029142,OMIM:PS606215,Orphanet:98722 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR1D1 Congenital nongoitrous hypothyroidism 6 mondo_mondo_0013757_medgen_c3280817_omim_614450_orphanet_97927 MONDO:MONDO:0013757,MedGen:C3280817,OMIM:614450,Orphanet:97927 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B2 Obesity, mild, early-onset medgen_c4016893 MedGen:C4016893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B2 Inherited obesity mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B1 Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPTX1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPTX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPTN NPTN-associated neurodevelopmental disorder nptn_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL3 Epilepsy, familial focal, with variable foci 1 mondo_mondo_0024556_medgen_c4551983_omim_604364 MONDO:MONDO:0024556,MedGen:C4551983,OMIM:604364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL2 Neonatal respiratory distress human_phenotype_ontology_hp_0002643_medgen_c4281993 Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL2 NPRL2-related disorder nprl2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL2 Familial focal epilepsy with variable foci mondo_mondo_0020310_medgen_c1858477_omim_ps604364_orphanet_98820 MONDO:MONDO:0020310,MedGen:C1858477,OMIM:PS604364,Orphanet:98820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Disproportionate short stature human_phenotype_ontology_hp_0003498_human_phenotype_ontology_hp_0008895_human_phenotype_ontology_hp_0008900_medgen_c0878659 Human_Phenotype_Ontology:HP:0003498,Human_Phenotype_Ontology:HP:0008895,Human_Phenotype_Ontology:HP:0008900,MedGen:C0878659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPPA Atrial fibrillation, familial, 6 mondo_mondo_0012816_medgen_c2677294_omim_612201 MONDO:MONDO:0012816,MedGen:C2677294,OMIM:612201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPNT Bilateral renal agenesis human_phenotype_ontology_hp_0010958_mondo_mondo_0015986_medgen_c1609433_orphanet_1848 Human_Phenotype_Ontology:HP:0010958,MONDO:MONDO:0015986,MedGen:C1609433,Orphanet:1848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPM1 NPM1-related disorder npm1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPM1 Myelodysplastic syndrome progressed to acute myeloid leukemia myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPM1 Acute myeloid leukemia with multilineage dysplasia mondo_mondo_0019456_medgen_c1292773_orphanet_86845 MONDO:MONDO:0019456,MedGen:C1292773,Orphanet:86845 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Proteinuria human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Finnish congenital nephrotic syndrome mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Familial idiopathic steroid-resistant nephrotic syndrome mondo_mondo_0019006_medgen_c4273714_orphanet_656 MONDO:MONDO:0019006,MedGen:C4273714,Orphanet:656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Nephrotic range proteinuria human_phenotype_ontology_hp_0012593_medgen_c0445118 Human_Phenotype_Ontology:HP:0012593,MedGen:C0445118 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Congenital and infantile nephrotic syndrome congenital_and_infantile_nephrotic_syndrome MedGen:CN276685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Infertility disorder human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) cerebello_oculo_renal_syndrome_nephronophthisis_oculomotor_apraxia_and_cerebellar_abnormalities . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Fibrotic kidney disease fibrotic_kidney_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC2 Sphingomyelin/cholesterol lipidosis mondo_mondo_0001982_medgen_c0028064 MONDO:MONDO:0001982,MedGen:C0028064 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC2 Niemann-Pick disease, type C1 mondo_mondo_0009757_medgen_c3179455_omim_257220_orphanet_646 MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Niemann-Pick disease, type C2 mondo_mondo_0011873_medgen_c1843366_omim_607625_orphanet_646 MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Lysosomal storage disease mondo_mondo_0002561_medgen_c0085078_orphanet_68366 MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPAS2 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOVA2 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOVA2 NOVA2-related disorder nova2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOVA2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Vascular dementia mondo_mondo_0004648_mesh_d015140_medgen_c0011269 MONDO:MONDO:0004648,MeSH:D015140,MedGen:C0011269 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Tension-type headache human_phenotype_ontology_hp_0012228_medgen_c0033893 Human_Phenotype_Ontology:HP:0012228,MedGen:C0033893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Recurrent subcortical infarcts human_phenotype_ontology_hp_0007236_medgen_c4024918 Human_Phenotype_Ontology:HP:0007236,MedGen:C4024918 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Progressive psychomotor deterioration human_phenotype_ontology_hp_0006856_human_phenotype_ontology_hp_0007272_medgen_c1856565 Human_Phenotype_Ontology:HP:0006856,Human_Phenotype_Ontology:HP:0007272,MedGen:C1856565 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Myofibromatosis, infantile, 1 mondo_mondo_0009227_medgen_c4551572_omim_228550_orphanet_2591 MONDO:MONDO:0009227,MedGen:C4551572,OMIM:228550,Orphanet:2591 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Migraine without aura human_phenotype_ontology_hp_0002083_mondo_mondo_0100431_medgen_c0338480 Human_Phenotype_Ontology:HP:0002083,MONDO:MONDO:0100431,MedGen:C0338480 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Cognitive impairment human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Cerebral arterial disease mondo_mondo_0006693_medgen_c0007774 MONDO:MONDO:0006693,MedGen:C0007774 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Adult onset neurodegenerative disorder adult_onset_neurodegenerative_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Adams-Oliver syndrome 5 mondo_mondo_0014459_medgen_c4014970_omim_616028_orphanet_974 MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH2 Monoclonal B-Cell Lymphocytosis medgen_c2698259 MedGen:C2698259 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH2 Keratoacanthoma human_phenotype_ontology_hp_0031525_mondo_mondo_0002527_mesh_d007636_medgen_c0022572 Human_Phenotype_Ontology:HP:0031525,MONDO:MONDO:0002527,MeSH:D007636,MedGen:C0022572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH2 KA-like vemurafenib-induced squamous lesions ka_like_vemurafenib_induced_squamous_lesions . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Early T cell progenitor acute lymphoblastic leukemia mondo_mondo_0100291_medgen_c4329780 MONDO:MONDO:0100291,MedGen:C4329780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Autosomal dominant NOTCH1-related disorders autosomal_dominant_notch1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Adams-Oliver syndrome mondo_mondo_0007034_medgen_c0265268_omim_ps100300_orphanet_974 MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS100300,Orphanet:974 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOP56 Spinocerebellar ataxia type 36 mondo_mondo_0013594_medgen_c3472711_omim_614153_orphanet_276198 MONDO:MONDO:0013594,MedGen:C3472711,OMIM:614153,Orphanet:276198 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOP10 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 mondo_mondo_0958193_medgen_c5830590_omim_620425 MONDO:MONDO:0958193,MedGen:C5830590,OMIM:620425 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NONO Non-ossifying fibromas with pathologic factures and X-linked intellectual disability non_ossifying_fibromas_with_pathologic_factures_and_x_linked_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NONO Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NONO Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NONO Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG NOG-related-symphlangism spectrum disorder nog_related_symphlangism_spectrum_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOG Bethlem myopathy 2 mondo_mondo_0034022_medgen_c4225313_omim_616471_orphanet_536516_orphanet_610 MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NODAL Visceral heterotaxy mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NODAL NODAL-related disorder nodal_related_disorder MedGen:CN239298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOD2 Inflammatory bowel disease 1 mondo_mondo_0009960_medgen_cn260071_omim_266600 MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOD2 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOC3L Nephrotic syndrome, type 3 mondo_mondo_0012546_medgen_c1853124_omim_610725_orphanet_656 MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOBOX Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOBOX NOBOX-related disorder nobox_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT2 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 autosomal recessive NMNAT1-related disorders autosomal_recessive_nmnat1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Severely reduced visual acuity human_phenotype_ontology_hp_0001141_human_phenotype_ontology_hp_0007640_human_phenotype_ontology_hp_0007842_human_phenotype_ontology_hp_0007951_human_phenotype_ontology_hp_0008023_medgen_c1301509 Human_Phenotype_Ontology:HP:0001141,Human_Phenotype_Ontology:HP:0007640,Human_Phenotype_Ontology:HP:0007842,Human_Phenotype_Ontology:HP:0007951,Human_Phenotype_Ontology:HP:0008023,MedGen:C1301509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 NMNAT1-related retinopathy mondo_mondo_0800101_medgen_cn315671 MONDO:MONDO:0800101,MedGen:CN315671 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Gastrointestinal dysmotility human_phenotype_ontology_hp_0002579_medgen_c1836923 Human_Phenotype_Ontology:HP:0002579,MedGen:C1836923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Diarrhea human_phenotype_ontology_hp_0002014_medgen_c0011991 Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP7 Oocyte/zygote/embryo maturation arrest 25 mondo_mondo_0980964_medgen_cn380832_omim_621471 MONDO:MONDO:0980964,MedGen:CN380832,OMIM:621471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP7 NLRP7-related disorder nlrp7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP5 Preimplantation lethality human_phenotype_ontology_hp_0032479_medgen_c5139371 Human_Phenotype_Ontology:HP:0032479,MedGen:C5139371 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Pleural effusion human_phenotype_ontology_hp_0002202_medgen_c0032227 Human_Phenotype_Ontology:HP:0002202,MedGen:C0032227 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Pericardial effusion human_phenotype_ontology_hp_0001698_mondo_mondo_0001370_medgen_c0031039 Human_Phenotype_Ontology:HP:0001698,MONDO:MONDO:0001370,MedGen:C0031039 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Fever human_phenotype_ontology_hp_0001945_medgen_c0015967 Human_Phenotype_Ontology:HP:0001945,MedGen:C0015967 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP12 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP1 Respiratory papillomatosis, juvenile recurrent, congenital mondo_mondo_0032925_medgen_c5394112_omim_618803 MONDO:MONDO:0032925,MedGen:C5394112,OMIM:618803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP1 Autoinflammation with arthritis and dyskeratosis mondo_mondo_0060457_medgen_c4479278_omim_617388 MONDO:MONDO:0060457,MedGen:C4479278,OMIM:617388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRC4 Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) syndrome_of_entercolitis_and_autoinflmmation_caused_by_mutation_of_nlrc4_scan4 MedGen:CN207522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN4X X-linked intellectual disability mondo_mondo_0100284_medgen_c1136249 MONDO:MONDO:0100284,MedGen:C1136249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN3 X-linked complex neurodevelopmental disorder mondo_mondo_0100148_medgen_cn294807 MONDO:MONDO:0100148,MedGen:CN294807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN3 Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN3 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLGN2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX3-2 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-6 Persistent truncus arteriosus human_phenotype_ontology_hp_0001660_mondo_mondo_0018072_medgen_c0041207_orphanet_3384 Human_Phenotype_Ontology:HP:0001660,MONDO:MONDO:0018072,MedGen:C0041207,Orphanet:3384 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-6 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Ventricular fibrillation efo_the_experimental_factor_ontology_efo_0004287_human_phenotype_ontology_hp_0001663_human_phenotype_ontology_hp_0005166_mondo_mondo_0000190_medgen_c0042510 EFO:_The_Experimental_Factor_Ontology:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Noncompaction cardiomyopathy human_phenotype_ontology_hp_0012817_medgen_c1839832 Human_Phenotype_Ontology:HP:0012817,MedGen:C1839832 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Conotruncal heart malformations mondo_mondo_0016581_medgen_c1857586_omim_217095_orphanet_2445_orphanet_3384_orphanet_3426 MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Thyroid cancer, nonmedullary, 1 mondo_mondo_0008567_medgen_c4721429_omim_188550 MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Hypertrophic cardiomyopathy 8 mondo_mondo_0012111_medgen_c1837471_omim_608751 MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Chorea human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKIRAS1 RPL15-related disorder rpl15_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKAP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIT1 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIT1 Brain small vessel disease 4 mondo_mondo_0979873_medgen_cn379788_omim_621313 MONDO:MONDO:0979873,MedGen:CN379788,OMIM:621313 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NISCH Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NISCH Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPSNAP3B Tangier disease mondo_mondo_0008783_medgen_c0039292_omim_205400_orphanet_31150 MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPSNAP3B Hypoalphalipoproteinemia, primary, 1 mondo_mondo_0011393_medgen_c5231558_omim_604091_orphanet_425 MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Vesicoureteral reflux human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Single umbilical artery human_phenotype_ontology_hp_0001195_medgen_c1384670 Human_Phenotype_Ontology:HP:0001195,MedGen:C1384670 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Right ventricular hypertrophy human_phenotype_ontology_hp_0001667_medgen_c0162770 Human_Phenotype_Ontology:HP:0001667,MedGen:C0162770 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Pulmonary hypoplasia human_phenotype_ontology_hp_0002089_mondo_mondo_0800133_medgen_c0265783 Human_Phenotype_Ontology:HP:0002089,MONDO:MONDO:0800133,MedGen:C0265783 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Plagiocephaly human_phenotype_ontology_hp_0001121_human_phenotype_ontology_hp_0001357_medgen_c0265529 Human_Phenotype_Ontology:HP:0001121,Human_Phenotype_Ontology:HP:0001357,MedGen:C0265529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Penile hypospadias human_phenotype_ontology_hp_0003244_medgen_c1691215 Human_Phenotype_Ontology:HP:0003244,MedGen:C1691215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Microretrognathia human_phenotype_ontology_hp_0000308_medgen_c1839546 Human_Phenotype_Ontology:HP:0000308,MedGen:C1839546 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Long philtrum human_phenotype_ontology_hp_0000343_medgen_c1865014 Human_Phenotype_Ontology:HP:0000343,MedGen:C1865014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Horseshoe kidney human_phenotype_ontology_hp_0000085_medgen_c0221353 Human_Phenotype_Ontology:HP:0000085,MedGen:C0221353 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Cryptorchidism human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Congenital diaphragmatic hernia human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Brachydactyly human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPAL4 Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPAL4 Erythrokeratodermia variabilis et progressiva 1 mondo_mondo_0033010_medgen_c4551486_omim_133200_orphanet_317 MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPA2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPA1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPA1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIN Joubert syndrome 3 mondo_mondo_0012078_medgen_c1837713_omim_608629_orphanet_220493 MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NID1 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NID1 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NID1 Hemiparesis human_phenotype_ontology_hp_0001269_medgen_c0018989 Human_Phenotype_Ontology:HP:0001269,MedGen:C0018989 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NID1 Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHS X-linked syndromic intellectual disability mondo_mondo_0020119_medgen_cn228426_omim_ps309510 MONDO:MONDO:0020119,MedGen:CN228426,OMIM:PS309510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHS X-linked NHS-related disorders x_linked_nhs_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHLRC1 NHLRC1-related disorder nhlrc1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHLRC1 Myoclonic epilepsy of Lafora 1 mondo_mondo_0958199_medgen_cn377204_omim_254780 MONDO:MONDO:0958199,MedGen:CN377204,OMIM:254780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHEJ1 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHEJ1 Microphthalmia/coloboma 13 mondo_mondo_0975809_medgen_c5975436_omim_620968 MONDO:MONDO:0975809,MedGen:C5975436,OMIM:620968 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHEJ1 Isolated anophthalmia-microphthalmia syndrome mondo_mondo_0016764_medgen_c5679828_orphanet_2542 MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Neuromotor delay neuromotor_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 NGLY1-related disorder ngly1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGF condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGF Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFXL1 Structural heart defects and renal anomalies syndrome mondo_mondo_0044321_medgen_c4479549_omim_617478_orphanet_689822 MONDO:MONDO:0044321,MedGen:C4479549,OMIM:617478,Orphanet:689822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB2 NFKB2-related disorder nfkb2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB2 Immunodeficiency, common variable, 1 mondo_mondo_0011864_medgen_c3149378_omim_607594_orphanet_1572_orphanet_695183 MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594,Orphanet:1572,Orphanet:695183 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB2 Common variable immunodeficiency mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB1 Primary ciliary dyskinesia 3 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Short nose human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Proximal placement of thumb human_phenotype_ontology_hp_0001170_human_phenotype_ontology_hp_0005668_human_phenotype_ontology_hp_0009623_medgen_c1865572 Human_Phenotype_Ontology:HP:0001170,Human_Phenotype_Ontology:HP:0005668,Human_Phenotype_Ontology:HP:0009623,MedGen:C1865572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Proptosis human_phenotype_ontology_hp_0000520_human_phenotype_ontology_hp_0000536_human_phenotype_ontology_hp_0000644_human_phenotype_ontology_hp_0000645_human_phenotype_ontology_hp_0007711_human_phenotype_ontology_hp_0007870_mondo_mondo_0004770_medgen_c0015300 Human_Phenotype_Ontology:HP:0000520,Human_Phenotype_Ontology:HP:0000536,Human_Phenotype_Ontology:HP:0000644,Human_Phenotype_Ontology:HP:0000645,Human_Phenotype_Ontology:HP:0007711,Human_Phenotype_Ontology:HP:0007870,MONDO:MONDO:0004770,MedGen:C0015300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Pointed chin human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Midface retrusion human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Megalocornea human_phenotype_ontology_hp_0000485_human_phenotype_ontology_hp_0007660_mondo_mondo_0009576_medgen_c5574682_omim_249300 Human_Phenotype_Ontology:HP:0000485,Human_Phenotype_Ontology:HP:0007660,MONDO:MONDO:0009576,MedGen:C5574682,OMIM:249300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Long toe human_phenotype_ontology_hp_0010511_medgen_c3150613 Human_Phenotype_Ontology:HP:0010511,MedGen:C3150613 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Long fingers human_phenotype_ontology_hp_0006010_human_phenotype_ontology_hp_0100807_medgen_c1858091 Human_Phenotype_Ontology:HP:0006010,Human_Phenotype_Ontology:HP:0100807,MedGen:C1858091 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX High, narrow palate human_phenotype_ontology_hp_0002705_medgen_c1837404 Human_Phenotype_Ontology:HP:0002705,MedGen:C1837404 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Distal ulnar hypoplasia human_phenotype_ontology_hp_0005033_human_phenotype_ontology_hp_0006474_medgen_c1833145 Human_Phenotype_Ontology:HP:0005033,Human_Phenotype_Ontology:HP:0006474,MedGen:C1833145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Congenital laryngomalacia human_phenotype_ontology_hp_0001601_mondo_mondo_0007878_medgen_c0264303_omim_150280_orphanet_2373 Human_Phenotype_Ontology:HP:0001601,MONDO:MONDO:0007878,MedGen:C0264303,OMIM:150280,Orphanet:2373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Blue sclerae human_phenotype_ontology_hp_0000592_medgen_c0542514 Human_Phenotype_Ontology:HP:0000592,MedGen:C0542514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIB Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFE2L2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFE2L2 Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFE2L2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFATC2 Joint contractures, osteochondromas, and B-cell lymphoma mondo_mondo_0859369_medgen_c5774305_omim_620232 MONDO:MONDO:0859369,MedGen:C5774305,OMIM:620232 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFATC2 Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFASC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 Spindle cell sarcoma mondo_mondo_0002927_medgen_c0205945 MONDO:MONDO:0002927,MedGen:C0205945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF2 Ependymoma human_phenotype_ontology_hp_0002888_mondo_mondo_0016698_mesh_d004806_medgen_c0014474_orphanet_251636 Human_Phenotype_Ontology:HP:0002888,MONDO:MONDO:0016698,MeSH:D004806,MedGen:C0014474,Orphanet:251636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Vascular dilatation human_phenotype_ontology_hp_0002617_medgen_c0002940 Human_Phenotype_Ontology:HP:0002617,MedGen:C0002940 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Thoracic scoliosis human_phenotype_ontology_hp_0002943_human_phenotype_ontology_hp_0004615_medgen_c1857790 Human_Phenotype_Ontology:HP:0002943,Human_Phenotype_Ontology:HP:0004615,MedGen:C1857790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Spinal neurofibroma human_phenotype_ontology_hp_0007077_human_phenotype_ontology_hp_0009735_medgen_c4024217 Human_Phenotype_Ontology:HP:0007077,Human_Phenotype_Ontology:HP:0009735,MedGen:C4024217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Precursor B-cell acute lymphoblastic leukemia human_phenotype_ontology_hp_0004812_mondo_mondo_0020511_medgen_c0349636_orphanet_99860 Human_Phenotype_Ontology:HP:0004812,MONDO:MONDO:0020511,MedGen:C0349636,Orphanet:99860 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Plexiform neurofibroma human_phenotype_ontology_hp_0009732_mondo_mondo_0003304_medgen_c0206728 Human_Phenotype_Ontology:HP:0009732,MONDO:MONDO:0003304,MedGen:C0206728 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Pilocytic astrocytoma human_phenotype_ontology_hp_0033680_mondo_mondo_0016691_medgen_c0334583_orphanet_251612 Human_Phenotype_Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Pheochromocytoma human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Neurofibrmatosis type 1 neurofibrmatosis_type_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Neoplasm of brain human_phenotype_ontology_hp_0030692_mondo_mondo_0021211_mesh_d001932_medgen_c0006118 Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Mosaic neurofibromatosis type 1 mondo_mondo_0859763_medgen_c5782097_orphanet_634461 MONDO:MONDO:0859763,MedGen:C5782097,Orphanet:634461 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss mondo_mondo_0015912_medgen_c5200934_omim_155100_orphanet_182050 MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Large cafe-au-lait macules with irregular margins human_phenotype_ontology_hp_0005605_medgen_c4025174 Human_Phenotype_Ontology:HP:0005605,MedGen:C4025174 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Increased nuchal translucency human_phenotype_ontology_hp_0010880_medgen_c4023676 Human_Phenotype_Ontology:HP:0010880,MedGen:C4023676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Focal T2 hyperintense basal ganglia lesion human_phenotype_ontology_hp_0007183_medgen_c4024926 Human_Phenotype_Ontology:HP:0007183,MedGen:C4024926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Developmental defect during embryogenesis mondo_mondo_0019755_medgen_c5680284_orphanet_93890 MONDO:MONDO:0019755,MedGen:C5680284,Orphanet:93890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Delayed fine motor development human_phenotype_ontology_hp_0010862_medgen_c4023681 Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Cervical lymphadenopathy human_phenotype_ontology_hp_0025289_medgen_c0235592 Human_Phenotype_Ontology:HP:0025289,MedGen:C0235592 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Bardet-Biedl syndrome 9 mondo_mondo_0014437_medgen_c1859567_omim_615986_orphanet_110 MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Abnormality of vision human_phenotype_ontology_hp_0000504_medgen_c4025846 Human_Phenotype_Ontology:HP:0000504,MedGen:C4025846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NF1 Abnormal lymph node morphology human_phenotype_ontology_hp_0002733_human_phenotype_ontology_hp_0008149_medgen_c0149727 Human_Phenotype_Ontology:HP:0002733,Human_Phenotype_Ontology:HP:0008149,MedGen:C0149727 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXN Heart failure mondo_mondo_0005252_medgen_c0018801 MONDO:MONDO:0005252,MedGen:C0018801 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXN Cardiomyopathy, dilated, 2M mondo_mondo_0979243_medgen_c6012748_omim_621261 MONDO:MONDO:0979243,MedGen:C6012748,OMIM:621261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXMIF Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXMIF Continuous spike and waves during slow sleep human_phenotype_ontology_hp_0031491_medgen_c3806403 Human_Phenotype_Ontology:HP:0031491,MedGen:C3806403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROG3 NEUROG3-related disorder neurog3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROG1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROD1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROD1 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROD1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEUROD1 NEUROD1-related disorder neurod1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEU1 Lysosomal storage disease mondo_mondo_0002561_medgen_c0085078_orphanet_68366 MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEU1 Autosomal recessive NEU1-related disorders autosomal_recessive_neu1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEMF NEMF-related disorder nemf_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK8 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK4 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK2 Retinitis pigmentosa 67 mondo_mondo_0014256_medgen_c3809954_omim_615565_orphanet_791 MONDO:MONDO:0014256,MedGen:C3809954,OMIM:615565,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK10 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK10 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 Short rib-polydactyly syndrome mondo_mondo_0015461_medgen_c0036996_orphanet_1505 MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Pes cavus human_phenotype_ontology_hp_0001761_medgen_c0728829 Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Peripheral demyelination human_phenotype_ontology_hp_0003381_human_phenotype_ontology_hp_0006939_human_phenotype_ontology_hp_0007282_human_phenotype_ontology_hp_0011096_medgen_c0878575 Human_Phenotype_Ontology:HP:0003381,Human_Phenotype_Ontology:HP:0006939,Human_Phenotype_Ontology:HP:0007282,Human_Phenotype_Ontology:HP:0011096,MedGen:C0878575 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL NEFL-related disorder nefl_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Hand muscle atrophy human_phenotype_ontology_hp_0006967_human_phenotype_ontology_hp_0008934_human_phenotype_ontology_hp_0008951_human_phenotype_ontology_hp_0009038_human_phenotype_ontology_hp_0009130_medgen_c0239830 Human_Phenotype_Ontology:HP:0006967,Human_Phenotype_Ontology:HP:0008934,Human_Phenotype_Ontology:HP:0008951,Human_Phenotype_Ontology:HP:0009038,Human_Phenotype_Ontology:HP:0009130,MedGen:C0239830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Distal lower limb muscle weakness human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Decreased nerve conduction velocity human_phenotype_ontology_hp_0000761_human_phenotype_ontology_hp_0000762_human_phenotype_ontology_hp_0007118_human_phenotype_ontology_hp_0007218_human_phenotype_ontology_hp_0007231_medgen_c1857640 Human_Phenotype_Ontology:HP:0000761,Human_Phenotype_Ontology:HP:0000762,Human_Phenotype_Ontology:HP:0007118,Human_Phenotype_Ontology:HP:0007218,Human_Phenotype_Ontology:HP:0007231,MedGen:C1857640 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Charcot-Marie-Tooth disease type 1C mondo_mondo_0010995_medgen_c0270913_omim_601098_orphanet_101083 MONDO:MONDO:0010995,MedGen:C0270913,OMIM:601098,Orphanet:101083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFH Charcot-Marie-Tooth disease axonal type 2C mondo_mondo_0011633_medgen_c1853710_omim_606071_orphanet_99937 MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEDD4L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEDD4L Chromosome 5Q14.3 deletion syndrome, distal mondo_mondo_0013031_medgen_c2752071_omim_612881_orphanet_2149 MONDO:MONDO:0013031,MedGen:C2752071,OMIM:612881,Orphanet:2149 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NECTIN1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NECTIN1 Orofacial cleft 7 mondo_mondo_0700251_medgen_c1833538 MONDO:MONDO:0700251,MedGen:C1833538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NECAP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEBL Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Dysphagia human_phenotype_ontology_hp_0002015_human_phenotype_ontology_hp_0002569_medgen_c0011168 Human_Phenotype_Ontology:HP:0002015,Human_Phenotype_Ontology:HP:0002569,MedGen:C0011168 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Abnormality of the neck human_phenotype_ontology_hp_0000464_medgen_c0266623 Human_Phenotype_Ontology:HP:0000464,MedGen:C0266623 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 mondo_mondo_0020858_medgen_c4748269_omim_618120 MONDO:MONDO:0020858,MedGen:C4748269,OMIM:618120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 Mitochondrial complex I deficiency, nuclear type mondo_mondo_0100223_medgen_cn263238_omim_ps252010 MONDO:MONDO:0100223,MedGen:CN263238,OMIM:PS252010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS4 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS2 Leber-like hereditary optic neuropathy, autosomal recessive 2 mondo_mondo_0958197_medgen_c5882713_omim_620569 MONDO:MONDO:0958197,MedGen:C5882713,OMIM:620569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS2 Leber optic atrophy human_phenotype_ontology_hp_0001086_human_phenotype_ontology_hp_0001112_mondo_mondo_0010788_medgen_c0917796_omim_535000_orphanet_104 Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:104 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS1 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS1 MELAS syndrome mondo_mondo_0010789_medgen_c0162671_omim_540000_orphanet_550 MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB9 Mitochondrial complex I deficiency, nuclear type 24 mondo_mondo_0032628_medgen_c4748803_omim_618245 MONDO:MONDO:0032628,MedGen:C4748803,OMIM:618245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB7 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes medgen_c5681078_orphanet_309136 MedGen:C5681078,Orphanet:309136 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB7 Mitochondrial complex I deficiency, nuclear type 39 mondo_mondo_0859320_medgen_c5774258_omim_620135 MONDO:MONDO:0859320,MedGen:C5774258,OMIM:620135 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB3 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB11 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB11 NDUFB11-related disorders mondo_mondo_1040023_medgen_cn378754 MONDO:MONDO:1040023,MedGen:CN378754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB11 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB11 Linear skin defects with multiple congenital anomalies 1 mondo_mondo_0024552_medgen_c0796070_omim_309801_orphanet_2556 MONDO:MONDO:0024552,MedGen:C0796070,OMIM:309801,Orphanet:2556 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB11 Histiocytoid cardiomyopathy human_phenotype_ontology_hp_0005152_mondo_mondo_0010771_medgen_c1708371_omim_500000_orphanet_137675 Human_Phenotype_Ontology:HP:0005152,MONDO:MONDO:0010771,MedGen:C1708371,OMIM:500000,Orphanet:137675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB10 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFB10 Mitochondrial complex 1 deficiency, nuclear type 35 mondo_mondo_0033560_medgen_c5436576_omim_619003 MONDO:MONDO:0033560,MedGen:C5436576,OMIM:619003 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF8 NDUFAF8-related disorder ndufaf8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF6 Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF5 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF5 Leber plus disease mondo_mondo_0020478_medgen_c4304725_orphanet_99718 MONDO:MONDO:0020478,MedGen:C4304725,Orphanet:99718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF4 Mitochondrial complex I deficiency, nuclear type 15 mondo_mondo_0032620_medgen_c4748778_omim_618237 MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF4 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 UV-sensitive syndrome 2 mondo_mondo_0013829_medgen_c3553298_omim_614621_orphanet_178338 MONDO:MONDO:0013829,MedGen:C3553298,OMIM:614621,Orphanet:178338 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 NDUFAF2-related disorder ndufaf2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF2 Cockayne syndrome mondo_mondo_0016006_medgen_c0009207_orphanet_191 MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF1 Mitochondrial complex I deficiency, nuclear type 11 mondo_mondo_0032617_medgen_c4748769_omim_618234 MONDO:MONDO:0032617,MedGen:C4748769,OMIM:618234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA6 NDUFA6-related disorder ndufa6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA2 Cystic Leukoencephalopathy cystic_leukoencephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA13 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA13 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA12 SLC35A2-congenital disorder of glycosylation mondo_mondo_0010478_medgen_c3806688_omim_300896_orphanet_356961 MONDO:MONDO:0010478,MedGen:C3806688,OMIM:300896,Orphanet:356961 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDST1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDST1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDRG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDRG1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Structural eye disease structural_eye_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Short lingual frenulum human_phenotype_ontology_hp_0000200_medgen_c0426501 Human_Phenotype_Ontology:HP:0000200,MedGen:C0426501 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Retinal detachment human_phenotype_ontology_hp_0000541_human_phenotype_ontology_hp_0007864_human_phenotype_ontology_hp_0008021_mondo_mondo_0008375_medgen_c0035305_omim_180050 Human_Phenotype_Ontology:HP:0000541,Human_Phenotype_Ontology:HP:0007864,Human_Phenotype_Ontology:HP:0008021,MONDO:MONDO:0008375,MedGen:C0035305,OMIM:180050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Persistent hyperplastic primary vitreous human_phenotype_ontology_hp_0007968_mondo_mondo_0019631_medgen_c0266568_omim_ps221900_orphanet_91495 Human_Phenotype_Ontology:HP:0007968,MONDO:MONDO:0019631,MedGen:C0266568,OMIM:PS221900,Orphanet:91495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP NDP-related retinopathies ndp_related_retinopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP High myopia human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Exudative vitreoretinopathy, X-linked medgen_c4016494 MedGen:C4016494 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDNF condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Tricuspid regurgitation human_phenotype_ontology_hp_0004753_human_phenotype_ontology_hp_0005180_mondo_mondo_0002870_medgen_c0040961 Human_Phenotype_Ontology:HP:0004753,Human_Phenotype_Ontology:HP:0005180,MONDO:MONDO:0002870,MedGen:C0040961 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 NDE1-related disorder nde1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Mitral regurgitation human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 mondo_mondo_0025708_medgen_c5543476_omim_619351 MONDO:MONDO:0025708,MedGen:C5543476,OMIM:619351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Aortic root aneurysm human_phenotype_ontology_hp_0002616_human_phenotype_ontology_hp_0002631_human_phenotype_ontology_hp_0004750_human_phenotype_ontology_hp_0005125_medgen_c1298820 Human_Phenotype_Ontology:HP:0002616,Human_Phenotype_Ontology:HP:0002631,Human_Phenotype_Ontology:HP:0004750,Human_Phenotype_Ontology:HP:0005125,MedGen:C1298820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Abnormal left ventricle morphology human_phenotype_ontology_hp_0001711_medgen_c0344905 Human_Phenotype_Ontology:HP:0001711,MedGen:C0344905 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDC1 Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima mondo_mondo_0979875_medgen_cn379794_omim_621328 MONDO:MONDO:0979875,MedGen:CN379794,OMIM:621328 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCSTN Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCR3 Malaria, mild, susceptibility to mondo_mondo_0012202_medgen_c1836721_omim_609148 MONDO:MONDO:0012202,MedGen:C1836721,OMIM:609148 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCR1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCR1 Oocyte/zygote/embryo maturation arrest 25 mondo_mondo_0980964_medgen_cn380832_omim_621471 MONDO:MONDO:0980964,MedGen:CN380832,OMIM:621471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCR1 NLRP7-related disorder nlrp7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCOR2 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCOR1 Thin skin human_phenotype_ontology_hp_0000963_human_phenotype_ontology_hp_0001020_medgen_c0423757 Human_Phenotype_Ontology:HP:0000963,Human_Phenotype_Ontology:HP:0001020,MedGen:C0423757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCOR1 Hyperlaxity hyperlaxity . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCOR1 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCOA3 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCLN Hirschsprung disease, susceptibility to, 1 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 NCKAP1-related neurodevelopmental disorder with autism features nckap1_related_neurodevelopmental_disorder_with_autism_features . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCKAP1 Immunodeficiency 72 with autoinflammation mondo_mondo_0033551_medgen_c5436540_omim_618982 MONDO:MONDO:0033551,MedGen:C5436540,OMIM:618982 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF2 NCF2-related disorder ncf2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF1 Hypertrophic cardiomyopathy 4 mondo_mondo_0007268_medgen_c1861862_omim_115197 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF1 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 mondo_mondo_0009310_medgen_c1856245_omim_233710_orphanet_379 MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF1 Granulomatous disease, chronic, X-linked mondo_mondo_0010600_medgen_c1844376_omim_306400_orphanet_379 MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF1 Chronic granulomatous disease mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 Alagille syndrome due to a JAG1 point mutation mondo_mondo_0016862_medgen_c1956125_omim_118450_orphanet_261619_orphanet_52 MONDO:MONDO:0016862,MedGen:C1956125,OMIM:118450,Orphanet:261619,Orphanet:52 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPG2 Khan-Khan-Katsanis syndrome mondo_mondo_0032764_medgen_c5193110_omim_618460 MONDO:MONDO:0032764,MedGen:C5193110,OMIM:618460 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPD3 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPD3 NCAPD3-related disorder ncapd3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAM1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Prostate cancer susceptibility medgen_c3469524 MedGen:C3469524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Lymphoma human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Leukemia, acute lymphocytic, susceptibility to, 1 mondo_mondo_0013108_medgen_c2751595 MONDO:MONDO:0013108,MedGen:C2751595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBN Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEAL2 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEAL2 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA typical paroxysmal kinesigenic dyskinesia typical_paroxysmal_kinesigenic_dyskinesia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA NBEA-related developmental delay and generalized epilepsy nbea_related_developmental_delay_and_generalized_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA NBEA-related complex neurodevelopmental disorder nbea_related_complex_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA Hypoplasia of scrotum medgen_c0431659 MedGen:C0431659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Optic neuropathy human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Fetal anomalies with a likely genetic cause fetal_anomalies_with_a_likely_genetic_cause . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Autosomal recessive NBAS-related disorders autosomal_recessive_nbas_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAXE NAXE-related disorder naxe_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAXD NAXD-related disorder naxd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAV3 NAV3-associated neurodevelopmental disorder nav3_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS2 NARS2-related disorder nars2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS2 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 mondo_mondo_0012191_medgen_c1836797_omim_609060_orphanet_137681 MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060,Orphanet:137681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS1 NARS1-related disorder nars1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS1 Mitochondrial complex 1 deficiency, nuclear type 35 mondo_mondo_0033560_medgen_c5436576_omim_619003 MONDO:MONDO:0033560,MedGen:C5436576,OMIM:619003 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAPEPLD Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NANOS1 Spermatogenic failure 12 mondo_mondo_0014172_medgen_c3809427_omim_615413 MONDO:MONDO:0014172,MedGen:C3809427,OMIM:615413 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALF1 Familial pancreatic carcinoma mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Intellectual disability with episodic ataxia and congenital arthrogryposis intellectual_disability_with_episodic_ataxia_and_congenital_arthrogryposis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Cachexia human_phenotype_ontology_hp_0004326_medgen_c0006625 Human_Phenotype_Ontology:HP:0004326,MedGen:C0006625 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Arthrogryposis syndrome mondo_mondo_0015225_medgen_cn261653_orphanet_109007 MONDO:MONDO:0015225,MedGen:CN261653,Orphanet:109007 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Abnormal pattern of respiration human_phenotype_ontology_hp_0002793_medgen_c1837388 Human_Phenotype_Ontology:HP:0002793,MedGen:C1837388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Lysosomal storage disease mondo_mondo_0002561_medgen_c0085078_orphanet_68366 MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NADSYN1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NACC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAALADL1 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA80 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA80 Auroneurodental syndrome mondo_mondo_0970998_medgen_c5889721_omim_620830 MONDO:MONDO:0970998,MedGen:C5889721,OMIM:620830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA30 Lethal multiystemic syndrome lethal_multiystemic_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 intellectual developmental disorder-50 with behavioral abnormalities (MRD50) intellectual_developmental_disorder_50_with_behavioral_abnormalities_mrd50 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 NAA15-related syndrome naa15_related_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 NAA10-related syndrome mondo_mondo_0100124_medgen_cn294784 MONDO:MONDO:0100124,MedGen:CN294784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence N4BP2L2 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MZT2B Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MZT2B Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MZT2B Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MZT2B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYZAP Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L MYT1L-related neurodevelopmental disorder myt1l_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYSM1 MYSM1-related disorder mysm1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Dextrocardia human_phenotype_ontology_hp_0001651_mondo_mondo_0015661_medgen_c0011813_orphanet_1666 Human_Phenotype_Ontology:HP:0001651,MONDO:MONDO:0015661,MedGen:C0011813,Orphanet:1666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYPN Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYPN Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYPN Cardiomyopathy, familial restrictive, 4 medgen_c3808963 MedGen:C3808963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOZ2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOZ2 Hypertrophic cardiomyopathy 16 mondo_mondo_0013455_medgen_c3151204_omim_613838 MONDO:MONDO:0013455,MedGen:C3151204,OMIM:613838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Urinary bladder sphincter dysfunction human_phenotype_ontology_hp_0000018_human_phenotype_ontology_hp_0002839_medgen_c1843663 Human_Phenotype_Ontology:HP:0000018,Human_Phenotype_Ontology:HP:0002839,MedGen:C1843663 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Progressive proximal muscle weakness human_phenotype_ontology_hp_0008965_human_phenotype_ontology_hp_0009073_medgen_c1836156 Human_Phenotype_Ontology:HP:0008965,Human_Phenotype_Ontology:HP:0009073,MedGen:C1836156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Progressive distal muscle weakness human_phenotype_ontology_hp_0008933_human_phenotype_ontology_hp_0009022_human_phenotype_ontology_hp_0009057_human_phenotype_ontology_hp_0009063_medgen_c1836609 Human_Phenotype_Ontology:HP:0008933,Human_Phenotype_Ontology:HP:0009022,Human_Phenotype_Ontology:HP:0009057,Human_Phenotype_Ontology:HP:0009063,MedGen:C1836609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Myofibrillar myopathy human_phenotype_ontology_hp_0003715_mondo_mondo_0018943_medgen_c2678065_omim_ps601419_orphanet_593 Human_Phenotype_Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419,Orphanet:593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Muscle fiber inclusion bodies human_phenotype_ontology_hp_0100299_medgen_c4022159 Human_Phenotype_Ontology:HP:0100299,MedGen:C4022159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT MYOT-related disorder myot_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Lower limb pain human_phenotype_ontology_hp_0012514_medgen_c0023222 Human_Phenotype_Ontology:HP:0012514,MedGen:C0023222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Foot dorsiflexor weakness human_phenotype_ontology_hp_0003377_human_phenotype_ontology_hp_0009027_medgen_c1866141 Human_Phenotype_Ontology:HP:0003377,Human_Phenotype_Ontology:HP:0009027,MedGen:C1866141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Fatty replacement of skeletal muscle human_phenotype_ontology_hp_0012548_medgen_c4021082 Human_Phenotype_Ontology:HP:0012548,MedGen:C4021082 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT EMG: myopathic abnormalities human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Distal myopathy mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Distal lower limb muscle weakness human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOT Distal amyotrophy human_phenotype_ontology_hp_0002484_human_phenotype_ontology_hp_0002934_human_phenotype_ontology_hp_0003486_human_phenotype_ontology_hp_0003693_human_phenotype_ontology_hp_0003699_human_phenotype_ontology_hp_0006786_human_phenotype_ontology_hp_0006864_human_phenotype_ontology_hp_0008937_human_phenotype_ontology_hp_0008958_human_phenotype_ontology_hp_0009015_human_phenotype_ontology_hp_0009040_human_phenotype_ontology_hp_0009065_medgen_c1848736 Human_Phenotype_Ontology:HP:0002484,Human_Phenotype_Ontology:HP:0002934,Human_Phenotype_Ontology:HP:0003486,Human_Phenotype_Ontology:HP:0003693,Human_Phenotype_Ontology:HP:0003699,Human_Phenotype_Ontology:HP:0006786,Human_Phenotype_Ontology:HP:0006864,Human_Phenotype_Ontology:HP:0008937,Human_Phenotype_Ontology:HP:0008958,Human_Phenotype_Ontology:HP:0009015,Human_Phenotype_Ontology:HP:0009040,Human_Phenotype_Ontology:HP:0009065,MedGen:C1848736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOF Angioedema, hereditary, 7 mondo_mondo_0025713_medgen_c5543526_omim_619366 MONDO:MONDO:0025713,MedGen:C5543526,OMIM:619366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOD1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOD1 Autosomal dominant centronuclear myopathy mondo_mondo_0008048_mesh_d020914_medgen_c4551952_omim_160150_orphanet_169189 MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOD1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOC Primary open angle glaucoma mondo_mondo_0100553_medgen_c0339573_omim_137760 MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOC GLAUCOMA 1, OPEN ANGLE, A, DIGENIC medgen_c4016750 MedGen:C4016750 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO9B Sensorimotor neuropathy human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO9B Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome mondo_mondo_0016424_medgen_c4304831_orphanet_228012 MONDO:MONDO:0016424,MedGen:C4304831,Orphanet:228012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Junctional epidermolysis bullosa with pyloric atresia mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Essential tremor mondo_mondo_0003233_medgen_c0270736_omim_ps190300 MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5A Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5A Griscelli syndrome type 3 mondo_mondo_0012220_medgen_c1836573_omim_609227_orphanet_381_orphanet_79478 MONDO:MONDO:0012220,MedGen:C1836573,OMIM:609227,Orphanet:381,Orphanet:79478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5A Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5A Cerebellar cortical atrophy human_phenotype_ontology_hp_0008278_medgen_c4024710 Human_Phenotype_Ontology:HP:0008278,MedGen:C4024710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO3A nonsyndromic sensorineural hearing loss mesh_c537845_medgen_c1842137 MeSH:C537845,MedGen:C1842137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO3A Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO1B Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO1A Diarrhea 15, congenital mondo_mondo_0976268_medgen_c6012715_omim_621179 MONDO:MONDO:0976268,MedGen:C6012715,OMIM:621179 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO1A Congenital diarrhea mondo_mondo_0000824_medgen_c6013449_omim_ps214700 MONDO:MONDO:0000824,MedGen:C6013449,OMIM:PS214700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO19 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO18B Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO18B Klippel-Feil syndrome human_phenotype_ontology_hp_0004602_human_phenotype_ontology_hp_0004636_mondo_mondo_0001029_medgen_c0022738_omim_ps118100_orphanet_2345 Human_Phenotype_Ontology:HP:0004602,Human_Phenotype_Ontology:HP:0004636,MONDO:MONDO:0001029,MedGen:C0022738,OMIM:PS118100,Orphanet:2345 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO18B HP:0003549 hp_0003549 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO16 MYO16-associated developmental delay myo16_associated_developmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Childhood onset hearing loss childhood_onset_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Carney complex, type 1 mondo_mondo_0008057_medgen_c2607929_omim_160980_orphanet_1359 MONDO:MONDO:0008057,MedGen:C2607929,OMIM:160980,Orphanet:1359 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Autosomal recessive nonsyndromic hearing loss 9 mondo_mondo_0010986_medgen_c1832828_omim_601071_orphanet_90636 MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO10 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYMK MYMK-related disorder mymk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYLK3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYLK Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 mondo_mondo_0100354_medgen_c5542316_omim_249210 MONDO:MONDO:0100354,MedGen:C5542316,OMIM:249210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYLK Megacystis, microcolon, hypoperistalsis syndrome mondo_mondo_0025986_medgen_c1608393_omim_ps249210_orphanet_2241 MONDO:MONDO:0025986,MedGen:C1608393,OMIM:PS249210,Orphanet:2241 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYLK Isolated thoracic aortic aneurysm isolated_thoracic_aortic_aneurysm . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL9 Visceral myopathy 1 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL5 Retinitis pigmentosa 40 mondo_mondo_0013429_medgen_c3151107_omim_613801_orphanet_791 MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL4 Familial atrial fibrillation mondo_mondo_0018054_medgen_c3468561_omim_ps608583_orphanet_334 MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL3 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL3 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy mondo_mondo_0859168_medgen_c5561937_omim_619424 MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 MYL2-related disorder myl2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Death in early adulthood human_phenotype_ontology_hp_0100613_medgen_c4022012 Human_Phenotype_Ontology:HP:0100613,MedGen:C4022012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Congenital myopathy with fiber type disproportion mondo_mondo_0009711_medgen_c0546264_orphanet_2020 MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL2 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYL1 Congenital myopathy with reduced type 2 muscle fibers mondo_mondo_0034109_medgen_c5193081_omim_618414_orphanet_544602 MONDO:MONDO:0034109,MedGen:C5193081,OMIM:618414,Orphanet:544602 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Numerous pigmented freckles human_phenotype_ontology_hp_0007587_medgen_c1968565 Human_Phenotype_Ontology:HP:0007587,MedGen:C1968565 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 May-Hegglin Disorder may_hegglin_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Increased mean platelet volume human_phenotype_ontology_hp_0011877_medgen_c1096367 Human_Phenotype_Ontology:HP:0011877,MedGen:C1096367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Epistaxis human_phenotype_ontology_hp_0000421_medgen_c0014591 Human_Phenotype_Ontology:HP:0000421,MedGen:C0014591 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Abnormal platelet shape human_phenotype_ontology_hp_0012524_medgen_c4022866 Human_Phenotype_Ontology:HP:0012524,MedGen:C4022866 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Abnormal platelet morphology human_phenotype_ontology_hp_0011875_medgen_c0855742 Human_Phenotype_Ontology:HP:0011875,MedGen:C0855742 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Abnormal platelet function human_phenotype_ontology_hp_0011869_medgen_c0855740 Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH8 Carney complex - trismus - pseudocamptodactyly syndrome mondo_mondo_0012137_medgen_c1837245_omim_608837_orphanet_319340 MONDO:MONDO:0012137,MedGen:C1837245,OMIM:608837,Orphanet:319340 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7B Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7B Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7B Dilated cardiomyopathy with left ventricular noncompaction mesh_c565277_medgen_c1853863 MeSH:C565277,MedGen:C1853863 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) mondo_mondo_0016195_medgen_c5680832_orphanet_209185 MONDO:MONDO:0016195,MedGen:C5680832,Orphanet:209185 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Myocarditis human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 MYH7-related cardiomyopathy myh7_related_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Congenital muscular dystrophy human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Chest pain human_phenotype_ontology_hp_0100749_medgen_c0008031 Human_Phenotype_Ontology:HP:0100749,MedGen:C0008031 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Biventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0012818_medgen_c4022713 Human_Phenotype_Ontology:HP:0012818,MedGen:C4022713 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Asymmetric septal hypertrophy human_phenotype_ontology_hp_0001670_medgen_c0205700 Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Hypoplastic left heart syndrome human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH6 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH3 Spondylocarpotarsal fusion syndrome 1A spondylocarpotarsal_fusion_syndrome_1a . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH2 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome mondo_mondo_0019195_medgen_c4510610_orphanet_79091 MONDO:MONDO:0019195,MedGen:C4510610,Orphanet:79091 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH2 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia mondo_mondo_0018206_medgen_c5192594_orphanet_363677 MONDO:MONDO:0018206,MedGen:C5192594,Orphanet:363677 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH15 Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome mondo_mondo_0014335_medgen_c4014239_omim_615760_orphanet_404437 MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH14 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome mondo_mondo_0013711_medgen_c3280556_omim_614369_orphanet_397744 MONDO:MONDO:0013711,MedGen:C3280556,OMIM:614369,Orphanet:397744 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH14 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Visceral myopathy 2 mondo_mondo_0859157_medgen_c5543466_omim_619350 MONDO:MONDO:0859157,MedGen:C5543466,OMIM:619350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Visceral myopathy 1 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Tricuspid regurgitation human_phenotype_ontology_hp_0004753_human_phenotype_ontology_hp_0005180_mondo_mondo_0002870_medgen_c0040961 Human_Phenotype_Ontology:HP:0004753,Human_Phenotype_Ontology:HP:0005180,MONDO:MONDO:0002870,MedGen:C0040961 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Mitral regurgitation human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Megacystis, microcolon, hypoperistalsis syndrome mondo_mondo_0025986_medgen_c1608393_omim_ps249210_orphanet_2241 MONDO:MONDO:0025986,MedGen:C1608393,OMIM:PS249210,Orphanet:2241 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Aortic root aneurysm human_phenotype_ontology_hp_0002616_human_phenotype_ontology_hp_0002631_human_phenotype_ontology_hp_0004750_human_phenotype_ontology_hp_0005125_medgen_c1298820 Human_Phenotype_Ontology:HP:0002616,Human_Phenotype_Ontology:HP:0002631,Human_Phenotype_Ontology:HP:0004750,Human_Phenotype_Ontology:HP:0005125,MedGen:C1298820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Abnormal left ventricle morphology human_phenotype_ontology_hp_0001711_medgen_c0344905 Human_Phenotype_Ontology:HP:0001711,MedGen:C0344905 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Wide nose human_phenotype_ontology_hp_0000438_human_phenotype_ontology_hp_0000445_medgen_c0426421 Human_Phenotype_Ontology:HP:0000438,Human_Phenotype_Ontology:HP:0000445,MedGen:C0426421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Midface retrusion human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 MYH10-related neurodevelopmental disorder with congenital anomalies mondo_mondo_0700281_medgen_cn378591 MONDO:MONDO:0700281,MedGen:CN378591 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Epicanthus inversus human_phenotype_ontology_hp_0000537_medgen_c1303003 Human_Phenotype_Ontology:HP:0000537,MedGen:C1303003 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Congenital ptosis human_phenotype_ontology_hp_0007970_medgen_c0266573 Human_Phenotype_Ontology:HP:0007970,MedGen:C0266573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Complex neurodevelopmental disorders complex_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH10 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYF6 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYEF2 Skin/hair/eye pigmentation, variation in, 4 medgen_c2676042 MedGen:C2676042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYEF2 SLC24A5-related disorder slc24a5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYEF2 Oculocutaneous albinism mondo_mondo_0018910_medgen_c0078918_omim_ps203100_orphanet_55 MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYEF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYD88 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYCBP2 MYCBP2-associated neurodevelopmental disorder mycbp2_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYC condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 hypertrophic cardiomyopathie hypertrophic_cardiomyopathie . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Tachycardia human_phenotype_ontology_hp_0001649_human_phenotype_ontology_hp_0001720_medgen_c0039231 Human_Phenotype_Ontology:HP:0001649,Human_Phenotype_Ontology:HP:0001720,MedGen:C0039231 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Premature ventricular contraction human_phenotype_ontology_hp_0006678_human_phenotype_ontology_hp_0006682_medgen_c0151636 Human_Phenotype_Ontology:HP:0006678,Human_Phenotype_Ontology:HP:0006682,MedGen:C0151636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Noncompaction cardiomyopathy human_phenotype_ontology_hp_0012817_medgen_c1839832 Human_Phenotype_Ontology:HP:0012817,MedGen:C1839832 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Left ventricular hypertrophy human_phenotype_ontology_hp_0001712_human_phenotype_ontology_hp_0005171_medgen_c0149721 Human_Phenotype_Ontology:HP:0001712,Human_Phenotype_Ontology:HP:0005171,MedGen:C0149721 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Isolated Noncompaction of the Ventricular Myocardium mesh_d056830_medgen_c2717907 MeSH:D056830,MedGen:C2717907 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Heart block human_phenotype_ontology_hp_0012722_medgen_c0018794 Human_Phenotype_Ontology:HP:0012722,MedGen:C0018794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Dyspnea human_phenotype_ontology_hp_0002094_medgen_c0013404 Human_Phenotype_Ontology:HP:0002094,MedGen:C0013404 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Dilated cardiomyopathy 1I mondo_mondo_0011482_medgen_c1858154_omim_604765_orphanet_154 MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765,Orphanet:154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC1 Distal arthrogryposis human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MXRA8 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MXI1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MXI1 Neurofibrosarcoma human_phenotype_ontology_hp_0100697_mondo_mondo_0002675_medgen_c0206729 Human_Phenotype_Ontology:HP:0100697,MONDO:MONDO:0002675,MedGen:C0206729 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK autosomal recessive MVK-related disorders autosomal_recessive_mvk_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Methylmalonic acidemia human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVD Linear porokeratosis mondo_mondo_0023246_mesh_d017499_medgen_c0302319 MONDO:MONDO:0023246,MeSH:D017499,MedGen:C0302319 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Small intestine carcinoid human_phenotype_ontology_hp_0006722_medgen_c1868072 Human_Phenotype_Ontology:HP:0006722,MedGen:C1868072 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Pleomorphic xanthoastrocytoma BRAF mutant mondo_mondo_0956983_medgen_cn377565 MONDO:MONDO:0956983,MedGen:CN377565 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Ovarian carcinoma human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Infant-type hemispheric glioma mondo_mondo_0858940_medgen_c5669919_orphanet_695136 MONDO:MONDO:0858940,MedGen:C5669919,Orphanet:695136 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Hereditary spastic paraplegia 7 mondo_mondo_0011803_medgen_c1846564_omim_607259_orphanet_99013 MONDO:MONDO:0011803,MedGen:C1846564,OMIM:607259,Orphanet:99013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Familial colorectal cancer type X mondo_mondo_0018604_medgen_c3896578_orphanet_440437 MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Ependymoma human_phenotype_ontology_hp_0002888_mondo_mondo_0016698_mesh_d004806_medgen_c0014474_orphanet_251636 Human_Phenotype_Ontology:HP:0002888,MONDO:MONDO:0016698,MeSH:D004806,MedGen:C0014474,Orphanet:251636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Endometrial cancer mondo_mondo_0011962_medgen_c0007103 MONDO:MONDO:0011962,MedGen:C0007103 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Dysembryoplastic neuroepithelial tumor human_phenotype_ontology_hp_0033703_mondo_mondo_0005505_medgen_c1266177_orphanet_251946 Human_Phenotype_Ontology:HP:0033703,MONDO:MONDO:0005505,MedGen:C1266177,Orphanet:251946 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Colorectal polyposis human_phenotype_ontology_hp_0200063_mondo_mondo_0021392_medgen_c0949059 Human_Phenotype_Ontology:HP:0200063,MONDO:MONDO:0021392,MedGen:C0949059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas colorectal_adenomatous_polyposis_autosomal_recessive_with_pilomatricomas MedGen:CN068899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH Colonic neoplasm human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUTYH B lymphoblastic leukemia lymphoma, no ICD-O subtype medgen_c3472624 MedGen:C3472624 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK Stridor human_phenotype_ontology_hp_0010307_medgen_c0038450 Human_Phenotype_Ontology:HP:0010307,MedGen:C0038450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK Respiratory insufficiency human_phenotype_ontology_hp_0002093_human_phenotype_ontology_hp_0004893_human_phenotype_ontology_hp_0005937_human_phenotype_ontology_hp_0006542_medgen_c0035229 Human_Phenotype_Ontology:HP:0002093,Human_Phenotype_Ontology:HP:0004893,Human_Phenotype_Ontology:HP:0005937,Human_Phenotype_Ontology:HP:0006542,MedGen:C0035229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK MUSK-related disorder musk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK Congenital myasthenic syndrome 4C mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK Bilateral ptosis human_phenotype_ontology_hp_0001488_medgen_c1865916 Human_Phenotype_Ontology:HP:0001488,MedGen:C1865916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK Autosomal recessive MUSK-related disorders autosomal_recessive_musk_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUS81 Cutis laxa, autosomal recessive, type 1A mondo_mondo_0009052_medgen_c5848058_omim_219100_orphanet_90349 MONDO:MONDO:0009052,MedGen:C5848058,OMIM:219100,Orphanet:90349 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUS81 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUC5B Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Progeroid facial appearance human_phenotype_ontology_hp_0000335_human_phenotype_ontology_hp_0005328_human_phenotype_ontology_hp_0005333_medgen_c1857710 Human_Phenotype_Ontology:HP:0000335,Human_Phenotype_Ontology:HP:0005328,Human_Phenotype_Ontology:HP:0005333,MedGen:C1857710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Postnatal growth retardation human_phenotype_ontology_hp_0008844_human_phenotype_ontology_hp_0008865_human_phenotype_ontology_hp_0008868_human_phenotype_ontology_hp_0008897_human_phenotype_ontology_hp_0008901_human_phenotype_ontology_hp_0008918_medgen_c1859778 Human_Phenotype_Ontology:HP:0008844,Human_Phenotype_Ontology:HP:0008865,Human_Phenotype_Ontology:HP:0008868,Human_Phenotype_Ontology:HP:0008897,Human_Phenotype_Ontology:HP:0008901,Human_Phenotype_Ontology:HP:0008918,MedGen:C1859778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Facial shape deformation human_phenotype_ontology_hp_0011334_medgen_c4021159 Human_Phenotype_Ontology:HP:0011334,MedGen:C4021159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Dental crowding human_phenotype_ontology_hp_0000678_medgen_c0040433 Human_Phenotype_Ontology:HP:0000678,MedGen:C0040433 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Acroosteolysis of distal phalanges (feet) human_phenotype_ontology_hp_0001870_medgen_c4025739 Human_Phenotype_Ontology:HP:0001870,MedGen:C4025739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Abnormality of skin pigmentation human_phenotype_ontology_hp_0001000_human_phenotype_ontology_hp_0007582_human_phenotype_ontology_hp_0200045_medgen_c1260926 Human_Phenotype_Ontology:HP:0001000,Human_Phenotype_Ontology:HP:0007582,Human_Phenotype_Ontology:HP:0200045,MedGen:C1260926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Abnormality of body height human_phenotype_ontology_hp_0000002_medgen_c4025901 Human_Phenotype_Ontology:HP:0000002,MedGen:C4025901 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTX2 Abnormal mandible morphology human_phenotype_ontology_hp_0000209_human_phenotype_ontology_hp_0000277_medgen_c4025870 Human_Phenotype_Ontology:HP:0000209,Human_Phenotype_Ontology:HP:0000277,MedGen:C4025870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTTP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 MTSS2-related neurodevelopmental disorder mtss2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 Iron deposition in globus pallidus medgen_c5678431 MedGen:C5678431 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 Intellectual developmental disorder with ocular anomalies and distinctive facial features mondo_mondo_0859303_medgen_c5774238_omim_620086 MONDO:MONDO:0859303,MedGen:C5774238,OMIM:620086 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTSS2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRR Homocystinuria without methylmalonic aciduria mondo_mondo_0018964_medgen_c4303479_omim_ps236270_orphanet_622 MONDO:MONDO:0018964,MedGen:C4303479,OMIM:PS236270,Orphanet:622 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR MTRFR-related disorder mtrfr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR Hereditary motor and sensory neuropathy with optic atrophy mondo_mondo_0019551_medgen_c0393807_orphanet_90120 MONDO:MONDO:0019551,MedGen:C0393807,Orphanet:90120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRFR Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Profound intellectual disability human_phenotype_ontology_hp_0002187_medgen_c3161330 Human_Phenotype_Ontology:HP:0002187,MedGen:C3161330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Disorders of Intracellular Cobalamin Metabolism disorders_of_intracellular_cobalamin_metabolism MedGen:CN043592 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTPAP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTPAP Spastic ataxia 4 mondo_mondo_0013354_medgen_c3150925_omim_613672_orphanet_254343 MONDO:MONDO:0013354,MedGen:C3150925,OMIM:613672,Orphanet:254343 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTPAP Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Overgrowth syndrome mondo_mondo_0019716_medgen_c2986703_orphanet_93460 MONDO:MONDO:0019716,MedGen:C2986703,Orphanet:93460 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR MTOR-related megalencephaly and pigmentary mosaicism in skin mtor_related_megalencephaly_and_pigmentary_mosaicism_in_skin . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Hemimegalencephaly human_phenotype_ontology_hp_0007206_mondo_mondo_0020492_medgen_c0431391_orphanet_99802 Human_Phenotype_Ontology:HP:0007206,MONDO:MONDO:0020492,MedGen:C0431391,Orphanet:99802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTO1 Mitochondrial oxidative phosphorylation disorder mondo_mondo_0016387_medgen_c5679825_orphanet_223713 MONDO:MONDO:0016387,MedGen:C5679825,Orphanet:223713 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTO1 MTO1-related disorder mto1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTO1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTO1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 Qualitative or quantitative defects of myotubularin medgen_c5680828_orphanet_207110 MedGen:C5680828,Orphanet:207110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 Congenital myopathy with fiber type disproportion mondo_mondo_0009711_medgen_c0546264_orphanet_2020 MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Secondary microcephaly human_phenotype_ontology_hp_0000241_human_phenotype_ontology_hp_0000259_human_phenotype_ontology_hp_0005484_human_phenotype_ontology_hp_0005499_medgen_c0431352 Human_Phenotype_Ontology:HP:0000241,Human_Phenotype_Ontology:HP:0000259,Human_Phenotype_Ontology:HP:0005484,Human_Phenotype_Ontology:HP:0005499,MedGen:C0431352 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Neural tube defect human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR MTHFR-related disorder mthfr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Infantile spasms human_phenotype_ontology_hp_0012469_medgen_c3887898 Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Generalized cerebral atrophy/hypoplasia human_phenotype_ontology_hp_0007058_medgen_c4024945 Human_Phenotype_Ontology:HP:0007058,MedGen:C4024945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Bilateral tonic-clonic seizure human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFD1 MTHFD1-related disorder mthfd1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Waardenburg syndrome, IIa 2F mondo_mondo_0030983_medgen_c5677013_omim_619947 MONDO:MONDO:0030983,MedGen:C5677013,OMIM:619947 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Poor speech human_phenotype_ontology_hp_0002465_medgen_c1848207 Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Mitochondrial oxidative phosphorylation disorder mondo_mondo_0016387_medgen_c5679825_orphanet_223713 MONDO:MONDO:0016387,MedGen:C5679825,Orphanet:223713 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Inability to walk by childhood/adolescence human_phenotype_ontology_hp_0006915_medgen_c1859200 Human_Phenotype_Ontology:HP:0006915,MedGen:C1859200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Decreased activity of mitochondrial complex I human_phenotype_ontology_hp_0011923_medgen_c2677650 Human_Phenotype_Ontology:HP:0011923,MedGen:C2677650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Cytochrome C oxidase-negative muscle fibers human_phenotype_ontology_hp_0003688_human_phenotype_ontology_hp_0003734_human_phenotype_ontology_hp_0009006_medgen_c4021724 Human_Phenotype_Ontology:HP:0003688,Human_Phenotype_Ontology:HP:0003734,Human_Phenotype_Ontology:HP:0009006,MedGen:C4021724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTFMT Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTCL1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTA3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX1 Oligodontia human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSTO1 Possible mitochondrial disorder - nuclear genes possible_mitochondrial_disorder_nuclear_genes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSTO1 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSTO1 Inborn mitochondrial myopathy human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSTN Myostatin-related muscle hypertrophy mondo_mondo_0013598_medgen_c2931112_omim_614160_orphanet_275534 MONDO:MONDO:0013598,MedGen:C2931112,OMIM:614160,Orphanet:275534 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MST1R Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSRB3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSRB3 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSRB3 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSRB3 Hearing loss medgen_c3887873 MedGen:C3887873 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSR1 Carcinoma of esophagus human_phenotype_ontology_hp_0011459_mondo_mondo_0019086_medgen_c0152018_orphanet_70482 Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSR1 BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA medgen_c3277074 MedGen:C3277074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSMO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL3 X-linked neurodevelopmental delay, dysmorphism, and progressive neurological disorder x_linked_neurodevelopmental_delay_dysmorphism_and_progressive_neurological_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL3 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL2 Syndromic neurodevelopmental disorder syndromic_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL2 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Ovarian carcinoma human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Lynch syndrome 4 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Gaucher disease type I mondo_mondo_0009265_medgen_c1961835_omim_230800_orphanet_355_orphanet_77259 MONDO:MONDO:0009265,MedGen:C1961835,OMIM:230800,Orphanet:355,Orphanet:77259 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Familial colorectal cancer mondo_mondo_0023113_medgen_cn280943 MONDO:MONDO:0023113,MedGen:CN280943 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Endometrial cancer mondo_mondo_0011962_medgen_c0007103 MONDO:MONDO:0011962,MedGen:C0007103 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Colon adenocarcinoma human_phenotype_ontology_hp_0040276_mondo_mondo_0002271_medgen_c0338106 Human_Phenotype_Ontology:HP:0040276,MONDO:MONDO:0002271,MedGen:C0338106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Cerebellar medulloblastoma human_phenotype_ontology_hp_0007129_medgen_c4024934 Human_Phenotype_Ontology:HP:0007129,MedGen:C4024934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH6 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH5 Premature ovarian failure 13 mondo_mondo_0044317_medgen_c4479510_omim_617442 MONDO:MONDO:0044317,MedGen:C4479510,OMIM:617442 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH5 MSH5-related disorder msh5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH5 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH5 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH4 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH4 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Sigmoid colon cancer mondo_mondo_0001464_medgen_c0153436 MONDO:MONDO:0001464,MedGen:C0153436 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Ovarian cyst human_phenotype_ontology_hp_0000138_human_phenotype_ontology_hp_0000146_mondo_mondo_0003282_medgen_c0029927 Human_Phenotype_Ontology:HP:0000138,Human_Phenotype_Ontology:HP:0000146,MONDO:MONDO:0003282,MedGen:C0029927 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Malignant tumor of ascending colon mondo_mondo_0002238_medgen_c0153439 MONDO:MONDO:0002238,MedGen:C0153439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Lynch syndrome 4 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Hereditary nonpolyposis colorectal carcinoma human_phenotype_ontology_hp_0006716_medgen_c4024989 Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Glioblastoma mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSH2 Colonic diverticula human_phenotype_ontology_hp_0002253_human_phenotype_ontology_hp_0005860_medgen_c0012819 Human_Phenotype_Ontology:HP:0002253,Human_Phenotype_Ontology:HP:0005860,MedGen:C0012819 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRTFA Immunodeficiency 66 mondo_mondo_0030013_medgen_c5394265_omim_618847 MONDO:MONDO:0030013,MedGen:C5394265,OMIM:618847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS7 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS7 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS34 MRPS34-related disorder mrps34_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS34 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS28 Combined oxidative phosphorylation deficiency 47 mondo_mondo_0033537_medgen_c5436476_omim_618958 MONDO:MONDO:0033537,MedGen:C5436476,OMIM:618958 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS25 Combined oxidative phosphorylation deficiency 50 mondo_mondo_0033570_medgen_c5436623_omim_619025 MONDO:MONDO:0033570,MedGen:C5436623,OMIM:619025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS23 Combined oxidative phosphorylation deficiency 46 mondo_mondo_0033534_medgen_c5436466_omim_618952 MONDO:MONDO:0033534,MedGen:C5436466,OMIM:618952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS22 Ovarian dysgenesis 7 mondo_mondo_0020857_medgen_c4748263_omim_618117 MONDO:MONDO:0020857,MedGen:C4748263,OMIM:618117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS22 46 XX gonadal dysgenesis mondo_mondo_0009299_mesh_d023961_medgen_c0685837_omim_ps233300_orphanet_243 MONDO:MONDO:0009299,MeSH:D023961,MedGen:C0685837,OMIM:PS233300,Orphanet:243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS16 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS14 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPS14 Combined oxidative phosphorylation deficiency 38 mondo_mondo_0032712_medgen_c5193064_omim_618378 MONDO:MONDO:0032712,MedGen:C5193064,OMIM:618378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL50 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL49 Combined oxidative phosphorylation defect type 2 mondo_mondo_0012510_medgen_c1864843_omim_610498_orphanet_254920 MONDO:MONDO:0012510,MedGen:C1864843,OMIM:610498,Orphanet:254920 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL44 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 mondo_mondo_0012191_medgen_c1836797_omim_609060_orphanet_137681 MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060,Orphanet:137681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL42 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL3 Neonatal encephalopathy medgen_c0235820 MedGen:C0235820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRPL12 Combined oxidative phosphorylation deficiency 45 mondo_mondo_0033533_medgen_c5436461_omim_618951 MONDO:MONDO:0033533,MedGen:C5436461,OMIM:618951 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 Renal transitional cell carcinoma human_phenotype_ontology_hp_0030409_medgen_c1319314 Human_Phenotype_Ontology:HP:0030409,MedGen:C1319314 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 MRE11-related disorder mre11_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 Colonic neoplasm human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRAS Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRAP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRAP MRAP-related disorder mrap_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZL2 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZL2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Tremor human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Sensory neuropathy human_phenotype_ontology_hp_0000763_human_phenotype_ontology_hp_0003410_human_phenotype_ontology_hp_0006815_human_phenotype_ontology_hp_0007043_human_phenotype_ontology_hp_0007142_mondo_mondo_0002321_medgen_c0151313 Human_Phenotype_Ontology:HP:0000763,Human_Phenotype_Ontology:HP:0003410,Human_Phenotype_Ontology:HP:0006815,Human_Phenotype_Ontology:HP:0007043,Human_Phenotype_Ontology:HP:0007142,MONDO:MONDO:0002321,MedGen:C0151313 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Sensorimotor neuropathy human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Pes cavus human_phenotype_ontology_hp_0001761_medgen_c0728829 Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Motor neuron disease mondo_mondo_0020128_medgen_c0085084_orphanet_98503 MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Limb muscle weakness human_phenotype_ontology_hp_0002534_human_phenotype_ontology_hp_0003690_medgen_c0587246 Human_Phenotype_Ontology:HP:0002534,Human_Phenotype_Ontology:HP:0003690,MedGen:C0587246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Hereditary neuropathy or pain disorder hereditary_neuropathy_or_pain_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ EMG: neuropathic changes human_phenotype_ontology_hp_0002178_human_phenotype_ontology_hp_0002547_human_phenotype_ontology_hp_0003445_human_phenotype_ontology_hp_0007279_medgen_c4021727 Human_Phenotype_Ontology:HP:0002178,Human_Phenotype_Ontology:HP:0002547,Human_Phenotype_Ontology:HP:0003445,Human_Phenotype_Ontology:HP:0007279,MedGen:C4021727 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Distal lower limb amyotrophy human_phenotype_ontology_hp_0003442_human_phenotype_ontology_hp_0003714_human_phenotype_ontology_hp_0006975_human_phenotype_ontology_hp_0008944_human_phenotype_ontology_hp_0008949_human_phenotype_ontology_hp_0009001_medgen_c1836451 Human_Phenotype_Ontology:HP:0003442,Human_Phenotype_Ontology:HP:0003714,Human_Phenotype_Ontology:HP:0006975,Human_Phenotype_Ontology:HP:0008944,Human_Phenotype_Ontology:HP:0008949,Human_Phenotype_Ontology:HP:0009001,MedGen:C1836451 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Distal hereditary motor neuropathy type 2 mondo_mondo_0015352_mesh_c580044_medgen_c3711384_orphanet_139525 MONDO:MONDO:0015352,MeSH:C580044,MedGen:C3711384,Orphanet:139525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Decreased nerve conduction velocity human_phenotype_ontology_hp_0000761_human_phenotype_ontology_hp_0000762_human_phenotype_ontology_hp_0007118_human_phenotype_ontology_hp_0007218_human_phenotype_ontology_hp_0007231_medgen_c1857640 Human_Phenotype_Ontology:HP:0000761,Human_Phenotype_Ontology:HP:0000762,Human_Phenotype_Ontology:HP:0007118,Human_Phenotype_Ontology:HP:0007218,Human_Phenotype_Ontology:HP:0007231,MedGen:C1857640 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Charcot-Marie-Tooth disease dominant intermediate B mondo_mondo_0011674_medgen_c1847902_omim_606482_orphanet_100044_orphanet_228179 MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Autosomal recessive Dejerine-Sottas syndrome autosomal_recessive_dejerine_sottas_syndrome MedGen:CN069172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 Mitochondrial DNA maintenance disorder mitochondrial_dna_maintenance_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 MPV17-related mitochondrial DNA maintenance defect mpv17_related_mitochondrial_dna_maintenance_defect . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPP4 Wide nasal bridge human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPP4 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPP4 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPP4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPP4 High palate human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPP4 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPP4 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPLKIP Trichothiodystrophy 1, photosensitive mondo_mondo_0011125_medgen_c1866504_omim_601675_orphanet_33364 MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Myelofibrosis with myeloid metaplasia mondo_mondo_0800305_medgen_cn077888 MONDO:MONDO:0800305,MedGen:CN077888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Long QT syndrome 2 mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPEG1 Primary ciliary dyskinesia 3 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPEG1 Immunodeficiency 77 mondo_mondo_0030973_medgen_c5543173_omim_619223 MONDO:MONDO:0030973,MedGen:C5543173,OMIM:619223 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOV10L1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOV10L1 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 MORC2-related neurodevelopmental disorders morc2_related_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 MORC2-related developmental disorder morc2_related_developmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MON1A Congenital diarrhea mondo_mondo_0000824_medgen_c6013449_omim_ps214700 MONDO:MONDO:0000824,MedGen:C6013449,OMIM:PS214700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOGS MOGS-related disorder mogs_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOG Narcolepsy 7 mondo_mondo_0013652_medgen_c3280266_omim_614250_orphanet_2073 MONDO:MONDO:0013652,MedGen:C3280266,OMIM:614250,Orphanet:2073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS2 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A mondo_mondo_0009643_medgen_c1854988_omim_252150_orphanet_308386_orphanet_833 MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS2 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCOS Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNX1 Abnormality of the vertebral column human_phenotype_ontology_hp_0000925_medgen_c4021789 Human_Phenotype_Ontology:HP:0000925,MedGen:C4021789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNS1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MNS1 Situs inversus human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT Neonatal encephalopathy medgen_c0235820 MedGen:C0235820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP21 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP20 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP20 MMP20-related disorder mmp20_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP20 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP2 MMP2-related disorder mmp2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP19 Familial cavitary optic disk anomaly mondo_mondo_0012687_medgen_c1969063_omim_611543_orphanet_464760 MONDO:MONDO:0012687,MedGen:C1969063,OMIM:611543,Orphanet:464760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP15 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMP13 MMP13-related disorder mmp13_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME MME-related distal hereditary motor neuropathies mme_related_distal_hereditary_motor_neuropathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME Distal myopathy mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization mondo_mondo_0019068_medgen_c4511239_orphanet_69063 MONDO:MONDO:0019068,MedGen:C4511239,Orphanet:69063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME Charcot-Marie-Tooth disease type 2T mondo_mondo_0044640_medgen_cn294759_orphanet_495274 MONDO:MONDO:0044640,MedGen:CN294759,Orphanet:495274 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC cblC type of combined methylmalonic aciduria and homocystinuria cblc_type_of_combined_methylmalonic_aciduria_and_homocystinuria . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Methylmalonic aciduria and homocystinuria type cblD mondo_mondo_0010185_medgen_c1848552_omim_277410_orphanet_622_orphanet_79283 MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Methylmalonic aciduria and homocystinuria mondo_mondo_0016826_medgen_c5848324_omim_ps277400_orphanet_26 MONDO:MONDO:0016826,MedGen:C5848324,OMIM:PS277400,Orphanet:26 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Methylmalonic aciduria human_phenotype_ontology_hp_0012120_medgen_c1855119 Human_Phenotype_Ontology:HP:0012120,MedGen:C1855119 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Homocystinuria human_phenotype_ontology_hp_0002156_mondo_mondo_0004737_medgen_c0019880 Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAB Methylmalonic aciduria human_phenotype_ontology_hp_0012120_medgen_c1855119 Human_Phenotype_Ontology:HP:0012120,MedGen:C1855119 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAA Methylmalonic aciduria of the cblA complementation type methylmalonic_aciduria_of_the_cbla_complementation_type . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLYCD MLYCD-related disorder mlycd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLYCD Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLLT1 Short nose human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLLT1 Infantile spasms human_phenotype_ontology_hp_0012469_medgen_c3887898 Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLLT1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLLT1 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLLT1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLLT1 Cerebral atrophy human_phenotype_ontology_hp_0002059_human_phenotype_ontology_hp_0002422_human_phenotype_ontology_hp_0006890_medgen_c0235946 Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLLT1 Abnormal cortical gyration human_phenotype_ontology_hp_0002536_human_phenotype_ontology_hp_0006900_medgen_c1856019 Human_Phenotype_Ontology:HP:0002536,Human_Phenotype_Ontology:HP:0006900,MedGen:C1856019 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLIP Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 mondo_mondo_0859322_medgen_c5774260_omim_620138 MONDO:MONDO:0859322,MedGen:C5774260,OMIM:620138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLIP MLIP-related disorder mlip_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLIP Intellectual developmental disorder, autosomal dominant 64 mondo_mondo_0030934_medgen_c5543067_omim_619188 MONDO:MONDO:0030934,MedGen:C5543067,OMIM:619188 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH3 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Hereditary nonpolyposis colorectal carcinoma human_phenotype_ontology_hp_0006716_medgen_c4024989 Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Familial colorectal cancer mondo_mondo_0023113_medgen_cn280943 MONDO:MONDO:0023113,MedGen:CN280943 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLH1 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLC1 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLC1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLC1 CNS demyelination human_phenotype_ontology_hp_0007222_human_phenotype_ontology_hp_0007305_medgen_c0338474 Human_Phenotype_Ontology:HP:0007222,Human_Phenotype_Ontology:HP:0007305,MedGen:C0338474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Rotary nystagmus human_phenotype_ontology_hp_0001583_medgen_c0240595 Human_Phenotype_Ontology:HP:0001583,MedGen:C0240595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Limb undergrowth human_phenotype_ontology_hp_0003058_human_phenotype_ontology_hp_0005049_human_phenotype_ontology_hp_0005057_human_phenotype_ontology_hp_0009826_medgen_c0239399 Human_Phenotype_Ontology:HP:0003058,Human_Phenotype_Ontology:HP:0005049,Human_Phenotype_Ontology:HP:0005057,Human_Phenotype_Ontology:HP:0009826,MedGen:C0239399 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKRN3 Prader-Willi syndrome mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKRN3 MKRN3-related disorder mkrn3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Syndromic inherited retinal disease syndromic_inherited_retinal_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Progressive cone dystrophy (without rod involvement) medgen_c0271092 MedGen:C0271092 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Multicystic kidney dysplasia human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS MKKS-related ciliopathy mondo_mondo_1040050_medgen_cn378636 MONDO:MONDO:1040050,MedGen:CN378636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Waardenburg syndrome type 1 mondo_mondo_0008670_medgen_c1847800_omim_193500_orphanet_894 MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Prelingual sensorineural hearing impairment human_phenotype_ontology_hp_0000399_human_phenotype_ontology_hp_0001731_medgen_c4021806 Human_Phenotype_Ontology:HP:0000399,Human_Phenotype_Ontology:HP:0001731,MedGen:C4021806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Poliosis human_phenotype_ontology_hp_0002290_medgen_c0221262 Human_Phenotype_Ontology:HP:0002290,MedGen:C0221262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Heterochromia iridis human_phenotype_ontology_hp_0001100_mondo_mondo_0007722_medgen_c0423318_omim_142500 Human_Phenotype_Ontology:HP:0001100,MONDO:MONDO:0007722,MedGen:C0423318,OMIM:142500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Familial melanoma mondo_mondo_0018961_medgen_c1512419_orphanet_618 MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Congenital sensorineural hearing impairment human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIPEP MIPEP-related disorder mipep_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIPEP Left ventricular noncompaction human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIPEP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIPEP Floppy infant human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIPEP Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIP Persistent hyperplastic primary vitreous human_phenotype_ontology_hp_0007968_mondo_mondo_0019631_medgen_c0266568_omim_ps221900_orphanet_91495 Human_Phenotype_Ontology:HP:0007968,MONDO:MONDO:0019631,MedGen:C0266568,OMIM:PS221900,Orphanet:91495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINPP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINPP1 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINPP1 MINPP1-related disorder minpp1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINK1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINK1 Congenital myasthenic syndrome 4C mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINK1 Congenital myasthenic syndrome 4B mondo_mondo_0014586_medgen_c4225369_omim_616324_orphanet_590 MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINK1 Congenital myasthenic syndrome 4A mondo_mondo_0011600_medgen_c4225413_omim_605809_orphanet_590 MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINK1 Congenital myasthenic syndrome 1A mondo_mondo_0011088_medgen_c2931107_omim_601462 MONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MINK1 Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MILR1 Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) mondo_mondo_0030326_medgen_c5543632_omim_619425 MONDO:MONDO:0030326,MedGen:C5543632,OMIM:619425 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MILR1 Mitochondrial DNA depletion syndrome 16 (hepatic type) mondo_mondo_0032799_medgen_c5193142_omim_618528 MONDO:MONDO:0032799,MedGen:C5193142,OMIM:618528 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIEF2 Combined oxidative phosphorylation deficiency 49 mondo_mondo_0033569_medgen_c5436616_omim_619024 MONDO:MONDO:0033569,MedGen:C5436616,OMIM:619024 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MID1 Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICU1 MICU1-related disorder micu1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICU1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICOS13 Intellectual developmental disorder with autism and macrocephaly mondo_mondo_0014017_medgen_c3554373_omim_615032_orphanet_642675 MONDO:MONDO:0014017,MedGen:C3554373,OMIM:615032,Orphanet:642675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICOS13 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MICALL2 Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIB1 MIB1-related disorder mib1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIB1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIA3 Odontochondrodysplasia2 with hearing loss and diabetes odontochondrodysplasia2_with_hearing_loss_and_diabetes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIA3 Odontochondrodysplasia 2 with hearing loss and diabetes mondo_mondo_0031010_medgen_c5543275_omim_619269 MONDO:MONDO:0031010,MedGen:C5543275,OMIM:619269 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MIA3 ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES odontochondrodysplasia_with_hearing_loss_and_diabetes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGAT2 MGAT2-related disorder mgat2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGAT2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGAT2 Abnormal glycosylation human_phenotype_ontology_hp_0012345_medgen_c4022946 Human_Phenotype_Ontology:HP:0012345,MedGen:C4022946 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGAT2 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MGA Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Severe early-childhood-onset retinal dystrophy mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Microcephaly 5, primary, autosomal recessive mondo_mondo_0012106_medgen_c1837501_omim_608716_orphanet_2512 MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Hyperammonemia human_phenotype_ontology_hp_0001987_human_phenotype_ontology_hp_0008308_human_phenotype_ontology_hp_0008334_medgen_c5574662 Human_Phenotype_Ontology:HP:0001987,Human_Phenotype_Ontology:HP:0008308,Human_Phenotype_Ontology:HP:0008334,MedGen:C5574662 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Functional abnormality of male internal genitalia human_phenotype_ontology_hp_0000025_medgen_c4025898 Human_Phenotype_Ontology:HP:0000025,MedGen:C4025898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Febrile seizure (within the age range of 3 months to 6 years) human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD2A Cryptorchidism human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD11 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD11 Atypical chronic myeloid leukemia, BCR-ABL1 negative mondo_mondo_0004653_medgen_c1292772_orphanet_98824 MONDO:MONDO:0004653,MedGen:C1292772,Orphanet:98824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD11 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD11 Acute megakaryoblastic leukemia in down syndrome mondo_mondo_0020526_medgen_c5925108_orphanet_99887 MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFRP Nanophthalmia mondo_mondo_0005514_medgen_c4274282_omim_ps600165_orphanet_35612 MONDO:MONDO:0005514,MedGen:C4274282,OMIM:PS600165,Orphanet:35612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFRP MFRP-related disorder mfrp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Severe early-onset axonal neuropathy due to MFN2 deficiency mondo_mondo_0019549_medgen_c4707897_orphanet_90118 MONDO:MONDO:0019549,MedGen:C4707897,Orphanet:90118 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Semidominant MFN2-related disorders semidominant_mfn2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Scarring alopecia of scalp human_phenotype_ontology_hp_0004552_medgen_c3806301 Human_Phenotype_Ontology:HP:0004552,MedGen:C3806301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Scarring human_phenotype_ontology_hp_0100699_medgen_c0008767 Human_Phenotype_Ontology:HP:0100699,MedGen:C0008767 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Peripheral axonal neuropathy human_phenotype_ontology_hp_0003477_human_phenotype_ontology_hp_0006814_human_phenotype_ontology_hp_0006842_human_phenotype_ontology_hp_0007169_human_phenotype_ontology_hp_0008304_mondo_mondo_0004183_medgen_c1263857 Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Nail dystrophy human_phenotype_ontology_hp_0008382_human_phenotype_ontology_hp_0008397_human_phenotype_ontology_hp_0008404_human_phenotype_ontology_hp_0008408_medgen_c0221260 Human_Phenotype_Ontology:HP:0008382,Human_Phenotype_Ontology:HP:0008397,Human_Phenotype_Ontology:HP:0008404,Human_Phenotype_Ontology:HP:0008408,MedGen:C0221260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Multiple system atrophy, cerebellar type mondo_mondo_0016418_medgen_c5554234_orphanet_227510 MONDO:MONDO:0016418,MedGen:C5554234,Orphanet:227510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Multiple symmetric lipomatosis mondo_mondo_0007908_medgen_c0023804_omim_151800_orphanet_2398 MONDO:MONDO:0007908,MedGen:C0023804,OMIM:151800,Orphanet:2398 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Hyperpigmentation of the skin human_phenotype_ontology_hp_0000953_human_phenotype_ontology_hp_0007527_mondo_mondo_0019289_medgen_c0162834_orphanet_79375 Human_Phenotype_Ontology:HP:0000953,Human_Phenotype_Ontology:HP:0007527,MONDO:MONDO:0019289,MedGen:C0162834,Orphanet:79375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Hereditary neuropathy or pain disorder hereditary_neuropathy_or_pain_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Hereditary motor neuron disease mondo_mondo_0024257_medgen_c0270763_orphanet_98505 MONDO:MONDO:0024257,MedGen:C0270763,Orphanet:98505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 EMG abnormality human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Decreased body weight human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Charcot-Marie-Tooth disease dominant intermediate B mondo_mondo_0011674_medgen_c1847902_omim_606482_orphanet_100044_orphanet_228179 MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Alopecia of scalp human_phenotype_ontology_hp_0002293_human_phenotype_ontology_hp_0200115_medgen_c0574769 Human_Phenotype_Ontology:HP:0002293,Human_Phenotype_Ontology:HP:0200115,MedGen:C0574769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Abnormality of the dentition human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Abnormal dental enamel morphology human_phenotype_ontology_hp_0000682_human_phenotype_ontology_hp_0006322_medgen_c4021800 Human_Phenotype_Ontology:HP:0000682,Human_Phenotype_Ontology:HP:0006322,MedGen:C4021800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Abnormal blistering of the skin human_phenotype_ontology_hp_0007467_human_phenotype_ontology_hp_0007496_human_phenotype_ontology_hp_0008066_human_phenotype_ontology_hp_0200038_medgen_c2132198 Human_Phenotype_Ontology:HP:0007467,Human_Phenotype_Ontology:HP:0007496,Human_Phenotype_Ontology:HP:0008066,Human_Phenotype_Ontology:HP:0200038,MedGen:C2132198 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFF Mitochondrial encephalomyopathy mondo_mondo_0004675_medgen_c0162666 MONDO:MONDO:0004675,MedGen:C0162666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFF Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFAP5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFAP5 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFAP5 Aortic aneurysm, familial thoracic 9 mondo_mondo_0014514_medgen_c4015368_omim_616166 MONDO:MONDO:0014514,MedGen:C4015368,OMIM:616166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence METTL4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence METAP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Osteofibrous dysplasia mondo_mondo_0011806_medgen_c4085248_omim_607278_orphanet_488265 MONDO:MONDO:0011806,MedGen:C4085248,OMIM:607278,Orphanet:488265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive nonsyndromic_hearing_loss_and_deafness_autosomal_recessive MedGen:CN043650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET MET-related disorder met_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Hereditary papillary renal cell carcinoma mondo_mondo_0003789_medgen_c0879257_orphanet_47044 MONDO:MONDO:0003789,MedGen:C0879257,Orphanet:47044 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MET Arthrogryposis, distal, type 1A mondo_mondo_0007157_medgen_c0220662_omim_108120_orphanet_1146 MONDO:MONDO:0007157,MedGen:C0220662,OMIM:108120,Orphanet:1146 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEST Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MESP2 Spondylocostal dysostosis 1, autosomal recessive mondo_mondo_0020692_medgen_cn032975_omim_277300_orphanet_2311 MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MERTK Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MERTK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Thyroid adenoma human_phenotype_ontology_hp_0000854_medgen_c0151468 Human_Phenotype_Ontology:HP:0000854,MedGen:C0151468 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Parathyroid adenoma, somatic medgen_c2675664 MedGen:C2675664 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Pancreatic insulin-producing neuroendocrine tumor mondo_mondo_0005048_medgen_c5848150_orphanet_97279 MONDO:MONDO:0005048,MedGen:C5848150,Orphanet:97279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Multiple endocrine neoplasia mondo_mondo_0017169_medgen_c0027662_omim_ps131100_orphanet_276161 MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Medullary thyroid carcinoma human_phenotype_ontology_hp_0002865_mondo_mondo_0015277_mesh_c536914_medgen_c0238462_orphanet_1332 Human_Phenotype_Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orphanet:1332 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Lung carcinoid tumor human_phenotype_ontology_hp_0030445_mondo_mondo_0006041_medgen_c0280089 Human_Phenotype_Ontology:HP:0030445,MONDO:MONDO:0006041,MedGen:C0280089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Lipoma, somatic medgen_c4017330 MedGen:C4017330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Hyperparathyroidism 1 mondo_mondo_0007767_medgen_c1840402_omim_145000_orphanet_99879 MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000,Orphanet:99879 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Gastrointestinal stromal tumor human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Ependymoma human_phenotype_ontology_hp_0002888_mondo_mondo_0016698_mesh_d004806_medgen_c0014474_orphanet_251636 Human_Phenotype_Ontology:HP:0002888,MONDO:MONDO:0016698,MeSH:D004806,MedGen:C0014474,Orphanet:251636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Chronic diarrhea human_phenotype_ontology_hp_0002028_mondo_mondo_0044751_medgen_c0401151 Human_Phenotype_Ontology:HP:0002028,MONDO:MONDO:0044751,MedGen:C0401151 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Calcium nephrolithiasis human_phenotype_ontology_hp_0004724_medgen_c1855801 Human_Phenotype_Ontology:HP:0004724,MedGen:C1855801 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Adrenocortical adenoma human_phenotype_ontology_hp_0008196_human_phenotype_ontology_hp_0008256_mondo_mondo_0003924_medgen_c0206667 Human_Phenotype_Ontology:HP:0008196,Human_Phenotype_Ontology:HP:0008256,MONDO:MONDO:0003924,MedGen:C0206667 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEN1 Abnormal circulating calcium concentration human_phenotype_ontology_hp_0004363_human_phenotype_ontology_hp_0040077_medgen_c4022450 Human_Phenotype_Ontology:HP:0004363,Human_Phenotype_Ontology:HP:0040077,MedGen:C4022450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIS2 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIS2 Cleft lip/palate mondo_mondo_0016044_medgen_c0158646_orphanet_199306 MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIOB Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEI1 MEI1-related disorder mei1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF8 Polydactyly human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF8 MEGF8-related disorder megf8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF8 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF10 MEGF10-related disorder megf10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV Recurrent fever human_phenotype_ontology_hp_0001954_human_phenotype_ontology_hp_0004903_human_phenotype_ontology_hp_0005962_human_phenotype_ontology_hp_0005966_human_phenotype_ontology_hp_0005980_medgen_c3714772 Human_Phenotype_Ontology:HP:0001954,Human_Phenotype_Ontology:HP:0004903,Human_Phenotype_Ontology:HP:0005962,Human_Phenotype_Ontology:HP:0005966,Human_Phenotype_Ontology:HP:0005980,MedGen:C3714772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEFV Behcet disease mondo_mondo_0007191_medgen_c0004943_omim_109650_orphanet_117 MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C MEF2C Haploinsufficiency Syndrome mef2c_haploinsufficiency_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Autosomal dominant epilepsy autosomal_dominant_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C 5q14.3 microdeletion syndrome mondo_mondo_0016456_medgen_c4304529_orphanet_228384 MONDO:MONDO:0016456,MedGen:C4304529,Orphanet:228384 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED29 pontocerebellar hypoplasia with cataract pontocerebellar_hypoplasia_with_cataract . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED25 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED25 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED25 Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED23 MED23-related disorder med23_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED23 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED17 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Vesicoureteral reflux human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Syndromic microphthalmia mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Kabuki-like syndrome kabuki_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Chromatinopathy chromatinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 MED13-related neurodevelopmental disorder med13_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 MED13-associated disorder med13_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 CDK8-kinase module-associated disorder cdk8_kinase_module_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L P2RY12-related disorder p2ry12_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L MED12L-associated neurodevelopmental disorder med12l_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L Impaired ADP-induced platelet aggregation human_phenotype_ontology_hp_0004866_medgen_c4025282 Human_Phenotype_Ontology:HP:0004866,MedGen:C4025282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12L Abnormal platelet function human_phenotype_ontology_hp_0011869_medgen_c0855740 Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 X-linked MED12-related disorders x_linked_med12_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 MED12-related neurodevelopmental delay med12_related_neurodevelopmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Imperforate anus human_phenotype_ontology_hp_0001550_human_phenotype_ontology_hp_0002023_mondo_mondo_0001046_medgen_c0003466_omim_207500_omim_301800_orphanet_557 Human_Phenotype_Ontology:HP:0001550,Human_Phenotype_Ontology:HP:0002023,MONDO:MONDO:0001046,MedGen:C0003466,OMIM:207500,OMIM:301800,Orphanet:557 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Expressive language delay human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Broad thumb human_phenotype_ontology_hp_0001173_human_phenotype_ontology_hp_0001240_human_phenotype_ontology_hp_0004073_human_phenotype_ontology_hp_0009651_human_phenotype_ontology_hp_0011304_medgen_c0426891 Human_Phenotype_Ontology:HP:0001173,Human_Phenotype_Ontology:HP:0001240,Human_Phenotype_Ontology:HP:0004073,Human_Phenotype_Ontology:HP:0009651,Human_Phenotype_Ontology:HP:0011304,MedGen:C0426891 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED11 Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities mondo_mondo_0957225_medgen_c5830433_omim_620327 MONDO:MONDO:0957225,MedGen:C5830433,OMIM:620327 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECR MECR-related disorder mecr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Stridor human_phenotype_ontology_hp_0010307_medgen_c0038450 Human_Phenotype_Ontology:HP:0010307,MedGen:C0038450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Stenosis of the external auditory canal human_phenotype_ontology_hp_0000373_human_phenotype_ontology_hp_0000402_medgen_c0395837 Human_Phenotype_Ontology:HP:0000373,Human_Phenotype_Ontology:HP:0000402,MedGen:C0395837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Smith-Magenis Syndrome-like smith_magenis_syndrome_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Sick sinus syndrome human_phenotype_ontology_hp_0011704_mondo_mondo_0001823_medgen_c0037052 Human_Phenotype_Ontology:HP:0011704,MONDO:MONDO:0001823,MedGen:C0037052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Progressive neurologic deterioration human_phenotype_ontology_hp_0002344_medgen_c1854838 Human_Phenotype_Ontology:HP:0002344,MedGen:C1854838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Postnatal growth retardation human_phenotype_ontology_hp_0008844_human_phenotype_ontology_hp_0008865_human_phenotype_ontology_hp_0008868_human_phenotype_ontology_hp_0008897_human_phenotype_ontology_hp_0008901_human_phenotype_ontology_hp_0008918_medgen_c1859778 Human_Phenotype_Ontology:HP:0008844,Human_Phenotype_Ontology:HP:0008865,Human_Phenotype_Ontology:HP:0008868,Human_Phenotype_Ontology:HP:0008897,Human_Phenotype_Ontology:HP:0008901,Human_Phenotype_Ontology:HP:0008918,MedGen:C1859778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Non-syndromic X-linked intellectual disability mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Motor neuron atrophy human_phenotype_ontology_hp_0007373_medgen_c4024896 Human_Phenotype_Ontology:HP:0007373,MedGen:C4024896 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Metatarsus adductus human_phenotype_ontology_hp_0001768_human_phenotype_ontology_hp_0001840_human_phenotype_ontology_hp_0010217_medgen_c4082169 Human_Phenotype_Ontology:HP:0001768,Human_Phenotype_Ontology:HP:0001840,Human_Phenotype_Ontology:HP:0010217,MedGen:C4082169 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Loss of ambulation human_phenotype_ontology_hp_0002505_human_phenotype_ontology_hp_0006957_medgen_c1836843 Human_Phenotype_Ontology:HP:0002505,Human_Phenotype_Ontology:HP:0006957,MedGen:C1836843 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Irregular respiration human_phenotype_ontology_hp_0012195_medgen_c0425492 Human_Phenotype_Ontology:HP:0012195,MedGen:C0425492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Facial hypertrichosis human_phenotype_ontology_hp_0002219_medgen_c1851400_omim_134000 Human_Phenotype_Ontology:HP:0002219,MedGen:C1851400,OMIM:134000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Congenital laryngomalacia human_phenotype_ontology_hp_0001601_mondo_mondo_0007878_medgen_c0264303_omim_150280_orphanet_2373 Human_Phenotype_Ontology:HP:0001601,MONDO:MONDO:0007878,MedGen:C0264303,OMIM:150280,Orphanet:2373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Central hypotonia human_phenotype_ontology_hp_0011398_medgen_c1842364 Human_Phenotype_Ontology:HP:0011398,MedGen:C1842364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Central apnea human_phenotype_ontology_hp_0002871_medgen_c3887548 Human_Phenotype_Ontology:HP:0002871,MedGen:C3887548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Bulbar palsy human_phenotype_ontology_hp_0001283_human_phenotype_ontology_hp_0003441_human_phenotype_ontology_hp_0003709_medgen_c4082299 Human_Phenotype_Ontology:HP:0001283,Human_Phenotype_Ontology:HP:0003441,Human_Phenotype_Ontology:HP:0003709,MedGen:C4082299 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Bruxism human_phenotype_ontology_hp_0003763_mondo_mondo_0002443_medgen_c0006325 Human_Phenotype_Ontology:HP:0003763,MONDO:MONDO:0002443,MedGen:C0006325 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Abnormal synaptic transmission human_phenotype_ontology_hp_0012535_medgen_c4021083 Human_Phenotype_Ontology:HP:0012535,MedGen:C4021083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Abnormal muscle fiber morphology human_phenotype_ontology_hp_0003706_human_phenotype_ontology_hp_0004303_human_phenotype_ontology_hp_0011806_medgen_c4021663 Human_Phenotype_Ontology:HP:0003706,Human_Phenotype_Ontology:HP:0004303,Human_Phenotype_Ontology:HP:0011806,MedGen:C4021663 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM MECOM-related disorder mecom_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MECOM Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEA1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEA1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEA1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEA1 Hogue-Janssens syndrome 1 mondo_mondo_0014602_medgen_c5779996_omim_616355_orphanet_457279 MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEA1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ME2 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDM2 Lessel-kubisch syndrome mondo_mondo_0032868_medgen_c5231460_omim_618681 MONDO:MONDO:0032868,MedGen:C5231460,OMIM:618681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDM2 Accelerated tumor formation, susceptibility to medgen_c3280690_omim_614401 MedGen:C3280690,OMIM:614401 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDH1 Developmental and epileptic encephalopathy, 88 mondo_mondo_0030072_medgen_c5394553_omim_618959 MONDO:MONDO:0030072,MedGen:C5394553,OMIM:618959 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDGA2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDFIC condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MDFIC MDFIC-related disorder mdfic_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCUR1 Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCUR1 Skeletal myopathy human_phenotype_ontology_hp_0003756_mondo_mondo_0020120_medgen_c1533847_orphanet_98472 Human_Phenotype_Ontology:HP:0003756,MONDO:MONDO:0020120,MedGen:C1533847,Orphanet:98472 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCUR1 Pes cavus human_phenotype_ontology_hp_0001761_medgen_c0728829 Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCUR1 Muscular atrophy human_phenotype_ontology_hp_0001299_human_phenotype_ontology_hp_0003202_human_phenotype_ontology_hp_0003545_human_phenotype_ontology_hp_0003671_human_phenotype_ontology_hp_0003702_human_phenotype_ontology_hp_0003746_human_phenotype_ontology_hp_0006995_human_phenotype_ontology_hp_0007171_human_phenotype_ontology_hp_0007356_human_phenotype_ontology_hp_0009010_human_phenotype_ontology_hp_0009048_human_phenotype_ontology_hp_0100868_mondo_mondo_0004323_medgen_c0541794 Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCUR1 Highly elevated creatine kinase human_phenotype_ontology_hp_0030234_medgen_c4022565 Human_Phenotype_Ontology:HP:0030234,MedGen:C4022565 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCPH1 MCPH1-related disorder mcph1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCPH1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCPH1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Mucolipidosis mondo_mondo_0019248_medgen_c0026697_orphanet_79212 MONDO:MONDO:0019248,MedGen:C0026697,Orphanet:79212 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCMDC2 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM9 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM9 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM8 Joubert syndrome 6 mondo_mondo_0012539_medgen_c1853153_omim_610688_orphanet_475 MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM8 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM5 Meier-Gorlin syndrome 8 mondo_mondo_0033046_medgen_c4479655_omim_617564 MONDO:MONDO:0033046,MedGen:C4479655,OMIM:617564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCM4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCIDAS Primary ciliary dyskinesia 3 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Reduced von Willebrand factor activity human_phenotype_ontology_hp_0008330_medgen_c4024701 Human_Phenotype_Ontology:HP:0008330,MedGen:C4024701 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Reduced quantity of Von Willebrand factor human_phenotype_ontology_hp_0012147_medgen_c4023022 Human_Phenotype_Ontology:HP:0012147,MedGen:C4023022 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Multiple gastrointestinal atresias mondo_mondo_0009465_medgen_c0220744_orphanet_2300 MONDO:MONDO:0009465,MedGen:C0220744,Orphanet:2300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 MCFD2-related disorder mcfd2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Gastrointestinal defect and immunodeficiency syndrome mondo_mondo_0030831_medgen_c5234880_omim_ps243150 MONDO:MONDO:0030831,MedGen:C5234880,OMIM:PS243150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCFD2 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCEE condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCEE MCEE-related disorder mcee_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCEE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC2 Spinal muscular atrophy, type IV mondo_mondo_0010056_medgen_c1838230_omim_271150_orphanet_83420 MONDO:MONDO:0010056,MedGen:C1838230,OMIM:271150,Orphanet:83420 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R adipositas adipositas . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R Schizophrenia human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R Inherited obesity mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC2R Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC1R Tyrosinase-positive oculocutaneous albinism mondo_mondo_0008746_medgen_c0268495_omim_203200_orphanet_79432 MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC1R Skin and Hair Hypopigmentation skin_and_hair_hypopigmentation . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC1R SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 medgen_c1849452_omim_266300 MedGen:C1849452,OMIM:266300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS2 Olmsted syndrome, X-linked mondo_mondo_0010486_medgen_c3806745_omim_300918_orphanet_659 MONDO:MONDO:0010486,MedGen:C3806745,OMIM:300918,Orphanet:659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS2 MBTPS2-related disorder mbtps2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked mondo_mondo_0010637_medgen_c3887525_omim_308800_orphanet_2340 MONDO:MONDO:0010637,MedGen:C3887525,OMIM:308800,Orphanet:2340 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBTPS2 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBOAT7 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBOAT7 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBLAC1 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD5 MBD5 associated neurodevelopmental disorder mbd5_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MB Myopathy, sarcoplasmic body mondo_mondo_0859530_medgen_c5830362_omim_620286 MONDO:MONDO:0859530,MedGen:C5830362,OMIM:620286 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MB Colorectal carcinoma mondo_mondo_0024331_medgen_c0009402 MONDO:MONDO:0024331,MedGen:C0009402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAZ Infantile convulsions and choreoathetosis mondo_mondo_0011178_medgen_c1865926_omim_602066_orphanet_31709 MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAZ Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATR3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATR3 Amyotrophic lateral sclerosis type 21 mondo_mondo_0011632_medgen_c3807521_omim_606070_orphanet_600_orphanet_803 MONDO:MONDO:0011632,MedGen:C3807521,OMIM:606070,Orphanet:600,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN4 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN4 Proptosis human_phenotype_ontology_hp_0000520_human_phenotype_ontology_hp_0000536_human_phenotype_ontology_hp_0000644_human_phenotype_ontology_hp_0000645_human_phenotype_ontology_hp_0007711_human_phenotype_ontology_hp_0007870_mondo_mondo_0004770_medgen_c0015300 Human_Phenotype_Ontology:HP:0000520,Human_Phenotype_Ontology:HP:0000536,Human_Phenotype_Ontology:HP:0000644,Human_Phenotype_Ontology:HP:0000645,Human_Phenotype_Ontology:HP:0007711,Human_Phenotype_Ontology:HP:0007870,MONDO:MONDO:0004770,MedGen:C0015300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN4 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN4 Lumbosacral myelomeningocele lumbosacral_myelomeningocele MedGen:CN228305 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN4 Holoprosencephaly sequence human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN4 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN4 Diabetes insipidus human_phenotype_ontology_hp_0000873_mondo_mondo_0004782_medgen_c0011848 Human_Phenotype_Ontology:HP:0000873,MONDO:MONDO:0004782,MedGen:C0011848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN3 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome mondo_mondo_0008322_medgen_c0410538_omim_177170_orphanet_750 MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN3 Osteoarthritis susceptibility 2 mondo_mondo_0007704_medgen_c3887526_omim_140600 MONDO:MONDO:0007704,MedGen:C3887526,OMIM:140600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MATN3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAT2A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAT2A Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAST4 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAST3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAST1 MAST1-related disorder mast1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP2 TARDBP-related disorder tardbp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP2 Immunodeficiency due to MASP-2 deficiency mondo_mondo_0013423_medgen_c3151085_omim_613791_orphanet_331187 MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP2 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED medgen_c3150169 MedGen:C3150169 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP2 Amyotrophic lateral sclerosis type 10 mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP1 MASP1-related disorder masp1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MASP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARVELD2 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARVELD2 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARVELD2 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARS2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARS1 Pulmonary alveolar proteinosis human_phenotype_ontology_hp_0006517_mondo_mondo_0001437_medgen_c5400698 Human_Phenotype_Ontology:HP:0006517,MONDO:MONDO:0001437,MedGen:C5400698 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARS1 Charcot-Marie-Tooth disease axonal type 2U mondo_mondo_0014566_medgen_c4084821_omim_616280_orphanet_397735 MONDO:MONDO:0014566,MedGen:C4084821,OMIM:616280,Orphanet:397735 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARS1 Autosomal recessive spastic paraplegia type 70 mondo_mondo_0018422_medgen_c4749431_omim_620323_orphanet_401835 MONDO:MONDO:0018422,MedGen:C4749431,OMIM:620323,Orphanet:401835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARK3 Visual impairment and progressive phthisis bulbi mondo_mondo_0032655_medgen_c4748978_omim_618283 MONDO:MONDO:0032655,MedGen:C4748978,OMIM:618283 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARK2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARK2 MARK2-associated neurodevelopmental disorder mark2_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARK2 MARK2-associated disorder mark2_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARK2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARCKS condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARCHF6 Epilepsy, familial adult myoclonic, 3 mondo_mondo_0013322_medgen_c3150860_omim_613608_orphanet_86814 MONDO:MONDO:0013322,MedGen:C3150860,OMIM:613608,Orphanet:86814 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Mental deterioration human_phenotype_ontology_hp_0001268_human_phenotype_ontology_hp_0002303_human_phenotype_ontology_hp_0006822_human_phenotype_ontology_hp_0007155_human_phenotype_ontology_hp_0007253_human_phenotype_ontology_hp_0007264_human_phenotype_ontology_hp_0007298_medgen_c0234985 Human_Phenotype_Ontology:HP:0001268,Human_Phenotype_Ontology:HP:0002303,Human_Phenotype_Ontology:HP:0006822,Human_Phenotype_Ontology:HP:0007155,Human_Phenotype_Ontology:HP:0007253,Human_Phenotype_Ontology:HP:0007264,Human_Phenotype_Ontology:HP:0007298,MedGen:C0234985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Memory impairment human_phenotype_ontology_hp_0000747_human_phenotype_ontology_hp_0002081_human_phenotype_ontology_hp_0002354_medgen_c0233794 Human_Phenotype_Ontology:HP:0000747,Human_Phenotype_Ontology:HP:0002081,Human_Phenotype_Ontology:HP:0002354,MedGen:C0233794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Dementia human_phenotype_ontology_hp_0000726_human_phenotype_ontology_hp_0002274_human_phenotype_ontology_hp_0007122_human_phenotype_ontology_hp_0007150_human_phenotype_ontology_hp_0007283_mondo_mondo_0001627_medgen_c0497327 Human_Phenotype_Ontology:HP:0000726,Human_Phenotype_Ontology:HP:0002274,Human_Phenotype_Ontology:HP:0007122,Human_Phenotype_Ontology:HP:0007150,Human_Phenotype_Ontology:HP:0007283,MONDO:MONDO:0001627,MedGen:C0497327 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Alzheimer disease human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Adult onset neurodegenerative disorder adult_onset_neurodegenerative_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPRE2 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPKBP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPKAPK3 Patterned macular dystrophy 3 mondo_mondo_0014920_medgen_c4310713_omim_617111_orphanet_466718 MONDO:MONDO:0014920,MedGen:C4310713,OMIM:617111,Orphanet:466718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK8IP3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK8IP3 MAPK8IP3-related disorder mapk8ip3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 MAPK1-related disorder mapk1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K4 Renal dysplasia human_phenotype_ontology_hp_0000110_human_phenotype_ontology_hp_0000116_human_phenotype_ontology_hp_0004721_mondo_mondo_0019638_medgen_c3536714_orphanet_93108 Human_Phenotype_Ontology:HP:0000110,Human_Phenotype_Ontology:HP:0000116,Human_Phenotype_Ontology:HP:0004721,MONDO:MONDO:0019638,MedGen:C3536714,Orphanet:93108 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K4 MAP4K4-related neurodevelopmental delay map4k4_related_neurodevelopmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K4 Imperforate anus human_phenotype_ontology_hp_0001550_human_phenotype_ontology_hp_0002023_mondo_mondo_0001046_medgen_c0003466_omim_207500_omim_301800_orphanet_557 Human_Phenotype_Ontology:HP:0001550,Human_Phenotype_Ontology:HP:0002023,MONDO:MONDO:0001046,MedGen:C0003466,OMIM:207500,OMIM:301800,Orphanet:557 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K4 Early-onset non-syndromic cataract human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K4 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K2 Multiple endocrine neoplasia, type 1 mondo_mondo_0007540_mesh_d018761_medgen_c0025267_omim_131100_orphanet_652 MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP4K2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K3 Verrucous hemangioma mondo_mondo_0018734_medgen_c0334540_orphanet_464318 MONDO:MONDO:0018734,MedGen:C0334540,Orphanet:464318 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K3 CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC cerebral_cavernous_malformations_5_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K20 Split hand-foot malformation 1 mondo_mondo_0008464_medgen_c2931019_omim_183600_orphanet_2440 MONDO:MONDO:0008464,MedGen:C2931019,OMIM:183600,Orphanet:2440 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K20 MAP3K20-related disorder map3k20_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K20 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K14 NIK deficiency mondo_mondo_0018642_medgen_c5680065_orphanet_447731 MONDO:MONDO:0018642,MedGen:C5680065,Orphanet:447731 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K14 Immunodeficiency 112 mondo_mondo_0957535_medgen_c5830633_omim_620449 MONDO:MONDO:0957535,MedGen:C5830633,OMIM:620449 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K11 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K1 MAP3K1-related disorder map3k1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP3K1 Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Smith-Magenis Syndrome-like smith_magenis_syndrome_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Castleman-Kojima disease mondo_mondo_0018702_medgen_c4552543_orphanet_457077 MONDO:MONDO:0018702,MedGen:C4552543,Orphanet:457077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K2 Cardiofaciocutaneous syndrome 1 mondo_mondo_0007265_medgen_cn029449_omim_115150_orphanet_1340 MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Parkes Weber syndrome medgen_c5574870_orphanet_2346 MedGen:C5574870,Orphanet:2346 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 MAP2K1-related rasopathy-like syndrome map2k1_related_rasopathy_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 MAP2K1-related RASopathy map2k1_related_rasopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Arteriovenous malformation human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Pyloric stenosis mondo_mondo_0001561_medgen_c0034194 MONDO:MONDO:0001561,MedGen:C0034194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Metopic synostosis human_phenotype_ontology_hp_0011330_medgen_c1860819 Human_Phenotype_Ontology:HP:0011330,MedGen:C1860819 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Chromosome 5Q14.3 deletion syndrome, distal mondo_mondo_0013031_medgen_c2752071_omim_612881_orphanet_2149 MONDO:MONDO:0013031,MedGen:C2752071,OMIM:612881,Orphanet:2149 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAOA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MANF Cerebro-costo-mandibular syndrome mondo_mondo_0007301_medgen_c0265342_omim_117650_orphanet_1393 MONDO:MONDO:0007301,MedGen:C0265342,OMIM:117650,Orphanet:1393 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MANEAL MANEAL-associated disorder maneal_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MANBA Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B1 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency mondo_mondo_0009612_medgen_c1855114_omim_251000_orphanet_27 MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B1 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN1B1 MAN1B1-related disorder man1b1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN1B1 MAN1B1-congenital disorder of glycosylation mondo_mondo_0018349_medgen_c4518783_orphanet_397941 MONDO:MONDO:0018349,MedGen:C4518783,Orphanet:397941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAMLD1 46,XY ovotesticular disorder of sex development mondo_mondo_0017968_medgen_c2697358_orphanet_325345 MONDO:MONDO:0017968,MedGen:C2697358,Orphanet:325345 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MALT1 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAK16 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome mondo_mondo_0014238_medgen_c3809853_omim_615541_orphanet_391307 MONDO:MONDO:0014238,MedGen:C3809853,OMIM:615541,Orphanet:391307 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAK MAK-related retinopathy mondo_mondo_0700229_medgen_cn375904 MONDO:MONDO:0700229,MedGen:CN375904 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAK Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGI2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Prader-Willi-like syndrome mondo_mondo_0018354_medgen_c3809877_orphanet_398073 MONDO:MONDO:0018354,MedGen:C3809877,Orphanet:398073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Multiple joint contractures human_phenotype_ontology_hp_0002828_medgen_c0158118 Human_Phenotype_Ontology:HP:0002828,MedGen:C0158118 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Ambiguous genitalia human_phenotype_ontology_hp_0000062_human_phenotype_ontology_hp_0008685_human_phenotype_ontology_hp_0008693_medgen_c0266362 Human_Phenotype_Ontology:HP:0000062,Human_Phenotype_Ontology:HP:0008685,Human_Phenotype_Ontology:HP:0008693,MedGen:C0266362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGED2 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAG condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAG Orofacial cleft 1 mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB Orofacial cleft 1 mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAFB Carpal osteolysis human_phenotype_ontology_hp_0001495_medgen_c1833734 Human_Phenotype_Ontology:HP:0001495,MedGen:C1833734 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MADD Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type mondo_mondo_0018332_medgen_c5680029_orphanet_394529 MONDO:MONDO:0018332,MedGen:C5680029,Orphanet:394529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MADD Autosomal recessive MADD-related disorders autosomal_recessive_madd_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAD2L2 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAD2L2 Fanconi anemia complementation group V mondo_mondo_0014985_medgen_c4310652_omim_617243 MONDO:MONDO:0014985,MedGen:C4310652,OMIM:617243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAD1L1 LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC lymphoma_diffuse_large_b_cell_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MACROH2A1 MACROH2A1-related neurodevelopmental disorder macroh2a1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MACROD2 Hypogonadotropic hypogonadism 21 with or without anosmia mondo_mondo_0014107_medgen_c3808986_omim_615271_orphanet_478 MONDO:MONDO:0014107,MedGen:C3808986,OMIM:615271,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MACF1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAB21L2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAB21L1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAB21L1 Hypoplasia of scrotum medgen_c0431659 MedGen:C0431659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence M1AP Spermatogenesis maturation arrest human_phenotype_ontology_hp_0031038_medgen_c4477100 Human_Phenotype_Ontology:HP:0031038,MedGen:C4477100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence M1AP Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Pediatric high-grade glioma mondo_mondo_1010030_medgen_c5908419 MONDO:MONDO:1010030,MedGen:C5908419 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 LZTR1-associated CaLMs-syndrome lztr1_associated_calms_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Fetal cystic hygroma human_phenotype_ontology_hp_0010878_medgen_c0948242_omim_257350_orphanet_79486 Human_Phenotype_Ontology:HP:0010878,MedGen:C0948242,OMIM:257350,Orphanet:79486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Familial multiple meningioma mondo_mondo_0016995_medgen_c4707361_orphanet_263662 MONDO:MONDO:0016995,MedGen:C4707361,Orphanet:263662 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Emery-Dreifuss muscular dystrophy mondo_mondo_0016830_medgen_c0410189_omim_ps310300_orphanet_261 MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LZTFL1 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST Recurrent infections human_phenotype_ontology_hp_0002719_human_phenotype_ontology_hp_0002957_human_phenotype_ontology_hp_0002964_human_phenotype_ontology_hp_0005405_medgen_c0239998 Human_Phenotype_Ontology:HP:0002719,Human_Phenotype_Ontology:HP:0002957,Human_Phenotype_Ontology:HP:0002964,Human_Phenotype_Ontology:HP:0005405,MedGen:C0239998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST Adrenocortical carcinoma, hereditary mondo_mondo_0008734_medgen_c1859972_omim_202300_orphanet_1501 MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYST Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYSET Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYRM7 Mitochondrial complex III deficiency nuclear type 1 mondo_mondo_0007415_medgen_c3541471_omim_124000_orphanet_254902 MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000,Orphanet:254902 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LYRM4 Combined oxidative phosphorylation deficiency 19 mondo_mondo_0014269_medgen_c3810055_omim_615595_orphanet_397593 MONDO:MONDO:0014269,MedGen:C3810055,OMIM:615595,Orphanet:397593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LY6G5B Poirier-Bienvenu neurodevelopmental syndrome mondo_mondo_0032889_medgen_c5231482_omim_618732_orphanet_689397 MONDO:MONDO:0032889,MedGen:C5231482,OMIM:618732,Orphanet:689397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LURAP1L Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LUC7L2 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTV1 Inflammatory poikiloderma with hair abnormalities and acral keratoses mondo_mondo_0859355_medgen_c5774293_omim_620199 MONDO:MONDO:0859355,MedGen:C5774293,OMIM:620199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP4 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP3 Geleophysic dysplasia 1 mondo_mondo_0009269_medgen_c3278147_omim_231050_orphanet_2623 MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP3 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Weill-Marchesani syndrome 1 mondo_mondo_0010194_medgen_c4552002_omim_277600_orphanet_3449 MONDO:MONDO:0010194,MedGen:C4552002,OMIM:277600,Orphanet:3449 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Primary open angle glaucoma mondo_mondo_0100553_medgen_c0339573_omim_137760 MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Marfan syndrome mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 LTBP2-related disorder ltbp2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP2 Glaucoma of childhood human_phenotype_ontology_hp_0001087_mondo_mondo_0020367_medgen_c2981140_orphanet_98977 Human_Phenotype_Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSR Progressive familial intrahepatic cholestasis type 1 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSR Progressive familial intrahepatic cholestasis mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSM7 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSM7 LSM7-related leukodystrophy and cerebellar atrophy mondo_mondo_0978294_medgen_c6012719_omim_621191 MONDO:MONDO:0978294,MedGen:C6012719,OMIM:621191 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSM7 Joubert syndrome 36 mondo_mondo_0032902_medgen_c5231493_omim_618763 MONDO:MONDO:0032902,MedGen:C5231493,OMIM:618763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSM7 In utero death in_utero_death . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSM11 Aicardi-Goutieres syndrome 8 mondo_mondo_0030361_medgen_c5551352_omim_619486 MONDO:MONDO:0030361,MedGen:C5551352,OMIM:619486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSM1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LSM1 FICUS syndrome mondo_mondo_0978296_medgen_c6011251_omim_621193 MONDO:MONDO:0978296,MedGen:C6011251,OMIM:621193 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRSAM1 LRSAM1-related disorder lrsam1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK2 Young-onset Parkinson disease mondo_mondo_0017279_medgen_c4275179_orphanet_2828 MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK2 Parkinson disease mondo_mondo_0005180_mesh_d010300_medgen_c0030567_omim_ps168600 MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK2 LRRK2-related disorder lrrk2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK2 Interstitial pulmonary disease interstitial_pulmonary_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRCC1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRCC1 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC7 LRRC7-associated disorder lrrc7_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 cutaneous-skeletal hypophosphatemia syndrome cutaneous_skeletal_hypophosphatemia_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Wooly hair nevus mondo_mondo_0019311_medgen_c0343114_orphanet_79414 MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:79414 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Spermatocytic seminoma mondo_mondo_0020513_medgen_c0334517_orphanet_99865 MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Salivary gland neoplasm human_phenotype_ontology_hp_0100684_mondo_mondo_0021357_medgen_c0036095 Human_Phenotype_Ontology:HP:0100684,MONDO:MONDO:0021357,MedGen:C0036095 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 SPITZ NEVUS, SOMATIC spitz_nevus_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 NEVUS SPILUS, SOMATIC nevus_spilus_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 LRRC56-related disorder lrrc56_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 KA-like vemurafenib-induced squamous lesions ka_like_vemurafenib_induced_squamous_lesions . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Intramuscular hemangioma mondo_mondo_0003088_medgen_c0205789 MONDO:MONDO:0003088,MedGen:C0205789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC medgen_c3277679 MedGen:C3277679 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 COSTELLO SYNDROME, SEVERE medgen_c4016398 MedGen:C4016398 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC53 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC53 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC53 Atrial conduction disease mondo_mondo_0014500_medgen_cn221670_orphanet_436242 MONDO:MONDO:0014500,MedGen:CN221670,Orphanet:436242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC51 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC51 Autosomal recessive nonsyndromic hearing loss 63 mondo_mondo_0012670_medgen_c1969621_omim_611451_orphanet_90636 MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC45 LRRC45 associated neurological ciliopathy lrrc45_associated_neurological_ciliopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Tetraamelia syndrome 1 mondo_mondo_0060764_medgen_c4012268_omim_273395_orphanet_3301 MONDO:MONDO:0060764,MedGen:C4012268,OMIM:273395,Orphanet:3301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Renal hypoplasia human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Renal dysplasia human_phenotype_ontology_hp_0000110_human_phenotype_ontology_hp_0000116_human_phenotype_ontology_hp_0004721_mondo_mondo_0019638_medgen_c3536714_orphanet_93108 Human_Phenotype_Ontology:HP:0000110,Human_Phenotype_Ontology:HP:0000116,Human_Phenotype_Ontology:HP:0004721,MONDO:MONDO:0019638,MedGen:C3536714,Orphanet:93108 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Cystic renal dysplasia human_phenotype_ontology_hp_0000800_human_phenotype_ontology_hp_0008737_medgen_c1834931 Human_Phenotype_Ontology:HP:0000800,Human_Phenotype_Ontology:HP:0008737,MedGen:C1834931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Bladder exstrophy-epispadias-cloacal extrophy complex mondo_mondo_0700039_medgen_c1838703_omim_600057_orphanet_93930 MONDO:MONDO:0700039,MedGen:C1838703,OMIM:600057,Orphanet:93930 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC32 Vitreoretinopathy human_phenotype_ontology_hp_0000655_human_phenotype_ontology_hp_0007773_mondo_mondo_0020248_medgen_c0344290 Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC32 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC32 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRPPRC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRPAP1 Rare isolated myopia medgen_c4751232_orphanet_98619 MedGen:C4751232,Orphanet:98619 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Osteopetrosis, autosomal dominant 4 mondo_mondo_0980938_medgen_cn380686_omim_621449 MONDO:MONDO:0980938,MedGen:CN380686,OMIM:621449 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Orofacial cleft human_phenotype_ontology_hp_0000202_mondo_mondo_0000358_medgen_c3266076_omim_ps119530 Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Vitreoretinopathy human_phenotype_ontology_hp_0000655_human_phenotype_ontology_hp_0007773_mondo_mondo_0020248_medgen_c0344290 Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Van Buchem disease type 2 medgen_c1843323_orphanet_3416 MedGen:C1843323,Orphanet:3416 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 LRP5-related primary osteoporosis mondo_mondo_0044675_medgen_c5567241_orphanet_498481 MONDO:MONDO:0044675,MedGen:C5567241,Orphanet:498481 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Exudative vitreoretinopathy 4, digenic medgen_c4016840 MedGen:C4016840 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Disorder of bone mondo_mondo_0005381_medgen_c0005940_orphanet_364803 MONDO:MONDO:0005381,MedGen:C0005940,Orphanet:364803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP4 Other rare neuromuscular disorders other_rare_neuromuscular_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP4 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP2 Stickler syndrome mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP1-AS Developmental dysplasia of the hip 3 mondo_mondo_0958037_medgen_c5882750_omim_620690 MONDO:MONDO:0958037,MedGen:C5882750,OMIM:620690 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP1 Keratosis pilaris human_phenotype_ontology_hp_0032152_human_phenotype_ontology_hp_0040180_mondo_mondo_0021036_medgen_c0263383_orphanet_3406 Human_Phenotype_Ontology:HP:0032152,Human_Phenotype_Ontology:HP:0040180,MONDO:MONDO:0021036,MedGen:C0263383,Orphanet:3406 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP1 Atrophoderma vermiculatum human_phenotype_ontology_hp_0100837_mondo_mondo_0008849_medgen_c0263429_omim_209700_orphanet_79100 Human_Phenotype_Ontology:HP:0100837,MONDO:MONDO:0008849,MedGen:C0263429,OMIM:209700,Orphanet:79100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRMDA LRMDA-related disorder lrmda_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRIT3 Stargardt disease mondo_mondo_0019353_medgen_c0271093_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRIT3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRIG2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRIF1 Facioscapulohumeral muscular dystrophy 3, digenic mondo_mondo_0030354_medgen_c5561959_omim_619477 MONDO:MONDO:0030354,MedGen:C5561959,OMIM:619477 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRFN4 Pyruvate carboxylase deficiency mondo_mondo_0009949_medgen_c0034341_omim_266150_orphanet_3008 MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRFN1 LRFN1 lrfn1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRCH2 Demyelinating peripheral neuropathy human_phenotype_ontology_hp_0007108_human_phenotype_ontology_hp_0007205_mondo_mondo_0003334_medgen_c0270922 Human_Phenotype_Ontology:HP:0007108,Human_Phenotype_Ontology:HP:0007205,MONDO:MONDO:0003334,MedGen:C0270922 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRCH2 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED medgen_c2750065 MedGen:C2750065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT Leber congenital amaurosis 1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT LRAT-related disorder lrat_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRAT Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPL Lipase deficiency, combined mondo_mondo_0009527_medgen_c1855498_omim_246650_orphanet_535453 MONDO:MONDO:0009527,MedGen:C1855498,OMIM:246650,Orphanet:535453 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPL LIPOPROTEIN LIPASE (OLBIA) lipoprotein_lipase_olbia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN2 LPIN2-related disorder lpin2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN1 Other rare neuromuscular disorders other_rare_neuromuscular_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN1 LPIN1-related disorder lpin1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPCAT2 Multicentric osteolysis nodulosis arthropathy spectrum mondo_mondo_0018298_medgen_c1850155_orphanet_3460_orphanet_371428 MONDO:MONDO:0018298,MedGen:C1850155,Orphanet:3460,Orphanet:371428 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPAR6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPAR6 Wooly hair, autosomal recessive 3 mondo_mondo_0014765_medgen_c4225214_omim_616760_orphanet_170 MONDO:MONDO:0014765,MedGen:C4225214,OMIM:616760,Orphanet:170 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPA Lipoprotein(a) deficiency, congenital medgen_c1835362 MedGen:C1835362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPA LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS medgen_c5394134_omim_618807 MedGen:C5394134,OMIM:618807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Generalized arterial tortuosity human_phenotype_ontology_hp_0004955_medgen_c1836651 Human_Phenotype_Ontology:HP:0004955,MedGen:C1836651 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Familial aortopathy familial_aortopathy MedGen:CN078214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOX Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LORICRIN Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LONP2 SIAH1-related neurodevelopmental disorder siah1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LONP2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LONP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOC128092252 Intestinal hypomagnesemia 1 mondo_mondo_0011176_medgen_c1865974_omim_602014_orphanet_30924 MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LOC128092249 PCNT-related disorder pcnt_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LNPK condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B Lipoid nephrosis human_phenotype_ontology_hp_0012579_mondo_mondo_0006835_medgen_c0027721 Human_Phenotype_Ontology:HP:0012579,MONDO:MONDO:0006835,MedGen:C0027721 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B Inherited focal segmental glomerulosclerosis mondo_mondo_0005363_medgen_cn327126_omim_ps603278 MONDO:MONDO:0005363,MedGen:CN327126,OMIM:PS603278 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B Autosomal recessive Alport syndrome mondo_mondo_0008762_medgen_c4746745_omim_203780_orphanet_63_orphanet_88919 MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMOD3 LMOD3-related disorder lmod3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMOD2 Familial isolated dilated cardiomyopathy mondo_mondo_0700335_medgen_c5679590_orphanet_154 MONDO:MONDO:0700335,MedGen:C5679590,Orphanet:154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMOD1 Visceral myopathy 1 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB2 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB2 Progressive myoclonic epilepsy type 9 mondo_mondo_0014685_medgen_c4225289_omim_616540_orphanet_457265 MONDO:MONDO:0014685,MedGen:C4225289,OMIM:616540,Orphanet:457265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB2 LMNB2-related disorder lmnb2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNB1 LMNB1-related primary microcephaly lmnb1_related_primary_microcephaly . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Sudden unexplained death medgen_c0520806 MedGen:C0520806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Sick sinus syndrome human_phenotype_ontology_hp_0011704_mondo_mondo_0001823_medgen_c0037052 Human_Phenotype_Ontology:HP:0011704,MONDO:MONDO:0001823,MedGen:C0037052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Right ventricular cardiomyopathy human_phenotype_ontology_hp_0011663_medgen_c2063326 Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Proximal muscle weakness human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Neuronopathy, distal hereditary motor, autosomal dominant mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Left ventricular noncompaction human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA LMNA-associated condition lmna_associated_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Familial partial lipodystrophy mondo_mondo_0020088_medgen_c0271694_omim_ps151660_orphanet_98306 MONDO:MONDO:0020088,MedGen:C0271694,OMIM:PS151660,Orphanet:98306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Emery-Dreifuss muscular dystrophy mondo_mondo_0016830_medgen_c0410189_omim_ps310300_orphanet_261 MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Early onset multivalvular disease early_onset_multivalvular_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Dilated cardiomyopathy 1D mondo_mondo_0011095_medgen_c1832243_omim_601494_orphanet_154_orphanet_54260 MONDO:MONDO:0011095,MedGen:C1832243,OMIM:601494,Orphanet:154,Orphanet:54260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Conduction system disorder efo_efo_0005137_mondo_mondo_0005449_medgen_c2748542 EFO:EFO_0005137,MONDO:MONDO:0005449,MedGen:C2748542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Bethlem myopathy 1A mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Autosomal recessive limb-girdle muscular dystrophy type 2B mondo_mondo_0009676_medgen_c1850889_omim_253601_orphanet_268 MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMF1 LMF1-related disorder lmf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 brain structure abnormalities brain_structure_abnormalities . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 Dysmorphic features medgen_c0432072 MedGen:C0432072 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD2 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD1 Disorders of Intracellular Cobalamin Metabolism disorders_of_intracellular_cobalamin_metabolism MedGen:CN043592 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 Syndactyly type 4 mondo_mondo_0008515_medgen_c1861355_omim_186200_orphanet_93405 MONDO:MONDO:0008515,MedGen:C1861355,OMIM:186200,Orphanet:93405 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 SHH-related disorder shh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 Laurin-Sandrow syndrome mondo_mondo_0007615_medgen_c1851100_omim_135750_orphanet_2378 MONDO:MONDO:0007615,MedGen:C1851100,OMIM:135750,Orphanet:2378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBR1 Acheiropodia mondo_mondo_0008700_medgen_c0265559_omim_200500_orphanet_931 MONDO:MONDO:0008700,MedGen:C0265559,OMIM:200500,Orphanet:931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMAN2L Intellectual developmental disorder, autosomal dominant 69 mondo_mondo_0029465_medgen_c5676896_omim_617863 MONDO:MONDO:0029465,MedGen:C5676896,OMIM:617863 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMAN1 Retinitis pigmentosa 7 mondo_mondo_0011974_medgen_c1842475_omim_608133_orphanet_791 MONDO:MONDO:0011974,MedGen:C1842475,OMIM:608133,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMAN1 LMAN1-related disorder lman1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LITAF Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LITAF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPT2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPH Hypotrichosis simplex mondo_mondo_0018914_mesh_c537160_medgen_c1854310_orphanet_55654 MONDO:MONDO:0018914,MeSH:C537160,MedGen:C1854310,Orphanet:55654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPE condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LINS1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LINS1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIMK1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIMK1 Undetermined early-onset epileptic encephalopathy mondo_mondo_0018614_medgen_c5680057_orphanet_442835 MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIM2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIM2 LIM2-related disorder lim2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIM2 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG4 Papillary thyroid carcinoma human_phenotype_ontology_hp_0002895_mondo_mondo_0005075_mesh_d000077273_medgen_c0238463_orphanet_146 Human_Phenotype_Ontology:HP:0002895,MONDO:MONDO:0005075,MeSH:D000077273,MedGen:C0238463,Orphanet:146 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIFR Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIAS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX2 Variable neurodevelopmental disorder variable_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX2 LHX2-associated neurodevelopmental disorder lhx2_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 LHFPL5-related disorder lhfpl5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHFPL5 Autosomal recessive non-syndromic intellectual disability mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Pseudohermaphroditism mondo_mondo_0005518_medgen_c0033804 MONDO:MONDO:0005518,MedGen:C0033804 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Leydig hypoplasia, type I medgen_c4016252 MedGen:C4016252 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Leydig cell adenoma, somatic, with male-limited precocious puberty medgen_c2674612 MedGen:C2674612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Disorder of sexual differentiation mondo_mondo_0002145_medgen_c2930619_orphanet_90771 MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI4 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI4 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI4 Arthrogryposis multiplex congenita 2, neurogenic type mondo_mondo_0008823_medgen_c5435650_omim_208100_orphanet_1143 MONDO:MONDO:0008823,MedGen:C5435650,OMIM:208100,Orphanet:1143 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI4 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI1 Genitopatellar syndrome mondo_mondo_0011640_medgen_c1853566_omim_606170_orphanet_85201 MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LFNG Spondylocostal dysostosis 2, autosomal recessive mondo_mondo_0012097_medgen_c1837549_omim_608681_orphanet_2311 MONDO:MONDO:0012097,MedGen:C1837549,OMIM:608681,Orphanet:2311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LETM1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEPR Obesity due to congenital leptin deficiency mondo_mondo_0013991_medgen_c3554224_omim_614962_orphanet_66628 MONDO:MONDO:0013991,MedGen:C3554224,OMIM:614962,Orphanet:66628 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEPR Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEPR Early onset severe obesity medgen_c4013980 MedGen:C4013980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEP LEP-related disorder lep_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEO1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD3 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD2 Marbach-Rustad progeroid syndrome mondo_mondo_0859147_medgen_c5543388_omim_619322_orphanet_659873 MONDO:MONDO:0859147,MedGen:C5543388,OMIM:619322,Orphanet:659873 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEMD2 Cataract 46 juvenile-onset mondo_mondo_0008925_medgen_c0220721_omim_212500_orphanet_91492 MONDO:MONDO:0008925,MedGen:C0220721,OMIM:212500,Orphanet:91492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LEF1 Ectrodactyly and ectodermal dysplasia without cleft lip/palate mondo_mondo_0007516_medgen_c1851849_omim_129810 MONDO:MONDO:0007516,MedGen:C1851849,OMIM:129810 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLRAP1 Autosomal recessive inheritance human_phenotype_ontology_hp_0000007_medgen_c0441748 Human_Phenotype_Ontology:HP:0000007,MedGen:C0441748 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLRAD2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLRAD2 Lethal Kniest-like syndrome mondo_mondo_0009140_medgen_c1857100_omim_224410_orphanet_1865 MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Syndromic X-linked intellectual disability Najm type mondo_mondo_0010417_medgen_c2677903_omim_300749_orphanet_163937 MONDO:MONDO:0010417,MedGen:C2677903,OMIM:300749,Orphanet:163937 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR LDLR-related familial hypercholesterolemia ldlr_related_familial_hypercholesterolemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Hypercholesterolemia, autosomal dominant, type B mondo_mondo_0007751_medgen_c1704417_omim_144010 MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 Myofibrillar myopathy human_phenotype_ontology_hp_0003715_mondo_mondo_0018943_medgen_c2678065_omim_ps601419_orphanet_593 Human_Phenotype_Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419,Orphanet:593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 LDB3-related disorder ldb3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCP2 Immunodeficiency 81 mondo_mondo_0030302_medgen_c5543540_omim_619374 MONDO:MONDO:0030302,MedGen:C5543540,OMIM:619374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCP1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCK Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 Polycystic liver disease 2 mondo_mondo_0014860_medgen_c4310769_omim_617004_orphanet_2924 MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 Leber congenital amaurosis 1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 LCA5-related disorder lca5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBX1 Central hypoventilation syndrome, congenital, 3 mondo_mondo_0030539_medgen_c5561964_omim_619483 MONDO:MONDO:0030539,MedGen:C5561964,OMIM:619483 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LBHD1 Mitochondrial complex III deficiency nuclear type 9 mondo_mondo_0014496_medgen_c4015253_omim_616111 MONDO:MONDO:0014496,MedGen:C4015253,OMIM:616111 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LATS2 Malignant peritoneal mesothelioma human_phenotype_ontology_hp_0100003_mondo_mondo_0005512_medgen_c0346109_orphanet_168811 Human_Phenotype_Ontology:HP:0100003,MONDO:MONDO:0005512,MedGen:C0346109,Orphanet:168811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LATS1 Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LATS1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LATS1 Malignant peritoneal mesothelioma human_phenotype_ontology_hp_0100003_mondo_mondo_0005512_medgen_c0346109_orphanet_168811 Human_Phenotype_Ontology:HP:0100003,MONDO:MONDO:0005512,MedGen:C0346109,Orphanet:168811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAS1L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAS1L Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 Inborn mitochondrial myopathy human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS1 LARS1-related disorder lars1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARP7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARP7 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARP7 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARP4B Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARGE2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARGE2 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures mondo_mondo_0032883_medgen_c5231476_omim_618725 MONDO:MONDO:0032883,MedGen:C5231476,OMIM:618725 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARGE1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARGE1 LARGE1-related disorder large1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARGE1 LARGE1-Related Disorders large1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 Isolated Noncompaction of the Ventricular Myocardium mesh_d056830_medgen_c2717907 MeSH:D056830,MedGen:C2717907 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC3 LAMC3-related disorder lamc3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC2 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 Epidermolysis bullosa simplex 1A, generalized severe mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB2 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB2 Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB1 Multiple sclerosis mondo_mondo_0005301_medgen_c0026769 MONDO:MONDO:0005301,MedGen:C0026769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB1 LAMB1-related disorder lamb1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA5 LAMA5-related disorder lama5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA5 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 LAMA3-related junctional epidermolysis bullosa lama3_related_junctional_epidermolysis_bullosa . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Proximal muscle weakness human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Myalgia human_phenotype_ontology_hp_0003326_human_phenotype_ontology_hp_0003718_medgen_c0231528 Human_Phenotype_Ontology:HP:0003326,Human_Phenotype_Ontology:HP:0003718,MedGen:C0231528 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient muscular_dystrophy_congenital_merosin_deficient_or_partially_deficient . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Exercise-induced myalgia human_phenotype_ontology_hp_0003738_medgen_c1850830 Human_Phenotype_Ontology:HP:0003738,MedGen:C1850830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LACTB Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L3MBTL2 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L3MBTL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L3HYPDH JKAMP-related neurodevelopmental disorder jkamp_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L3HYPDH JKAMP neurodevelopmental disorder jkamp_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence L2HGDH L2HGDH-related disorder l2hgdh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L2HGDH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L2HGDH Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Severe hydrocephalus human_phenotype_ontology_hp_0006882_medgen_c3278123 Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Muscular dystrophy, limb-girdle, autosomal recessive 23 mondo_mondo_0029136_medgen_c4748327_omim_618138_orphanet_565837 MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Hydrops fetalis human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction medgen_c1844006 MedGen:C1844006 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KYNU Hydroxykynureninuria mondo_mondo_0009372_medgen_c0268474_omim_236800_orphanet_79155 MONDO:MONDO:0009372,MedGen:C0268474,OMIM:236800,Orphanet:79155 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KY Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRTCAP3 Short-rib thoracic dysplasia 10 without polydactyly medgen_c4017084 MedGen:C4017084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRTCAP3 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT9 Palmoplantar keratodermas palmoplantar_keratodermas . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT9 Palmoplantar keratoderma human_phenotype_ontology_hp_0000982_medgen_c4551675 Human_Phenotype_Ontology:HP:0000982,MedGen:C4551675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT86 Monilethrix-1 mondo_mondo_0700343_medgen_c6012688_omim_158000 MONDO:MONDO:0700343,MedGen:C6012688,OMIM:158000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT85 Ectodermal dysplasia 4, hair/nail type mondo_mondo_0011177_medgen_c4024880_omim_602032_orphanet_69084 MONDO:MONDO:0011177,MedGen:C4024880,OMIM:602032,Orphanet:69084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT83 Monilethrix human_phenotype_ontology_hp_0032470_mondo_mondo_0008009_medgen_c0546966_omim_ps158000_orphanet_573 Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:PS158000,Orphanet:573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT74 Hypotrichosis 3 mondo_mondo_0013514_medgen_c3151432_omim_613981_orphanet_90368 MONDO:MONDO:0013514,MedGen:C3151432,OMIM:613981,Orphanet:90368 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT71 Hypotrichosis 13 mondo_mondo_0014390_medgen_c4014616_omim_615896_orphanet_170 MONDO:MONDO:0014390,MedGen:C4014616,OMIM:615896,Orphanet:170 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse mondo_mondo_0014327_medgen_c3810394_omim_615735_orphanet_402003 MONDO:MONDO:0014327,MedGen:C3810394,OMIM:615735,Orphanet:402003 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive mondo_mondo_0010976_medgen_c3715082_omim_601001_orphanet_89838 MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE epidermolysis_bullosa_simplex_2d_generalized_intermediate_autosomal_recessive . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT25 Hypotrichosis 8 mondo_mondo_0010206_medgen_c3279470_omim_278150_orphanet_55654 MONDO:MONDO:0010206,MedGen:C3279470,OMIM:278150,Orphanet:55654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT25 Autosomal Recessive Hypotrichosis with Woolly Hair autosomal_recessive_hypotrichosis_with_woolly_hair . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT2 Exfoliative ichthyosis mondo_mondo_0017339_medgen_c1838440_orphanet_289586 MONDO:MONDO:0017339,MedGen:C1838440,Orphanet:289586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT17 Nonsyndromic congenital nail disorder 4 mondo_mondo_0008798_medgen_c3277900_omim_206800_orphanet_79143_orphanet_94150 MONDO:MONDO:0008798,MedGen:C3277900,OMIM:206800,Orphanet:79143,Orphanet:94150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT17 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT17 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT16 KRT16-related disorder krt16_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Skin fragility with non-scarring blistering human_phenotype_ontology_hp_0007585_medgen_c1851562 Human_Phenotype_Ontology:HP:0007585,MedGen:C1851562 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Sjögren-Larsson syndrome mondo_mondo_0010031_medgen_c0037231_omim_270200_orphanet_816 MONDO:MONDO:0010031,MedGen:C0037231,OMIM:270200,Orphanet:816 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Palmoplantar blistering human_phenotype_ontology_hp_0007446_medgen_c4024876 Human_Phenotype_Ontology:HP:0007446,MedGen:C4024876 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 HP:0000750; HP:0001263 hp_0000750_hp_0001263 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT14 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Ichthyosis, annular epidermolytic 1 mondo_mondo_0100303_medgen_cn324065_omim_607602 MONDO:MONDO:0100303,MedGen:CN324065,OMIM:607602 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Ichthyosis hystrix gravior mondo_mondo_0007809_medgen_c0432311_omim_146600 MONDO:MONDO:0007809,MedGen:C0432311,OMIM:146600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Epidermolytic nevus mondo_mondo_0044656_medgen_c1302848_orphanet_497737 MONDO:MONDO:0044656,MedGen:C1302848,Orphanet:497737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Epidermolytic acanthoma mondo_mondo_0002962_medgen_c1333414 MONDO:MONDO:0002962,MedGen:C1333414 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Epidermolysis bullosa simplex 1A, generalized severe mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT10 Autosomal dominant epidermolytic ichthyosis mondo_mondo_0020702_medgen_cn377632_orphanet_312 MONDO:MONDO:0020702,MedGen:CN377632,Orphanet:312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Palmoplantar keratoderma, epidermolytic human_phenotype_ontology_hp_0007559_mondo_mondo_0968949_medgen_c1721006_omim_ps144200 Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT1 Congenital reticular ichthyosiform erythroderma mondo_mondo_0012208_medgen_c3665704_omim_609165_orphanet_281190 MONDO:MONDO:0012208,MedGen:C3665704,OMIM:609165,Orphanet:281190 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations medgen_c1861786 MedGen:C1861786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 Abnormal cerebral vascular morphology human_phenotype_ontology_hp_0100659_medgen_c4022001 Human_Phenotype_Ontology:HP:0100659,MedGen:C4022001 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KREMEN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KREMEN1 Ectodermal dysplasia 13, hair/tooth type mondo_mondo_0044305_medgen_c4479322_omim_617392 MONDO:MONDO:0044305,MedGen:C4479322,OMIM:617392 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Venous malformation human_phenotype_ontology_hp_0012721_medgen_c2937220 Human_Phenotype_Ontology:HP:0012721,MedGen:C2937220 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Vascular Tumors Including Pyogenic Granuloma vascular_tumors_including_pyogenic_granuloma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Thyroid cancer, nonmedullary, 1 mondo_mondo_0008567_medgen_c4721429_omim_188550 MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Squamous cell lung carcinoma human_phenotype_ontology_hp_0030359_mondo_mondo_0005097_medgen_c0149782 Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Prostate cancer, hereditary, 1 mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Primary low grade serous adenocarcinoma of ovary medgen_c4302356 MedGen:C4302356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Pilocytic astrocytoma human_phenotype_ontology_hp_0033680_mondo_mondo_0016691_medgen_c0334583_orphanet_251612 Human_Phenotype_Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Mosaic KRAS-related syndrome mosaic_kras_related_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Lung sarcomatoid carcinoma mondo_mondo_0006279_medgen_c1708781 MONDO:MONDO:0006279,MedGen:C1708781 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS KRAS-related RASopathy kras_related_rasopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Hereditary diffuse gastric adenocarcinoma mondo_mondo_0007648_medgen_c1708349_omim_137215_orphanet_26106 MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Epidermal nevus human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Endometrial hyperplasia without atypia mondo_mondo_0006193_medgen_c1516855 MONDO:MONDO:0006193,MedGen:C1516855 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Congenital Pulmonary Airway Malformations congenital_pulmonary_airway_malformations . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Chronic myelogenous leukemia, BCR-ABL1 positive human_phenotype_ontology_hp_0005506_human_phenotype_ontology_hp_0005544_mondo_mondo_0011996_mesh_d015464_medgen_c0279543_omim_608232_orphanet_521 Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Cardiofaciocutaneous syndrome 1 mondo_mondo_0007265_medgen_cn029449_omim_115150_orphanet_1340 MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Capillary malformation-arteriovenous malformation 1 mondo_mondo_0020783_medgen_c4747394_omim_608354_orphanet_137667 MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Capillary Telangiectasia, Brain capillary_telangiectasia_brain . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Breast adenocarcinoma mondo_mondo_0004988_medgen_c0858252 MONDO:MONDO:0004988,MedGen:C0858252 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Bladder cancer, transitional cell, somatic medgen_c4016403 MedGen:C4016403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Atypical endometrial hyperplasia mondo_mondo_0006096_medgen_c0349579 MONDO:MONDO:0006096,MedGen:C0349579 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNSTRN Combined immunodeficiency with faciooculoskeletal anomalies mondo_mondo_0013226_medgen_c2750068_omim_613328_orphanet_221139 MONDO:MONDO:0013226,MedGen:C2750068,OMIM:613328,Orphanet:221139 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNL1 KNL1-related disorder knl1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KNG1 KININOGEN DEFICIENCY, TOTAL medgen_c1856719 MedGen:C1856719 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B Neural tube defect human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B KMT5B-related disorder kmt5b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Vein of Galen aneurysmal malformation human_phenotype_ontology_hp_0030713_mondo_mondo_0015196_medgen_c0431420_orphanet_1053 Human_Phenotype_Ontology:HP:0030713,MONDO:MONDO:0015196,MedGen:C0431420,Orphanet:1053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Smith-Magenis Syndrome-like smith_magenis_syndrome_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Rubinstein Taybi like syndrome mondo_mondo_0043195_medgen_c2931052 MONDO:MONDO:0043195,MedGen:C2931052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Complement component C1s deficiency mondo_mondo_0013419_medgen_c3151078_omim_613783 MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D CHARGE syndrome mondo_mondo_0008965_medgen_c0265354_orphanet_138 MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Autism spectrum disorder due to AUTS2 deficiency mondo_mondo_0014361_medgen_c4014435_omim_615834_orphanet_352490 MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Kleefstra syndrome due to a point mutation mondo_mondo_0016865_medgen_c5680724_orphanet_261652 MONDO:MONDO:0016865,MedGen:C5680724,Orphanet:261652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Kleefstra syndrome 1 mondo_mondo_0027407_medgen_c0795833_omim_610253_orphanet_261494 MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Kleefstra syndrome mondo_mondo_0012455_medgen_c4551771_omim_ps610253_orphanet_261494 MONDO:MONDO:0012455,MedGen:C4551771,OMIM:PS610253,Orphanet:261494 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Myoclonus human_phenotype_ontology_hp_0001336_human_phenotype_ontology_hp_0002535_human_phenotype_ontology_hp_0007087_medgen_c0027066 Human_Phenotype_Ontology:HP:0001336,Human_Phenotype_Ontology:HP:0002535,Human_Phenotype_Ontology:HP:0007087,MedGen:C0027066 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Generalized dystonia human_phenotype_ontology_hp_0007325_mondo_mondo_0000476_medgen_c1848954_orphanet_376724 Human_Phenotype_Ontology:HP:0007325,MONDO:MONDO:0000476,MedGen:C1848954,Orphanet:376724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Rubinstein Taybi like syndrome mondo_mondo_0043195_medgen_c2931052 MONDO:MONDO:0043195,MedGen:C2931052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Kabuki syndrome 1 mondo_mondo_0007843_medgen_cn030661_omim_147920_orphanet_2322 MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Hirsutism human_phenotype_ontology_hp_0001007_medgen_c0019572 Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Cornelia de Lange syndrome 1 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLK11 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Distal arthrogryposis human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL7 Bohring-Opitz syndrome mondo_mondo_0011510_medgen_c0796232_omim_605039_orphanet_97297 MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL41 Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL41 KLHL41-related disorder klhl41_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL40 KLHL40-related disorder klhl40_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL3 Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL3 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL24 KLHL24-related disorder klhl24_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL20 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL20 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL20 KLHL20-related disorder klhl20_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL20 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL20 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL17 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL15 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL15 Intellectual disability, X-linked 103 mondo_mondo_0010508_medgen_c4310818_omim_300982 MONDO:MONDO:0010508,MedGen:C4310818,OMIM:300982 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL15 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL10 Spermatogenic failure 11 mondo_mondo_0014037_medgen_c3554453_omim_615081 MONDO:MONDO:0014037,MedGen:C3554453,OMIM:615081 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHDC2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHDC2 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy mondo_mondo_0030849_medgen_c5436813_omim_619099 MONDO:MONDO:0030849,MedGen:C5436813,OMIM:619099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF7 intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF7 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF7 KLF7-related disorder klf7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF6 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF5 Dilated cardiomyopathy 1FF mondo_mondo_0013211_medgen_c2750091_omim_613286_orphanet_154 MONDO:MONDO:0013211,MedGen:C2750091,OMIM:613286,Orphanet:154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF2 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLF1 Glutaric aciduria, type 1 mondo_mondo_0009281_medgen_c0268595_omim_231670_orphanet_25 MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLC4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLC4 Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy mondo_mondo_0700288_medgen_c6012705_omim_621129 MONDO:MONDO:0700288,MedGen:C6012705,OMIM:621129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLC2 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLC2 Spastic paraplegia, optic atropy, and neuropathy mondo_mondo_0012297_medgen_c1836010_omim_609541_orphanet_320406 MONDO:MONDO:0012297,MedGen:C1836010,OMIM:609541,Orphanet:320406 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLB Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIZ Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures mondo_mondo_0060578_medgen_c4540192_omim_617710_orphanet_572798 MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIZ KIZ-related disorder kiz_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KITLG Autosomal dominant nonsyndromic hearing loss 69 mondo_mondo_0014738_medgen_c4225241_omim_616697_orphanet_90635 MONDO:MONDO:0014738,MedGen:C4225241,OMIM:616697,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Piebaldism, progressive medgen_c4016297 MedGen:C4016297 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Piebaldism with sensorineural deafness medgen_c4016294 MedGen:C4016294 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Mastocytosis human_phenotype_ontology_hp_0100495_mondo_mondo_0007950_medgen_c0024899_orphanet_98292 Human_Phenotype_Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orphanet:98292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Germ cell tumor of testis mondo_mondo_0010108_medgen_c1336708_omim_273300_orphanet_363504 MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Dysgerminoma human_phenotype_ontology_hp_0100621_mondo_mondo_0003002_medgen_c0013377 Human_Phenotype_Ontology:HP:0100621,MONDO:MONDO:0003002,MedGen:C0013377 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged medgen_c2698309 MedGen:C2698309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Autosomal dominant KIT-related disorders autosomal_dominant_kit_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1R Urogenital tract malformation human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1R Pituitary stalk interruption syndrome mondo_mondo_0019828_medgen_c4053775_orphanet_95496 MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1R KISS1R-related disorder kiss1r_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia mondo_mondo_0013910_medgen_c3553841_omim_614837_orphanet_478 MONDO:MONDO:0013910,MedGen:C3553841,OMIM:614837,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1R Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KISS1R Central precocious puberty 1 mondo_mondo_0008302_medgen_c3805879_omim_176400_orphanet_759 MONDO:MONDO:0008302,MedGen:C3805879,OMIM:176400,Orphanet:759 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIRREL3 Intellectual disability, autosomal dominant 4 mondo_mondo_0012947_medgen_c2675487_omim_612581 MONDO:MONDO:0012947,MedGen:C2675487,OMIM:612581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIRREL2 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIRREL2 NPHS1-related disorder nphs1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIRREL2 Infantile Nephrotic syndrome infantile_nephrotic_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIFBP KIFBP-related disorder kifbp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 Orofacial cleft 1 mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 JOUBERT SYNDROME 12/15, DIGENIC medgen_c3280899 MedGen:C3280899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5C Cortical dysplasia human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Skeletal myopathy human_phenotype_ontology_hp_0003756_mondo_mondo_0020120_medgen_c1533847_orphanet_98472 Human_Phenotype_Ontology:HP:0003756,MONDO:MONDO:0020120,MedGen:C1533847,Orphanet:98472 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Severe muscular hypotonia human_phenotype_ontology_hp_0002347_human_phenotype_ontology_hp_0006829_medgen_c1839630 Human_Phenotype_Ontology:HP:0002347,Human_Phenotype_Ontology:HP:0006829,MedGen:C1839630 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Ophthalmoplegia human_phenotype_ontology_hp_0000602_mondo_mondo_0003425_medgen_c0029089 Human_Phenotype_Ontology:HP:0000602,MONDO:MONDO:0003425,MedGen:C0029089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Multiple joint contractures human_phenotype_ontology_hp_0002828_medgen_c0158118 Human_Phenotype_Ontology:HP:0002828,MedGen:C0158118 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Feeding difficulties in infancy human_phenotype_ontology_hp_0002016_human_phenotype_ontology_hp_0002022_human_phenotype_ontology_hp_0002568_human_phenotype_ontology_hp_0008872_medgen_c2674608 Human_Phenotype_Ontology:HP:0002016,Human_Phenotype_Ontology:HP:0002022,Human_Phenotype_Ontology:HP:0002568,Human_Phenotype_Ontology:HP:0008872,MedGen:C2674608 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Fatigable weakness of swallowing muscles human_phenotype_ontology_hp_0030195_medgen_c4022588 Human_Phenotype_Ontology:HP:0030195,MedGen:C4022588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Brain atrophy human_phenotype_ontology_hp_0012444_medgen_c4551584 Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5B Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Demyelinating peripheral neuropathy human_phenotype_ontology_hp_0007108_human_phenotype_ontology_hp_0007205_mondo_mondo_0003334_medgen_c0270922 Human_Phenotype_Ontology:HP:0007108,Human_Phenotype_Ontology:HP:0007205,MONDO:MONDO:0003334,MedGen:C0270922 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF4A Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF4A Multicystic kidney dysplasia human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF4A Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF4A Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF4A Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF2A Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF26B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF24 Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF23 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF23 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF21A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF21A Abnormality of eye movement human_phenotype_ontology_hp_0000496_human_phenotype_ontology_hp_0006860_medgen_c0497202 Human_Phenotype_Ontology:HP:0000496,Human_Phenotype_Ontology:HP:0006860,MedGen:C0497202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1C Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1C Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1C Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1C Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1C Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Lower limb hyperreflexia human_phenotype_ontology_hp_0002395_human_phenotype_ontology_hp_0007245_human_phenotype_ontology_hp_0007288_medgen_c1836696 Human_Phenotype_Ontology:HP:0002395,Human_Phenotype_Ontology:HP:0007245,Human_Phenotype_Ontology:HP:0007288,MedGen:C1836696 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Hyperreflexia human_phenotype_ontology_hp_0001282_human_phenotype_ontology_hp_0001347_human_phenotype_ontology_hp_0006820_human_phenotype_ontology_hp_0007184_human_phenotype_ontology_hp_0007318_mondo_mondo_0007774_medgen_c0151889_omim_145290 Human_Phenotype_Ontology:HP:0001282,Human_Phenotype_Ontology:HP:0001347,Human_Phenotype_Ontology:HP:0006820,Human_Phenotype_Ontology:HP:0007184,Human_Phenotype_Ontology:HP:0007318,MONDO:MONDO:0007774,MedGen:C0151889,OMIM:145290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Clonus human_phenotype_ontology_hp_0002169_medgen_c0009024 Human_Phenotype_Ontology:HP:0002169,MedGen:C0009024 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF19 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF14 KIF14-related disorder kif14_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Syndromic retinitis pigmentosa medgen_c5680332_orphanet_98661 MedGen:C5680332,Orphanet:98661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Retinal dysplasia human_phenotype_ontology_hp_0007973_human_phenotype_ontology_hp_0008022_medgen_c0035313 Human_Phenotype_Ontology:HP:0007973,Human_Phenotype_Ontology:HP:0008022,MedGen:C0035313 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) microcephaly_with_or_without_chorioretinopathy_lymphedema_or_intellectual_disability_mclid . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Microcephaly and chorioretinopathy 1 mondo_mondo_0009624_medgen_c3278481_omim_251270 MONDO:MONDO:0009624,MedGen:C3278481,OMIM:251270 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Lymphedema human_phenotype_ontology_hp_0001004_human_phenotype_ontology_hp_0003605_mondo_mondo_0019297_medgen_c0024236 Human_Phenotype_Ontology:HP:0001004,Human_Phenotype_Ontology:HP:0003605,MONDO:MONDO:0019297,MedGen:C0024236 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIDINS220 KCNA1-related disorder kcna1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIDINS220 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIDINS220 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA1549 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA1549 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0825 Polydactyly, postaxial, type A1 mondo_mondo_0008266_medgen_c4282400_omim_174200 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0825 Autosomal recessive nonsyndromic postaxial polydactyly autosomal_recessive_nonsyndromic_postaxial_polydactyly . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0753 KIAA0753-related disorder kiaa0753_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Speech and developmental delay speech_and_developmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KHK Essential fructosuria mondo_mondo_0009252_medgen_c0268160_omim_229800_orphanet_2056 MONDO:MONDO:0009252,MedGen:C0268160,OMIM:229800,Orphanet:2056 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KHDRBS1 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KHDC3L KHDC3L-related condition khdc3l_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KERA KERA-related disorder kera_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KEL Kell blood group system medgen_c0022546_omim_110900 MedGen:C0022546,OMIM:110900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KEL KELL-NULL PHENOTYPE kell_null_phenotype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDR Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDR Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDR Capillary infantile hemangioma mondo_mondo_0011191_medgen_c1865871_omim_602089 MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6B Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6B Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6B KDM6B-related neurodevelopmental disorder kdm6b_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A Tremor, hereditary essential, 6 mondo_mondo_0030027_medgen_c5394329_omim_618866 MONDO:MONDO:0030027,MedGen:C5394329,OMIM:618866 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Kabuki syndrome mondo_mondo_0016512_medgen_c0796004_omim_ps147920_orphanet_2322 MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Hirsutism human_phenotype_ontology_hp_0001007_medgen_c0019572 Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5B Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM4B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM4B Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B Rare genetic epilepsy medgen_c5680564_orphanet_183512 MedGen:C5680564,Orphanet:183512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM3B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM2B KDM2B-related syndrome kdm2b_related_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM2B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM2A KDM2A related condition kdm2a_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM1A Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDF1 Hypodontia human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDF1 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type mondo_mondo_0015024_medgen_c4310616_omim_617337 MONDO:MONDO:0015024,MedGen:C4310616,OMIM:617337 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 Progressive myoclonic epilepsy mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 KCTD7-related disorder kctd7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 Epilepsy, progressive myoclonic, 3, with intracellular inclusions medgen_c4017260 MedGen:C4017260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD19 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD17 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 Stargardt disease mondo_mondo_0019353_medgen_c0271093_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 Progressive cone dystrophy (without rod involvement) medgen_c0271092 MedGen:C0271092 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 KCNT1-related channelopathy kcnt1_related_channelopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Epilepsy syndrome mondo_mondo_0015650_medgen_c4505072_orphanet_166463 MONDO:MONDO:0015650,MedGen:C4505072,Orphanet:166463 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Developmental and epileptic encephalopathy, 15 mondo_mondo_0014003_medgen_c3554316_omim_615006_orphanet_3451 MONDO:MONDO:0014003,MedGen:C3554316,OMIM:615006,Orphanet:3451 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Childhood-onset epilepsy syndrome mondo_mondo_0020072_medgen_c5681526_orphanet_98259 MONDO:MONDO:0020072,MedGen:C5681526,Orphanet:98259 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Autosomal dominant nocturnal frontal lobe epilepsy 1 mondo_mondo_0010899_medgen_c1838049_omim_600513_orphanet_98784 MONDO:MONDO:0010899,MedGen:C1838049,OMIM:600513,Orphanet:98784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ5 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ4 KCNQ4-related disorder kcnq4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ4 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ4 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Severe neurodevelopmental delay severe_neurodevelopmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Seizures, benign familial infantile, 5 mondo_mondo_0014903_medgen_c4310728_omim_617080_orphanet_306 MONDO:MONDO:0014903,MedGen:C4310728,OMIM:617080,Orphanet:306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Lennox-Gastaut syndrome mondo_mondo_0016532_medgen_c0238111_orphanet_2382 MONDO:MONDO:0016532,MedGen:C0238111,Orphanet:2382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 KCNQ3-related developmental disability kcnq3_related_developmental_disability MedGen:CN868255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 KCNQ3-related Autism and developmental disability kcnq3_related_autism_and_developmental_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Severe intellectual deficiency severe_intellectual_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Neonatal/infantile epilepsy syndrome mondo_mondo_0100022_medgen_cn378700_orphanet_693802 MONDO:MONDO:0100022,MedGen:CN378700,Orphanet:693802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Limb dystonia human_phenotype_ontology_hp_0002451_medgen_c0751093 Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Epilepsy, benign neonatal, 1, and/or myokymia epilepsy_benign_neonatal_1_and_or_myokymia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Benign Rolandic epilepsy medgen_c2363129_omim_117100_orphanet_1945 MedGen:C2363129,OMIM:117100,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Autosomal recessive congenital ichthyosis 10 mondo_mondo_0014011_medgen_c3554355_omim_615024_orphanet_79394 MONDO:MONDO:0014011,MedGen:C3554355,OMIM:615024,Orphanet:79394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Autosomal dominant epilepsy autosomal_dominant_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Silver-Russell syndrome 1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Short QT syndrome type 2 mondo_mondo_0012313_medgen_c1865019_omim_609621_orphanet_51083 MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 KCNQ1-related epilepsy kcnq1_related_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1OT1 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Silver-Russell syndrome 1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Short QT syndrome type 1 mondo_mondo_0012312_medgen_c1865020_omim_609620_orphanet_51083 MONDO:MONDO:0012312,MedGen:C1865020,OMIM:609620,Orphanet:51083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Recurrent spontaneous abortion human_phenotype_ontology_hp_0200067_medgen_c3279439 Human_Phenotype_Ontology:HP:0200067,MedGen:C3279439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Prolonged QT interval human_phenotype_ontology_hp_0001657_medgen_c0151878 Human_Phenotype_Ontology:HP:0001657,MedGen:C0151878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Long QT syndrome 2 mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 KCQ1-related disorders kcq1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 KCNQ1-related epilepsy kcnq1_related_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Abnormality of the cardiovascular system human_phenotype_ontology_hp_0001626_medgen_c0243050 Human_Phenotype_Ontology:HP:0001626,MedGen:C0243050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN4 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema mondo_mondo_0008689_medgen_c4551512_omim_194380_orphanet_3202 MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 KCNN2-related disorder kcnn2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNN2 Dyskinesia human_phenotype_ontology_hp_0100660_medgen_c0013384 Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 Autosomal dominant KCNMA1-related disorders autosomal_dominant_kcnma1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK3 Pulmonary hypertension, primary, 1 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK3 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK18 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK18 Migraine, with or without aura, susceptibility to, 13 mondo_mondo_0013344_medgen_c4225479_omim_613656 MONDO:MONDO:0013344,MedGen:C4225479,OMIM:613656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK18 KCNK18-related neurodevelopmental disorder kcnk18_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNK17 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ8 Hypertrichotic osteochondrodysplasia Cantu type mondo_mondo_0009406_medgen_c0795905_omim_239850_orphanet_1517 MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ6 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ5 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ5 Andersen Tawil syndrome mondo_mondo_0008222_medgen_c1563715_omim_170390_orphanet_37553 MONDO:MONDO:0008222,MedGen:C1563715,OMIM:170390,Orphanet:37553 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Ventricular tachycardia efo_the_experimental_factor_ontology_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 EFO:_The_Experimental_Factor_Ontology:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Supraventricular tachycardia human_phenotype_ontology_hp_0004755_medgen_c0039240 Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Short QT syndrome type 1 mondo_mondo_0012312_medgen_c1865020_omim_609620_orphanet_51083 MONDO:MONDO:0012312,MedGen:C1865020,OMIM:609620,Orphanet:51083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Short QT syndrome mondo_mondo_0000453_medgen_c2348199_omim_ps609620_orphanet_51083 MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 KCNJ2-related disorder kcnj2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Familial periodic paralysis mondo_mondo_0000995_medgen_c0030443_orphanet_371433 MONDO:MONDO:0000995,MedGen:C0030443,Orphanet:371433 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Atrial fibrillation, familial, 1 mondo_mondo_0012066_medgen_c1843687_omim_608583 MONDO:MONDO:0012066,MedGen:C1843687,OMIM:608583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ16 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ13 Snowflake vitreoretinal degeneration human_phenotype_ontology_hp_0011533_mondo_mondo_0008663_medgen_c1860405_omim_193230_orphanet_91496 Human_Phenotype_Ontology:HP:0011533,MONDO:MONDO:0008663,MedGen:C1860405,OMIM:193230,Orphanet:91496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ13 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ13 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Hypoglycemia human_phenotype_ontology_hp_0001943_human_phenotype_ontology_hp_0003356_mondo_mondo_0004946_medgen_c0020615 Human_Phenotype_Ontology:HP:0001943,Human_Phenotype_Ontology:HP:0003356,MONDO:MONDO:0004946,MedGen:C0020615 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Hypertrichosis human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Diabetes medgen_c1320657 MedGen:C1320657 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Atopic eczema human_phenotype_ontology_hp_0001047_human_phenotype_ontology_hp_0007533_human_phenotype_ontology_hp_0007564_mondo_mondo_0004980_medgen_c0011615_omim_ps603165 Human_Phenotype_Ontology:HP:0001047,Human_Phenotype_Ontology:HP:0007533,Human_Phenotype_Ontology:HP:0007564,MONDO:MONDO:0004980,MedGen:C0011615,OMIM:PS603165 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 Spastic diplegia human_phenotype_ontology_hp_0001264_medgen_c0023882 Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 Renal tubular dysfunction human_phenotype_ontology_hp_0000124_mondo_mondo_0021568_medgen_c0151747_orphanet_93603 Human_Phenotype_Ontology:HP:0000124,MONDO:MONDO:0021568,MedGen:C0151747,Orphanet:93603 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ1 Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ1 KCNJ1-related disorder kcnj1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNIP1 Idiopathic generalized epilepsy mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH8 Action myoclonus-renal failure syndrome mondo_mondo_0009699_mesh_d020191_medgen_c0751779_omim_254900_orphanet_163696 MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH5 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression mondo_mondo_0032736_medgen_c5193083_omim_618416 MONDO:MONDO:0032736,MedGen:C5193083,OMIM:618416 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Long QT syndrome, bradycardia-induced medgen_c4016248 MedGen:C4016248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Hypertrophic cardiomyopathy 26 mondo_mondo_0014883_medgen_c4310749_omim_617047_orphanet_75249 MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency mondo_mondo_0014493_medgen_c4015214_omim_616100_orphanet_436159 MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 KCNH1-related phenotype kcnh1_related_phenotype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNF1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE2 Long QT syndrome 3/6, digenic medgen_c3276241 MedGen:C3276241 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE2 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 Jervell and Lange-Nielsen syndrome 1 mondo_mondo_0024540_medgen_c4551509_omim_220400_orphanet_768_orphanet_90647 MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNE1 Hereditary hearing loss and deafness medgen_c0236038 MedGen:C0236038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 Variant of unknown significance medgen_c2986382 MedGen:C2986382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND3 Brugada syndrome 9 mondo_mondo_0014621_medgen_c4225340_omim_616399_orphanet_130 MONDO:MONDO:0014621,MedGen:C4225340,OMIM:616399,Orphanet:130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCND2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC3 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC3 Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC2 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC1 Progressive myoclonic epilepsy mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC1 KCNC1-related disorder kcnc1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Myoclonic absence seizure human_phenotype_ontology_hp_0011150_medgen_c4023512 Human_Phenotype_Ontology:HP:0011150,MedGen:C4023512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Short philtrum human_phenotype_ontology_hp_0000322_human_phenotype_ontology_hp_0200090_medgen_c1861324 Human_Phenotype_Ontology:HP:0000322,Human_Phenotype_Ontology:HP:0200090,MedGen:C1861324 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Pes planus human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Moderate global developmental delay human_phenotype_ontology_hp_0011343_medgen_c2237142 Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Inversion of nipple human_phenotype_ontology_hp_0003186_mondo_mondo_0008100_medgen_c0269269_omim_163600 Human_Phenotype_Ontology:HP:0003186,MONDO:MONDO:0008100,MedGen:C0269269,OMIM:163600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Hypermetropia human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Generalized-onset seizure human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Focal-onset seizure human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA6 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 KCNA2-related disorder kcna2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 KCN2A-related disorder kcn2a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA1 Myokymia 1 with hypomagnesemia medgen_c4016334 MedGen:C4016334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA1 Generalized epilepsy-paroxysmal dyskinesia syndrome mondo_mondo_0012276_medgen_c5574945_omim_609446_orphanet_79137 MONDO:MONDO:0012276,MedGen:C5574945,OMIM:609446,Orphanet:79137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA1 Episodic kinesigenic dyskinesia mondo_mondo_0044202_medgen_c1868682_omim_ps128200_orphanet_98809 MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KBTBD13 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNIP Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNIP Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KATNB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Vesicoureteral reflux human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Telecanthus human_phenotype_ontology_hp_0000506_mondo_mondo_0008537_medgen_c0423113_omim_187350_orphanet_98575 Human_Phenotype_Ontology:HP:0000506,MONDO:MONDO:0008537,MedGen:C0423113,OMIM:187350,Orphanet:98575 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Retinal arterial tortuosity human_phenotype_ontology_hp_0000631_mondo_mondo_0008373_medgen_c0423401_omim_180000_orphanet_75326 Human_Phenotype_Ontology:HP:0000631,MONDO:MONDO:0008373,MedGen:C0423401,OMIM:180000,Orphanet:75326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Renal hypoplasia human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Poor speech human_phenotype_ontology_hp_0002465_medgen_c1848207 Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Microangiopathy and leukoencephalopathy, pontine, autosomal dominant mondo_mondo_0032814_medgen_c5231411_omim_618564_orphanet_477749 MONDO:MONDO:0032814,MedGen:C5231411,OMIM:618564,Orphanet:477749 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B KBG syndrome mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B KAT6B-realted disoder kat6b_realted_disoder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Hypoplasia of the maxilla human_phenotype_ontology_hp_0000327_human_phenotype_ontology_hp_0004644_medgen_c0240310 Human_Phenotype_Ontology:HP:0000327,Human_Phenotype_Ontology:HP:0004644,MedGen:C0240310 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Hemorrhage, intracerebral, susceptibility to mondo_mondo_0100533_medgen_c3281105_omim_614519 MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Epilepsy, familial temporal lobe, 1 mondo_mondo_0700090_medgen_cn030884_omim_600512_orphanet_101046 MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Chromatinopathy chromatinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Bulbous nose human_phenotype_ontology_hp_0000414_human_phenotype_ontology_hp_0000443_medgen_c0240543 Human_Phenotype_Ontology:HP:0000414,Human_Phenotype_Ontology:HP:0000443,MedGen:C0240543 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Brain small vessel disease 1 with or without ocular anomalies mondo_mondo_0008289_medgen_c4755307_omim_175780_orphanet_2940_orphanet_36383_orphanet_99810 MONDO:MONDO:0008289,MedGen:C4755307,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Blepharophimosis human_phenotype_ontology_hp_0000507_human_phenotype_ontology_hp_0000513_human_phenotype_ontology_hp_0000581_mondo_mondo_0001008_medgen_c0005744 Human_Phenotype_Ontology:HP:0000507,Human_Phenotype_Ontology:HP:0000513,Human_Phenotype_Ontology:HP:0000581,MONDO:MONDO:0001008,MedGen:C0005744 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome mondo_mondo_0012726_medgen_c2673195_omim_611773_orphanet_73229 MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT2A condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT14 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT14 Mitochondrial complex IV deficiency, nuclear type 19 mondo_mondo_0033654_medgen_c5436723_omim_619063 MONDO:MONDO:0033654,MedGen:C5436723,OMIM:619063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT14 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KASH5 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KASH5 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Progressive cerebellar ataxia human_phenotype_ontology_hp_0001329_human_phenotype_ontology_hp_0002073_human_phenotype_ontology_hp_0002496_human_phenotype_ontology_hp_0007331_medgen_c0393525 Human_Phenotype_Ontology:HP:0001329,Human_Phenotype_Ontology:HP:0002073,Human_Phenotype_Ontology:HP:0002496,Human_Phenotype_Ontology:HP:0007331,MedGen:C0393525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Optic neuropathy human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Lactic acidosis human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 KARS-related disorder kars_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Congenital sensorineural hearing impairment human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Abnormal pyramidal sign human_phenotype_ontology_hp_0003488_human_phenotype_ontology_hp_0007161_human_phenotype_ontology_hp_0007225_human_phenotype_ontology_hp_0007256_human_phenotype_ontology_hp_0007275_human_phenotype_ontology_hp_0007324_human_phenotype_ontology_hp_0007347_medgen_c0234132 Human_Phenotype_Ontology:HP:0003488,Human_Phenotype_Ontology:HP:0007161,Human_Phenotype_Ontology:HP:0007225,Human_Phenotype_Ontology:HP:0007256,Human_Phenotype_Ontology:HP:0007275,Human_Phenotype_Ontology:HP:0007324,Human_Phenotype_Ontology:HP:0007347,MedGen:C0234132 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KARS1 Abnormal cerebral white matter morphology human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 Dysplastic corpus callosum human_phenotype_ontology_hp_0006989_human_phenotype_ontology_hp_0006996_medgen_c0431369 Human_Phenotype_Ontology:HP:0006989,Human_Phenotype_Ontology:HP:0006996,MedGen:C0431369 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 Chromatinopathy chromatinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANK2 Wooly hair-palmoplantar keratoderma syndrome mondo_mondo_0014492_medgen_c4015202_omim_616099_orphanet_420686 MONDO:MONDO:0014492,MedGen:C4015202,OMIM:616099,Orphanet:420686 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANK1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JUP Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JUP Palmoplantar keratodermas palmoplantar_keratodermas . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JUP Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JUN Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH2 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH2 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JPH2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JMJD8 STUB1-related disorder stub1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JKAMP JKAMP-related neurodevelopmental disorder jkamp_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JKAMP JKAMP neurodevelopmental disorder jkamp_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Speech apraxia human_phenotype_ontology_hp_0011098_medgen_c0264611 Human_Phenotype_Ontology:HP:0011098,MedGen:C0264611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Mild intellectual disability human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JARID2 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAM2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAM2 JAM2-related disorder jam2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAKMIP1 Smith-Magenis Syndrome-like smith_magenis_syndrome_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK3 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency mondo_mondo_0007064_medgen_c0392607_omim_102700_orphanet_277 MONDO:MONDO:0007064,MedGen:C0392607,OMIM:102700,Orphanet:277 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK3 NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK3 JAK3-related disorder jak3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Splenomegaly human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Primary myelofibrosis mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Primary familial polycythemia due to EPO receptor mutation mondo_mondo_0007572_medgen_c4551637_omim_133100_orphanet_90042 MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Polycythemia human_phenotype_ontology_hp_0001893_human_phenotype_ontology_hp_0001901_mondo_mondo_0005571_medgen_c0032461_orphanet_98427 Human_Phenotype_Ontology:HP:0001893,Human_Phenotype_Ontology:HP:0001901,MONDO:MONDO:0005571,MedGen:C0032461,Orphanet:98427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Myeloproliferative disorder human_phenotype_ontology_hp_0005547_mesh_d009196_medgen_c0027022 Human_Phenotype_Ontology:HP:0005547,MeSH:D009196,MedGen:C0027022 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 JAK2-related disorder jak2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC medgen_c4016234 MedGen:C4016234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Budd-Chiari syndrome, susceptibility to, somatic budd_chiari_syndrome_susceptibility_to_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK2 Budd-Chiari syndrome human_phenotype_ontology_hp_0002639_mondo_mondo_0010947_medgen_c0856761_omim_600880_orphanet_131 Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK1 Acute megakaryoblastic leukemia in down syndrome mondo_mondo_0020526_medgen_c5925108_orphanet_99887 MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAGN1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Hepatoblastoma human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IYD IYD-related disorder iyd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IVD Isovaleric acidemia, type III medgen_c4017057 MedGen:C4017057 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITSN1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITSN1 Intellectual disability, autosomal dominant 1 mondo_mondo_0007974_medgen_c1969562_omim_156200_orphanet_228402 MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITSN1 ITSN1-related neurodevelopmental disorder itsn1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITSN1 ITSN1-associated neurodevelopmental disorder itsn1_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITSN1 Generalized-onset seizure human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITSN1 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR3 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR2 Isolated anhidrosis with normal sweat glands mondo_mondo_0007118_medgen_c5568836_omim_106190_orphanet_468666 MONDO:MONDO:0007118,MedGen:C5568836,OMIM:106190,Orphanet:468666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR2 Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 ITPR1-related disorders itpr1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 ITPR1-associated cerebellar ataxia spectrum disorder itpr1_associated_cerebellar_ataxia_spectrum_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 Bilateral congenital mydriasis human_phenotype_ontology_hp_0007932_medgen_c4024770 Human_Phenotype_Ontology:HP:0007932,MedGen:C4024770 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPA ITPA-related disorder itpa_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPA Hypodontia human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITM2B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITM2B Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies mondo_mondo_0014483_medgen_c4015146_omim_616079_orphanet_397758 MONDO:MONDO:0014483,MedGen:C4015146,OMIM:616079,Orphanet:397758 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITM2B ADan amyloidosis mondo_mondo_0007297_medgen_c1861735_omim_117300_orphanet_439254_orphanet_97346 MONDO:MONDO:0007297,MedGen:C1861735,OMIM:117300,Orphanet:439254,Orphanet:97346 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITIH6 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB6 Adolescent alopeciam dentogingival abnormalitites and intellectual disability adolescent_alopeciam_dentogingival_abnormalitites_and_intellectual_disability MedGen:CN233177 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Increased mean platelet volume human_phenotype_ontology_hp_0011877_medgen_c1096367 Human_Phenotype_Ontology:HP:0011877,MedGen:C1096367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Hyper-IgE recurrent infection syndrome 1, autosomal dominant mondo_mondo_0007818_medgen_c2936739_omim_147060_orphanet_2314 MONDO:MONDO:0007818,MedGen:C2936739,OMIM:147060,Orphanet:2314 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGAV Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA7 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA6 Junctional epidermolysis bullosa mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA6 Epidermolysis bullosa mondo_mondo_0006541_mesh_d004820_medgen_c0014527 MONDO:MONDO:0006541,MeSH:D004820,MedGen:C0014527 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA6 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B Abnormal platelet function human_phenotype_ontology_hp_0011869_medgen_c0855740 Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B Abnormal platelet aggregation human_phenotype_ontology_hp_0030402_medgen_c0541767 Human_Phenotype_Ontology:HP:0030402,MedGen:C0541767 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITFG2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISLR2 Developmental and epileptic encephalopathy, 33 mondo_mondo_0014625_medgen_c4225337_omim_616409_orphanet_442835 MONDO:MONDO:0014625,MedGen:C4225337,OMIM:616409,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Spastic quadriplegic cerebral palsy human_phenotype_ontology_hp_0001280_human_phenotype_ontology_hp_0002510_human_phenotype_ontology_hp_0006983_mondo_mondo_0016215_medgen_c0426970_omim_ps612900_orphanet_210141 Human_Phenotype_Ontology:HP:0001280,Human_Phenotype_Ontology:HP:0002510,Human_Phenotype_Ontology:HP:0006983,MONDO:MONDO:0016215,MedGen:C0426970,OMIM:PS612900,Orphanet:210141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Neurodegeneration human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Increased CSF lactate human_phenotype_ontology_hp_0002490_medgen_c1167918 Human_Phenotype_Ontology:HP:0002490,MedGen:C1167918 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Fatal multiple mitochondrial dysfunctions syndrome mondo_mondo_0017338_medgen_c3502075_omim_ps605711_orphanet_289573 MONDO:MONDO:0017338,MedGen:C3502075,OMIM:PS605711,Orphanet:289573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Death in infancy human_phenotype_ontology_hp_0001522_human_phenotype_ontology_hp_0003816_human_phenotype_ontology_hp_0003817_human_phenotype_ontology_hp_0003818_human_phenotype_ontology_hp_0003823_human_phenotype_ontology_hp_0003827_medgen_c1858430 Human_Phenotype_Ontology:HP:0001522,Human_Phenotype_Ontology:HP:0003816,Human_Phenotype_Ontology:HP:0003817,Human_Phenotype_Ontology:HP:0003818,Human_Phenotype_Ontology:HP:0003823,Human_Phenotype_Ontology:HP:0003827,MedGen:C1858430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA2 Axial hypotonia human_phenotype_ontology_hp_0002320_human_phenotype_ontology_hp_0008936_medgen_c1853743 Human_Phenotype_Ontology:HP:0002320,Human_Phenotype_Ontology:HP:0008936,MedGen:C1853743 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ISCA1 Multiple mitochondrial dysfunctions syndrome 5 mondo_mondo_0033282_medgen_c4539919_omim_617613_orphanet_569274 MONDO:MONDO:0033282,MedGen:C4539919,OMIM:617613,Orphanet:569274 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRX4 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF8 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency mondo_mondo_0013957_medgen_c3808589_omim_614893_orphanet_319600 MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF8 Immunodeficiency 32B mondo_mondo_0009194_medgen_c4751209_omim_226990_orphanet_2566 MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF8 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Orofacial cleft 1 mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF1 Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF1 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK4 Invasive pneumococcal disease, recurrent isolated invasive_pneumococcal_disease_recurrent_isolated MedGen:CN228622 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK4 IRAK4-related disorder irak4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK4 Congenital dyserythropoietic anemia mondo_mondo_0019403_medgen_c0002876_omim_ps224120_orphanet_85 MONDO:MONDO:0019403,MedGen:C0002876,OMIM:PS224120,Orphanet:85 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK1BP1 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK1BP1 Schizophrenia human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK1BP1 PHIP-related disorder phip_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Undetermined early-onset epileptic encephalopathy mondo_mondo_0018614_medgen_c5680057_orphanet_442835 MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Paraplegia-intellectual disability-hyperkeratosis syndrome mondo_mondo_0010662_medgen_c2745996_omim_309560_orphanet_2824 MONDO:MONDO:0010662,MedGen:C2745996,OMIM:309560,Orphanet:2824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Intellectual developmental disorder, X-linked 108 mondo_mondo_0026723_medgen_c5193009_omim_301024 MONDO:MONDO:0026723,MedGen:C5193009,OMIM:301024 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQGAP3 Motor and sensory neuropathy motor_and_sensory_neuropathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCE condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCE Polydactyly, postaxial, type A1 mondo_mondo_0008266_medgen_c4282400_omim_174200 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IPO8 Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IPO8 IPO8-related disorder ipo8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IPO8 Duane-radial ray syndrome mondo_mondo_0011812_medgen_c1623209_omim_607323_orphanet_93293_orphanet_959 MONDO:MONDO:0011812,MedGen:C1623209,OMIM:607323,Orphanet:93293,Orphanet:959 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INVS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTU Mohr syndrome mondo_mondo_0009642_medgen_c0026363_omim_252100_orphanet_2751 MONDO:MONDO:0009642,MedGen:C0026363,OMIM:252100,Orphanet:2751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INTS6 INTS6-associated neurodevelopmental disorder ints6_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR Insulin-resistant diabetes mellitus human_phenotype_ontology_hp_0000831_medgen_c0854110 Human_Phenotype_Ontology:HP:0000831,MedGen:C0854110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSR 46,XY disorder of sex development mondo_mondo_0020040_medgen_c2751824_orphanet_98085 MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Splenomegaly human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Primary myelofibrosis mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Primary familial polycythemia due to EPO receptor mutation mondo_mondo_0007572_medgen_c4551637_omim_133100_orphanet_90042 MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Polycythemia human_phenotype_ontology_hp_0001893_human_phenotype_ontology_hp_0001901_mondo_mondo_0005571_medgen_c0032461_orphanet_98427 Human_Phenotype_Ontology:HP:0001893,Human_Phenotype_Ontology:HP:0001901,MONDO:MONDO:0005571,MedGen:C0032461,Orphanet:98427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Myeloproliferative disorder human_phenotype_ontology_hp_0005547_mesh_d009196_medgen_c0027022 Human_Phenotype_Ontology:HP:0005547,MeSH:D009196,MedGen:C0027022 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 JAK2-related disorder jak2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC medgen_c4016234 MedGen:C4016234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Budd-Chiari syndrome, susceptibility to, somatic budd_chiari_syndrome_susceptibility_to_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL6 Budd-Chiari syndrome human_phenotype_ontology_hp_0002639_mondo_mondo_0010947_medgen_c0856761_omim_600880_orphanet_131 Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INSL3 Bilateral cryptorchidism human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Diabetes mellitus type 1 human_phenotype_ontology_hp_0100651_mondo_mondo_0005147_medgen_c0011854_omim_222100 Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INS Amyotrophic lateral sclerosis, susceptibility to, 24 mondo_mondo_0054750_medgen_c4693523_omim_617892 MONDO:MONDO:0054750,MedGen:C4693523,OMIM:617892 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5K condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5K Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5F Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Vertebral segmentation defect human_phenotype_ontology_hp_0003422_human_phenotype_ontology_hp_0005705_medgen_c0432163 Human_Phenotype_Ontology:HP:0003422,Human_Phenotype_Ontology:HP:0005705,MedGen:C0432163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Vertebral hypoplasia human_phenotype_ontology_hp_0008417_human_phenotype_ontology_hp_0008431_medgen_c0345394 Human_Phenotype_Ontology:HP:0008417,Human_Phenotype_Ontology:HP:0008431,MedGen:C0345394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Short femur human_phenotype_ontology_hp_0003097_human_phenotype_ontology_hp_0009749_mondo_mondo_0016032_medgen_c0345375_orphanet_1987 Human_Phenotype_Ontology:HP:0003097,Human_Phenotype_Ontology:HP:0009749,MONDO:MONDO:0016032,MedGen:C0345375,Orphanet:1987 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Respiratory failure human_phenotype_ontology_hp_0002878_human_phenotype_ontology_hp_0004877_mondo_mondo_0021113_medgen_c1145670 Human_Phenotype_Ontology:HP:0002878,Human_Phenotype_Ontology:HP:0004877,MONDO:MONDO:0021113,MedGen:C1145670 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Pseudoarthrosis human_phenotype_ontology_hp_0005864_medgen_c0033785 Human_Phenotype_Ontology:HP:0005864,MedGen:C0033785 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Preaxial foot polydactyly human_phenotype_ontology_hp_0001841_human_phenotype_ontology_hp_0009607_human_phenotype_ontology_hp_0010050_medgen_c2112942 Human_Phenotype_Ontology:HP:0001841,Human_Phenotype_Ontology:HP:0009607,Human_Phenotype_Ontology:HP:0010050,MedGen:C2112942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Patent ductus arteriosus human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Hemivertebrae human_phenotype_ontology_hp_0002937_medgen_c0265677 Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Coat hanger sign of ribs human_phenotype_ontology_hp_0006665_medgen_c4025010 Human_Phenotype_Ontology:HP:0006665,MedGen:C4025010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Chronic lung disease human_phenotype_ontology_hp_0006528_medgen_c0746102 Human_Phenotype_Ontology:HP:0006528,MedGen:C0746102 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Absent epiphyses human_phenotype_ontology_hp_0010577_medgen_c4021862 Human_Phenotype_Ontology:HP:0010577,MedGen:C4021862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Abnormal pulmonary interstitial morphology human_phenotype_ontology_hp_0006513_human_phenotype_ontology_hp_0006530_human_phenotype_ontology_hp_0006547_mondo_mondo_0015925_medgen_c5441745_orphanet_182095 Human_Phenotype_Ontology:HP:0006513,Human_Phenotype_Ontology:HP:0006530,Human_Phenotype_Ontology:HP:0006547,MONDO:MONDO:0015925,MedGen:C5441745,Orphanet:182095 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5B Dent disease type 2 mondo_mondo_0010359_medgen_c1845167_omim_300555_orphanet_1652_orphanet_93623 MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555,Orphanet:1652,Orphanet:93623 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4A visual disturbance medgen_c0547030 MedGen:C0547030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4A Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4A Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4A Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4A Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP4A Dyskeratosis congenita, autosomal dominant 1 mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Renal insufficiency human_phenotype_ontology_hp_0000083_human_phenotype_ontology_hp_0000084_human_phenotype_ontology_hp_0004723_medgen_c1565489 Human_Phenotype_Ontology:HP:0000083,Human_Phenotype_Ontology:HP:0000084,Human_Phenotype_Ontology:HP:0004723,MedGen:C1565489 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Proteinuria human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INCENP Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence INA Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Vitelliform macular dystrophy 3 mondo_mondo_0024561_medgen_cn295869_omim_608161 MONDO:MONDO:0024561,MedGen:CN295869,OMIM:608161 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Vitelliform macular dystrophy 2 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 IMPG2-related recessive retinopathy mondo_mondo_0700241_medgen_cn375916 MONDO:MONDO:0700241,MedGen:CN375916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 IMPG2-related disorder impg2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 Vitelliform macular dystrophy 2 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG1 IMPG1-related disorder impg1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPDH1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR2 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ILDR1 Congenital sensorineural hearing impairment human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7R T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency mondo_mondo_0015701_medgen_c5679577_orphanet_169154 MONDO:MONDO:0015701,MedGen:C5679577,Orphanet:169154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7R Multiple sclerosis, susceptibility to, 3 mondo_mondo_0012957_medgen_c2675477_omim_612595 MONDO:MONDO:0012957,MedGen:C2675477,OMIM:612595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7R IL7R-related disorder il7r_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7R Histiocytic medullary reticulosis mondo_mondo_0011338_medgen_c2700553_omim_603554_orphanet_39041 MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7R Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6ST IL6ST-related disorder il6st_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6ST Developmental and epileptic encephalopathy, 7 mondo_mondo_0013387_medgen_c3150986_omim_613720_orphanet_439218 MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720,Orphanet:439218 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL6R condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL4I1 Infantile bilateral striatal necrosis mondo_mondo_0015518_medgen_c0795996_orphanet_1576 MONDO:MONDO:0015518,MedGen:C0795996,Orphanet:1576 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL37 Inflammatory bowel disease mondo_mondo_0005265_medgen_c0021390_omim_ps266600_orphanet_104012 MONDO:MONDO:0005265,MedGen:C0021390,OMIM:PS266600,Orphanet:104012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL36RN IL36RN-related disorder il36rn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL36RN Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL31RA Amyloidosis, primary localized cutaneous, 2 mondo_mondo_0013502_medgen_c3151404_omim_613955_orphanet_353220 MONDO:MONDO:0013502,MedGen:C3151404,OMIM:613955,Orphanet:353220 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RG Combined immunodeficiency human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RB Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RA Type 1 diabetes mellitus 10 mondo_mondo_0011168_medgen_c1866040_omim_601942 MONDO:MONDO:0011168,MedGen:C1866040,OMIM:601942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL21 IL21-related infantile inflammatory bowel disease mondo_mondo_0014338_medgen_c5567788_omim_615767_orphanet_238569_orphanet_477661 MONDO:MONDO:0014338,MedGen:C5567788,OMIM:615767,Orphanet:238569,Orphanet:477661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RN Microvascular complications of diabetes, susceptibility to, 4 mondo_mondo_0012966_medgen_c2675112_omim_612628 MONDO:MONDO:0012966,MedGen:C2675112,OMIM:612628 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RN Interstitial lung disease 2 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RN IL1RN-related disorder il1rn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RN Gastric cancer susceptibility after h. pylori infection gastric_cancer_susceptibility_after_h_pylori_infection . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RN Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1RAPL1 IL1RAPL1-related disorder il1rapl1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL1R1 Chronic recurrent multifocal osteomyelitis 3 mondo_mondo_0958177_medgen_cn376807_omim_259680 MONDO:MONDO:0958177,MedGen:CN376807,OMIM:259680 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL19 Rheumatoid arthritis, progression of medgen_c1736175 MedGen:C1736175 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL19 Leprosy, susceptibility to, 1 mondo_mondo_0012358_medgen_c1835932_omim_609888_orphanet_548 MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL19 Hepatitis C virus, susceptibility to mondo_mondo_0012292_medgen_c1835407_omim_609532 MONDO:MONDO:0012292,MedGen:C1835407,OMIM:609532 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia mondo_mondo_0014103_medgen_c3808975_omim_615267_orphanet_478 MONDO:MONDO:0014103,MedGen:C3808975,OMIM:615267,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RD Delayed puberty human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RD Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RA Psoriasis mondo_mondo_0005083_medgen_c0033860_omim_ps177900 MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RA Chronic mucocutaneous candidiasis human_phenotype_ontology_hp_0002728_human_phenotype_ontology_hp_0005392_mondo_mondo_0015279_medgen_c0006845_omim_ps114580_orphanet_1334 Human_Phenotype_Ontology:HP:0002728,Human_Phenotype_Ontology:HP:0005392,MONDO:MONDO:0015279,MedGen:C0006845,OMIM:PS114580,Orphanet:1334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL12RB1 Mycobacterium tuberculosis, susceptibility to medgen_c1834752_omim_607948 MedGen:C1834752,OMIM:607948 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL12RB1 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL12B IL12B-related disorder il12b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL11RA Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10RB Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10RB Hepatitis B virus, susceptibility to mondo_mondo_0012488_medgen_c1864880_omim_610424 MONDO:MONDO:0012488,MedGen:C1864880,OMIM:610424 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10RA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10RA IL10RA-related disorder il10ra_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10 Rheumatoid arthritis, progression of medgen_c1736175 MedGen:C1736175 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10 Leprosy, susceptibility to, 1 mondo_mondo_0012358_medgen_c1835932_omim_609888_orphanet_548 MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10 Hepatitis C virus, susceptibility to mondo_mondo_0012292_medgen_c1835407_omim_609532 MONDO:MONDO:0012292,MedGen:C1835407,OMIM:609532 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKZF1 Immunodeficiency human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) nemo_deleted_exon_5_autoinflammatory_syndrome_nemo_ndas . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Malaria, susceptibility to mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG IMMUNODEFICIENCY 33, MALE-RESTRICTED immunodeficiency_33_male_restricted . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG IKBKG-related disorder ikbkg_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG G6PD deficiency mondo_mondo_0005775_medgen_c2939465 MONDO:MONDO:0005775,MedGen:C2939465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG G6PD GAOHE g6pd_gaohe . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKG Early-onset coronary artery disease medgen_c4229399 MedGen:C4229399 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IHH IHH-related disorder ihh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IHH Hirschsprung disease, susceptibility to, 1 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IHH Acromesomelic dysplasia 1, Maroteaux type mondo_mondo_0011275_medgen_c1864356_omim_602875_orphanet_40 MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875,Orphanet:40 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGSF1 Pituitary hormone deficiency pituitary_hormone_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Tachypnea human_phenotype_ontology_hp_0002789_human_phenotype_ontology_hp_0002874_human_phenotype_ontology_hp_0004346_medgen_c0231835 Human_Phenotype_Ontology:HP:0002789,Human_Phenotype_Ontology:HP:0002874,Human_Phenotype_Ontology:HP:0004346,MedGen:C0231835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Severe muscular hypotonia human_phenotype_ontology_hp_0002347_human_phenotype_ontology_hp_0006829_medgen_c1839630 Human_Phenotype_Ontology:HP:0002347,Human_Phenotype_Ontology:HP:0006829,MedGen:C1839630 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Respiratory distress human_phenotype_ontology_hp_0002098_human_phenotype_ontology_hp_0002880_medgen_c0476273 Human_Phenotype_Ontology:HP:0002098,Human_Phenotype_Ontology:HP:0002880,MedGen:C0476273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Progressive muscle weakness human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Neuronopathy, distal hereditary motor, autosomal dominant 1 mondo_mondo_0008451_medgen_c1866784_omim_182960_orphanet_139518 MONDO:MONDO:0008451,MedGen:C1866784,OMIM:182960,Orphanet:139518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Lower limb muscle weakness human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Inability to walk human_phenotype_ontology_hp_0002540_medgen_c0560046 Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Hyperreflexia human_phenotype_ontology_hp_0001282_human_phenotype_ontology_hp_0001347_human_phenotype_ontology_hp_0006820_human_phenotype_ontology_hp_0007184_human_phenotype_ontology_hp_0007318_mondo_mondo_0007774_medgen_c0151889_omim_145290 Human_Phenotype_Ontology:HP:0001282,Human_Phenotype_Ontology:HP:0001347,Human_Phenotype_Ontology:HP:0006820,Human_Phenotype_Ontology:HP:0007184,Human_Phenotype_Ontology:HP:0007318,MONDO:MONDO:0007774,MedGen:C0151889,OMIM:145290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Hammertoe human_phenotype_ontology_hp_0001765_medgen_c1136179 Human_Phenotype_Ontology:HP:0001765,MedGen:C1136179 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Clonus human_phenotype_ontology_hp_0002169_medgen_c0009024 Human_Phenotype_Ontology:HP:0002169,MedGen:C0009024 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGFBP7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGFBP7 Retinal arterial macroaneurysm with supravascular pulmonic stenosis medgen_c4016816 MedGen:C4016816 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGFBP4 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2R Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2 Wilms tumor 1 mondo_mondo_0008679_medgen_cn033288_omim_194070_orphanet_654 MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2 IGF2-related disorder igf2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF2 Beckwith-Wiedemann syndrome mondo_mondo_0007534_medgen_c0004903_omim_130650_orphanet_116 MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGBP1 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome mondo_mondo_0010333_medgen_c1845446_omim_300472_orphanet_52055 MONDO:MONDO:0010333,MedGen:C1845446,OMIM:300472,Orphanet:52055 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT81 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT81 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT81 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT81 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT80 Type IV short rib polydactyly syndrome mondo_mondo_0010024_medgen_c0432198_omim_269860_orphanet_93268 MONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860,Orphanet:93268 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 Spermatogenic failure 58 mondo_mondo_0030463_medgen_c5562008_omim_619585 MONDO:MONDO:0030463,MedGen:C5562008,OMIM:619585 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 Multiple Morphological Anomalies of Sperm Flagella (MMAF) multiple_morphological_anomalies_of_sperm_flagella_mmaf . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT74 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT56 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT56 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT56 Caroli disease mondo_mondo_0010913_medgen_c0162510_omim_600643_orphanet_53035 MONDO:MONDO:0010913,MedGen:C0162510,OMIM:600643,Orphanet:53035 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 IFT140-associated disorder ift140_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Asphyxiating thoracic dystrophy 1 mondo_mondo_0008831_medgen_c4551856_omim_208500_orphanet_474 MONDO:MONDO:0008831,MedGen:C4551856,OMIM:208500,Orphanet:474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT122 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT122 Cranioectodermal dysplasia mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 Interferon gamma receptor deficiency medgen_c1112429 MedGen:C1112429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 IFN-gamma receptor 1 deficiency medgen_c4288927 MedGen:C4288927 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 Hepatitis B virus, susceptibility to mondo_mondo_0012488_medgen_c1864880_omim_610424 MONDO:MONDO:0012488,MedGen:C1864880,OMIM:610424 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNGR1 Helicobacter pylori infection, susceptibility to mondo_mondo_0010853_medgen_c1838332_omim_600263 MONDO:MONDO:0010853,MedGen:C1838332,OMIM:600263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNG Immunodeficiency 69 mondo_mondo_0033541_medgen_c5436498_omim_618963_orphanet_699618 MONDO:MONDO:0033541,MedGen:C5436498,OMIM:618963,Orphanet:699618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFNG Acquired immunodeficiency syndrome, rapid progression to medgen_c4016227 MedGen:C4016227 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFITM5 Postmenopausal osteoporosis mondo_mondo_0008159_medgen_c0029458 MONDO:MONDO:0008159,MedGen:C0029458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFITM5 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Spastic diplegia human_phenotype_ontology_hp_0001264_medgen_c0023882 Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 IFIH1-related type 1 interferonopathy mondo_mondo_0700262_medgen_cn377548 MONDO:MONDO:0700262,MedGen:CN377548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Hyperreflexia human_phenotype_ontology_hp_0001282_human_phenotype_ontology_hp_0001347_human_phenotype_ontology_hp_0006820_human_phenotype_ontology_hp_0007184_human_phenotype_ontology_hp_0007318_mondo_mondo_0007774_medgen_c0151889_omim_145290 Human_Phenotype_Ontology:HP:0001282,Human_Phenotype_Ontology:HP:0001347,Human_Phenotype_Ontology:HP:0006820,Human_Phenotype_Ontology:HP:0007184,Human_Phenotype_Ontology:HP:0007318,MONDO:MONDO:0007774,MedGen:C0151889,OMIM:145290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Hereditary predisposition to infections medgen_c5680530_orphanet_183710 MedGen:C5680530,Orphanet:183710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Clonus human_phenotype_ontology_hp_0002169_medgen_c0009024 Human_Phenotype_Ontology:HP:0002169,MedGen:C0009024 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Aicardi Goutieres syndrome mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Abnormal upper motor neuron morphology human_phenotype_ontology_hp_0002127_medgen_c4025723 Human_Phenotype_Ontology:HP:0002127,MedGen:C4025723 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Abnormal cerebral white matter morphology human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Abnormal basal ganglia morphology human_phenotype_ontology_hp_0002134_human_phenotype_ontology_hp_0006952_human_phenotype_ontology_hp_0007257_mondo_mondo_0003996_medgen_c4520981 Human_Phenotype_Ontology:HP:0002134,Human_Phenotype_Ontology:HP:0006952,Human_Phenotype_Ontology:HP:0007257,MONDO:MONDO:0003996,MedGen:C4520981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IER3IP1 Microcephaly, epilepsy, and diabetes syndrome 1 mondo_mondo_0031481_medgen_cn305347_omim_614231 MONDO:MONDO:0031481,MedGen:CN305347,OMIM:614231 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IER3IP1 Microcephaly, epilepsy, and diabetes syndrome mondo_mondo_0100328_medgen_c3280240_omim_ps614231_orphanet_306558 MONDO:MONDO:0100328,MedGen:C3280240,OMIM:PS614231,Orphanet:306558 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Nephrolithiasis, calcium oxalate human_phenotype_ontology_hp_0008672_human_phenotype_ontology_hp_0008700_human_phenotype_ontology_hp_0008725_mondo_mondo_0957318_medgen_c1833683_omim_ps167030 Human_Phenotype_Ontology:HP:0008672,Human_Phenotype_Ontology:HP:0008700,Human_Phenotype_Ontology:HP:0008725,MONDO:MONDO:0957318,MedGen:C1833683,OMIM:PS167030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Mucopolysaccharidosis, MPS-IV-A mondo_mondo_0009659_medgen_c0086651_omim_253000_orphanet_309297_orphanet_582 MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Mucopolysaccharidosis, MPS-II mondo_mondo_0010674_medgen_c0026705_omim_309900_orphanet_580_orphanet_79388 MONDO:MONDO:0010674,MedGen:C0026705,OMIM:309900,Orphanet:580,Orphanet:79388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Mucopolysaccharidosis mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA IDUA-related core myopathy idua_related_core_myopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Hypersulfaturia mondo_mondo_0957268_medgen_c5830511_omim_620372 MONDO:MONDO:0957268,MedGen:C5830511,OMIM:620372 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Familial hypokalemia-hypomagnesemia mondo_mondo_0009904_medgen_c0268450_omim_263800_orphanet_358 MONDO:MONDO:0009904,MedGen:C0268450,OMIM:263800,Orphanet:358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Autosomal recessive IDUA-related disorders autosomal_recessive_idua_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDS IDS-related disorder ids_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH3A Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH2 Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH2 Maffucci syndrome mondo_mondo_0013808_medgen_c0024454_omim_614569_orphanet_163634 MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH2 IDH2-related mitochondrial disease idh2_related_mitochondrial_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 Paroxysmal extreme pain disorder mondo_mondo_0008179_medgen_c1833661_omim_167400_orphanet_46348 MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria mondo_mondo_0013941_medgen_c3553958_omim_614875_orphanet_99646 MONDO:MONDO:0013941,MedGen:C3553958,OMIM:614875,Orphanet:99646 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 Metaphyseal chondromatosis metaphyseal_chondromatosis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 Maffucci syndrome mondo_mondo_0013808_medgen_c0024454_omim_614569_orphanet_163634 MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 Glioblastoma multiforme, somatic medgen_c4016231 MedGen:C4016231 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IDH1 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ICOSLG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ICOSLG Combined immunodeficiency human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ICOS Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence IBA57 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IBA57 IBA57-related disorder iba57_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IARS2 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IARS1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IARS1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IAH1 Neonatal inflammatory skin and bowel disease mondo_mondo_0017411_medgen_c4751120_omim_ps614328_orphanet_294023 MONDO:MONDO:0017411,MedGen:C4751120,OMIM:PS614328,Orphanet:294023 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 PUS3-related disorder pus3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYLS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYKK Chronic obstructive pulmonary disease human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYDIN Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYDIN Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYDIN HP:0000750; HP:0001263 hp_0000750_hp_0001263 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYDIN Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYCC1 Tooth agenesis, selective, X-linked, 1 mondo_mondo_0010741_medgen_c1970757_omim_313500_orphanet_99798 MONDO:MONDO:0010741,MedGen:C1970757,OMIM:313500,Orphanet:99798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYAL3 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYAL3 Auroneurodental syndrome mondo_mondo_0970998_medgen_c5889721_omim_620830 MONDO:MONDO:0970998,MedGen:C5889721,OMIM:620830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYAL2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 X-linked intellectual disability mondo_mondo_0100284_medgen_c1136249 MONDO:MONDO:0100284,MedGen:C1136249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 Trigonocephaly-short stature-developmental delay syndrome mondo_mondo_0010749_medgen_c1839125_omim_314320_orphanet_3369 MONDO:MONDO:0010749,MedGen:C1839125,OMIM:314320,Orphanet:3369 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTT Lopes-Maciel-Rodan syndrome mondo_mondo_0054573_medgen_c4479491_omim_617435 MONDO:MONDO:0054573,MedGen:C4479491,OMIM:617435 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA2 Parkinson disease 13, autosomal dominant, susceptibility to mondo_mondo_0012466_medgen_c1853202_omim_610297_orphanet_2828 MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA2 HTRA2-Related Disorders htra2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Vascular dementia mondo_mondo_0004648_mesh_d015140_medgen_c0011269 MONDO:MONDO:0004648,MeSH:D015140,MedGen:C0011269 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Small vessel cerebrovascular disease mesh_d059345_medgen_c2733158 MeSH:D059345,MedGen:C2733158 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Personality changes human_phenotype_ontology_hp_0000751_medgen_c0240735 Human_Phenotype_Ontology:HP:0000751,MedGen:C0240735 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Leukodystrophy, Adult-Onset leukodystrophy_adult_onset MedGen:CN239186 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 HTRA1-related disorder htra1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Cognitive impairment human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Cerebral arterial disease mondo_mondo_0006693_medgen_c0007774 MONDO:MONDO:0006693,MedGen:C0007774 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Age related macular degeneration 7 mondo_mondo_0012419_medgen_c1857813_omim_610149 MONDO:MONDO:0012419,MedGen:C1857813,OMIM:610149 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTR2C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPG2 Autosomal recessive HSPG2-related disorders autosomal_recessive_hspg2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPG2 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPD1 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPD1 HSPD1-related disorder hspd1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 Myopathy, autophagic vacuolar, infantile-onset mondo_mondo_0012286_medgen_c2931230_omim_609500 MONDO:MONDO:0012286,MedGen:C2931230,OMIM:609500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 HSPB8-related neuromuscular disorder hspb8_related_neuromuscular_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 Distal myopathy mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB8 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 Distal hereditary motor neuropathy type 2 mondo_mondo_0015352_mesh_c580044_medgen_c3711384_orphanet_139525 MONDO:MONDO:0015352,MeSH:C580044,MedGen:C3711384,Orphanet:139525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPA9 Autosomal dominant sideroblastic anemia mondo_mondo_0008422_medgen_c4225428_omim_182170_orphanet_260305 MONDO:MONDO:0008422,MedGen:C4225428,OMIM:182170,Orphanet:260305 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSF4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSF4 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B7 Congenital bile acid synthesis defect mondo_mondo_0018841_medgen_c5680095_omim_ps607765_orphanet_485631 MONDO:MONDO:0018841,MedGen:C5680095,OMIM:PS607765,Orphanet:485631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B2 Hypospadias 1, X-linked mondo_mondo_0010384_medgen_c2678098_omim_300633_orphanet_440 MONDO:MONDO:0010384,MedGen:C2678098,OMIM:300633,Orphanet:440 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B3 HSD17B3-related disorder hsd17b3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B10 HSD17B10-related disorder hsd17b10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD11B2 Apparent mineralocorticoid excess, mild medgen_c4017360 MedGen:C4017360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HS6ST2 Paganini-Miozzo syndrome mondo_mondo_0026724_medgen_c5193010_omim_301025 MONDO:MONDO:0026724,MedGen:C5193010,OMIM:301025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HS3ST6 Angioedema, hereditary, 8 mondo_mondo_0030298_medgen_c5543528_omim_619367 MONDO:MONDO:0030298,MedGen:C5543528,OMIM:619367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HROB Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRG Familial early-onset deep venous thrombosis familial_early_onset_deep_venous_thrombosis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS cutaneous-skeletal hypophosphatemia syndrome cutaneous_skeletal_hypophosphatemia_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Wooly hair nevus mondo_mondo_0019311_medgen_c0343114_orphanet_79414 MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:79414 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Spermatocytic seminoma mondo_mondo_0020513_medgen_c0334517_orphanet_99865 MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Salivary gland neoplasm human_phenotype_ontology_hp_0100684_mondo_mondo_0021357_medgen_c0036095 Human_Phenotype_Ontology:HP:0100684,MONDO:MONDO:0021357,MedGen:C0036095 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS SPITZ NEVUS, SOMATIC spitz_nevus_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Non-small cell lung carcinoma human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS NEVUS SPILUS, SOMATIC nevus_spilus_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS KA-like vemurafenib-induced squamous lesions ka_like_vemurafenib_induced_squamous_lesions . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Intramuscular hemangioma mondo_mondo_0003088_medgen_c0205789 MONDO:MONDO:0003088,MedGen:C0205789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC medgen_c3277679 MedGen:C3277679 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS COSTELLO SYNDROME, SEVERE medgen_c4016398 MedGen:C4016398 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HR HR-related disorder hr_related_disorder MedGen:CN239293 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPSE2 HPSE2-related disorder hpse2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS3 Hermansky-Pudlak syndrome 2 mondo_mondo_0011997_medgen_c1842362_omim_608233_orphanet_183678_orphanet_79430 MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS1 Hermansky-Pudlak syndrome with pulmonary fibrosis mondo_mondo_0016501_medgen_c5679834_orphanet_231500 MONDO:MONDO:0016501,MedGen:C5679834,Orphanet:231500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT YALE hprt_yale . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT URANGAN hprt_urangan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT TORONTO hprt_toronto . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT TOOWONG hprt_toowong . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT SWAN hprt_swan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT PARIS hprt_paris . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT NEW HAVEN hprt_new_haven . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT NEW BRITON hprt_new_briton . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT MUNICH hprt_munich . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT MOOSE JAW hprt_moose_jaw . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT MONTREAL hprt_montreal . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT MILWAUKEE hprt_milwaukee . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT MIDLAND hprt_midland . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT MICHIGAN hprt_michigan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT LONDON hprt_london . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT FUJIMI hprt_fujimi . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT FLINT hprt_flint . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT EVANSVILLE hprt_evansville . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT DETROIT hprt_detroit . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT COORPAROO hprt_coorparoo . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT CHICAGO hprt_chicago . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT CHERMSIDE hprt_chermside . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT ASHVILLE hprt_ashville . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT ARLINGTON hprt_arlington . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 HPRT ANN ARBOR hprt_ann_arbor . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPGD HPGD-related disorder hpgd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPGD Cranioosteoarthropathy mondo_mondo_0015466_medgen_c2678439_orphanet_1525 MONDO:MONDO:0015466,MedGen:C2678439,Orphanet:1525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPDL Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD Limb dystonia human_phenotype_ontology_hp_0002451_medgen_c0751093 Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD Hypokinesia human_phenotype_ontology_hp_0002375_human_phenotype_ontology_hp_0002603_human_phenotype_ontology_hp_0006795_medgen_c0086439 Human_Phenotype_Ontology:HP:0002375,Human_Phenotype_Ontology:HP:0002603,Human_Phenotype_Ontology:HP:0006795,MedGen:C0086439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD Hypertyrosinemia human_phenotype_ontology_hp_0003231_medgen_c1879362 Human_Phenotype_Ontology:HP:0003231,MedGen:C1879362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD Abnormal cerebral white matter morphology human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 Brachydactyly-syndactyly-oligodactyly syndrome mondo_mondo_0800344_medgen_c4310807 MONDO:MONDO:0800344,MedGen:C4310807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD13 Brachydactyly type E human_phenotype_ontology_hp_0005863_human_phenotype_ontology_hp_0006115_mondo_mondo_0019677_medgen_c4315392_orphanet_93387 Human_Phenotype_Ontology:HP:0005863,Human_Phenotype_Ontology:HP:0006115,MONDO:MONDO:0019677,MedGen:C4315392,Orphanet:93387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXD10 Congenital vertical talus human_phenotype_ontology_hp_0001835_human_phenotype_ontology_hp_0001838_human_phenotype_ontology_hp_0004693_human_phenotype_ontology_hp_0010218_mondo_mondo_0008652_medgen_c0240912_omim_192950_orphanet_178382 Human_Phenotype_Ontology:HP:0001835,Human_Phenotype_Ontology:HP:0001838,Human_Phenotype_Ontology:HP:0004693,Human_Phenotype_Ontology:HP:0010218,MONDO:MONDO:0008652,MedGen:C0240912,OMIM:192950,Orphanet:178382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 Prostate cancer, hereditary, 9 mondo_mondo_0012597_medgen_c1970250_omim_610997_orphanet_1331 MONDO:MONDO:0012597,MedGen:C1970250,OMIM:610997,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 Prostate cancer susceptibility medgen_c3469524 MedGen:C3469524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 HOXB13-related disorder hoxb13_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 HOXB13-Related Cancer Predisposition hoxb13_related_cancer_predisposition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXB13 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA3 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA2 MICROTIA WITHOUT HEARING IMPAIRMENT microtia_without_hearing_impairment . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA2 MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT medgen_c3808166 MedGen:C3808166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA2 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA11 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 mondo_mondo_0024558_medgen_c4551975_omim_605432_orphanet_71289 MONDO:MONDO:0024558,MedGen:C4551975,OMIM:605432,Orphanet:71289 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA11 Mesomelic dysplasia with urogenital abnormalities mesomelic_dysplasia_with_urogenital_abnormalities . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOXA11 Inherited genitourinary tract anomalies medgen_c1844502_omim_305690 MedGen:C1844502,OMIM:305690 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HORMAD1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOOK3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPUL2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPUL2 HNRNPUL2-related disorder hnrnpul2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Intellectual disability and seizures intellectual_disability_and_seizures MedGen:CN231403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPK Neonatal encephalopathy medgen_c0235820 MedGen:C0235820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPK Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPK Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 HNRNPH2-related disorder hnrnph2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 Fabry disease human_phenotype_ontology_hp_0001071_mondo_mondo_0010526_medgen_c0002986_omim_301500_orphanet_324 Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH2 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH1 Intellectual disability, X-linked, syndromic, Bain type mondo_mondo_0010512_medgen_c4310814_omim_300986_orphanet_662198 MONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986,Orphanet:662198 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPDL HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles hnrnpdl_related_myopathy_with_protein_aggregates_and_rimmed_vacuoles . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPD condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPD Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPD HNRNPD-related neurodevelopmental disorder hnrnpd_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA2B1 Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA1 Finnish upper limb-onset distal myopathy mondo_mondo_0012410_medgen_c1864706_omim_610099_orphanet_399086 MONDO:MONDO:0012410,MedGen:C1864706,OMIM:610099,Orphanet:399086 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA1 Distal myopathy mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPA1 Amyotrophic lateral sclerosis type 20 mondo_mondo_0014181_medgen_c3715156_omim_615426_orphanet_803 MONDO:MONDO:0014181,MedGen:C3715156,OMIM:615426,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Maturity-onset diabetes of the young type 3 mondo_mondo_0010894_medgen_c1838100_omim_600496_orphanet_552 MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Hyperinsulinism due to HNF1A deficiency mondo_mondo_0017935_medgen_c4303475_orphanet_324575 MONDO:MONDO:0017935,MedGen:C4303475,Orphanet:324575 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Hyperuricemic nephropathy, familial juvenile type 3 mondo_mondo_0013643_medgen_c3280216_omim_614227 MONDO:MONDO:0013643,MedGen:C3280216,OMIM:614227 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B HNF1B-related renal cysts and diabetes syndrome hnf1b_related_renal_cysts_and_diabetes_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Chromophobe renal cell carcinoma mondo_mondo_0017885_medgen_c1266042_orphanet_319303 MONDO:MONDO:0017885,MedGen:C1266042,Orphanet:319303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Autosomal dominant medullary cystic kidney disease with or without hyperuricemia mondo_mondo_0008264_medgen_c4511620_orphanet_34149 MONDO:MONDO:0008264,MedGen:C4511620,Orphanet:34149 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Neurofibromatosis, type 1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Keratoderma-ichthyosis-deafness syndrome, autosomal recessive mondo_mondo_0859278_medgen_c5774200_omim_620009 MONDO:MONDO:0859278,MedGen:C5774200,OMIM:620009 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Hyperinsulinism due to HNF1A deficiency mondo_mondo_0017935_medgen_c4303475_orphanet_324575 MONDO:MONDO:0017935,MedGen:C4303475,Orphanet:324575 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A HNF1A-related disorders hnf1a_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A DiGeorge syndrome mondo_mondo_0008564_medgen_c0012236_omim_188400_orphanet_567 MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400,Orphanet:567 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Clear cell carcinoma of kidney human_phenotype_ontology_hp_0006770_mondo_mondo_0005005_medgen_c0279702_orphanet_319276 Human_Phenotype_Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702,Orphanet:319276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMX1 Isolated microphthalmia 6 mondo_mondo_0013293_medgen_c3150757_omim_613517_orphanet_2542 MONDO:MONDO:0013293,MedGen:C3150757,OMIM:613517,Orphanet:2542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMOX1 Chronic obstructive pulmonary disease human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMMR Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCS2 HMGCS2-related disorder hmgcs2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCR Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGB1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGB1 HMGB1-associated disorder hmgb1_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGA2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMCN1 Age related macular degeneration 1 mondo_mondo_0011285_medgen_c1864205_omim_603075 MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Vomiting human_phenotype_ontology_hp_0002013_medgen_c0042963 Human_Phenotype_Ontology:HP:0002013,MedGen:C0042963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Visual loss human_phenotype_ontology_hp_0000572_medgen_c3665386 Human_Phenotype_Ontology:HP:0000572,MedGen:C3665386 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Fever human_phenotype_ontology_hp_0001945_medgen_c0015967 Human_Phenotype_Ontology:HP:0001945,MedGen:C0015967 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Emotional lability human_phenotype_ontology_hp_0000712_human_phenotype_ontology_hp_0000720_human_phenotype_ontology_hp_0001575_human_phenotype_ontology_hp_0008766_medgen_c0085633 Human_Phenotype_Ontology:HP:0000712,Human_Phenotype_Ontology:HP:0000720,Human_Phenotype_Ontology:HP:0001575,Human_Phenotype_Ontology:HP:0008766,MedGen:C0085633 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Elevated urinary delta-aminolevulinic acid human_phenotype_ontology_hp_0003163_medgen_c1848702 Human_Phenotype_Ontology:HP:0003163,MedGen:C1848702 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Anxiety human_phenotype_ontology_hp_0000739_mondo_mondo_0011918_medgen_c0003467_omim_607834 Human_Phenotype_Ontology:HP:0000739,MONDO:MONDO:0011918,MedGen:C0003467,OMIM:607834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Acute episodes of neuropathic symptoms human_phenotype_ontology_hp_0003489_medgen_c1867971 Human_Phenotype_Ontology:HP:0003489,MedGen:C1867971 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Abnormal circulating porphyrin concentration human_phenotype_ontology_hp_0010472_medgen_c4023814 Human_Phenotype_Ontology:HP:0010472,MedGen:C4023814 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HLA-DRB1 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HLA-DRB1 Multiple sclerosis, susceptibility to mondo_mondo_0007462_medgen_c1868685_omim_126200_omim_ps126200 MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HLA-DQB1 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HLA-B EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HLA-A Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HKDC1 Nonsyndromic cleft lip palate nonsyndromic_cleft_lip_palate . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HK1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HJV Juvenile hemochromatosis mondo_mondo_0019257_medgen_c0268060_orphanet_79230 MONDO:MONDO:0019257,MedGen:C0268060,Orphanet:79230 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HJV HJV-related disorder hjv_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIVEP2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIVEP2 HP:0000750; HP:0001263 hp_0000750_hp_0001263 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIPK4 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HINT1 Sensory axonal neuropathy human_phenotype_ontology_hp_0003390_human_phenotype_ontology_hp_0006883_human_phenotype_ontology_hp_0007248_human_phenotype_ontology_hp_0007345_medgen_c1842587 Human_Phenotype_Ontology:HP:0003390,Human_Phenotype_Ontology:HP:0006883,Human_Phenotype_Ontology:HP:0007248,Human_Phenotype_Ontology:HP:0007345,MedGen:C1842587 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIKESHI Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIKESHI HIKESHI-related disorder hikeshi_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIF1A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HID1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIBCH Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency medgen_c4283745 MedGen:C4283745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIBCH HIBCH-related disorder hibch_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HHAT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT Synovial plica syndrome mondo_mondo_0001468_medgen_c0554601 MONDO:MONDO:0001468,MedGen:C0554601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT Mucopolysaccharidosis mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT HGSNAT-related disorder hgsnat_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGF Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFM1 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE Juvenile hemochromatosis mondo_mondo_0019257_medgen_c0268060_orphanet_79230 MONDO:MONDO:0019257,MedGen:C0268060,Orphanet:79230 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEY2 Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXB Sandhoff disease, chronic medgen_c4310842 MedGen:C4310842 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXB HEXB-related disorder hexb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Tay-Sachs disease, variant AB mondo_mondo_0010099_medgen_c0268275_omim_272750_orphanet_309246 MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750,Orphanet:309246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA TAY-SACHS DISEASE, JUVENILE medgen_c1848913 MedGen:C1848913 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Gm2-gangliosidosis, adult medgen_c2874270 MedGen:C2874270 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA GM2-gangliosidosis, adult-onset medgen_c4310893 MedGen:C4310893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA GM2-ganglioside accumulation human_phenotype_ontology_hp_0003495_medgen_c1848920 Human_Phenotype_Ontology:HP:0003495,MedGen:C1848920 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA GM2-GANGLIOSIDOSIS, CHRONIC medgen_c4016988 MedGen:C4016988 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA GM2-GANGLIOSIDOSIS, B1 VARIANT medgen_c2749283 MedGen:C2749283 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HESX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Vertebral fusion human_phenotype_ontology_hp_0002807_human_phenotype_ontology_hp_0002948_human_phenotype_ontology_hp_0008471_human_phenotype_ontology_hp_0008485_medgen_c3278509 Human_Phenotype_Ontology:HP:0002807,Human_Phenotype_Ontology:HP:0002948,Human_Phenotype_Ontology:HP:0008471,Human_Phenotype_Ontology:HP:0008485,MedGen:C3278509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Thoracolumbar kyphoscoliosis human_phenotype_ontology_hp_0003423_medgen_c1859335 Human_Phenotype_Ontology:HP:0003423,MedGen:C1859335 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Thoracic scoliosis human_phenotype_ontology_hp_0002943_human_phenotype_ontology_hp_0004615_medgen_c1857790 Human_Phenotype_Ontology:HP:0002943,Human_Phenotype_Ontology:HP:0004615,MedGen:C1857790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Thoracic kyphoscoliosis human_phenotype_ontology_hp_0005659_medgen_c4015465 Human_Phenotype_Ontology:HP:0005659,MedGen:C4015465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Tapered finger human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Spondylocostal dysostosis 2, autosomal recessive mondo_mondo_0012097_medgen_c1837549_omim_608681_orphanet_2311 MONDO:MONDO:0012097,MedGen:C1837549,OMIM:608681,Orphanet:2311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Short neck human_phenotype_ontology_hp_0000470_human_phenotype_ontology_hp_0005992_human_phenotype_ontology_hp_0200137_medgen_c0521525 Human_Phenotype_Ontology:HP:0000470,Human_Phenotype_Ontology:HP:0005992,Human_Phenotype_Ontology:HP:0200137,MedGen:C0521525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Severe failure to thrive human_phenotype_ontology_hp_0001525_human_phenotype_ontology_hp_0008876_medgen_c1855514 Human_Phenotype_Ontology:HP:0001525,Human_Phenotype_Ontology:HP:0008876,MedGen:C1855514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Progressive microcephaly human_phenotype_ontology_hp_0000253_medgen_c1850456 Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Progressive congenital scoliosis human_phenotype_ontology_hp_0008458_medgen_c1857025 Human_Phenotype_Ontology:HP:0008458,MedGen:C1857025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Neuropathic spinal arthropathy human_phenotype_ontology_hp_0008443_medgen_c5702564 Human_Phenotype_Ontology:HP:0008443,MedGen:C5702564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Mitral regurgitation human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Mild malformation of cortical development human_phenotype_ontology_hp_0032059_medgen_c4732830 Human_Phenotype_Ontology:HP:0032059,MedGen:C4732830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Mild global developmental delay human_phenotype_ontology_hp_0011342_medgen_c4012968 Human_Phenotype_Ontology:HP:0011342,MedGen:C4012968 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Lumbar kyphoscoliosis human_phenotype_ontology_hp_0004619_medgen_c1834953 Human_Phenotype_Ontology:HP:0004619,MedGen:C1834953 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Hypophosphatemia human_phenotype_ontology_hp_0002148_mondo_mondo_0000313_medgen_c0085682 Human_Phenotype_Ontology:HP:0002148,MONDO:MONDO:0000313,MedGen:C0085682 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Hemivertebrae human_phenotype_ontology_hp_0002937_medgen_c0265677 Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Failure to thrive in infancy human_phenotype_ontology_hp_0001531_human_phenotype_ontology_hp_0008863_human_phenotype_ontology_hp_0008925_medgen_c1867873 Human_Phenotype_Ontology:HP:0001531,Human_Phenotype_Ontology:HP:0008863,Human_Phenotype_Ontology:HP:0008925,MedGen:C1867873 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Disproportionate short stature human_phenotype_ontology_hp_0003498_human_phenotype_ontology_hp_0008895_human_phenotype_ontology_hp_0008900_medgen_c0878659 Human_Phenotype_Ontology:HP:0003498,Human_Phenotype_Ontology:HP:0008895,Human_Phenotype_Ontology:HP:0008900,MedGen:C0878659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Delayed fine motor development human_phenotype_ontology_hp_0010862_medgen_c4023681 Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Delayed ability to walk human_phenotype_ontology_hp_0031936_medgen_c0241726 Human_Phenotype_Ontology:HP:0031936,MedGen:C0241726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Delayed ability to stand human_phenotype_ontology_hp_0025335_medgen_c4476709 Human_Phenotype_Ontology:HP:0025335,MedGen:C4476709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Decreased body weight human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Congenital elevation of scapula human_phenotype_ontology_hp_0000912_human_phenotype_ontology_hp_0006621_mondo_mondo_0008482_medgen_c0152438_omim_184400_orphanet_3181 Human_Phenotype_Ontology:HP:0000912,Human_Phenotype_Ontology:HP:0006621,MONDO:MONDO:0008482,MedGen:C0152438,OMIM:184400,Orphanet:3181 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Childhood-onset short-trunk short stature human_phenotype_ontology_hp_0003522_human_phenotype_ontology_hp_0008922_medgen_c3148833 Human_Phenotype_Ontology:HP:0003522,Human_Phenotype_Ontology:HP:0008922,MedGen:C3148833 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Brachycephaly human_phenotype_ontology_hp_0000248_human_phenotype_ontology_hp_0002258_human_phenotype_ontology_hp_0004479_human_phenotype_ontology_hp_0008512_medgen_c0221356_orphanet_35099 Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MedGen:C0221356,Orphanet:35099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HES7 Abnormal form of the vertebral bodies human_phenotype_ontology_hp_0003312_medgen_c1839326 Human_Phenotype_Ontology:HP:0003312,MedGen:C1839326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERPUD1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Paraparesis human_phenotype_ontology_hp_0002385_medgen_c0221166 Human_Phenotype_Ontology:HP:0002385,MedGen:C0221166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Optic nerve hypoplasia human_phenotype_ontology_hp_0000609_human_phenotype_ontology_hp_0007273_medgen_c0338502 Human_Phenotype_Ontology:HP:0000609,Human_Phenotype_Ontology:HP:0007273,MedGen:C0338502 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Global brain atrophy human_phenotype_ontology_hp_0002283_human_phenotype_ontology_hp_0002369_human_phenotype_ontology_hp_0002462_medgen_c0241816 Human_Phenotype_Ontology:HP:0002283,Human_Phenotype_Ontology:HP:0002369,Human_Phenotype_Ontology:HP:0002462,MedGen:C0241816 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HERC2 Aplasia/Hypoplasia of the cerebellum human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEPHL1 Pili torti-developmental delay-neurological abnormalities syndrome mondo_mondo_0009871_medgen_c1849811_omim_261990_orphanet_2891 MONDO:MONDO:0009871,MedGen:C1849811,OMIM:261990,Orphanet:2891 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 1 mondo_mondo_0024555_medgen_c5779875_omim_604004_orphanet_2478 MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004,Orphanet:2478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEPACAM MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_impaired_intellectual_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEPACAM HEPACAM-related disorder hepacam_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HELZ Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HELLS HELLS-related disorder hells_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECW2 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies mondo_mondo_0060502_medgen_c4479631_omim_617527_orphanet_521426 MONDO:MONDO:0060502,MedGen:C4479631,OMIM:617527,Orphanet:521426 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECW2 Neurodevelopmental disorder with hypotonia neurodevelopmental_disorder_with_hypotonia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECW2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECTD4 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECTD4 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECTD1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECTD1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECTD1 HECTD1-associated neurodevelopmental disorder hectd1_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEATR5B Neurological syndrome with pontocerebellar hypoplasia neurological_syndrome_with_pontocerebellar_hypoplasia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEATR4 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Sparse scalp hair human_phenotype_ontology_hp_0002209_human_phenotype_ontology_hp_0002233_human_phenotype_ontology_hp_0002556_human_phenotype_ontology_hp_0004534_human_phenotype_ontology_hp_0004541_human_phenotype_ontology_hp_0004542_human_phenotype_ontology_hp_0004772_human_phenotype_ontology_hp_0004774_human_phenotype_ontology_hp_0004775_medgen_c1857042 Human_Phenotype_Ontology:HP:0002209,Human_Phenotype_Ontology:HP:0002233,Human_Phenotype_Ontology:HP:0002556,Human_Phenotype_Ontology:HP:0004534,Human_Phenotype_Ontology:HP:0004541,Human_Phenotype_Ontology:HP:0004542,Human_Phenotype_Ontology:HP:0004772,Human_Phenotype_Ontology:HP:0004774,Human_Phenotype_Ontology:HP:0004775,MedGen:C1857042 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 HDAC8-related disorder hdac8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Clinodactyly of the 5th finger human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Abnormality of the face human_phenotype_ontology_hp_0000271_medgen_c4025871 Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 4-5 finger cutaneous syndactyly human_phenotype_ontology_hp_0010705_medgen_c4023731 Human_Phenotype_Ontology:HP:0010705,MedGen:C4023731 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 Profound intellectual disability human_phenotype_ontology_hp_0002187_medgen_c3161330 Human_Phenotype_Ontology:HP:0002187,MedGen:C3161330 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 HDAC4-related disorder hdac4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC4 Brachydactyly syndrome type E medgen_c0265312 MedGen:C0265312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCRT Narcolepsy 1 mondo_mondo_0008062_medgen_c1834372_omim_161400_orphanet_2073 MONDO:MONDO:0008062,MedGen:C1834372,OMIM:161400,Orphanet:2073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN2 Febrile seizures, familial, 2 mondo_mondo_0011231_medgen_c1865342 MONDO:MONDO:0011231,MedGen:C1865342 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN2 Epilepsy, idiopathic generalized, susceptibility to, 17 mondo_mondo_0100519_medgen_c5561931_omim_602477 MONDO:MONDO:0100519,MedGen:C5561931,OMIM:602477 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN2 Combined oxidative phosphorylation deficiency 55 mondo_mondo_0859228_medgen_c5676915_omim_619743 MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 Febrile seizure (within the age range of 3 months to 6 years) human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCN1 Color vision defect human_phenotype_ontology_hp_0000551_medgen_c0234629 Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCK condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCK Autoinflammation with pulmonary and cutaneous vasculitis mondo_mondo_0957204_medgen_c5830371_omim_620296 MONDO:MONDO:0957204,MedGen:C5830371,OMIM:620296 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCFC1 HCFC1-related disorders hcfc1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HCCS HCCS-related disorder hccs_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBG1 Sardinian HPFH medgen_c3891817 MedGen:C3891817 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBG1 Greek HPFH medgen_c4017537 MedGen:C4017537 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBG1 British HPFH medgen_c4017538 MedGen:C4017538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD alpha Thalassemia mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD Reduced beta/alpha synthesis ratio human_phenotype_ontology_hp_0011906_medgen_c4023137 Human_Phenotype_Ontology:HP:0011906,MedGen:C4023137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD Persistence of hemoglobin F human_phenotype_ontology_hp_0011904_medgen_c0239941 Human_Phenotype_Ontology:HP:0011904,MedGen:C0239941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD HEMOGLOBIN A(2) GROVETOWN hemoglobin_a_2_grovetown . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD HEMOGLOBIN A(2) BABINGA hemoglobin_a_2_babinga . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD Delta-plus-thalassemia medgen_c4016190 MedGen:C4016190 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBD Abnormal hemoglobin human_phenotype_ontology_hp_0011902_medgen_c0349705 Human_Phenotype_Ontology:HP:0011902,MedGen:C0349705 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Sickle cell-Hemoglobin O Arab disease medgen_c1264000 MedGen:C1264000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Reduced beta/alpha synthesis ratio human_phenotype_ontology_hp_0011906_medgen_c4023137 Human_Phenotype_Ontology:HP:0011906,MedGen:C4023137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Persistence of hemoglobin F human_phenotype_ontology_hp_0011904_medgen_c0239941 Human_Phenotype_Ontology:HP:0011904,MedGen:C0239941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Inherited hemoglobinopathy mondo_mondo_0019050_medgen_cn294187_orphanet_68364 MONDO:MONDO:0019050,MedGen:CN294187,Orphanet:68364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hemoglobin E/beta thalassemia disease mondo_mondo_0016491_medgen_c0472777_orphanet_231249 MONDO:MONDO:0016491,MedGen:C0472777,Orphanet:231249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hemoglobin E disease mondo_mondo_0016243_medgen_c0238159_orphanet_2133 MONDO:MONDO:0016243,MedGen:C0238159,Orphanet:2133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hemoglobin E medgen_c3889325 MedGen:C3889325 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hemoglobin D disease mondo_mondo_0019537_medgen_c0272080_orphanet_90039 MONDO:MONDO:0019537,MedGen:C0272080,Orphanet:90039 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hb D-Los Angeles hb_d_los_angeles . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ZURICH hemoglobin_zurich . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ZENGCHENG hemoglobin_zengcheng . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN YPSILANTI hemoglobin_ypsilanti . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN YORK hemoglobin_york . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN YAKIMA hemoglobin_yakima . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN WOOD hemoglobin_wood . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN VOLGA hemoglobin_volga . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN VANDERBILT hemoglobin_vanderbilt . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN TERRE HAUTE hemoglobin_terre_haute . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SYRACUSE hemoglobin_syracuse . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ST. LOUIS hemoglobin_st_louis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SHOWA-YAKUSHIJI hemoglobin_showa_yakushiji . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SHANGHAI hemoglobin_shanghai . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SANTA CLARA hemoglobin_santa_clara . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SANTA ANA hemoglobin_santa_ana . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SAN DIEGO hemoglobin_san_diego . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SAINT JACQUES hemoglobin_saint_jacques . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SAINT ETIENNE hemoglobin_saint_etienne . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN SABINE hemoglobin_sabine . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN S medgen_c3888302 MedGen:C3888302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN RUSH hemoglobin_rush . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ROCKFORD hemoglobin_rockford . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN RAINIER hemoglobin_rainier . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN RAHERE hemoglobin_rahere . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN RADCLIFFE hemoglobin_radcliffe . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN PUTTELANGE hemoglobin_puttelange . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN PROVIDENCE hemoglobin_providence . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN POTOMAC hemoglobin_potomac . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN PIERRE-BENITE hemoglobin_pierre_benite . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN PERTH hemoglobin_perth . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN PALMERSTON NORTH hemoglobin_palmerston_north . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN OLYMPIA hemoglobin_olympia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN O (ARAB) hemoglobin_o_arab . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN N (TIMONE) hemoglobin_n_timone . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN MIZUHO hemoglobin_mizuho . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN MIYADA hemoglobin_miyada . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN MCKEES ROCKS hemoglobin_mckees_rocks . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN MANHATTAN hemoglobin_manhattan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN MALMO hemoglobin_malmo . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN MALAY hemoglobin_malay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN MADRID hemoglobin_madrid . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN M (SASKATOON) hemoglobin_m_saskatoon . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE hemoglobin_m_radom_methemoglobinemia_beta_type . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN M (MILWAUKEE 2) hemoglobin_m_milwaukee_2 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN M (MILWAUKEE 1) hemoglobin_m_milwaukee_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN M (HYDE PARK) hemoglobin_m_hyde_park . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN M (AKITA) hemoglobin_m_akita . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN LUFKIN hemoglobin_lufkin . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN LEIDEN hemoglobin_leiden . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN KOREA hemoglobin_korea . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN KOBE hemoglobin_kobe . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN KNOSSOS hemoglobin_knossos . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN KEMPSEY hemoglobin_kempsey . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN JOHNSTOWN hemoglobin_johnstown . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN INDIANAPOLIS hemoglobin_indianapolis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN HYOGO hemoglobin_hyogo . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN HOTEL-DIEU hemoglobin_hotel_dieu . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN HIROSHIMA hemoglobin_hiroshima . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN HELSINKI hemoglobin_helsinki . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN HEATHROW hemoglobin_heathrow . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN HANA hemoglobin_hana . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN HAMMERSMITH hemoglobin_hammersmith . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN GREAT LAKES hemoglobin_great_lakes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN GENOVA hemoglobin_genova . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN EGYPT hemoglobin_egypt . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN DURHAM-N.C hemoglobin_durham_n_c . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN DRENTHE hemoglobin_drenthe . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN DIEPPE hemoglobin_dieppe . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN CRETEIL hemoglobin_creteil . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN COWTOWN hemoglobin_cowtown . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN CHICO hemoglobin_chico . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN CHIBA hemoglobin_chiba . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN CHEMILLY hemoglobin_chemilly . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN CAGLIARI hemoglobin_cagliari . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN C hemoglobin_c . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN BRITISH COLUMBIA hemoglobin_british_columbia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN BRISTOL hemoglobin_bristol . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN BRISBANE hemoglobin_brisbane . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN BRIGHAM hemoglobin_brigham . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN BRESCIA hemoglobin_brescia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN BORAS hemoglobin_boras . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN BETHESDA hemoglobin_bethesda . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN BARCELONA hemoglobin_barcelona . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ARTA hemoglobin_arta . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ANDREW-MINNEAPOLIS hemoglobin_andrew_minneapolis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ALESHA hemoglobin_alesha . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ALBERTA hemoglobin_alberta . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ABRUZZO hemoglobin_abruzzo . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HEMOGLOBIN ABRAHAM LINCOLN hemoglobin_abraham_lincoln . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HBB-related hemoglobinopathies hbb_related_hemoglobinopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Erythrocytosis medgen_c1527405 MedGen:C1527405 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Beta-Showa-Yakushiji thalassemia medgen_c4017522 MedGen:C4017522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Beta-Malay-thalassemia medgen_c4017510 MedGen:C4017510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Beta-Knossos-thalassemia medgen_c4017494 MedGen:C4017494 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB BETA-THALASSEMIA, LERMONTOV TYPE medgen_c4017528 MedGen:C4017528 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB BETA-PLUS-THALASSEMIA, DOMINANT medgen_c4017525 MedGen:C4017525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Abnormal hemoglobin human_phenotype_ontology_hp_0011902_medgen_c0349705 Human_Phenotype_Ontology:HP:0011902,MedGen:C0349705 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Thalassemia mondo_mondo_0000984_medgen_c0039730 MONDO:MONDO:0000984,MedGen:C0039730 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Splenomegaly human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Hemoglobin constant spring medgen_c3891114 MedGen:C3891114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Hemoglobin Quong Sze hemoglobin_quong_sze . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN ZURICH ALBISRIEDEN hemoglobin_zurich_albisrieden . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN SUAN-DOK hemoglobin_suan_dok . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN SINAI hemoglobin_sinai . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN SEALY hemoglobin_sealy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN SEAL ROCK hemoglobin_seal_rock . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN SALLANCHES hemoglobin_sallanches . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN PLASENCIA hemoglobin_plasencia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN L (FERRARA) hemoglobin_l_ferrara . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN KOYA DORA hemoglobin_koya_dora . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN KANAGAWA hemoglobin_kanagawa . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN J (BUDA) hemoglobin_j_buda . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN ICARIA hemoglobin_icaria . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN HIROSAKI hemoglobin_hirosaki . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN HASHARON hemoglobin_hasharon . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN HANAMAKI hemoglobin_hanamaki . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN DARTMOUTH hemoglobin_dartmouth . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN COLUMBIA MISSOURI hemoglobin_columbia_missouri . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN CLINICO-MADRID hemoglobin_clinico_madrid . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 HEMOGLOBIN AGRINIO hemoglobin_agrinio . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Alpha-thalassemia-2, nondeletional medgen_c4016148 MedGen:C4016148 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Alpha-thalassemia, Hmong type medgen_c4016158 MedGen:C4016158 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Alpha-thalassemia and related diseases medgen_c5680751_orphanet_275745 MedGen:C5680751,Orphanet:275745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Alpha trait thalassemia medgen_c0472762 MedGen:C0472762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Abnormal hemoglobin human_phenotype_ontology_hp_0011902_medgen_c0349705 Human_Phenotype_Ontology:HP:0011902,MedGen:C0349705 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Splenomegaly human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Hemoglobin constant spring medgen_c3891114 MedGen:C3891114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN TUNIS-BIZERTE hemoglobin_tunis_bizerte . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN TOYAMA hemoglobin_toyama . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN TAYBE hemoglobin_taybe . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN SURESNES hemoglobin_suresnes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN SASSARI hemoglobin_sassari . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN ROUEN hemoglobin_rouen . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN PETAH TIKVA hemoglobin_petah_tikva . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN NUNOBIKI hemoglobin_nunobiki . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN MILLEDGEVILLE hemoglobin_milledgeville . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN M (SENDAI) hemoglobin_m_sendai . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN M (OLDENBURG) hemoglobin_m_oldenburg . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN M (KANKAKEE) hemoglobin_m_kankakee . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN M (IWATE) hemoglobin_m_iwate . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN LOIRE hemoglobin_loire . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN LEGNANO hemoglobin_legnano . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN KANAGAWA hemoglobin_kanagawa . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN J (CAPE TOWN) hemoglobin_j_cape_town . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN HIROSAKI hemoglobin_hirosaki . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN ETHIOPIA hemoglobin_ethiopia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN CHESAPEAKE hemoglobin_chesapeake . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN AGHIA SOPHIA hemoglobin_aghia_sophia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 HEMOGLOBIN ADANA hemoglobin_adana . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Alpha-thalassemia and related diseases medgen_c5680751_orphanet_275745 MedGen:C5680751,Orphanet:275745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAX1 HAX1-related disorder hax1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Urinary urgency human_phenotype_ontology_hp_0000012_medgen_c0085606 Human_Phenotype_Ontology:HP:0000012,MedGen:C0085606 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Pes planus human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Joint laxity human_phenotype_ontology_hp_0001380_human_phenotype_ontology_hp_0001383_human_phenotype_ontology_hp_0001388_human_phenotype_ontology_hp_0002771_medgen_c0086437 Human_Phenotype_Ontology:HP:0001380,Human_Phenotype_Ontology:HP:0001383,Human_Phenotype_Ontology:HP:0001388,Human_Phenotype_Ontology:HP:0002771,MedGen:C0086437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Hammertoe human_phenotype_ontology_hp_0001765_medgen_c1136179 Human_Phenotype_Ontology:HP:0001765,MedGen:C1136179 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 HARS1-related multi-system ataxia syndrome hars1_related_multi_system_ataxia_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HARS1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAO1 glycolate oxidase deficiency glycolate_oxidase_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAND2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAND2 Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAMP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAMP Hemochromatosis, juvenile, digenic medgen_c3150862 MedGen:C3150862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAL Histidinemia human_phenotype_ontology_hp_0010906_mondo_mondo_0009345_medgen_c0220992_omim_235800_orphanet_2157 Human_Phenotype_Ontology:HP:0010906,MONDO:MONDO:0009345,MedGen:C0220992,OMIM:235800,Orphanet:2157 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHB Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy medgen_c5830693 MedGen:C5830693 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHB HADHA-related disorder hadha_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHA Metabolic disease mondo_mondo_0005066_medgen_c0025517 MONDO:MONDO:0005066,MedGen:C0025517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHA LCHAD deficiency with maternal acute fatty liver of pregnancy medgen_c1833202 MedGen:C1833202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADH Familial hyperinsulinism mondo_mondo_0017182_medgen_c3888018_orphanet_276525 MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACL1 Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 Psychomotor retardation medgen_c5441816 MedGen:C5441816 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 HACE1-related neurodevelopmental disorder hace1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 HACE1-related disorder hace1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAAO Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C5 H4C5-related disorder h4c5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C3 HIST1H4C-associated disorder hist1h4c_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C3 H4C3-related disorder h4c3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H4C3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3C1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3B H3-3B-related disorder h3_3b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H3-3A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H2AP Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H2AC17 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H2AC16 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 Pitt-Hopkins syndrome mondo_mondo_0012589_medgen_c1970431_omim_610954_orphanet_2896 MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:2896 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 HIST1H1E-related neurodevelopmental disorder with multiple anomalies hist1h1e_related_neurodevelopmental_disorder_with_multiple_anomalies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 H1-4-related disorder h1_4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYS1 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYPA BLOOD GROUP ERIK medgen_c4694044 MedGen:C4694044 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYG1 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYG1 GYG1-related disorder gyg1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYG1 Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUSB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUF1 Developmental and epileptic encephalopathy, 40 mondo_mondo_0014895_medgen_c4310737_omim_617065_orphanet_3451 MONDO:MONDO:0014895,MedGen:C4310737,OMIM:617065,Orphanet:3451 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D maculopathy maculopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Progressive cone dystrophy (without rod involvement) medgen_c0271092 MedGen:C0271092 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D POLR-related leukodystrophy mondo_mondo_0100605_medgen_c5679947_orphanet_289494 MONDO:MONDO:0100605,MedGen:C5679947,Orphanet:289494 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D GUCY2D retinopathy mondo_mondo_0100454_medgen_cn305604 MONDO:MONDO:0100454,MedGen:CN305604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Congenital blindness human_phenotype_ontology_hp_0007706_human_phenotype_ontology_hp_0007875_medgen_c0005754 Human_Phenotype_Ontology:HP:0007706,Human_Phenotype_Ontology:HP:0007875,MedGen:C0005754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Autosomal recessive congenital ichthyosis 3 mondo_mondo_0011680_medgen_c3539888_omim_606545 MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2C Reduced number of intrahepatic bile ducts human_phenotype_ontology_hp_0006571_medgen_c4021591 Human_Phenotype_Ontology:HP:0006571,MedGen:C4021591 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2C Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency mondo_mondo_0013843_medgen_c4518781_omim_614665_orphanet_314376 MONDO:MONDO:0013843,MedGen:C4518781,OMIM:614665,Orphanet:314376 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2C Duodenal atresia human_phenotype_ontology_hp_0002247_mondo_mondo_0009126_medgen_c0266174_omim_223400_orphanet_1203 Human_Phenotype_Ontology:HP:0002247,MONDO:MONDO:0009126,MedGen:C0266174,OMIM:223400,Orphanet:1203 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2C Asplenia human_phenotype_ontology_hp_0001746_medgen_c5779621 Human_Phenotype_Ontology:HP:0001746,MedGen:C5779621 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2C Abnormal biliary tract morphology human_phenotype_ontology_hp_0012440_medgen_c4021086 Human_Phenotype_Ontology:HP:0012440,MedGen:C4021086 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY1A1 Myocardial infarction, susceptibility to, 1 medgen_c1838021 MedGen:C1838021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1B Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1B Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1B Cone dystrophy 3 mondo_mondo_0011193_medgen_c1865869_omim_602093_orphanet_1872 MONDO:MONDO:0011193,MedGen:C1865869,OMIM:602093,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUCA1A Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTPBP3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTPBP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF3C3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF3C3 Chromosome 2q32-q33 deletion syndrome mondo_mondo_0012864_medgen_c2676739_omim_612313_orphanet_251019 MONDO:MONDO:0012864,MedGen:C2676739,OMIM:612313,Orphanet:251019 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF3C1 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF3C1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GTF2IRD1 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSTZ1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSTZ1 GSTZ1-related disorder gstz1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSTT2B Megalencephalic leukoencephalopathy with subcortical cysts 1 mondo_mondo_0024555_medgen_c5779875_omim_604004_orphanet_2478 MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004,Orphanet:2478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSTP1 Kala-azar susceptibility 2 mondo_mondo_0012660_medgen_c1969649_omim_611381 MONDO:MONDO:0012660,MedGen:C1969649,OMIM:611381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSS GSS-related disorder gss_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSR condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSPT2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSPT2 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSPT2 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSK3B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSDME Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSDME Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR1 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRXCR1 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Primary progressive aphasia mondo_mondo_0019806_medgen_c0282513_orphanet_95432 MONDO:MONDO:0019806,MedGen:C0282513,Orphanet:95432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Parkinsonian disorder human_phenotype_ontology_hp_0001300_mondo_mondo_0021095_medgen_c0242422 Human_Phenotype_Ontology:HP:0001300,MONDO:MONDO:0021095,MedGen:C0242422 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Cognitive impairment human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Amyotrophic lateral sclerosis type 10 mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Alzheimer disease human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM7 Bilateral multifocal epileptiform discharges human_phenotype_ontology_hp_0011189_medgen_c4023485 Human_Phenotype_Ontology:HP:0011189,MedGen:C4023485 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM6 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM6 Congenital stationary night blindness 1C mondo_mondo_0013183_medgen_c2750747_omim_613216_orphanet_215 MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRM1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRK1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRK1 Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIP1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Sleep disturbance human_phenotype_ontology_hp_0002360_medgen_c0037317 Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Long fingers human_phenotype_ontology_hp_0006010_human_phenotype_ontology_hp_0100807_medgen_c1858091 Human_Phenotype_Ontology:HP:0006010,Human_Phenotype_Ontology:HP:0100807,MedGen:C1858091 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Astigmatism human_phenotype_ontology_hp_0000483_mondo_mondo_0011284_medgen_c0004106_omim_603047 Human_Phenotype_Ontology:HP:0000483,MONDO:MONDO:0011284,MedGen:C0004106,OMIM:603047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A GRIN2A-related disorders grin2a_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A GRIN2A-related complex neurodevelopmental disorder mondo_mondo_1060139_medgen_cn379781 MONDO:MONDO:1060139,MedGen:CN379781 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation mondo_mondo_0017325_medgen_c4749281_orphanet_289266 MONDO:MONDO:0017325,MedGen:C4749281,Orphanet:289266 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Dystonia, intellectual disability and language impairment dystonia_intellectual_disability_and_language_impairment . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A CTCF-related neurodevelopmental disorder mondo_mondo_0014213_medgen_c3809686_omim_615502_orphanet_363611 MONDO:MONDO:0014213,MedGen:C3809686,OMIM:615502,Orphanet:363611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES, AUTOSOMAL RECESSIVE neurodevelopmental_disorder_with_hyperkinetic_movements_with_or_without_seizures_autosomal_recessive . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT neurodevelopmental_disorder_with_hyperkinetic_movements_and_with_or_without_seizures_autosomal_dominant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Profound global developmental delay human_phenotype_ontology_hp_0012736_medgen_c3553450 Human_Phenotype_Ontology:HP:0012736,MedGen:C3553450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Intellectual disability, autosomal recessive 6 mondo_mondo_0012614_medgen_c1970198_omim_611092_orphanet_88616 MONDO:MONDO:0012614,MedGen:C1970198,OMIM:611092,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Gait ataxia human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 GRIK2-related neurodevelopmental disorder grik2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 GRIK2-related disorder grik2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Cerebral visual impairment human_phenotype_ontology_hp_0000595_human_phenotype_ontology_hp_0100704_medgen_c4048268_orphanet_447788 Human_Phenotype_Ontology:HP:0000595,Human_Phenotype_Ontology:HP:0100704,MedGen:C4048268,Orphanet:447788 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIK2 Abnormal cerebral white matter morphology human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRID1 GRID1-associated neurodevelopmental disorder grid1_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA4 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 GRIA3-related complex neurodevelopmental disorder gria3_related_complex_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA3 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA2 GRIA2-related disorder gria2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA1 Non-syndromic intellectual disability mondo_mondo_0000509_medgen_cn280315 MONDO:MONDO:0000509,MedGen:CN280315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA1 GRIA1-related disorder gria1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHPR Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome mondo_mondo_0014744_medgen_c5569084_omim_616719_orphanet_466794 MONDO:MONDO:0014744,MedGen:C5569084,OMIM:616719,Orphanet:466794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHL3 GRHL3-related disorder grhl3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREM2 Tooth agenesis, selective, 9 mondo_mondo_0014999_medgen_c4310638_omim_617275 MONDO:MONDO:0014999,MedGen:C4310638,OMIM:617275 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Renal agenesis and hypodysplasia renal_agenesis_and_hypodysplasia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Profound hearing impairment human_phenotype_ontology_hp_0012715_medgen_c4022756 Human_Phenotype_Ontology:HP:0012715,MedGen:C4022756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRAP Hearing loss, autosomal recessive 114 mondo_mondo_0032761_medgen_c5193107_omim_618456 MONDO:MONDO:0032761,MedGen:C5193107,OMIM:618456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRAMD1B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPX4 GPX4-related disorder gpx4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPT2 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPSM2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPSM2 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPSM2 Breast-ovarian cancer, familial, susceptibility to, 2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR88 Chorea, childhood-onset, with psychomotor retardation mondo_mondo_0014839_medgen_c4310787_omim_616939 MONDO:MONDO:0014839,MedGen:C4310787,OMIM:616939 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR19 Multiple endocrine neoplasia type 4 mondo_mondo_0012552_medgen_c1970712_omim_610755_orphanet_276152 MONDO:MONDO:0012552,MedGen:C1970712,OMIM:610755,Orphanet:276152 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR179 GPR179-related disorder gpr179_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR179 Congenital stationary night blindness 1B mondo_mondo_0009758_medgen_c1850362_omim_257270_orphanet_215 MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR153 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Reduced eye contact human_phenotype_ontology_hp_0000817_medgen_c1445953 Human_Phenotype_Ontology:HP:0000817,MedGen:C1445953 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Albinism or congenital nystagmus albinism_or_congenital_nystagmus . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR101 Pituitary adenoma, growth hormone-secreting, 2 mondo_mondo_0010492_medgen_c4012409_omim_300943_orphanet_963 MONDO:MONDO:0010492,MedGen:C4012409,OMIM:300943,Orphanet:963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPN2 Perrault syndrome 1 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPIHBP1 Hyperlipoproteinemia, type I mondo_mondo_0009387_medgen_c0023817_omim_238600_orphanet_309015_orphanet_444490 MONDO:MONDO:0009387,MedGen:C0023817,OMIM:238600,Orphanet:309015,Orphanet:444490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPIHBP1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPI Hereditary spherocytosis mondo_mondo_0019350_medgen_c0037889_orphanet_822 MONDO:MONDO:0019350,MedGen:C0037889,Orphanet:822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPI GPI-related disorder gpi_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Stargardt disease mondo_mondo_0019353_medgen_c0271093_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Arachnoid cyst human_phenotype_ontology_hp_0100702_mondo_mondo_0008813_medgen_c0078981_orphanet_2356 Human_Phenotype_Ontology:HP:0100702,MONDO:MONDO:0008813,MedGen:C0078981,Orphanet:2356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Anxiety human_phenotype_ontology_hp_0000739_mondo_mondo_0011918_medgen_c0003467_omim_607834 Human_Phenotype_Ontology:HP:0000739,MONDO:MONDO:0011918,MedGen:C0003467,OMIM:607834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPD2 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC4 GPC4-related disorder gpc4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC4 Distal shortening of limbs human_phenotype_ontology_hp_0006402_medgen_c1840307 Human_Phenotype_Ontology:HP:0006402,MedGen:C1840307 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC4 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPAA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP9 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP9 GP9-related disorder gp9_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB Mild macrothrombocytopenia mild_macrothrombocytopenia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB Increased mean platelet volume human_phenotype_ontology_hp_0011877_medgen_c1096367 Human_Phenotype_Ontology:HP:0011877,MedGen:C1096367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB GP1BB-related disorder gp1bb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB Autosomal dominant macrothrombocytopenia mondo_mondo_0015372_medgen_c4304021_orphanet_140957 MONDO:MONDO:0015372,MedGen:C4304021,Orphanet:140957 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Impaired ristocetin-induced platelet aggregation human_phenotype_ontology_hp_0011871_medgen_c4023154 Human_Phenotype_Ontology:HP:0011871,MedGen:C4023154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOT1 ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c3280741_omim_614419 MedGen:C3280741,OMIM:614419 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOSR2 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GORAB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GORAB GORAB-related disorder gorab_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GON7 Galloway-Mowat syndrome mondo_mondo_0009627_medgen_c0795949_omim_ps251300_orphanet_2065 MONDO:MONDO:0009627,MedGen:C0795949,OMIM:PS251300,Orphanet:2065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOLGA2 Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNS GNS-related disorder gns_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Isolated GnRH Deficiency isolated_gnrh_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Infertility disorder human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Gonadotropin deficiency human_phenotype_ontology_hp_0008213_medgen_c4552011_orphanet_181387 Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Delayed puberty human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Mucolipidosis III alpha/beta, atypical medgen_c2673375 MedGen:C2673375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Legg-Calve-Perthes disease human_phenotype_ontology_hp_0003280_human_phenotype_ontology_hp_0005743_human_phenotype_ontology_hp_0006448_human_phenotype_ontology_hp_0010887_mondo_mondo_0007885_medgen_c1442965_omim_150600_orphanet_2380 Human_Phenotype_Ontology:HP:0003280,Human_Phenotype_Ontology:HP:0005743,Human_Phenotype_Ontology:HP:0006448,Human_Phenotype_Ontology:HP:0010887,MONDO:MONDO:0007885,MedGen:C1442965,OMIM:150600,Orphanet:2380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Juvenile osteochondrosis of spine human_phenotype_ontology_hp_0010891_mondo_mondo_0008410_medgen_c0036310_omim_181440_orphanet_3135 Human_Phenotype_Ontology:HP:0010891,MONDO:MONDO:0008410,MedGen:C0036310,OMIM:181440,Orphanet:3135 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPNAT1 Rhizomelic dysplasia, Ain-Naz type mondo_mondo_0859203_medgen_c5562013_omim_619598 MONDO:MONDO:0859203,MedGen:C5562013,OMIM:619598 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPAT GNPAT-related disorder gnpat_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNG3 Symphalangism affecting the proximal phalanx of the 4th finger human_phenotype_ontology_hp_0009314_medgen_c4024448 Human_Phenotype_Ontology:HP:0009314,MedGen:C4024448 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNG3 Reduced delayed hypersensitivity human_phenotype_ontology_hp_0002972_human_phenotype_ontology_hp_0005434_medgen_c1843386 Human_Phenotype_Ontology:HP:0002972,Human_Phenotype_Ontology:HP:0005434,MedGen:C1843386 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNG3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNG3 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNE Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNE Inclusion body myositis mondo_mondo_0007827_medgen_c0238190_omim_147421_orphanet_611 MONDO:MONDO:0007827,MedGen:C0238190,OMIM:147421,Orphanet:611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNE Hereditary nonpolyposis colon cancer mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND CARDIAC ARRHYTHMIA lodder_merla_syndrome_type_2_with_developmental_delay_and_cardiac_arrhythmia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 GNB5-reled disorder gnb5_reled_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB2 Sick sinus syndrome 4 mondo_mondo_0859173_medgen_c5561949_omim_619464 MONDO:MONDO:0859173,MedGen:C5561949,OMIM:619464 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB2 GNB2-related disorder gnb2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Upper limb hypertonia human_phenotype_ontology_hp_0200049_medgen_c4021898 Human_Phenotype_Ontology:HP:0200049,MedGen:C4021898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Myelodysplastic syndrome mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC leukemia_chronic_lymphocytic_somatic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Infantile axial hypotonia human_phenotype_ontology_hp_0009062_medgen_c3806604 Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Hypothyroidism human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 GNB1-related disorder gnb1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT2 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAT2 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS-AS1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS-AS1 Pseudopseudohypoparathyroidism mondo_mondo_0012912_medgen_c0033835_omim_612463_orphanet_79445 MONDO:MONDO:0012912,MedGen:C0033835,OMIM:612463,Orphanet:79445 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS-AS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS-AS1 Early onset severe obesity medgen_c4013980 MedGen:C4013980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Tetany human_phenotype_ontology_hp_0001281_medgen_c0039621 Human_Phenotype_Ontology:HP:0001281,MedGen:C0039621 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Subcutaneous nodule human_phenotype_ontology_hp_0001482_human_phenotype_ontology_hp_0005903_medgen_c0151811 Human_Phenotype_Ontology:HP:0001482,Human_Phenotype_Ontology:HP:0005903,MedGen:C0151811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Round face human_phenotype_ontology_hp_0000304_human_phenotype_ontology_hp_0000311_human_phenotype_ontology_hp_0004653_medgen_c0239479 Human_Phenotype_Ontology:HP:0000304,Human_Phenotype_Ontology:HP:0000311,Human_Phenotype_Ontology:HP:0004653,MedGen:C0239479 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS medgen_c4016140 MedGen:C4016140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS PHP Type 1a / PPHP php_type_1a_pphp . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Hypocalcemia human_phenotype_ontology_hp_0002901_medgen_c0020598 Human_Phenotype_Ontology:HP:0002901,MedGen:C0020598 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Hereditary spastic paraplegia 4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS GNAS-associated disease gnas_associated_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Early onset severe obesity medgen_c4013980 MedGen:C4013980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Cognitive impairment human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Brachydactyly human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ Hemangiomatosis human_phenotype_ontology_hp_0007461_medgen_c1384590 Human_Phenotype_Ontology:HP:0007461,MedGen:C1384590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ GNAQ-related disorder gnaq_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ Capillary malformation human_phenotype_ontology_hp_0025104_mondo_mondo_0016231_medgen_c0340803_orphanet_211247 Human_Phenotype_Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ Angioosteohypertrophic syndrome mondo_mondo_0007864_mesh_d007715_medgen_c0022739_omim_149000_orphanet_2346 MONDO:MONDO:0007864,MeSH:D007715,MedGen:C0022739,OMIM:149000,Orphanet:2346 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAQ Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Genetic developmental and epileptic encephalopathy mondo_mondo_0100062_medgen_cn379639_omim_ps308350 MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 GNAO1-Related Neurodevelopmental Disorder gnao1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Choreoathetosis human_phenotype_ontology_hp_0001266_human_phenotype_ontology_hp_0002469_human_phenotype_ontology_hp_0006811_human_phenotype_ontology_hp_0007028_human_phenotype_ontology_hp_0007337_medgen_c0085583 Human_Phenotype_Ontology:HP:0001266,Human_Phenotype_Ontology:HP:0002469,Human_Phenotype_Ontology:HP:0006811,Human_Phenotype_Ontology:HP:0007028,Human_Phenotype_Ontology:HP:0007337,MedGen:C0085583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAL Limb dystonia human_phenotype_ontology_hp_0002451_medgen_c0751093 Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAL GNAL-related disorder gnal_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAL Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI3 Achromatopsia 4 mondo_mondo_0013465_medgen_c1841721_omim_613856_orphanet_49382 MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Ventricular tachycardia, somatic medgen_c4016143 MedGen:C4016143 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Thecoma, somatic medgen_c2750844 MedGen:C2750844 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Retractile testis human_phenotype_ontology_hp_0012646_medgen_c0520578 Human_Phenotype_Ontology:HP:0012646,MedGen:C0520578 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Recurrent infections human_phenotype_ontology_hp_0002719_human_phenotype_ontology_hp_0002957_human_phenotype_ontology_hp_0002964_human_phenotype_ontology_hp_0005405_medgen_c0239998 Human_Phenotype_Ontology:HP:0002719,Human_Phenotype_Ontology:HP:0002957,Human_Phenotype_Ontology:HP:0002964,Human_Phenotype_Ontology:HP:0005405,MedGen:C0239998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Pituitary dependent hypercortisolism mondo_mondo_0009050_medgen_c0221406_omim_219090_orphanet_96253 MONDO:MONDO:0009050,MedGen:C0221406,OMIM:219090,Orphanet:96253 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Ovarian granulosa cell tumor mondo_mondo_0023283_medgen_c1370419 MONDO:MONDO:0023283,MedGen:C1370419 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Hypopituitarism human_phenotype_ontology_hp_0040075_mondo_mondo_0005152_medgen_c0020635 Human_Phenotype_Ontology:HP:0040075,MONDO:MONDO:0005152,MedGen:C0020635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Decreased circulating total IgM human_phenotype_ontology_hp_0002850_human_phenotype_ontology_hp_0003147_human_phenotype_ontology_hp_0005385_medgen_c0239989 Human_Phenotype_Ontology:HP:0002850,Human_Phenotype_Ontology:HP:0003147,Human_Phenotype_Ontology:HP:0005385,MedGen:C0239989 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI2 Adrenocortical tumor, somatic medgen_c4016392 MedGen:C4016392 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAI1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA14 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA14 Pyogenic granuloma mondo_mondo_0022096_medgen_c0085653 MONDO:MONDO:0022096,MedGen:C0085653 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA14 Kaposiform hemangioendothelioma mondo_mondo_0016236_medgen_c1367420_orphanet_2122 MONDO:MONDO:0016236,MedGen:C1367420,Orphanet:2122 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA14 Congenital tufted angioma congenital_tufted_angioma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA11 Venous malformation human_phenotype_ontology_hp_0012721_medgen_c2937220 Human_Phenotype_Ontology:HP:0012721,MedGen:C2937220 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA11 Vascular malformation mondo_mondo_0024291_medgen_c0158570 MONDO:MONDO:0024291,MedGen:C0158570 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA11 Familial multiple nevi flammei mondo_mondo_0008094_medgen_c2931029_omim_163000_orphanet_624 MONDO:MONDO:0008094,MedGen:C2931029,OMIM:163000,Orphanet:624 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNA11 Familial hypoparathyroidism mondo_mondo_0016390_medgen_c1832648_omim_ps146200_orphanet_2238 MONDO:MONDO:0016390,MedGen:C1832648,OMIM:PS146200,Orphanet:2238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Myopathy caused by variation in GMPPB mondo_mondo_0700084_medgen_cn305644 MONDO:MONDO:0700084,MedGen:CN305644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Autosomal recessive GMPPB-related disorders autosomal_recessive_gmppb_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPA Chromosomal instability with tissue-specific radiosensitivity mondo_mondo_0008983_medgen_c1859091_omim_215510 MONDO:MONDO:0008983,MedGen:C1859091,OMIM:215510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GM2A Tay-Sachs disease mondo_mondo_0010100_medgen_c0039373_omim_272800_orphanet_845 MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUD2 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUD1 GLUD1-related disorder glud1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUD1 Familial hyperinsulinism mondo_mondo_0017182_medgen_c3888018_orphanet_276525 MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLUD1 Familial hyperinsulinemia familial_hyperinsulinemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLT8D1 Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLS Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRX5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRB condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRB Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRA1 GLRA1-related disorder glra1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLMN Venous malformation human_phenotype_ontology_hp_0012721_medgen_c2937220 Human_Phenotype_Ontology:HP:0012721,MedGen:C2937220 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLMN Blue rubber bleb nevus mondo_mondo_0007203_medgen_c0346072_omim_112200_orphanet_1059 MONDO:MONDO:0007203,MedGen:C0346072,OMIM:112200,Orphanet:1059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLIS3 GLIS3-related disorder glis3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLIS2 Nephronophthisis 7 mondo_mondo_0012680_medgen_c1969092_omim_611498_orphanet_655 MONDO:MONDO:0012680,MedGen:C1969092,OMIM:611498,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLIS2 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLIS2 GLIS2-related disorder glis2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 polysyndactyly medgen_c0265553 MedGen:C0265553 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Postaxial polydactyly type A human_phenotype_ontology_hp_0005696_mondo_mondo_0019673_medgen_c3887487_orphanet_93334 Human_Phenotype_Ontology:HP:0005696,MONDO:MONDO:0019673,MedGen:C3887487,Orphanet:93334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Pituitary hormone deficiency pituitary_hormone_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Hand polydactyly human_phenotype_ontology_hp_0001161_medgen_c0158733 Human_Phenotype_Ontology:HP:0001161,MedGen:C0158733 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Greig cephalopolysyndactyly syndrome, severe medgen_c4016299 MedGen:C4016299 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome mondo_mondo_0014606_medgen_c4225351_omim_616364_orphanet_468678 MONDO:MONDO:0014606,MedGen:C4225351,OMIM:616364,Orphanet:468678 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Combined pituitary hormone deficiencies, genetic form mondo_mondo_0013099_medgen_c4273747_omim_ps613038_orphanet_95494 MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038,Orphanet:95494 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Cerebellar cyst human_phenotype_ontology_hp_0002350_medgen_c1847762 Human_Phenotype_Ontology:HP:0002350,MedGen:C1847762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLE1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Flexion contracture human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Congenital contracture human_phenotype_ontology_hp_0002803_mondo_mondo_0022823_medgen_c0332878 Human_Phenotype_Ontology:HP:0002803,MONDO:MONDO:0022823,MedGen:C0332878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Breathing dysregulation human_phenotype_ontology_hp_0005957_medgen_c3808046 Human_Phenotype_Ontology:HP:0005957,MedGen:C3808046 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC Smith-Magenis Syndrome-like smith_magenis_syndrome_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC Generalized epilepsy mondo_mondo_0100574_medgen_c0014548 MONDO:MONDO:0100574,MedGen:C0014548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 Spondyloepiphyseal dysplasia human_phenotype_ontology_hp_0002655_human_phenotype_ontology_hp_0002776_human_phenotype_ontology_hp_0005893_mondo_mondo_0016761_medgen_c0038015_orphanet_253 Human_Phenotype_Ontology:HP:0002655,Human_Phenotype_Ontology:HP:0002776,Human_Phenotype_Ontology:HP:0005893,MONDO:MONDO:0016761,MedGen:C0038015,Orphanet:253 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 Progressive familial intrahepatic cholestasis mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 Lysosomal storage disease mondo_mondo_0002561_medgen_c0085078_orphanet_68366 MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Hereditary coproporphyria mondo_mondo_0007369_medgen_c0162531_omim_121300_orphanet_79273 MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GK GK-related disorder gk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 Pelizaeus-Merzbacher disease human_phenotype_ontology_hp_0003269_mondo_mondo_0010714_medgen_c0205711_omim_312080_orphanet_702 Human_Phenotype_Ontology:HP:0003269,MONDO:MONDO:0010714,MedGen:C0205711,OMIM:312080,Orphanet:702 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 GJC2-related disorder gjc2_related_disorder MedGen:CN230087 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 X-linked mixed hearing loss with perilymphatic gusher mondo_mondo_0010576_medgen_c1844678_omim_304400_orphanet_383 MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 Nonsyndromic Deafness mesh_c580334_medgen_c3711374 MeSH:C580334,MedGen:C3711374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB6 GJB6-related disorder gjb6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB3 Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB3 Autosomal recessive nonsyndromic hearing loss 1A mondo_mondo_0009076_medgen_c2673759_omim_220290_orphanet_90636 MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB3 Autosomal dominant nonsyndromic hearing loss 2B mondo_mondo_0012976_medgen_c2675236_omim_612644_orphanet_90635 MONDO:MONDO:0012976,MedGen:C2675236,OMIM:612644,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Severe sensorineural hearing impairment human_phenotype_ontology_hp_0008534_human_phenotype_ontology_hp_0008574_human_phenotype_ontology_hp_0008625_medgen_c4021533 Human_Phenotype_Ontology:HP:0008534,Human_Phenotype_Ontology:HP:0008574,Human_Phenotype_Ontology:HP:0008625,MedGen:C4021533 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Progressive sensorineural hearing impairment human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Porokeratotic adnexal ostial nevus porokeratotic_adnexal_ostial_nevus . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 IFAP syndrome 1, with or without BRESHECK syndrome mondo_mondo_0100213_medgen_c5399971_omim_308205_orphanet_2273_orphanet_85284 MONDO:MONDO:0100213,MedGen:C5399971,OMIM:308205,Orphanet:2273,Orphanet:85284 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Deafness, digenic, GJB2/GJB6 medgen_c2673760 MedGen:C2673760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Deafness, digenic, GJB2/GJB3 medgen_c2673761 MedGen:C2673761 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 CREBBP-related disorder crebbp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Bilateral conductive hearing impairment human_phenotype_ontology_hp_0008513_human_phenotype_ontology_hp_0008536_medgen_c0452136 Human_Phenotype_Ontology:HP:0008513,Human_Phenotype_Ontology:HP:0008536,MedGen:C0452136 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 Hereditary neuropathy or pain disorder hereditary_neuropathy_or_pain_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 Hand muscle atrophy human_phenotype_ontology_hp_0006967_human_phenotype_ontology_hp_0008934_human_phenotype_ontology_hp_0008951_human_phenotype_ontology_hp_0009038_human_phenotype_ontology_hp_0009130_medgen_c0239830 Human_Phenotype_Ontology:HP:0006967,Human_Phenotype_Ontology:HP:0008934,Human_Phenotype_Ontology:HP:0008951,Human_Phenotype_Ontology:HP:0009038,Human_Phenotype_Ontology:HP:0009130,MedGen:C0239830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 GJB1-related disorder gjb1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 Dejerine-Sottas disease mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA8 acorea,microphthalmia and cataract syndrome acorea_microphthalmia_and_cataract_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA8 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA5 Atrial fibrillation, somatic medgen_c4015977 MedGen:C4015977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA4 Skin hemangioma mondo_mondo_0003110_medgen_c0687140 MONDO:MONDO:0003110,MedGen:C0687140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA4 Hepatic hemangioma human_phenotype_ontology_hp_0031207_mondo_mondo_0002404_medgen_c0238246 Human_Phenotype_Ontology:HP:0031207,MONDO:MONDO:0002404,MedGen:C0238246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA4 Cutaneous venous malformation cutaneous_venous_malformation . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA3 Congenital cataracts-facial dysmorphism-neuropathy syndrome mondo_mondo_0011402_medgen_c1858726_omim_604168_orphanet_48431 MONDO:MONDO:0011402,MedGen:C1858726,OMIM:604168,Orphanet:48431 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Underdeveloped nasal alae human_phenotype_ontology_hp_0000430_human_phenotype_ontology_hp_0004497_human_phenotype_ontology_hp_0004507_human_phenotype_ontology_hp_0005276_human_phenotype_ontology_hp_0005277_human_phenotype_ontology_hp_0005286_medgen_c1834055 Human_Phenotype_Ontology:HP:0000430,Human_Phenotype_Ontology:HP:0004497,Human_Phenotype_Ontology:HP:0004507,Human_Phenotype_Ontology:HP:0005276,Human_Phenotype_Ontology:HP:0005277,Human_Phenotype_Ontology:HP:0005286,MedGen:C1834055 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Sparse hair human_phenotype_ontology_hp_0002237_human_phenotype_ontology_hp_0002291_human_phenotype_ontology_hp_0004522_human_phenotype_ontology_hp_0004538_human_phenotype_ontology_hp_0008070_medgen_c5551005 Human_Phenotype_Ontology:HP:0002237,Human_Phenotype_Ontology:HP:0002291,Human_Phenotype_Ontology:HP:0004522,Human_Phenotype_Ontology:HP:0004538,Human_Phenotype_Ontology:HP:0008070,MedGen:C5551005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Narrow nasal bridge human_phenotype_ontology_hp_0000446_human_phenotype_ontology_hp_0100782_medgen_c4551564 Human_Phenotype_Ontology:HP:0000446,Human_Phenotype_Ontology:HP:0100782,MedGen:C4551564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Hypoplastic left heart syndrome 1 mondo_mondo_0009433_medgen_c4551854_omim_241550_orphanet_2248 MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550,Orphanet:2248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Finger syndactyly human_phenotype_ontology_hp_0006057_human_phenotype_ontology_hp_0006101_medgen_c0221352 Human_Phenotype_Ontology:HP:0006057,Human_Phenotype_Ontology:HP:0006101,MedGen:C0221352 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Edema of the dorsum of feet human_phenotype_ontology_hp_0012098_medgen_c2919341 Human_Phenotype_Ontology:HP:0012098,MedGen:C2919341 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Cutaneous finger syndactyly human_phenotype_ontology_hp_0001214_human_phenotype_ontology_hp_0005637_human_phenotype_ontology_hp_0006054_human_phenotype_ontology_hp_0006220_human_phenotype_ontology_hp_0010554_medgen_c4021254 Human_Phenotype_Ontology:HP:0001214,Human_Phenotype_Ontology:HP:0005637,Human_Phenotype_Ontology:HP:0006054,Human_Phenotype_Ontology:HP:0006220,Human_Phenotype_Ontology:HP:0010554,MedGen:C4021254 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Craniometaphyseal dysplasia, autosomal recessive mondo_mondo_0009035_medgen_c2931244_omim_218400_orphanet_1522 MONDO:MONDO:0009035,MedGen:C2931244,OMIM:218400,Orphanet:1522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Cleft upper lip human_phenotype_ontology_hp_0000204_mondo_mondo_0016043_medgen_c0008924_orphanet_199302 Human_Phenotype_Ontology:HP:0000204,MONDO:MONDO:0016043,MedGen:C0008924,Orphanet:199302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Bilateral microphthalmos human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Anteverted nares human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 4-5 finger cutaneous syndactyly human_phenotype_ontology_hp_0010705_medgen_c4023731 Human_Phenotype_Ontology:HP:0010705,MedGen:C4023731 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIPC3 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIPC3 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIPC3 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIPC3 GIPC3-related disorder gipc3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIMAP6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIMAP6 Primary Immune Deficiency primary_immune_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF2 Snowflake vitreoretinal degeneration human_phenotype_ontology_hp_0011533_mondo_mondo_0008663_medgen_c1860405_omim_193230_orphanet_91496 Human_Phenotype_Ontology:HP:0011533,MONDO:MONDO:0008663,MedGen:C1860405,OMIM:193230,Orphanet:91496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF2 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GIGYF1 GIGYF1-associated disorder gigyf1_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHSR condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHSR Short stature due to growth hormone secretagogue receptor deficiency mondo_mondo_0014403_medgen_c5887324_omim_615925_orphanet_314811 MONDO:MONDO:0014403,MedGen:C5887324,OMIM:615925,Orphanet:314811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GH1 GH1-related disorder gh1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GGPS1 Myopathy with tubular aggregates mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFRA1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFRA1 GFRA1-related disorder gfra1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFPT1 GFPT1-related myasthenic syndrome gfpt1_related_myasthenic_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFPT1 GFPT1-related disorder gfpt1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFPT1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM2 GFM2-related disorder gfm2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFI1B Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFI1B Storage pool disease of platelets mondo_mondo_0008495_medgen_c0032197_omim_185050_orphanet_734 MONDO:MONDO:0008495,MedGen:C0032197,OMIM:185050,Orphanet:734 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFI1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFI1B Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFI1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFI1 Neutropenia, severe congenital, 2, autosomal dominant mondo_mondo_0013139_medgen_c2751288_omim_613107_orphanet_486 MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFAP Spastic paraplegia, intellectual disability, nystagmus, and obesity mondo_mondo_0015007_medgen_c4284592_omim_617296_orphanet_521390 MONDO:MONDO:0015007,MedGen:C4284592,OMIM:617296,Orphanet:521390 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFAP Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFAP Progressive ventriculomegaly human_phenotype_ontology_hp_0007100_medgen_c1865119 Human_Phenotype_Ontology:HP:0007100,MedGen:C1865119 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFAP Metachromatic leukodystrophy mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFAP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GET3 Cardiomyopathy, dilated, 2H mondo_mondo_0859358_medgen_c5774296_omim_620203 MONDO:MONDO:0859358,MedGen:C5774296,OMIM:620203 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN5 GEMIN5-related neurodevelopmental disorder gemin5_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN4 Severe dystonia severe_dystonia MedGen:CN228291 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN4 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN4 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GEMIN4 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDI1 Non-syndromic X-linked intellectual disability mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDI1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF9 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF6 Multiple synostoses syndrome 4 mondo_mondo_0054752_medgen_c4693531_omim_617898 MONDO:MONDO:0054752,MedGen:C4693531,OMIM:617898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF6 Leber congenital amaurosis 17 mondo_mondo_0014145_medgen_c3715164_omim_615360_orphanet_65 MONDO:MONDO:0014145,MedGen:C3715164,OMIM:615360,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF6 Klippel-Feil syndrome 1, autosomal dominant mondo_mondo_0007306_medgen_c1861689_omim_118100_orphanet_2345 MONDO:MONDO:0007306,MedGen:C1861689,OMIM:118100,Orphanet:2345 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF2 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF2 GDF2-related vasculopathy gdf2_related_vasculopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF11 Vertebral hypersegmentation and orofacial anomalies mondo_mondo_0030871_medgen_c5436851_omim_619122 MONDO:MONDO:0030871,MedGen:C5436851,OMIM:619122 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF11 Orofacial cleft human_phenotype_ontology_hp_0000202_mondo_mondo_0000358_medgen_c3266076_omim_ps119530 Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Visceral heterotaxy mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Transposition of the great arteries human_phenotype_ontology_hp_0001669_mondo_mondo_0000153_medgen_c0040761_orphanet_216675 Human_Phenotype_Ontology:HP:0001669,MONDO:MONDO:0000153,MedGen:C0040761,Orphanet:216675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 GDF1-related disorder gdf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 GDF1-RELATED DISORDERS gdf1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDF1 Congenital heart defects, multiple types mondo_mondo_0000119_medgen_cn377732 MONDO:MONDO:0000119,MedGen:CN377732 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP2 GDAP2-related disorder gdap2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Sensory neuropathy human_phenotype_ontology_hp_0000763_human_phenotype_ontology_hp_0003410_human_phenotype_ontology_hp_0006815_human_phenotype_ontology_hp_0007043_human_phenotype_ontology_hp_0007142_mondo_mondo_0002321_medgen_c0151313 Human_Phenotype_Ontology:HP:0000763,Human_Phenotype_Ontology:HP:0003410,Human_Phenotype_Ontology:HP:0006815,Human_Phenotype_Ontology:HP:0007043,Human_Phenotype_Ontology:HP:0007142,MONDO:MONDO:0002321,MedGen:C0151313 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Polyneuropathy human_phenotype_ontology_hp_0001271_human_phenotype_ontology_hp_0006941_human_phenotype_ontology_hp_0007287_mondo_mondo_0001824_medgen_c0152025 Human_Phenotype_Ontology:HP:0001271,Human_Phenotype_Ontology:HP:0006941,Human_Phenotype_Ontology:HP:0007287,MONDO:MONDO:0001824,MedGen:C0152025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Peripheral axonal neuropathy human_phenotype_ontology_hp_0003477_human_phenotype_ontology_hp_0006814_human_phenotype_ontology_hp_0006842_human_phenotype_ontology_hp_0007169_human_phenotype_ontology_hp_0008304_mondo_mondo_0004183_medgen_c1263857 Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Elevated circulating alkaline phosphatase concentration human_phenotype_ontology_hp_0002911_human_phenotype_ontology_hp_0003155_human_phenotype_ontology_hp_0003636_human_phenotype_ontology_hp_0008296_medgen_c1314665 Human_Phenotype_Ontology:HP:0002911,Human_Phenotype_Ontology:HP:0003155,Human_Phenotype_Ontology:HP:0003636,Human_Phenotype_Ontology:HP:0008296,MedGen:C1314665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCNT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCNT2 GCNT2-related disorder gcnt2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCNA Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCM2 GCM2-related disorder gcm2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Pancytopenia-developmental delay syndrome mondo_mondo_0014317_medgen_c3810350_omim_615715_orphanet_401764 MONDO:MONDO:0014317,MedGen:C3810350,OMIM:615715,Orphanet:401764 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Microcephaly, normal intelligence and immunodeficiency mondo_mondo_0009623_medgen_c0398791_omim_251260_orphanet_647 MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260,Orphanet:647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Maturity-onset diabetes of the young type 1 mondo_mondo_0007452_medgen_c1852093_omim_125850_orphanet_552 MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Familial hyperinsulinism mondo_mondo_0017182_medgen_c3888018_orphanet_276525 MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Diabetes mellitus human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Developmental and epileptic encephalopathy, 2 mondo_mondo_0010396_medgen_c4750718_omim_300672_orphanet_1934_orphanet_3451_orphanet_505652 MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Sleep disturbance human_phenotype_ontology_hp_0002360_medgen_c0037317 Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Rigidity human_phenotype_ontology_hp_0002063_medgen_c0026837 Human_Phenotype_Ontology:HP:0002063,MedGen:C0026837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Gait imbalance human_phenotype_ontology_hp_0002141_human_phenotype_ontology_hp_0100683_medgen_c1836150 Human_Phenotype_Ontology:HP:0002141,Human_Phenotype_Ontology:HP:0100683,MedGen:C1836150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Gait disturbance human_phenotype_ontology_hp_0001288_human_phenotype_ontology_hp_0006953_medgen_c0575081 Human_Phenotype_Ontology:HP:0001288,Human_Phenotype_Ontology:HP:0006953,MedGen:C0575081 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Gait ataxia human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 GCH1-related disorder gch1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH Tyrosinemia type III mondo_mondo_0010162_medgen_c0268623_omim_276710_orphanet_69723 MONDO:MONDO:0010162,MedGen:C0268623,OMIM:276710,Orphanet:69723 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH Primary ciliary dyskinesia 29 mondo_mondo_0014378_medgen_c4014534_omim_615872_orphanet_244 MONDO:MONDO:0014378,MedGen:C4014534,OMIM:615872,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH Hypomyelinating leukodystrophy 2 mondo_mondo_0012125_medgen_c1837355_omim_608804_orphanet_280270_orphanet_280282 MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804,Orphanet:280270,Orphanet:280282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 medgen_c3150805_omim_613566_orphanet_251380 MedGen:C3150805,OMIM:613566,Orphanet:251380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH Congenital dyserythropoietic anemia type 4 mondo_mondo_0013355_medgen_c3150926_omim_613673_orphanet_293825 MONDO:MONDO:0013355,MedGen:C3150926,OMIM:613673,Orphanet:293825 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH BLOOD GROUP--LUTHERAN INHIBITOR medgen_c1292231_omim_111150 MedGen:C1292231,OMIM:111150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBP1 Neutrophil inclusion bodies human_phenotype_ontology_hp_0001932_human_phenotype_ontology_hp_0008264_medgen_c4021547 Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities medgen_c3807151 MedGen:C3807151 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBF1 ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES medgen_c4310917 MedGen:C4310917 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Osteogenesis imperfecta type 15 mondo_mondo_0014086_medgen_c3808844_omim_615220_orphanet_666 MONDO:MONDO:0014086,MedGen:C3808844,OMIM:615220,Orphanet:666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Dementia human_phenotype_ontology_hp_0000726_human_phenotype_ontology_hp_0002274_human_phenotype_ontology_hp_0007122_human_phenotype_ontology_hp_0007150_human_phenotype_ontology_hp_0007283_mondo_mondo_0001627_medgen_c0497327 Human_Phenotype_Ontology:HP:0000726,Human_Phenotype_Ontology:HP:0002274,Human_Phenotype_Ontology:HP:0007122,Human_Phenotype_Ontology:HP:0007150,Human_Phenotype_Ontology:HP:0007283,MONDO:MONDO:0001627,MedGen:C0497327 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Cutis laxa, autosomal recessive, type 1B mondo_mondo_0013754_medgen_c3280798_omim_614437_orphanet_90349 MONDO:MONDO:0013754,MedGen:C3280798,OMIM:614437,Orphanet:90349 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Autosomal recessive GBE1-related disorders autosomal_recessive_gbe1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Arthrogryposis syndrome mondo_mondo_0015225_medgen_cn261653_orphanet_109007 MONDO:MONDO:0015225,MedGen:CN261653,Orphanet:109007 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA2 GBA2-related disorder gba2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA2 CEP290-related ciliopathy mondo_mondo_0100451_medgen_cn305601 MONDO:MONDO:0100451,MedGen:CN305601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Young-onset Parkinson disease mondo_mondo_0017279_medgen_c4275179_orphanet_2828 MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Rigidity human_phenotype_ontology_hp_0002063_medgen_c0026837 Human_Phenotype_Ontology:HP:0002063,MedGen:C0026837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Parkinson disease mondo_mondo_0005180_mesh_d010300_medgen_c0030567_omim_ps168600 MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 GBA1-related disorders gba1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 GBA-related disorder gba_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Dementia, Lewy body, susceptibility to medgen_c2676021 MedGen:C2676021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Autosomal recessive GBA1-related disorders autosomal_recessive_gba1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Autosomal recessive GBA-related disorders autosomal_recessive_gba_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Akinesia human_phenotype_ontology_hp_0002304_medgen_c0085623 Human_Phenotype_Ontology:HP:0002304,MedGen:C0085623 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATM Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities mondo_mondo_0032829_medgen_c5231423_omim_618603 MONDO:MONDO:0032829,MedGen:C5231423,OMIM:618603 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATC Combined oxidative phosphorylation deficiency 42 mondo_mondo_0030008_medgen_c5394237_omim_618839 MONDO:MONDO:0030008,MedGen:C5394237,OMIM:618839 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATC Cardiomyopathy, mitochondrial medgen_c3532239 MedGen:C3532239 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD2B GATAD2B-related intellectual disability syndrome gatad2b_related_intellectual_disability_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD2A GATAD2A-associated neurodevelopmental disorder gatad2a_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Peroxisome biogenesis disorder type 1A peroxisome_biogenesis_disorder_type_1a . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Peroxisome biogenesis disorder due to PEX1 defect mondo_mondo_0100259_medgen_cn305475 MONDO:MONDO:0100259,MedGen:CN305475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Dilated cardiomyopathy 2B mondo_mondo_0013848_medgen_c3553409_omim_614672_orphanet_154 MONDO:MONDO:0013848,MedGen:C3553409,OMIM:614672,Orphanet:154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Neutropenia, severe congenital, 8, autosomal dominant mondo_mondo_0032899_medgen_c5203411_omim_618752_orphanet_675767 MONDO:MONDO:0032899,MedGen:C5203411,OMIM:618752,Orphanet:675767 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Atypical coarctation of aorta mondo_mondo_0015446_medgen_c3496579_orphanet_1456 MONDO:MONDO:0015446,MedGen:C3496579,Orphanet:1456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 Transposition of the great arteries human_phenotype_ontology_hp_0001669_mondo_mondo_0000153_medgen_c0040761_orphanet_216675 Human_Phenotype_Ontology:HP:0001669,MONDO:MONDO:0000153,MedGen:C0040761,Orphanet:216675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 GATA4-related disorder gata4_related_disorder MedGen:CN860321 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 GATA4-related dilated cardiomyopathy gata4_related_dilated_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA4 46,XY sex reversal 3 mondo_mondo_0013066_medgen_c3489793_omim_612965 MONDO:MONDO:0013066,MedGen:C3489793,OMIM:612965 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 Stage 5 chronic kidney disease human_phenotype_ontology_hp_0000101_human_phenotype_ontology_hp_0003774_human_phenotype_ontology_hp_0004720_human_phenotype_ontology_hp_0004725_human_phenotype_ontology_hp_0004733_human_phenotype_ontology_hp_0004738_human_phenotype_ontology_hp_0005570_mondo_mondo_0004375_medgen_c2316810 Human_Phenotype_Ontology:HP:0000101,Human_Phenotype_Ontology:HP:0003774,Human_Phenotype_Ontology:HP:0004720,Human_Phenotype_Ontology:HP:0004725,Human_Phenotype_Ontology:HP:0004733,Human_Phenotype_Ontology:HP:0004738,Human_Phenotype_Ontology:HP:0005570,MONDO:MONDO:0004375,MedGen:C2316810 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 Deafness, autosomal dominant deafness_autosomal_dominant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 multilineage dysplasia multilineage_dysplasia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 Alveolar capillary dysplasia with pulmonary venous misalignment mondo_mondo_0009934_medgen_c2960310_omim_265380_orphanet_210122 MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 X-linked GATA1-related disorders x_linked_gata1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC medgen_c1860789 MedGen:C1860789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Cutaneous porphyria mondo_mondo_0009902_medgen_c5886774_omim_263700_orphanet_79277 MONDO:MONDO:0009902,MedGen:C5886774,OMIM:263700,Orphanet:79277 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Anemia human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Acute megakaryoblastic leukemia human_phenotype_ontology_hp_0006733_mondo_mondo_0018872_mesh_d007947_medgen_c0023462_orphanet_518 Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAS2L2 Primary ciliary dyskinesia 3 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GART Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GART Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARS1 GARS-associated growth retardation and developmental delay gars_associated_growth_retardation_and_developmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARNL3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GARIN5A EMC10-related disorder emc10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAREM2 Metabolic disease mondo_mondo_0005066_medgen_c0025517 MONDO:MONDO:0005066,MedGen:C0025517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAREM2 LCHAD deficiency with maternal acute fatty liver of pregnancy medgen_c1833202 MedGen:C1833202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAREM2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAPDH Microcephaly 21, primary, autosomal recessive mondo_mondo_0054804_medgen_c4693831_omim_617983 MONDO:MONDO:0054804,MedGen:C4693831,OMIM:617983 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GANAB POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE polycystic_kidney_disease_3_without_polycystic_liver_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GANAB Autosomal dominant polycystic kidney disease mondo_mondo_0004691_medgen_c0085413_orphanet_730 MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAN Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAN Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAMT Parkinson disease, late-onset mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAMT Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAMT Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALR2 Neutropenia, severe congenital, 10, autosomal recessive mondo_mondo_0957809_medgen_c5882756_omim_620534 MONDO:MONDO:0957809,MedGen:C5882756,OMIM:620534 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNTL5 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNT4 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNT14 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNT14 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNS Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 Junctional epidermolysis bullosa mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALE Galactosemia III, severe medgen_c4017048 MedGen:C4017048 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALE GALE-related disorder gale_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Fabry disease human_phenotype_ontology_hp_0001071_mondo_mondo_0010526_medgen_c0002986_omim_301500_orphanet_324 Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAL3ST2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAL Familial temporal lobe epilepsy 8 mondo_mondo_0014650_medgen_c4225318_omim_616461_orphanet_101046 MONDO:MONDO:0014650,MedGen:C4225318,OMIM:616461,Orphanet:101046 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG3 Angelman syndrome mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Sudden unexplained death in childhood mondo_mondo_1010117_medgen_c3827273 MONDO:MONDO:1010117,MedGen:C3827273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Lennox-Gastaut syndrome mondo_mondo_0016532_medgen_c0238111_orphanet_2382 MONDO:MONDO:0016532,MedGen:C0238111,Orphanet:2382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRE Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRD condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRD Idiopathic generalized epilepsy mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRD GABRD-Related Disorders gabrd_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB2 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA2 GABRA2-related disorder gabra2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA2 Alcohol dependence human_phenotype_ontology_hp_0030955_mondo_mondo_0007079_medgen_c0001973_omim_103780 Human_Phenotype_Ontology:HP:0030955,MONDO:MONDO:0007079,MedGen:C0001973,OMIM:103780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Intractable seizure medgen_c2674422 MedGen:C2674422 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 Neurofibromatosis, type 1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 GABBR1-related neurodevelopmental disorder gabbr1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABBR1 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAB1 Autosomal recessive nonsyndromic hearing loss 26 mondo_mondo_0011553_medgen_c1854275_omim_605428_orphanet_90636 MONDO:MONDO:0011553,MedGen:C1854275,OMIM:605428,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Glycoprotein storage disease mondo_mondo_0009296_medgen_c1856275_omim_232900 MONDO:MONDO:0009296,MedGen:C1856275,OMIM:232900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Glycogen storage disease, type IV mondo_mondo_0009292_medgen_c0017923_omim_232500_orphanet_367 MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Glycogen storage disease due to glucose-6-phosphatase deficiency type IA mondo_mondo_0009287_medgen_c2919796_omim_232200_orphanet_364_orphanet_79258 MONDO:MONDO:0009287,MedGen:C2919796,OMIM:232200,Orphanet:364,Orphanet:79258 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Hemolytic anemia, G6PD deficient (favism) hemolytic_anemia_g6pd_deficient_favism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Granulomatous disease, chronic, X-linked mondo_mondo_0010600_medgen_c1844376_omim_306400_orphanet_379 MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD ZURICH g6pd_zurich . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD WALTER REED g6pd_walter_reed . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD VIANGCHAN g6pd_viangchan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD VARNSDORF g6pd_varnsdorf . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD TOMAH g6pd_tomah . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD TAIWAN-HAKKA 2 g6pd_taiwan_hakka_2 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD TAIWAN-HAKKA g6pd_taiwan_hakka . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD SPRINGFIELD g6pd_springfield . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD SERRES g6pd_serres . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD SEATTLE-LIKE g6pd_seattle_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD SASSARI g6pd_sassari . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD SAPPORO-LIKE g6pd_sapporo_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD SANTIAGO DE CUBA g6pd_santiago_de_cuba . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD SANTIAGO g6pd_santiago . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD RIVERSIDE g6pd_riverside . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD REHOVOT g6pd_rehovot . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD QUING YUAN g6pd_quing_yuan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD PUERTO LIMON g6pd_puerto_limon . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD PORTICI g6pd_portici . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD PETRICH-LIKE g6pd_petrich_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD ORISSA g6pd_orissa . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD NILGIRI g6pd_nilgiri . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD NEAPOLIS g6pd_neapolis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD NASHVILLE g6pd_nashville . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD NANKANG g6pd_nankang . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD NAMORU g6pd_namoru . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD MODENA g6pd_modena . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD MINNESOTA g6pd_minnesota . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD MEDITERRANEAN g6pd_mediterranean . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD MARION g6pd_marion . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD MALAGA g6pd_malaga . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD MAHIDOL g6pd_mahidol . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD LOMA LINDA g6pd_loma_linda . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD KERALA-KALYAN g6pd_kerala_kalyan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD KERALA g6pd_kerala . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD KALYAN g6pd_kalyan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD KAIPING g6pd_kaiping . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD JAPAN g6pd_japan . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD JAMMU g6pd_jammu . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD IOWA CITY g6pd_iowa_city . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD IOWA g6pd_iowa . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD IERAPETRA g6pd_ierapetra . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD HARILAOU g6pd_harilaou . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD GUADALAJARA g6pd_guadalajara . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD GIFU g6pd_gifu . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD GASTONIA g6pd_gastonia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD GAOHE g6pd_gaohe . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD DHON g6pd_dhon . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD COSENZA g6pd_cosenza . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD COIMBRA g6pd_coimbra . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD CHATHAM g6pd_chatham . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD CANTON g6pd_canton . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD CAGLIARI g6pd_cagliari . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD BEVERLY HILLS g6pd_beverly_hills . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD AVEIRO g6pd_aveiro . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD AURES g6pd_aures . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD ASAHI g6pd_asahi . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD ANDALUS g6pd_andalus . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD ANANT g6pd_anant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD ANAHEIM g6pd_anaheim . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD ALHAMBRA g6pd_alhambra . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD AGRIGENTO g6pd_agrigento . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Familial hemolytic anemia human_phenotype_ontology_hp_0004804_human_phenotype_ontology_hp_0004811_human_phenotype_ontology_hp_0004824_mondo_mondo_0003689_medgen_c0002881 Human_Phenotype_Ontology:HP:0004804,Human_Phenotype_Ontology:HP:0004811,Human_Phenotype_Ontology:HP:0004824,MONDO:MONDO:0003689,MedGen:C0002881 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Early-onset coronary artery disease medgen_c4229399 MedGen:C4229399 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Congenital nonspherocytic hemolytic anemia mondo_mondo_0006506_medgen_c0002882_omim_ps300908 MONDO:MONDO:0006506,MedGen:C0002882,OMIM:PS300908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC3 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC3 G6PC3-related disorder g6pc3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 Increased hepatic glycogen content human_phenotype_ontology_hp_0006568_medgen_c1856285 Human_Phenotype_Ontology:HP:0006568,MedGen:C1856285 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 Hypoglycemia human_phenotype_ontology_hp_0001943_human_phenotype_ontology_hp_0003356_mondo_mondo_0004946_medgen_c0020615 Human_Phenotype_Ontology:HP:0001943,Human_Phenotype_Ontology:HP:0003356,MONDO:MONDO:0004946,MedGen:C0020615 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G3BP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZR1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD6 Nephroblastoma human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 FZD4-related disorder fzd4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 Exudative vitreoretinopathy, digenic medgen_c1858262 MedGen:C1858262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD4 Atrophia bulborum hereditaria human_phenotype_ontology_hp_6000262_mondo_mondo_0010691_medgen_c0266526_omim_310600_orphanet_649 Human_Phenotype_Ontology:HP:6000262,MONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600,Orphanet:649 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD3 Multicystic kidney dysplasia human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD3 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD3 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD3 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD3 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD3 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD2 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FZD2 Autosomal dominant Robinow syndrome 3 mondo_mondo_0014819_medgen_c4225164_omim_616894_orphanet_3107_orphanet_97360 MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894,Orphanet:3107,Orphanet:97360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FYCO1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FYCO1 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXYD2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXYD2 Renal hypomagnesemia 2 mondo_mondo_0007937_medgen_c1835171_omim_154020_orphanet_34528 MONDO:MONDO:0007937,MedGen:C1835171,OMIM:154020,Orphanet:34528 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXR1 Myopathy, congenital, with respiratory insufficiency and bone fractures mondo_mondo_0032936_medgen_c5394189_omim_618822 MONDO:MONDO:0032936,MedGen:C5394189,OMIM:618822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXR1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FXN Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUZ Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUT8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUT8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUT8 FUT8-related disorder fut8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUT1 FUT1-related disorder fut1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUT1 BOMBAY PHENOTYPE, DIGENIC medgen_c4749062 MedGen:C4749062 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUS Nanophthalmos 4 mondo_mondo_0014426_medgen_c4014848_omim_615972_orphanet_35612 MONDO:MONDO:0014426,MedGen:C4014848,OMIM:615972,Orphanet:35612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUS Amyotrophic lateral sclerosis 6, autosomal recessive medgen_c2750729 MedGen:C2750729 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUNDC2 Hereditary factor VIII deficiency disease mondo_mondo_0010602_medgen_c0019069_omim_306700_orphanet_98878 MONDO:MONDO:0010602,MedGen:C0019069,OMIM:306700,Orphanet:98878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUCA1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUCA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUCA1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTSJ1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTO condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTO Body mass index quantitative trait locus 14 medgen_c2675914_omim_612460 MedGen:C2675914,OMIM:612460 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTL L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE medgen_c4016051 MedGen:C4016051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 Retinitis pigmentosa 50 mondo_mondo_0013175_medgen_c2750789_omim_613194_orphanet_791 MONDO:MONDO:0013175,MedGen:C2750789,OMIM:613194,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 Hemochromatosis type 5 mondo_mondo_0014225_medgen_c1851316_omim_615517_orphanet_247790 MONDO:MONDO:0014225,MedGen:C1851316,OMIM:615517,Orphanet:247790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTH1 BEST1-related disorder best1_related_disorder MedGen:CN239200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSIP2 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSIP2 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSIP2 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHR Hereditary xanthinuria type 1 mondo_mondo_0010209_medgen_c0268118_omim_278300_orphanet_3467_orphanet_93601 MONDO:MONDO:0010209,MedGen:C0268118,OMIM:278300,Orphanet:3467,Orphanet:93601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHR Amenorrhea human_phenotype_ontology_hp_0000141_mondo_mondo_0001836_medgen_c0002453 Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSHB condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FSD1L Hydrocephalus, nonsyndromic, autosomal recessive 1 mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRYL FRYL-related disorder fryl_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRYL FRYL-related developmental disorder fryl_related_developmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRRS1L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMPD4 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMD7 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMD7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMD7 FRMD7-related disorder frmd7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRG1 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Unilateral renal agenesis human_phenotype_ontology_hp_0000122_mondo_mondo_0019636_medgen_c0266294_orphanet_93100 Human_Phenotype_Ontology:HP:0000122,MONDO:MONDO:0019636,MedGen:C0266294,Orphanet:93100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Toe syndactyly human_phenotype_ontology_hp_0001770_human_phenotype_ontology_hp_0001828_human_phenotype_ontology_hp_0005677_medgen_c0265660 Human_Phenotype_Ontology:HP:0001770,Human_Phenotype_Ontology:HP:0001828,Human_Phenotype_Ontology:HP:0005677,MedGen:C0265660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Renal hypoplasia/aplasia human_phenotype_ontology_hp_0004744_human_phenotype_ontology_hp_0008678_human_phenotype_ontology_hp_0008701_medgen_c1857453 Human_Phenotype_Ontology:HP:0004744,Human_Phenotype_Ontology:HP:0008678,Human_Phenotype_Ontology:HP:0008701,MedGen:C1857453 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Finger syndactyly human_phenotype_ontology_hp_0006057_human_phenotype_ontology_hp_0006101_medgen_c0221352 Human_Phenotype_Ontology:HP:0006057,Human_Phenotype_Ontology:HP:0006101,MedGen:C0221352 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Cryptotia human_phenotype_ontology_hp_0011252_medgen_c2315717 Human_Phenotype_Ontology:HP:0011252,MedGen:C2315717 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Cryptophthalmia human_phenotype_ontology_hp_0001126_human_phenotype_ontology_hp_0008032_mondo_mondo_0020153_medgen_c0311249_orphanet_98562 Human_Phenotype_Ontology:HP:0001126,Human_Phenotype_Ontology:HP:0008032,MONDO:MONDO:0020153,MedGen:C0311249,Orphanet:98562 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Congenital diaphragmatic hernia human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_orphanet_2140 Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,Orphanet:2140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Ambiguous genitalia human_phenotype_ontology_hp_0000062_human_phenotype_ontology_hp_0008685_human_phenotype_ontology_hp_0008693_medgen_c0266362 Human_Phenotype_Ontology:HP:0000062,Human_Phenotype_Ontology:HP:0008685,Human_Phenotype_Ontology:HP:0008693,MedGen:C0266362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Abnormality of the anus human_phenotype_ontology_hp_0004378_medgen_c4025329 Human_Phenotype_Ontology:HP:0004378,MedGen:C4025329 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRAS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 Mitochondrial encephalopathy human_phenotype_ontology_hp_0006789_medgen_c1852373 Human_Phenotype_Ontology:HP:0006789,MedGen:C1852373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXRED1 FOXRED1-related disorder foxred1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Ventricular septal defect human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Flattened epiphysis human_phenotype_ontology_hp_0003071_human_phenotype_ontology_hp_0004982_human_phenotype_ontology_hp_0005051_human_phenotype_ontology_hp_0005076_human_phenotype_ontology_hp_0005080_medgen_c1857527 Human_Phenotype_Ontology:HP:0003071,Human_Phenotype_Ontology:HP:0004982,Human_Phenotype_Ontology:HP:0005051,Human_Phenotype_Ontology:HP:0005076,Human_Phenotype_Ontology:HP:0005080,MedGen:C1857527 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Epiphyseal dysplasia human_phenotype_ontology_hp_0002656_medgen_c0392476 Human_Phenotype_Ontology:HP:0002656,MedGen:C0392476 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Disproportionate short stature human_phenotype_ontology_hp_0003498_human_phenotype_ontology_hp_0008895_human_phenotype_ontology_hp_0008900_medgen_c0878659 Human_Phenotype_Ontology:HP:0003498,Human_Phenotype_Ontology:HP:0008895,Human_Phenotype_Ontology:HP:0008900,MedGen:C0878659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP4 Craniofacial asymmetry human_phenotype_ontology_hp_0004484_medgen_c4025320 Human_Phenotype_Ontology:HP:0004484,MedGen:C4025320 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP3 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP3 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome mondo_mondo_0009359_medgen_c1856053_omim_236500_orphanet_500135 MONDO:MONDO:0009359,MedGen:C1856053,OMIM:236500,Orphanet:500135 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP3 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Glabellar hemangioma human_phenotype_ontology_hp_0001076_medgen_c1854408 Human_Phenotype_Ontology:HP:0001076,MedGen:C1854408 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 FOXP1-related neurodevelopmental disorder foxp1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Anterior creases of earlobe human_phenotype_ontology_hp_0008604_human_phenotype_ontology_hp_0009908_medgen_c1851897_omim_128950 Human_Phenotype_Ontology:HP:0008604,Human_Phenotype_Ontology:HP:0009908,MedGen:C1851897,OMIM:128950 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXO1 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXN1 T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT t_cell_lymphopenia_infantile_without_nail_dystrophy_autosomal_dominant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome medgen_c1854128 MedGen:C1854128 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 Blepharophimosis human_phenotype_ontology_hp_0000507_human_phenotype_ontology_hp_0000513_human_phenotype_ontology_hp_0000581_mondo_mondo_0001008_medgen_c0005744 Human_Phenotype_Ontology:HP:0000507,Human_Phenotype_Ontology:HP:0000513,Human_Phenotype_Ontology:HP:0000581,MONDO:MONDO:0001008,MedGen:C0005744 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXJ1 FOXJ1-related disorder foxj1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXI1 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXI1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Severe intellectual deficiency severe_intellectual_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Combined oxidative phosphorylation defect type 24 mondo_mondo_0014547_medgen_c4015643_omim_616239_orphanet_444458 MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Axial hypotonia human_phenotype_ontology_hp_0002320_human_phenotype_ontology_hp_0008936_medgen_c1853743 Human_Phenotype_Ontology:HP:0002320,Human_Phenotype_Ontology:HP:0008936,MedGen:C1853743 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Aplasia/Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0007003_human_phenotype_ontology_hp_0007060_human_phenotype_ontology_hp_0007061_human_phenotype_ontology_hp_0007137_human_phenotype_ontology_hp_0007370_medgen_c1861866 Human_Phenotype_Ontology:HP:0007003,Human_Phenotype_Ontology:HP:0007060,Human_Phenotype_Ontology:HP:0007061,Human_Phenotype_Ontology:HP:0007137,Human_Phenotype_Ontology:HP:0007370,MedGen:C1861866 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Abnormal optic nerve morphology human_phenotype_ontology_hp_0000587_medgen_c0029131 Human_Phenotype_Ontology:HP:0000587,MedGen:C0029131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXF1 Ventricular septal defect human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXF1 VATER association mondo_mondo_0008642_medgen_c4225671_omim_192350_orphanet_887 MONDO:MONDO:0008642,MedGen:C4225671,OMIM:192350,Orphanet:887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXF1 Pyloric stenosis, infantile hypertrophic, 5 mondo_mondo_0012922_medgen_c2675862_omim_612525 MONDO:MONDO:0012922,MedGen:C2675862,OMIM:612525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXF1 Fetal megacystis human_phenotype_ontology_hp_0010956_medgen_c2931117 Human_Phenotype_Ontology:HP:0010956,MedGen:C2931117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXF1 FOXF1-related disorder foxf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXF1 Atresia of urethra human_phenotype_ontology_hp_0000068_mondo_mondo_0015195_medgen_c0345345_orphanet_105 Human_Phenotype_Ontology:HP:0000068,MONDO:MONDO:0015195,MedGen:C0345345,Orphanet:105 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE3 Irido-corneo-trabecular dysgenesis human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE3 FOXE3-related disorder foxe3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE1 congenital hypothyreodism congenital_hypothyreodism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE1 Thyroid cancer, nonmedullary, 4 mondo_mondo_0014681_medgen_c4225293_omim_616534 MONDO:MONDO:0014681,MedGen:C4225293,OMIM:616534 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXD2 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXD2 FOXD2-associated disorder foxd2_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC2 LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS medgen_c2675066 MedGen:C2675066 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 Hypertelorism and tetralogy of fallot mondo_mondo_0009403_medgen_c1855903_omim_239711 MONDO:MONDO:0009403,MedGen:C1855903,OMIM:239711 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 Glaucoma of childhood human_phenotype_ontology_hp_0001087_mondo_mondo_0020367_medgen_c2981140_orphanet_98977 Human_Phenotype_Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 FOXC1-related anterior segment dysgenesis mondo_mondo_0100235_medgen_cn323279 MONDO:MONDO:0100235,MedGen:CN323279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXA2 Non-acquired combined pituitary hormone deficiency mondo_mondo_0018762_medgen_c5680091_orphanet_467 MONDO:MONDO:0018762,MedGen:C5680091,Orphanet:467 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXA2 Congenital syndromic hypopituitarism congenital_syndromic_hypopituitarism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOSL2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOS Osteopetrosis human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOLR1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOLR1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOCAD condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOCAD FOCAD-related disorder focad_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FNTA Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FN1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FN1 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FN1 FN1-related disorder fn1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMR1 Fragile X-associated tremor/ataxia syndrome mondo_mondo_0010382_medgen_c1839780_omim_300623_orphanet_93256 MONDO:MONDO:0010382,MedGen:C1839780,OMIM:300623,Orphanet:93256 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMR1 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMO3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMO3 FMO3 activity, decreased medgen_c4016100 MedGen:C4016100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMNL2 Crohn disease human_phenotype_ontology_hp_0100280_mondo_mondo_0005011_medgen_c0010346 Human_Phenotype_Ontology:HP:0100280,MONDO:MONDO:0005011,MedGen:C0010346 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMN2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMN1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMN1 Breast-ovarian cancer, familial, susceptibility to, 4 mondo_mondo_0013669_medgen_c3280345_omim_614291_orphanet_145 MONDO:MONDO:0013669,MedGen:C3280345,OMIM:614291,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMC1 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Stargardt disease mondo_mondo_0019353_medgen_c0271093_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Short rib-polydactyly syndrome mondo_mondo_0015461_medgen_c0036996_orphanet_1505 MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 Hereditary sensory and autonomic neuropathy mondo_mondo_0015364_medgen_c0027889_omim_ps162400_orphanet_140471 MONDO:MONDO:0015364,MedGen:C0027889,OMIM:PS162400,Orphanet:140471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLVCR1 FLVCR1-related disorder flvcr1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT4 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT4 FLT4-related disorders flt4_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT4 Capillary infantile hemangioma mondo_mondo_0011191_medgen_c1865871_omim_602089 MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT3LG Immunodeficiency 125 mondo_mondo_0975749_medgen_c5975353_omim_620926 MONDO:MONDO:0975749,MedGen:C5975353,OMIM:620926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT3 Myelodysplastic syndrome progressed to acute myeloid leukemia myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT3 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLRT3 Hypogonadotropic hypogonadism 21 with or without anosmia mondo_mondo_0014107_medgen_c3808986_omim_615271_orphanet_478 MONDO:MONDO:0014107,MedGen:C3808986,OMIM:615271,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Two-raphe bicuspid aortic valve human_phenotype_ontology_hp_0031122_medgen_c4476982 Human_Phenotype_Ontology:HP:0031122,MedGen:C4476982 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Patent foramen ovale human_phenotype_ontology_hp_0001655_mondo_mondo_0020439_medgen_c0016522 Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Myofibrillar myopathy human_phenotype_ontology_hp_0003715_mondo_mondo_0018943_medgen_c2678065_omim_ps601419_orphanet_593 Human_Phenotype_Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419,Orphanet:593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Facial asymmetry human_phenotype_ontology_hp_0000324_human_phenotype_ontology_hp_0003775_medgen_c1306710 Human_Phenotype_Ontology:HP:0000324,Human_Phenotype_Ontology:HP:0003775,MedGen:C1306710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC FLNC-associated cardiomyopathy flnc_associated_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Episodic vomiting human_phenotype_ontology_hp_0002572_medgen_c1838993 Human_Phenotype_Ontology:HP:0002572,MedGen:C1838993 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Disorder of cardiovascular system mondo_mondo_0004995_medgen_c0007222 MONDO:MONDO:0004995,MedGen:C0007222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Desmin-related myofibrillar myopathy mondo_mondo_0011076_medgen_c1832370_omim_601419_orphanet_363543_orphanet_98909 MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419,Orphanet:363543,Orphanet:98909 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Conduction disorder of the heart mondo_mondo_0100042_medgen_c0264886_omim_115080_orphanet_871 MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Asymmetry of the thorax human_phenotype_ontology_hp_0001555_medgen_c1858033 Human_Phenotype_Ontology:HP:0001555,MedGen:C1858033 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Asymmetric septal hypertrophy human_phenotype_ontology_hp_0001670_medgen_c0205700 Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Arrhythmogenic right ventricular dysplasia, familial, 15 medgen_c5830688 MedGen:C5830688 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Abnormal ventricular septum morphology human_phenotype_ontology_hp_0001628_human_phenotype_ontology_hp_0010438_medgen_c4021264 Human_Phenotype_Ontology:HP:0001628,Human_Phenotype_Ontology:HP:0010438,MedGen:C4021264 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Abnormal morphology of left ventricular trabeculae human_phenotype_ontology_hp_0031192_medgen_c4531288 Human_Phenotype_Ontology:HP:0031192,MedGen:C4531288 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Patellar hypoplasia human_phenotype_ontology_hp_0003065_human_phenotype_ontology_hp_0005020_medgen_c1840068 Human_Phenotype_Ontology:HP:0003065,Human_Phenotype_Ontology:HP:0005020,MedGen:C1840068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Limited knee flexion/extension human_phenotype_ontology_hp_0005085_medgen_c1968606 Human_Phenotype_Ontology:HP:0005085,MedGen:C1968606 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Knee dislocation human_phenotype_ontology_hp_0004976_human_phenotype_ontology_hp_0006469_medgen_c0159970 Human_Phenotype_Ontology:HP:0004976,Human_Phenotype_Ontology:HP:0006469,MedGen:C0159970 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB FLNB-Related Spectrum Disorders flnb_related_spectrum_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA X-linked FLNA-related disorders x_linked_flna_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Ventral hernia human_phenotype_ontology_hp_0002933_medgen_c0019326 Human_Phenotype_Ontology:HP:0002933,MedGen:C0019326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Vascular dilatation human_phenotype_ontology_hp_0002617_medgen_c0002940 Human_Phenotype_Ontology:HP:0002617,MedGen:C0002940 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Patent foramen ovale human_phenotype_ontology_hp_0001655_mondo_mondo_0020439_medgen_c0016522 Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Macrothrombocytopenia human_phenotype_ontology_hp_0040185_medgen_c2751260 Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA medgen_c4016451 MedGen:C4016451 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME heterotopia_periventricular_nodular_x_linked_dominant_with_melnick_needles_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Dysplastic corpus callosum human_phenotype_ontology_hp_0006989_human_phenotype_ontology_hp_0006996_medgen_c0431369 Human_Phenotype_Ontology:HP:0006989,Human_Phenotype_Ontology:HP:0006996,MedGen:C0431369 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Conductive hearing impairment human_phenotype_ontology_hp_0000367_human_phenotype_ontology_hp_0000405_human_phenotype_ontology_hp_0008581_mondo_mondo_0020679_medgen_c0018777 Human_Phenotype_Ontology:HP:0000367,Human_Phenotype_Ontology:HP:0000405,Human_Phenotype_Ontology:HP:0008581,MONDO:MONDO:0020679,MedGen:C0018777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA CONGENITAL SHORT BOWEL SYNDROME, X-LINKED medgen_c3806579 MedGen:C3806579 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Arterial tortuosity human_phenotype_ontology_hp_0005116_medgen_c3279191 Human_Phenotype_Ontology:HP:0005116,MedGen:C3279191 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Arterial thrombosis human_phenotype_ontology_hp_0004420_medgen_c0151942 Human_Phenotype_Ontology:HP:0004420,MedGen:C0151942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Abnormality of the face human_phenotype_ontology_hp_0000271_medgen_c4025871 Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLII Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLI1 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLI1 Bleeding disorder platelet type macrothrombocytopenia bleeding_disorder_platelet_type_macrothrombocytopenia MedGen:CN233138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLI1 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Paroxysmal dystonia human_phenotype_ontology_hp_0002268_human_phenotype_ontology_hp_0002412_mondo_mondo_0016058_medgen_c0393588_orphanet_200037 Human_Phenotype_Ontology:HP:0002268,Human_Phenotype_Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588,Orphanet:200037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Eczematoid dermatitis human_phenotype_ontology_hp_0000964_human_phenotype_ontology_hp_0000976_human_phenotype_ontology_hp_0001481_medgen_c0013595 Human_Phenotype_Ontology:HP:0000964,Human_Phenotype_Ontology:HP:0000976,Human_Phenotype_Ontology:HP:0001481,MedGen:C0013595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Dry skin human_phenotype_ontology_hp_0000958_medgen_c0151908 Human_Phenotype_Ontology:HP:0000958,MedGen:C0151908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Dermatitis, atopic medgen_c1864155_omim_603165 MedGen:C1864155,OMIM:603165 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Autosomal recessive FLG-related disorders autosomal_recessive_flg_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Atopic eczema human_phenotype_ontology_hp_0001047_human_phenotype_ontology_hp_0007533_human_phenotype_ontology_hp_0007564_mondo_mondo_0004980_medgen_c0011615_omim_ps603165 Human_Phenotype_Ontology:HP:0001047,Human_Phenotype_Ontology:HP:0007533,Human_Phenotype_Ontology:HP:0007564,MONDO:MONDO:0004980,MedGen:C0011615,OMIM:PS603165 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Abnormality of salivation human_phenotype_ontology_hp_0100755_medgen_c4021978 Human_Phenotype_Ontology:HP:0100755,MedGen:C4021978 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Pilocytic astrocytoma human_phenotype_ontology_hp_0033680_mondo_mondo_0016691_medgen_c0334583_orphanet_251612 Human_Phenotype_Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Inherited renal cancer inherited_renal_cancer . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Hypoparathyroidism human_phenotype_ontology_hp_0000829_human_phenotype_ontology_hp_0000856_human_phenotype_ontology_hp_0008292_mondo_mondo_0001220_medgen_c0020626 Human_Phenotype_Ontology:HP:0000829,Human_Phenotype_Ontology:HP:0000856,Human_Phenotype_Ontology:HP:0008292,MONDO:MONDO:0001220,MedGen:C0020626 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Hereditary renal cancer hereditary_renal_cancer . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLCN Chromophobe renal cell carcinoma mondo_mondo_0017885_medgen_c1266042_orphanet_319303 MONDO:MONDO:0017885,MedGen:C1266042,Orphanet:319303 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLAD1 FLAD1-related disorder flad1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN Myopathy caused by variation in FKTN mondo_mondo_0700067_medgen_cn305638 MONDO:MONDO:0700067,MedGen:CN305638 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Scapular winging human_phenotype_ontology_hp_0000783_human_phenotype_ontology_hp_0003691_medgen_c0240953 Human_Phenotype_Ontology:HP:0000783,Human_Phenotype_Ontology:HP:0003691,MedGen:C0240953 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Paresthesia human_phenotype_ontology_hp_0002082_human_phenotype_ontology_hp_0003401_medgen_c0030554 Human_Phenotype_Ontology:HP:0002082,Human_Phenotype_Ontology:HP:0003401,MedGen:C0030554 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Nizon-Isidor syndrome mondo_mondo_0030030_medgen_c5394350_omim_618872 MONDO:MONDO:0030030,MedGen:C5394350,OMIM:618872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Neuronopathy, distal hereditary motor, type 2B mondo_mondo_0012080_medgen_c2608087_omim_608634_orphanet_139525 MONDO:MONDO:0012080,MedGen:C2608087,OMIM:608634,Orphanet:139525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Hereditary skeletal muscle disorder mondo_mondo_0700223_medgen_cn324038 MONDO:MONDO:0700223,MedGen:CN324038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Headache human_phenotype_ontology_hp_0000266_human_phenotype_ontology_hp_0001354_human_phenotype_ontology_hp_0002315_medgen_c0018681 Human_Phenotype_Ontology:HP:0000266,Human_Phenotype_Ontology:HP:0001354,Human_Phenotype_Ontology:HP:0002315,MedGen:C0018681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Gait imbalance human_phenotype_ontology_hp_0002141_human_phenotype_ontology_hp_0100683_medgen_c1836150 Human_Phenotype_Ontology:HP:0002141,Human_Phenotype_Ontology:HP:0100683,MedGen:C1836150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP FKRP-related muscular dystrophy-dystroglycanopathy fkrp_related_muscular_dystrophy_dystroglycanopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Difficulty standing human_phenotype_ontology_hp_0003698_medgen_c0241237 Human_Phenotype_Ontology:HP:0003698,MedGen:C0241237 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Difficulty climbing stairs human_phenotype_ontology_hp_0003551_human_phenotype_ontology_hp_0007019_medgen_c0239067 Human_Phenotype_Ontology:HP:0003551,Human_Phenotype_Ontology:HP:0007019,MedGen:C0239067 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 Thoracolumbar scoliosis human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 Pes valgus human_phenotype_ontology_hp_0008081_medgen_c1578482 Human_Phenotype_Ontology:HP:0008081,MedGen:C1578482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 FKBP14-related disorder fkbp14_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP14 Congenital muscular dystrophy human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 FKBP10-related disorder fkbp10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 Bruck syndrome mondo_mondo_0017195_medgen_c0432253_omim_ps259450_orphanet_2771 MONDO:MONDO:0017195,MedGen:C0432253,OMIM:PS259450,Orphanet:2771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FITM2 FITM2-related disorder fitm2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIGLA Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Penile hypospadias human_phenotype_ontology_hp_0003244_medgen_c1691215 Human_Phenotype_Ontology:HP:0003244,MedGen:C1691215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Micropenis human_phenotype_ontology_hp_0000038_human_phenotype_ontology_hp_0000054_medgen_c4551492 Human_Phenotype_Ontology:HP:0000038,Human_Phenotype_Ontology:HP:0000054,MedGen:C4551492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Cerebral hypomyelination human_phenotype_ontology_hp_0006808_medgen_c2677328 Human_Phenotype_Ontology:HP:0006808,MedGen:C2677328 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIBP Overgrowth human_phenotype_ontology_hp_0001548_medgen_c1849265 Human_Phenotype_Ontology:HP:0001548,MedGen:C1849265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIBP Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIBP Learning disability mondo_mondo_0004681_medgen_c0751265 MONDO:MONDO:0004681,MedGen:C0751265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIBP Large hands human_phenotype_ontology_hp_0001176_human_phenotype_ontology_hp_0002820_human_phenotype_ontology_hp_0006044_human_phenotype_ontology_hp_0006219_medgen_c0426870 Human_Phenotype_Ontology:HP:0001176,Human_Phenotype_Ontology:HP:0002820,Human_Phenotype_Ontology:HP:0006044,Human_Phenotype_Ontology:HP:0006219,MedGen:C0426870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIBP FIBP-related disorder fibp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIBP Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIBP Congenital anomaly of face medgen_c0266617 MedGen:C0266617 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHOD3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHOD3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Familial hemophagocytic lymphohistiocytosis type 1 mondo_mondo_0009974_medgen_c4551514_omim_267700_orphanet_540 MONDO:MONDO:0009974,MedGen:C4551514,OMIM:267700,Orphanet:540 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 FHL1-related disorder fhl1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Emery-Dreifuss muscular dystrophy mondo_mondo_0016830_medgen_c0410189_omim_ps310300_orphanet_261 MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Asymmetric septal hypertrophy human_phenotype_ontology_hp_0001670_medgen_c0205700 Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHIT Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHIP2A Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FH Uterine leiomyoma human_phenotype_ontology_hp_0000131_human_phenotype_ontology_hp_0008642_mondo_mondo_0007886_medgen_c0042133_omim_150699 Human_Phenotype_Ontology:HP:0000131,Human_Phenotype_Ontology:HP:0008642,MONDO:MONDO:0007886,MedGen:C0042133,OMIM:150699 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FH Spinocerebellar ataxia 45 mondo_mondo_0033480_medgen_c4540400_omim_617769_orphanet_589527 MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FH Inherited phaeochromocytoma and paraganglioma excluding NF1 inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FH Hereditary cancer medgen_c1333600 MedGen:C1333600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG Hereditary spastic paraplegia 4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG FIBRINOGEN TOKYO 2 fibrinogen_tokyo_2 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG FIBRINOGEN HAIFA 1 fibrinogen_haifa_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG FIBRINOGEN ASAHI fibrinogen_asahi . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG Afibrinogenemia human_phenotype_ontology_hp_0034287_mesh_d000347_medgen_c0001733_orphanet_200418 Human_Phenotype_Ontology:HP:0034287,MeSH:D000347,MedGen:C0001733,Orphanet:200418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGG Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Upper limb undergrowth human_phenotype_ontology_hp_0003056_human_phenotype_ontology_hp_0006364_human_phenotype_ontology_hp_0009824_medgen_c1837406 Human_Phenotype_Ontology:HP:0003056,Human_Phenotype_Ontology:HP:0006364,Human_Phenotype_Ontology:HP:0009824,MedGen:C1837406 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Unilateral renal agenesis human_phenotype_ontology_hp_0000122_mondo_mondo_0019636_medgen_c0266294_orphanet_93100 Human_Phenotype_Ontology:HP:0000122,MONDO:MONDO:0019636,MedGen:C0266294,Orphanet:93100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Squamous cell lung carcinoma human_phenotype_ontology_hp_0030359_mondo_mondo_0005097_medgen_c0149782 Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Spermatocytic seminoma mondo_mondo_0020513_medgen_c0334517_orphanet_99865 MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Small for gestational age human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Skeletal dysplasia with acanthosis nigricans medgen_c1851152 MedGen:C1851152 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Short ribs human_phenotype_ontology_hp_0000773_human_phenotype_ontology_hp_0000899_human_phenotype_ontology_hp_0000908_human_phenotype_ontology_hp_0009750_medgen_c0426817 Human_Phenotype_Ontology:HP:0000773,Human_Phenotype_Ontology:HP:0000899,Human_Phenotype_Ontology:HP:0000908,Human_Phenotype_Ontology:HP:0009750,MedGen:C0426817 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Saethre-Chotzen syndrome mondo_mondo_0007042_medgen_c0175699_omim_101400_orphanet_794 MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400,Orphanet:794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Narrow chest human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Lower limb undergrowth human_phenotype_ontology_hp_0003087_human_phenotype_ontology_hp_0005884_human_phenotype_ontology_hp_0006399_human_phenotype_ontology_hp_0009816_medgen_c0345371 Human_Phenotype_Ontology:HP:0003087,Human_Phenotype_Ontology:HP:0005884,Human_Phenotype_Ontology:HP:0006399,Human_Phenotype_Ontology:HP:0009816,MedGen:C0345371 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Lethal short-limbed short stature human_phenotype_ontology_hp_0003506_human_phenotype_ontology_hp_0008909_medgen_c2674171 Human_Phenotype_Ontology:HP:0003506,Human_Phenotype_Ontology:HP:0008909,MedGen:C2674171 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Larsen syndrome mondo_mondo_0007875_medgen_c0175778_omim_150250_orphanet_503 MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250,Orphanet:503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Infantile axial hypotonia human_phenotype_ontology_hp_0009062_medgen_c3806604 Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Hamartoma human_phenotype_ontology_hp_0010566_mondo_mondo_0006499_medgen_c0018552 Human_Phenotype_Ontology:HP:0010566,MONDO:MONDO:0006499,MedGen:C0018552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Growth delay human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Generalized non-motor (absence) seizure human_phenotype_ontology_hp_0002121_human_phenotype_ontology_hp_0007143_human_phenotype_ontology_hp_0011148_medgen_c4316903 Human_Phenotype_Ontology:HP:0002121,Human_Phenotype_Ontology:HP:0007143,Human_Phenotype_Ontology:HP:0011148,MedGen:C4316903 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Femoral bowing human_phenotype_ontology_hp_0002980_human_phenotype_ontology_hp_0004998_medgen_c1859461 Human_Phenotype_Ontology:HP:0002980,Human_Phenotype_Ontology:HP:0004998,MedGen:C1859461 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Facial asymmetry human_phenotype_ontology_hp_0000324_human_phenotype_ontology_hp_0003775_medgen_c1306710 Human_Phenotype_Ontology:HP:0000324,Human_Phenotype_Ontology:HP:0003775,MedGen:C1306710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Disproportionate short-limb short stature human_phenotype_ontology_hp_0001523_human_phenotype_ontology_hp_0003505_human_phenotype_ontology_hp_0003509_human_phenotype_ontology_hp_0008858_human_phenotype_ontology_hp_0008869_human_phenotype_ontology_hp_0008873_human_phenotype_ontology_hp_0008875_human_phenotype_ontology_hp_0008880_human_phenotype_ontology_hp_0008881_human_phenotype_ontology_hp_0008889_human_phenotype_ontology_hp_0008912_human_phenotype_ontology_hp_0008914_human_phenotype_ontology_hp_0008928_medgen_c1849937 Human_Phenotype_Ontology:HP:0001523,Human_Phenotype_Ontology:HP:0003505,Human_Phenotype_Ontology:HP:0003509,Human_Phenotype_Ontology:HP:0008858,Human_Phenotype_Ontology:HP:0008869,Human_Phenotype_Ontology:HP:0008873,Human_Phenotype_Ontology:HP:0008875,Human_Phenotype_Ontology:HP:0008880,Human_Phenotype_Ontology:HP:0008881,Human_Phenotype_Ontology:HP:0008889,Human_Phenotype_Ontology:HP:0008912,Human_Phenotype_Ontology:HP:0008914,Human_Phenotype_Ontology:HP:0008928,MedGen:C1849937 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Crouzon syndrome human_phenotype_ontology_hp_0004439_mondo_mondo_0007405_mesh_d003394_medgen_c0010273_omim_123500_orphanet_207 Human_Phenotype_Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500,Orphanet:207 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Craniosynostosis, nonspecific craniosynostosis_nonspecific . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Coronal craniosynostosis human_phenotype_ontology_hp_0002675_human_phenotype_ontology_hp_0002685_human_phenotype_ontology_hp_0002739_human_phenotype_ontology_hp_0004440_human_phenotype_ontology_hp_0004441_medgen_c1856266 Human_Phenotype_Ontology:HP:0002675,Human_Phenotype_Ontology:HP:0002685,Human_Phenotype_Ontology:HP:0002739,Human_Phenotype_Ontology:HP:0004440,Human_Phenotype_Ontology:HP:0004441,MedGen:C1856266 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Bowed humerus human_phenotype_ontology_hp_0003865_medgen_c1859460 Human_Phenotype_Ontology:HP:0003865,MedGen:C1859460 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Bell-shaped thorax human_phenotype_ontology_hp_0001591_human_phenotype_ontology_hp_0006626_human_phenotype_ontology_hp_0006664_medgen_c1865186 Human_Phenotype_Ontology:HP:0001591,Human_Phenotype_Ontology:HP:0006626,Human_Phenotype_Ontology:HP:0006664,MedGen:C1865186 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 46,XY disorder of sex development mondo_mondo_0020040_medgen_c2751824_orphanet_98085 MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Wide anterior fontanel human_phenotype_ontology_hp_0000260_medgen_c1866134 Human_Phenotype_Ontology:HP:0000260,MedGen:C1866134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Short neck human_phenotype_ontology_hp_0000470_human_phenotype_ontology_hp_0005992_human_phenotype_ontology_hp_0200137_medgen_c0521525 Human_Phenotype_Ontology:HP:0000470,Human_Phenotype_Ontology:HP:0005992,Human_Phenotype_Ontology:HP:0200137,MedGen:C0521525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Shallow orbits human_phenotype_ontology_hp_0000586_human_phenotype_ontology_hp_0002706_medgen_c1865244 Human_Phenotype_Ontology:HP:0000586,Human_Phenotype_Ontology:HP:0002706,MedGen:C1865244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY medgen_c1867564 MedGen:C1867564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Pfeiffer syndrome type 3 mondo_mondo_0019661_medgen_c5438850_orphanet_93260 MONDO:MONDO:0019661,MedGen:C5438850,Orphanet:93260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Pemigatinib resistance pemigatinib_resistance . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Narrow forehead human_phenotype_ontology_hp_0000314_human_phenotype_ontology_hp_0000341_human_phenotype_ontology_hp_0004674_human_phenotype_ontology_hp_0004677_medgen_c1839758 Human_Phenotype_Ontology:HP:0000314,Human_Phenotype_Ontology:HP:0000341,Human_Phenotype_Ontology:HP:0004674,Human_Phenotype_Ontology:HP:0004677,MedGen:C1839758 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Mild fetal ventriculomegaly human_phenotype_ontology_hp_0010952_medgen_c4023628 Human_Phenotype_Ontology:HP:0010952,MedGen:C4023628 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Meier-Gorlin syndrome 1 mondo_mondo_0009143_medgen_c4552001_omim_224690_orphanet_2554 MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Low-set ears human_phenotype_ontology_hp_0000369_medgen_c0239234 Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Lateral ventricle dilatation human_phenotype_ontology_hp_0006796_human_phenotype_ontology_hp_0006945_human_phenotype_ontology_hp_0006956_human_phenotype_ontology_hp_0007173_medgen_c1856409 Human_Phenotype_Ontology:HP:0006796,Human_Phenotype_Ontology:HP:0006945,Human_Phenotype_Ontology:HP:0006956,Human_Phenotype_Ontology:HP:0007173,MedGen:C1856409 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Hypointensity of cerebral white matter on MRI human_phenotype_ontology_hp_0006804_human_phenotype_ontology_hp_0007103_medgen_c4020908 Human_Phenotype_Ontology:HP:0006804,Human_Phenotype_Ontology:HP:0007103,MedGen:C4020908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 High palate human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 High forehead human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Flat occiput human_phenotype_ontology_hp_0000247_human_phenotype_ontology_hp_0000249_human_phenotype_ontology_hp_0005469_medgen_c1837402 Human_Phenotype_Ontology:HP:0000247,Human_Phenotype_Ontology:HP:0000249,Human_Phenotype_Ontology:HP:0005469,MedGen:C1837402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Facial asymmetry human_phenotype_ontology_hp_0000324_human_phenotype_ontology_hp_0003775_medgen_c1306710 Human_Phenotype_Ontology:HP:0000324,Human_Phenotype_Ontology:HP:0003775,MedGen:C1306710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 FGFR2-related syndromic and non-syndromic craniosynostoses fgfr2_related_syndromic_and_non_syndromic_craniosynostoses . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Ectrodactyly human_phenotype_ontology_hp_0100257_mondo_mondo_0016576_medgen_c0265554_omim_ps183600_orphanet_2440 Human_Phenotype_Ontology:HP:0100257,MONDO:MONDO:0016576,MedGen:C0265554,OMIM:PS183600,Orphanet:2440 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Deviated nasal septum human_phenotype_ontology_hp_0004411_medgen_c0549397 Human_Phenotype_Ontology:HP:0004411,MedGen:C0549397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Craniosynostosis, nonspecific craniosynostosis_nonspecific . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Cranial asymmetry human_phenotype_ontology_hp_0000267_medgen_c1860245 Human_Phenotype_Ontology:HP:0000267,MedGen:C1860245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Choanal stenosis human_phenotype_ontology_hp_0000452_medgen_c0584837 Human_Phenotype_Ontology:HP:0000452,MedGen:C0584837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL medgen_c4016346 MedGen:C4016346 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT medgen_c1867563 MedGen:C1867563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA craniofacial_skeletal_dermatologic_dysplasia MedGen:CN042705 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Brachyturricephaly human_phenotype_ontology_hp_0000244_medgen_c1857484 Human_Phenotype_Ontology:HP:0000244,MedGen:C1857484 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Aural atresia, congenital mondo_mondo_0011921_medgen_c1842937_omim_607842 MONDO:MONDO:0011921,MedGen:C1842937,OMIM:607842 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Abnormal zygomatic bone morphology human_phenotype_ontology_hp_0010668_human_phenotype_ontology_hp_0012369_medgen_c4023749 Human_Phenotype_Ontology:HP:0010668,Human_Phenotype_Ontology:HP:0012369,MedGen:C4023749 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Abnormal posterior cranial fossa morphology human_phenotype_ontology_hp_0000932_human_phenotype_ontology_hp_0007306_medgen_c3280768 Human_Phenotype_Ontology:HP:0000932,Human_Phenotype_Ontology:HP:0007306,MedGen:C3280768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Abnormal pinna morphology human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Semilobar holoprosencephaly human_phenotype_ontology_hp_0002507_mondo_mondo_0700419_medgen_c0751617_orphanet_220386 Human_Phenotype_Ontology:HP:0002507,MONDO:MONDO:0700419,MedGen:C0751617,Orphanet:220386 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Rosette-forming glioneuronal tumor human_phenotype_ontology_hp_0025171_mondo_mondo_0016736_medgen_c4331262_orphanet_251975 Human_Phenotype_Ontology:HP:0025171,MONDO:MONDO:0016736,MedGen:C4331262,Orphanet:251975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Pilomyxoid astrocytoma mondo_mondo_0016692_medgen_c1519086_orphanet_251615 MONDO:MONDO:0016692,MedGen:C1519086,Orphanet:251615 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Microform holoprosencephaly mondo_mondo_0017219_medgen_c5393309_orphanet_280200 MONDO:MONDO:0017219,MedGen:C5393309,Orphanet:280200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Lobar holoprosencephaly human_phenotype_ontology_hp_0006870_mondo_mondo_0019756_medgen_c0431362_orphanet_93924 Human_Phenotype_Ontology:HP:0006870,MONDO:MONDO:0019756,MedGen:C0431362,Orphanet:93924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Hypogonadism with anosmia mondo_mondo_0018800_medgen_c0162809_orphanet_478 MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Autosomal recessive FGFR1-related disorders autosomal_recessive_fgfr1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF9 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF8 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF4 Thoracic dysostosis, isolated mondo_mondo_0979242_medgen_c6012747_omim_621260 MONDO:MONDO:0979242,MedGen:C6012747,OMIM:621260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF3 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF23 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF23 Hypophosphatemic rickets human_phenotype_ontology_hp_0004912_mondo_mondo_0024300_mesh_d063730_medgen_c1704375 Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF23 Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome mondo_mondo_0100251_medgen_c1876187_orphanet_306661 MONDO:MONDO:0100251,MedGen:C1876187,Orphanet:306661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF17 Hypogonadotropic hypogonadism 20 without anosmia medgen_c4016855 MedGen:C4016855 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF16 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF16 FGF16-related disorder fgf16_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF14 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF14 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF12 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF12 FGF12-related disorder fgf12_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF12 Early onset epileptic encephalopathy early_onset_epileptic_encephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF10 Orofacial cleft 1 mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF10 Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGF10 Interstitial lung disease specific to childhood mondo_mondo_0017014_medgen_c5679752_orphanet_264656 MONDO:MONDO:0017014,MedGen:C5679752,Orphanet:264656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD4 Charcot-Marie-Tooth disease type 4A mondo_mondo_0008961_medgen_c1859198_omim_214400_orphanet_99948 MONDO:MONDO:0008961,MedGen:C1859198,OMIM:214400,Orphanet:99948 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD1 Polyhydramnios human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGB FIBRINOGEN CHRISTCHURCH 2 fibrinogen_christchurch_2 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGB Afibrinogenemia human_phenotype_ontology_hp_0034287_mesh_d000347_medgen_c0001733_orphanet_200418 Human_Phenotype_Ontology:HP:0034287,MeSH:D000347,MedGen:C0001733,Orphanet:200418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Familial hypodysfibrinogenemia mondo_mondo_0016638_medgen_c1859970_orphanet_248408 MONDO:MONDO:0016638,MedGen:C1859970,Orphanet:248408 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA FIBRINOGEN DUSART fibrinogen_dusart . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA FIBRINOGEN DETROIT 1 fibrinogen_detroit_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA FIBRINOGEN CANTERBURY fibrinogen_canterbury . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA FIBRINOGEN AARHUS 1 fibrinogen_aarhus_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Deep venous thrombosis human_phenotype_ontology_hp_0002625_mesh_d020246_medgen_c0149871 Human_Phenotype_Ontology:HP:0002625,MeSH:D020246,MedGen:C0149871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Congenital factor V deficiency mondo_mondo_0009210_medgen_c0015499_omim_227400_orphanet_326 MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Afibrinogenemia human_phenotype_ontology_hp_0034287_mesh_d000347_medgen_c0001733_orphanet_200418 Human_Phenotype_Ontology:HP:0034287,MeSH:D000347,MedGen:C0001733,Orphanet:200418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FFAR4 Progressive retinal dystrophy due to retinol transport defect mondo_mondo_0014060_medgen_c3554593_omim_615147_orphanet_352718 MONDO:MONDO:0014060,MedGen:C3554593,OMIM:615147,Orphanet:352718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FFAR1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FEZF2 Neurodevelopmental phenotype neurodevelopmental_phenotype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FEZF2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FEZF2 FEZF2-related neurodevelopmental condition fezf2_related_neurodevelopmental_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERRY3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERRY3 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERRY3 C12orf4-related disorder c12orf4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERRY3 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERMT3 Leukocyte adhesion deficiency mondo_mondo_0017570_medgen_c0272187_orphanet_2968 MONDO:MONDO:0017570,MedGen:C0272187,Orphanet:2968 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERMT1 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FEM1C condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FEM1C Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FEM1B Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities mondo_mondo_0979245_medgen_c6012750_omim_621263 MONDO:MONDO:0979245,MedGen:C6012750,OMIM:621263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDXR Phenylketonuria mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDXR Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome mondo_mondo_0034092_medgen_c5681321_orphanet_543470 MONDO:MONDO:0034092,MedGen:C5681321,Orphanet:543470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDXR FDXR-related mitochondrial disorder fdxr_related_mitochondrial_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDX2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDX2 Inborn mitochondrial myopathy human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDX2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FDPS condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCN3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCN2 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCHO1 Immunodeficiency with T and B cell lymphopenia immunodeficiency_with_t_and_b_cell_lymphopenia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FCHO1 FCHO1-related disorder fcho1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 Pervasive developmental disorder mondo_mondo_0000594_medgen_c0524528_orphanet_168778 MONDO:MONDO:0000594,MedGen:C0524528,Orphanet:168778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 FBXW7-related neurodevelopmental disorder fbxw7_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXW7 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO7 FBXO7-related disorder fbxo7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO38 Distal hereditary motor neuropathy type 2 mondo_mondo_0015352_mesh_c580044_medgen_c3711384_orphanet_139525 MONDO:MONDO:0015352,MeSH:C580044,MedGen:C3711384,Orphanet:139525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO32 OMIM: 606604 omim_606604 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO31 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO31 Spastic cerebral palsy mondo_mondo_0000396_medgen_c0338596 MONDO:MONDO:0000396,MedGen:C0338596 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO31 Ectopic thyroid human_phenotype_ontology_hp_0100028_mondo_mondo_0019854_medgen_c0266283_orphanet_95712 Human_Phenotype_Ontology:HP:0100028,MONDO:MONDO:0019854,MedGen:C0266283,Orphanet:95712 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO28 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO22 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO22 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Papillary carcinoma of the corpus uteri mondo_mondo_0016268_medgen_c5679804_orphanet_213726 MONDO:MONDO:0016268,MedGen:C5679804,Orphanet:213726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Lynch syndrome 5 mondo_mondo_0013710_medgen_c1833477_omim_614350_orphanet_144 MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Hereditary nonpolyposis colorectal neoplasms mesh_d003123_medgen_c0009405 MeSH:D003123,MedGen:C0009405 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Joubert syndrome 10 mondo_mondo_0010431_medgen_c2749019_omim_300804_orphanet_2754 MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 Mitochondrial encephalomyopathy mondo_mondo_0004675_medgen_c0162666 MONDO:MONDO:0004675,MedGen:C0162666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 Developmental and epileptic encephalopathy, 85, with or without midline brain defects mondo_mondo_0026771_medgen_c5393312_omim_301044 MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBRSL1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBP1 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBP1 Deficiency of fructose-bisphosphatase medgen_c0019489 MedGen:C0019489 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 Neonatal death human_phenotype_ontology_hp_0003811_human_phenotype_ontology_hp_0003820_human_phenotype_ontology_hp_0003824_medgen_c0410916 Human_Phenotype_Ontology:HP:0003811,Human_Phenotype_Ontology:HP:0003820,Human_Phenotype_Ontology:HP:0003824,MedGen:C0410916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 FBN2-related disorders fbn2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 FBN2-related disorder fbn2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 Cerebral ischemia human_phenotype_ontology_hp_0002637_mondo_mondo_0005299_medgen_c0917798 Human_Phenotype_Ontology:HP:0002637,MONDO:MONDO:0005299,MedGen:C0917798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Wide nasal bridge human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Wide mouth human_phenotype_ontology_hp_0000154_human_phenotype_ontology_hp_0000181_human_phenotype_ontology_hp_0002052_medgen_c0024433 Human_Phenotype_Ontology:HP:0000154,Human_Phenotype_Ontology:HP:0000181,Human_Phenotype_Ontology:HP:0002052,MedGen:C0024433 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Thoracic aortic disease thoracic_aortic_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome mondo_mondo_0013362_medgen_c3150939_omim_613680_orphanet_363444 MONDO:MONDO:0013362,MedGen:C3150939,OMIM:613680,Orphanet:363444 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Structural eye disease structural_eye_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Relative macrocephaly human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Pulmonary artery dilatation human_phenotype_ontology_hp_0004927_medgen_c0428851 Human_Phenotype_Ontology:HP:0004927,MedGen:C0428851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Protrusio acetabuli human_phenotype_ontology_hp_0003179_mondo_mondo_0008320_medgen_c0409495_omim_177050 Human_Phenotype_Ontology:HP:0003179,MONDO:MONDO:0008320,MedGen:C0409495,OMIM:177050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Polycystic liver disease 1 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Pes valgus human_phenotype_ontology_hp_0008081_medgen_c1578482 Human_Phenotype_Ontology:HP:0008081,MedGen:C1578482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Perrault syndrome 1 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Metaphyseal chondrodysplasia human_phenotype_ontology_hp_0005871_human_phenotype_ontology_hp_0006377_mondo_mondo_0000138_medgen_c0265290 Human_Phenotype_Ontology:HP:0005871,Human_Phenotype_Ontology:HP:0006377,MONDO:MONDO:0000138,MedGen:C0265290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 MARFAN SYNDROME, SEVERE CLASSIC medgen_c4016052 MedGen:C4016052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 MARFAN SYNDROME, MILD VARIABLE medgen_c4016053 MedGen:C4016053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Loeys-Dietz syndrome mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Left ventricular diastolic dysfunction human_phenotype_ontology_hp_0025168_medgen_c1273070 Human_Phenotype_Ontology:HP:0025168,MedGen:C1273070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Ischemic stroke human_phenotype_ontology_hp_0002140_mondo_mondo_1060198_medgen_c0948008_omim_601367 Human_Phenotype_Ontology:HP:0002140,MONDO:MONDO:1060198,MedGen:C0948008,OMIM:601367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Inguinal hernia human_phenotype_ontology_hp_0000023_medgen_c0019294 Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Geleophysic dysplasia mondo_mondo_0000127_medgen_c3489726_omim_ps231050_orphanet_2623 MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050,Orphanet:2623 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Dolichocephaly human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Dissecting aortic dilatation human_phenotype_ontology_hp_0002622_medgen_c0012736 Human_Phenotype_Ontology:HP:0002622,MedGen:C0012736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Dilatation of the ascending aorta human_phenotype_ontology_hp_0005111_human_phenotype_ontology_hp_0005128_medgen_cn211363 Human_Phenotype_Ontology:HP:0005111,Human_Phenotype_Ontology:HP:0005128,MedGen:CN211363 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Dental crowding human_phenotype_ontology_hp_0000678_medgen_c0040433 Human_Phenotype_Ontology:HP:0000678,MedGen:C0040433 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Connective tissue dysplasia connective_tissue_dysplasia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Congenital scoliosis medgen_c0559260 MedGen:C0559260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Congenital diaphragmatic hernia human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Congenital contractural arachnodactyly mondo_mondo_0007363_medgen_c0220668_omim_121050_orphanet_115 MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Brugada syndrome 1 mondo_mondo_0011001_medgen_c4551804_omim_601144_orphanet_130 MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Ascending tubular aorta aneurysm human_phenotype_ontology_hp_0004970_medgen_c0856747 Human_Phenotype_Ontology:HP:0004970,MedGen:C0856747 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Ascending aortic dissection human_phenotype_ontology_hp_0004933_medgen_c1836653 Human_Phenotype_Ontology:HP:0004933,MedGen:C1836653 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Arthrogryposis, renal dysfunction, and cholestasis 1 mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Aortic dilatation human_phenotype_ontology_hp_0001724_medgen_c0265004 Human_Phenotype_Ontology:HP:0001724,MedGen:C0265004 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Aortic aneurysm human_phenotype_ontology_hp_0004942_mondo_mondo_0005160_medgen_c0003486 Human_Phenotype_Ontology:HP:0004942,MONDO:MONDO:0005160,MedGen:C0003486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Achondroplasia mondo_mondo_0007037_medgen_c0001080_omim_100800_orphanet_15 MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800,Orphanet:15 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBLN5 Macular degeneration, age-related, 3 mondo_mondo_0012145_medgen_c1837187_omim_608895_orphanet_280598 MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895,Orphanet:280598 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBLN5 Hereditary sensorimotor neuropathy with hyperelastic skin mondo_mondo_0017237_medgen_c5190690_orphanet_280598 MONDO:MONDO:0017237,MedGen:C5190690,Orphanet:280598 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBLN5 Cutis laxa, autosomal dominant 2 mondo_mondo_0013751_medgen_c3280794_omim_614434_orphanet_90348 MONDO:MONDO:0013751,MedGen:C3280794,OMIM:614434,Orphanet:90348 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBLN5 Cutis laxa, autosomal dominant mondo_mondo_0019571_medgen_c0268350_orphanet_90348 MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT4 Van Maldergem syndrome mondo_mondo_0017813_medgen_c1832390_omim_ps601390_orphanet_314679 MONDO:MONDO:0017813,MedGen:C1832390,OMIM:PS601390,Orphanet:314679 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT4 Autosomal recessive FAT4-related disorders autosomal_recessive_fat4_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT2 Spinocerebellar ataxia 45 mondo_mondo_0033480_medgen_c4540400_omim_617769_orphanet_589527 MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT1 Syndromic microphthalmia mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT1 Finnish congenital nephrotic syndrome mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAT1 Congenital myasthenic syndrome 12 mondo_mondo_0012518_medgen_c3552335_omim_610542_orphanet_353327_orphanet_590 MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASTKD2 FASTKD2-related disorder fastkd2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASTKD1 Glaucoma 1, open angle, B medgen_c3887942_omim_606689 MedGen:C3887942,OMIM:606689 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASN FASN-associated disorder fasn_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASLG condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASLG Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASLG AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB medgen_c1866120 MedGen:C1866120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS Splenomegaly human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS FAS-related disorder fas_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS Autoimmune lymphoproliferative syndrome with defective apoptosis autoimmune_lymphoproliferative_syndrome_with_defective_apoptosis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS Autoimmune lymphoproliferative syndrome mondo_mondo_0017979_medgen_cn301239_orphanet_3261 MONDO:MONDO:0017979,MedGen:CN301239,Orphanet:3261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARSB Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency mondo_mondo_0014206_medgen_c4225400_omim_615486_orphanet_440427 MONDO:MONDO:0014206,MedGen:C4225400,OMIM:615486,Orphanet:440427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 Mitochondrial encephalomyopathy mondo_mondo_0004675_medgen_c0162666 MONDO:MONDO:0004675,MedGen:C0162666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 Autosomal dominant Alport syndrome mondo_mondo_0007086_medgen_c5882663_omim_104200_orphanet_63_orphanet_88918 MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAR1 FAR1-related neurodevelopmental disorder far1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Retinoblastoma human_phenotype_ontology_hp_0009919_mondo_mondo_0008380_mesh_d012175_medgen_c0035335_omim_180200_orphanet_790 Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Malignant germ cell tumor of ovary mondo_mondo_0018171_medgen_c0346180_omim_603737_orphanet_35807 MONDO:MONDO:0018171,MedGen:C0346180,OMIM:603737,Orphanet:35807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Hereditary nonpolyposis colorectal carcinoma human_phenotype_ontology_hp_0006716_medgen_c4024989 Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCL VATER association mondo_mondo_0008642_medgen_c4225671_omim_192350_orphanet_887 MONDO:MONDO:0008642,MedGen:C4225671,OMIM:192350,Orphanet:887 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCL VACTERL association, X-linked, with or without hydrocephalus mondo_mondo_0010752_medgen_c2931228_omim_314390_orphanet_3412 MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390,Orphanet:3412 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCL Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCL Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCL FANCL-related disorder fancl_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCI Progressive sclerosing poliodystrophy mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCI Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG Pituitary stalk interruption syndrome mondo_mondo_0019828_medgen_c4053775_orphanet_95496 MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG Carcinoma of pancreas mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2OS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2OS FANCD2-related disorder fancd2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 Pigmentary skin disorders pigmentary_skin_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCB Intellectual developmental disorder, X-linked, syndromic, Pilorge type mondo_mondo_0024772_medgen_c5676881_omim_301076 MONDO:MONDO:0024772,MedGen:C5676881,OMIM:301076 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA Pituitary stalk interruption syndrome mondo_mondo_0019828_medgen_c4053775_orphanet_95496 MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA Neuroblastoma human_phenotype_ontology_hp_0003006_human_phenotype_ontology_hp_0006738_mondo_mondo_0005072_mesh_d009447_medgen_c0027819_orphanet_635 Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAN1 Kidney failure mondo_mondo_0001106_medgen_c0035078 MONDO:MONDO:0001106,MedGen:C0035078 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM98C Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM98C Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM83H condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM50A Non-syndromic X-linked intellectual disability mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM50A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM50A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM222A Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20C ketotic hypoglycaemia ketotic_hypoglycaemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20C Severe brain malformation severe_brain_malformation . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20C Neonatal death human_phenotype_ontology_hp_0003811_human_phenotype_ontology_hp_0003820_human_phenotype_ontology_hp_0003824_medgen_c0410916 Human_Phenotype_Ontology:HP:0003811,Human_Phenotype_Ontology:HP:0003820,Human_Phenotype_Ontology:HP:0003824,MedGen:C0410916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20C Cortical dysplasia human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20C Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20A FAM20A-related disorder fam20a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM186B Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM177A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM177A1 Mild obesity mild_obesity MedGen:CN228310 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM177A1 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM177A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM177A1 Dolichocephaly human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM171A2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM171A2 Neuronal ceroid lipofuscinosis 11 mondo_mondo_0013866_medgen_c3539123_omim_614706_orphanet_314629_orphanet_79262 MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM171A2 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions mondo_mondo_0011842_medgen_c1843792_omim_607485_orphanet_100070_orphanet_282 MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM167A Maturity-onset diabetes of the young type 11 mondo_mondo_0013242_medgen_c3150618_omim_613375_orphanet_552 MONDO:MONDO:0013242,MedGen:C3150618,OMIM:613375,Orphanet:552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM161A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM161A FAM161A-related disorder fam161a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM161A Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM149B1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM149B1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM136A Meniere disease mondo_mondo_0007972_medgen_c0025281_omim_156000 MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM131B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM131B Myotonia human_phenotype_ontology_hp_0002486_human_phenotype_ontology_hp_0003632_human_phenotype_ontology_hp_0003754_human_phenotype_ontology_hp_0003792_medgen_c0700153 Human_Phenotype_Ontology:HP:0002486,Human_Phenotype_Ontology:HP:0003632,Human_Phenotype_Ontology:HP:0003754,Human_Phenotype_Ontology:HP:0003792,MedGen:C0700153 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM131B Congenital myotonia, autosomal recessive form mondo_mondo_0009715_medgen_c0751360_omim_255700_orphanet_614 MONDO:MONDO:0009715,MedGen:C0751360,OMIM:255700,Orphanet:614 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM131B Congenital myotonia, autosomal dominant form mondo_mondo_0008055_medgen_c2936781_omim_160800_orphanet_614 MONDO:MONDO:0008055,MedGen:C2936781,OMIM:160800,Orphanet:614 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Hyperactive airways hyperactive_airways MedGen:CN228273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Gastroesophageal reflux human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Coarse facial features human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Chronic lung disease human_phenotype_ontology_hp_0006528_medgen_c0746102 Human_Phenotype_Ontology:HP:0006528,MedGen:C0746102 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM120AOS Bilateral cryptorchidism human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM111A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAHD1 Spermatogenic failure 22 mondo_mondo_0054726_medgen_c4540179_omim_617706 MONDO:MONDO:0054726,MedGen:C4540179,OMIM:617706 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAHD1 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAH Tyrosinemia type II mondo_mondo_0010160_medgen_c0268487_omim_276600_orphanet_28378 MONDO:MONDO:0010160,MedGen:C0268487,OMIM:276600,Orphanet:28378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAH T-substance anomaly mondo_mondo_0010158_medgen_c1848724_omim_276200 MONDO:MONDO:0010158,MedGen:C1848724,OMIM:276200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAH Beta-D-mannosidosis mondo_mondo_0009562_medgen_c4048196_omim_248510_orphanet_118 MONDO:MONDO:0009562,MedGen:C4048196,OMIM:248510,Orphanet:118 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAAH2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAAH2 Meckel-like syndrome meckel_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAAH Polysubstance abuse, susceptibility to mondo_mondo_0011685_medgen_c1847831_omim_606581 MONDO:MONDO:0011685,MedGen:C1847831,OMIM:606581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence FA2H Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FA2H Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 haemophilia B haemophilia_b . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Reduced factor IX activity human_phenotype_ontology_hp_0011858_medgen_c4023159 Human_Phenotype_Ontology:HP:0011858,MedGen:C4023159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Moderately severe hemophilia B mondo_mondo_0015716_medgen_c5679575_orphanet_169796 MONDO:MONDO:0015716,MedGen:C5679575,Orphanet:169796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F9 HEMOPHILIA B BRANDENBURG medgen_c4016497 MedGen:C4016497 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Interstitial lung disease due to ABCA3 deficiency mondo_mondo_0012582_medgen_c1970456_omim_610921_orphanet_440402 MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Hereditary thrombophilia mondo_mondo_0100240_medgen_c2584620_omim_ps188050_orphanet_217454 MONDO:MONDO:0100240,MedGen:C2584620,OMIM:PS188050,Orphanet:217454 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Familial aortopathy familial_aortopathy MedGen:CN078214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 FACTOR VIII (OKAYAMA) factor_viii_okayama . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 FACTOR VIII (EAST HARTFORD) factor_viii_east_hartford . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F8 F8-related disorders f8_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F7 Factor VII Padua medgen_c0214776 MedGen:C0214776 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Venous thromboembolism mondo_mondo_0005399_mesh_d054556_medgen_c1861172 MONDO:MONDO:0005399,MeSH:D054556,MedGen:C1861172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Thrombophilia caused by F2 prothrombin deficiency thrombophilia_caused_by_f2_prothrombin_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II dysprothrombinemia_prothrombin_himi_ii . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Coagulation factor deficiency syndrome medgen_c0272315 MedGen:C0272315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13B Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13B Factor XIII deficiency mondo_mondo_0002241_medgen_c4316906 MONDO:MONDO:0002241,MedGen:C4316906 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13B F13B-related disorder f13b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13B Coagulation factor deficiency syndrome medgen_c0272315 MedGen:C0272315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13B Cholesteatoma human_phenotype_ontology_hp_0009797_mondo_mondo_0006530_medgen_c0008373 Human_Phenotype_Ontology:HP:0009797,MONDO:MONDO:0006530,MedGen:C0008373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13A1 Intracranial hemorrhage human_phenotype_ontology_hp_0002170_medgen_c0151699 Human_Phenotype_Ontology:HP:0002170,MedGen:C0151699 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13A1 Hereditary factor XIII deficiency disease mondo_mondo_0018029_mesh_d005177_medgen_c0015530_orphanet_331 MONDO:MONDO:0018029,MeSH:D005177,MedGen:C0015530,Orphanet:331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 Urticaria human_phenotype_ontology_hp_0001025_mondo_mondo_0005492_medgen_c0042109 Human_Phenotype_Ontology:HP:0001025,MONDO:MONDO:0005492,MedGen:C0042109 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 Hyperbilirubinemia human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 Hereditary angioneurotic edema mondo_mondo_0019623_medgen_c0019243_omim_ps106100_orphanet_91378 MONDO:MONDO:0019623,MedGen:C0019243,OMIM:PS106100,Orphanet:91378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 FACTOR XII (WASHINGTON D.C.) factor_xii_washington_d_c . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 FACTOR XII (LOCARNO) factor_xii_locarno . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 F12-related disorder f12_related_disorder MedGen:CN239389 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F12 Angioedema human_phenotype_ontology_hp_0100665_human_phenotype_ontology_hp_0100666_mondo_mondo_0010481_mesh_d000799_medgen_c0002994 Human_Phenotype_Ontology:HP:0100665,Human_Phenotype_Ontology:HP:0100666,MONDO:MONDO:0010481,MeSH:D000799,MedGen:C0002994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 Factor XI deficiency mondo_mondo_0020587_medgen_c4321502 MONDO:MONDO:0020587,MedGen:C4321502 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 Factor XI factor_xi . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 Coagulation factor deficiency syndrome medgen_c0272315 MedGen:C0272315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F10 Factor x deficiency, autosomal dominant factor_x_deficiency_autosomal_dominant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F10 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH2 Childhood neoplasm mondo_mondo_0021079_medgen_c1368871 MONDO:MONDO:0021079,MedGen:C1368871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH1 EZH1-related disorder ezh1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Retinitis punctata albescens mondo_mondo_0018877_medgen_c1405854_orphanet_52427 MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Hereditary hyperferritinemia with congenital cataracts mondo_mondo_0010952_medgen_c1833213_omim_600886_orphanet_163 MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Bilateral renal agenesis human_phenotype_ontology_hp_0010958_mondo_mondo_0015986_medgen_c1609433_orphanet_1848 Human_Phenotype_Ontology:HP:0010958,MONDO:MONDO:0015986,MedGen:C1609433,Orphanet:1848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Anterior segment anomalies and cataract medgen_c4016751 MedGen:C4016751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Anhydramnios human_phenotype_ontology_hp_0025700_medgen_c0730379 Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Abnormal anterior chamber morphology human_phenotype_ontology_hp_0000593_medgen_c3152182 Human_Phenotype_Ontology:HP:0000593,MedGen:C3152182 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXTL3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT2 Hepatoblastoma human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 Exostoses human_phenotype_ontology_hp_0100777_mondo_mondo_0002181_medgen_c1442903 Human_Phenotype_Ontology:HP:0100777,MONDO:MONDO:0002181,MedGen:C1442903 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXPH5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC9 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC9 Kabuki syndrome 2 mondo_mondo_0010465_medgen_c3275495_omim_300867_orphanet_2322 MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC9 Cerebral atrophy human_phenotype_ontology_hp_0002059_human_phenotype_ontology_hp_0002422_human_phenotype_ontology_hp_0006890_medgen_c0235946 Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC8 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC8 Pontocerebellar hypoplasia, type 1C mondo_mondo_0014485_medgen_c4015160_omim_616081_orphanet_2254 MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081,Orphanet:2254 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Severe intrauterine growth retardation human_phenotype_ontology_hp_0008846_human_phenotype_ontology_hp_0008899_human_phenotype_ontology_hp_0008906_medgen_c1855843 Human_Phenotype_Ontology:HP:0008846,Human_Phenotype_Ontology:HP:0008899,Human_Phenotype_Ontology:HP:0008906,MedGen:C1855843 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Paucity of anterior horn motor neurons human_phenotype_ontology_hp_0007277_medgen_c2673351 Human_Phenotype_Ontology:HP:0007277,MedGen:C2673351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Hypoplasia of the pons human_phenotype_ontology_hp_0012110_medgen_c1848529 Human_Phenotype_Ontology:HP:0012110,MedGen:C1848529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 EXOSC3-related disorder exosc3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Congenital pontocerebellar hypoplasia type 1 mondo_mondo_0016396_medgen_c5442006_orphanet_2254 MONDO:MONDO:0016396,MedGen:C5442006,Orphanet:2254 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Abnormal cerebellum morphology human_phenotype_ontology_hp_0001317_medgen_c1866129 Human_Phenotype_Ontology:HP:0001317,MedGen:C1866129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC1 Pontocerebellar hypoplasia, type 1F mondo_mondo_0030261_medgen_c5543331_omim_619304 MONDO:MONDO:0030261,MedGen:C5543331,OMIM:619304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC4 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC3L2 Meckel-like syndrome meckel_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC3L2 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC3L2 EXOC3L2-related brain malformations and/or renal disease exoc3l2_related_brain_malformations_and_or_renal_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC3L2 Brain malformation renal syndrome mondo_mondo_0975799_medgen_c5975390_omim_620943 MONDO:MONDO:0975799,MedGen:C5975390,OMIM:620943 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOC2 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia mondo_mondo_0859141_medgen_c5543332_omim_619306 MONDO:MONDO:0859141,MedGen:C5543332,OMIM:619306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXO1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVX2 Synpolydactyly type 1 mondo_mondo_0008513_medgen_c5574994_omim_186000_orphanet_295195 MONDO:MONDO:0008513,MedGen:C5574994,OMIM:186000,Orphanet:295195 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVI2A Juvenile myelomonocytic leukemia human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVI2A Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVI2A Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EVC EVC-associated disorder evc_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Hermansky-Pudlak syndrome 1 mondo_mondo_0008748_medgen_c2931875_omim_203300_orphanet_231500_orphanet_79430 MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV5 Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV4 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETS1 ETS1-related disorder ets1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETS1 11q partial monosomy syndrome mondo_mondo_0007838_medgen_c0795841_omim_147791_orphanet_2308 MONDO:MONDO:0007838,MedGen:C0795841,OMIM:147791,Orphanet:2308 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETHE1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH Other rare neuromuscular disorders other_rare_neuromuscular_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II acyl_coa_dehydrogenase_deficiency_glutaric_acidemia_type_ii . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESX1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESRRB Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESRRB ESRRB-related disorder esrrb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESR2 Ovarian dysgenesis 8 mondo_mondo_0032590_medgen_c4748626_omim_618187 MONDO:MONDO:0032590,MedGen:C4748626,OMIM:618187 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESR1 Scoliosis, isolated, susceptibility to, 1 mondo_mondo_0008419_medgen_c2700406_omim_181800 MONDO:MONDO:0008419,MedGen:C2700406,OMIM:181800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESR1 Estrogen receptor mutant, temperature-sensitive medgen_c4016037 MedGen:C4016037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESR1 Cleft lip/palate mondo_mondo_0016044_medgen_c0158646_orphanet_199306 MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESR1 Arthrogryposis multiplex congenita 3, myogenic type mondo_mondo_0032778_medgen_c5193121_omim_618484 MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN Usher syndrome, type 1M mondo_mondo_0032841_medgen_c5231434_omim_618632 MONDO:MONDO:0032841,MedGen:C5231434,OMIM:618632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESPN Deafness, autosomal recessive 36, without vestibular involvement medgen_c3502293 MedGen:C3502293 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESCO2 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERMAP SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 scianna_blood_group_system_sc_1_2 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN1 Juvenile amyotrophic lateral sclerosis mondo_mondo_0017593_medgen_c3468114_orphanet_300605 MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERLIN1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERI1 Unilateral renal agenesis human_phenotype_ontology_hp_0000122_mondo_mondo_0019636_medgen_c0266294_orphanet_93100 Human_Phenotype_Ontology:HP:0000122,MONDO:MONDO:0019636,MedGen:C0266294,Orphanet:93100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERI1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERI1 ERI1-associated disorder eri1_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERI1 Coarse facial features human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERI1 Abnormal finger morphology human_phenotype_ontology_hp_0001167_human_phenotype_ontology_hp_0003035_medgen_c2674737 Human_Phenotype_Ontology:HP:0001167,Human_Phenotype_Ontology:HP:0003035,MedGen:C2674737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERGIC3 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERGIC2 Craniolenticulosutural dysplasia mondo_mondo_0011911_medgen_c1843042_omim_607812_orphanet_50814 MONDO:MONDO:0011911,MedGen:C1843042,OMIM:607812,Orphanet:50814 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERGIC1 Flexion contracture human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERGIC1 Arthrogryposis multiplex congenita 2, neurogenic type mondo_mondo_0008823_medgen_c5435650_omim_208100_orphanet_1143 MONDO:MONDO:0008823,MedGen:C5435650,OMIM:208100,Orphanet:1143 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Neonatal encephalopathy medgen_c0235820 MedGen:C0235820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF Common craniosynostosis syndromes common_craniosynostosis_syndromes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 NDUFAF2-related disorder ndufaf2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6L2 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6L2 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6L2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6L2 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive mondo_mondo_0100211_medgen_c5435698_omim_245590_orphanet_220465 MONDO:MONDO:0100211,MedGen:C5435698,OMIM:245590,Orphanet:220465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Autosomal recessive ERCC6-related disorders autosomal_recessive_ercc6_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Xeroderma pigmentosum-Cockayne syndrome complex mondo_mondo_0016354_medgen_c4304411_orphanet_220295 MONDO:MONDO:0016354,MedGen:C4304411,Orphanet:220295 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Polyneuropathy human_phenotype_ontology_hp_0001271_human_phenotype_ontology_hp_0006941_human_phenotype_ontology_hp_0007287_mondo_mondo_0001824_medgen_c0152025 Human_Phenotype_Ontology:HP:0001271,Human_Phenotype_Ontology:HP:0006941,Human_Phenotype_Ontology:HP:0007287,MONDO:MONDO:0001824,MedGen:C0152025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Pes cavus human_phenotype_ontology_hp_0001761_medgen_c0728829 Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Hepatoblastoma human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Dysarthria human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Cognitive impairment human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Abnormal corpus callosum morphology human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Precursor B-cell acute lymphoblastic leukemia human_phenotype_ontology_hp_0004812_mondo_mondo_0020511_medgen_c0349636_orphanet_99860 Human_Phenotype_Ontology:HP:0004812,MONDO:MONDO:0020511,MedGen:C0349636,Orphanet:99860 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Hutchinson-Gilford syndrome mondo_mondo_0008310_medgen_c0033300_omim_176670_orphanet_740 MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670,Orphanet:740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 ERCC4-related disorder ercc4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Autosomal recessive cerebellar ataxia mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Abnormality of blood and blood-forming tissues human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC3 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC3 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_omim_ps278700_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,OMIM:PS278700,Orphanet:910 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified medgen_c2826055 MedGen:C2826055 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Inflammatory bowel disease 1 mondo_mondo_0009960_medgen_cn260071_omim_266600 MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Hypotrichosis simplex mondo_mondo_0018914_mesh_c537160_medgen_c1854310_orphanet_55654 MONDO:MONDO:0018914,MeSH:C537160,MedGen:C1854310,Orphanet:55654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Craniopharyngioma human_phenotype_ontology_hp_0030062_mondo_mondo_0018907_mesh_d003397_medgen_c0010276_orphanet_54595 Human_Phenotype_Ontology:HP:0030062,MONDO:MONDO:0018907,MeSH:D003397,MedGen:C0010276,Orphanet:54595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC1 Premature ovarian insufficiency human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC1 Global proximal tubulopathy human_phenotype_ontology_hp_0012573_medgen_c4022839 Human_Phenotype_Ontology:HP:0012573,MedGen:C4022839 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC1 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC1 Cutaneous photosensitivity human_phenotype_ontology_hp_0000992_human_phenotype_ontology_hp_0005594_human_phenotype_ontology_hp_0006831_human_phenotype_ontology_hp_0007538_mondo_mondo_0005434_medgen_c0349506 Human_Phenotype_Ontology:HP:0000992,Human_Phenotype_Ontology:HP:0005594,Human_Phenotype_Ontology:HP:0006831,Human_Phenotype_Ontology:HP:0007538,MONDO:MONDO:0005434,MedGen:C0349506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC1 Cockayne syndrome mondo_mondo_0016006_medgen_c0009207_orphanet_191 MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC1 Cholestatic liver disease human_phenotype_ontology_hp_0002611_medgen_c0860204 Human_Phenotype_Ontology:HP:0002611,MedGen:C0860204 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation mondo_mondo_0014863_medgen_c4310766_omim_617011_orphanet_457359 MONDO:MONDO:0014863,MedGen:C4310766,OMIM:617011,Orphanet:457359 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB4 NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB4 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 Visceral neuropathy, familial, 2, autosomal recessive mondo_mondo_0030399_medgen_c5561950_omim_619465 MONDO:MONDO:0030399,MedGen:C5561950,OMIM:619465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 Glioma susceptibility 1 mondo_mondo_0024498_medgen_c2750850_omim_137800 MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERBB2 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERAP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERAL1 Perrault syndrome 6 mondo_mondo_0033047_medgen_c4479656_omim_617565 MONDO:MONDO:0033047,MedGen:C4479656,OMIM:617565 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERAL1 Perrault syndrome mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPRS1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPRS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPRS1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPOR Acute megakaryoblastic leukemia without down syndrome mondo_mondo_0018004_medgen_c5679860_orphanet_329469 MONDO:MONDO:0018004,MedGen:C5679860,Orphanet:329469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPO Diamond-Blackfan anemia-like mondo_mondo_0060662_medgen_c4693556_omim_617911 MONDO:MONDO:0060662,MedGen:C4693556,OMIM:617911 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPM2A Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPM2A EPM2A-related disorder epm2a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPM2A Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHX1 Hereditary lipodystrophy mondo_mondo_0020087_medgen_c4511302_orphanet_98305 MONDO:MONDO:0020087,MedGen:C4511302,Orphanet:98305 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 Arteriovenous malformation human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB2 Prostate cancer/brain cancer susceptibility mondo_mondo_0011361_medgen_c1863600_omim_603688_orphanet_1331 MONDO:MONDO:0011361,MedGen:C1863600,OMIM:603688,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB2 Bleeding disorder, platelet-type, 22 mondo_mondo_0032765_medgen_c5193111_omim_618462 MONDO:MONDO:0032765,MedGen:C5193111,OMIM:618462 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA4 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA4 atypical cerebral palsy atypical_cerebral_palsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA2 Congenital aniridia human_phenotype_ontology_hp_0000526_mondo_mondo_0019172_medgen_c0003076 Human_Phenotype_Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA2 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA2 Bilateral microphthalmos human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA10 Nonsyndromic Deafness mesh_c580334_medgen_c3711374 MeSH:C580334,MedGen:C3711374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHA10 Hearing loss, autosomal dominant 88 mondo_mondo_0859527_medgen_c5830355_omim_620283 MONDO:MONDO:0859527,MedGen:C5830355,OMIM:620283 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Hereditary nonpolyposis colorectal neoplasms mesh_d003123_medgen_c0009405 MeSH:D003123,MedGen:C0009405 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Colonic neoplasm human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB41L4A Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB41L4A Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB41L1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB41 Hereditary elliptocytosis mondo_mondo_0017319_medgen_c0013902_orphanet_288 MONDO:MONDO:0017319,MedGen:C0013902,Orphanet:288 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPAS1 Erythrocytosis, familial, 3 mondo_mondo_0012353_medgen_c1853286_omim_609820_orphanet_247511 MONDO:MONDO:0012353,MedGen:C1853286,OMIM:609820,Orphanet:247511 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Postaxial polydactyly human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Multiple congenital anomalies medgen_c0000772 MedGen:C0000772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 CHARGE syndrome mondo_mondo_0008965_medgen_c0265354_orphanet_138 MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EOGT Adams-Oliver syndrome mondo_mondo_0007034_medgen_c0265268_omim_ps100300_orphanet_974 MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS100300,Orphanet:974 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTREP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTPD2 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENTPD1 ENTPD1-related disorder entpd1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 Autosomal recessive ENPP1-related disorders autosomal_recessive_enpp1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY medgen_c2936858_omim_201910 MedGen:C2936858,OMIM:201910 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENO3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Telangiectasia of the skin human_phenotype_ontology_hp_0100585_medgen_c4022018 Human_Phenotype_Ontology:HP:0100585,MedGen:C4022018 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Spontaneous, recurrent epistaxis human_phenotype_ontology_hp_0003684_human_phenotype_ontology_hp_0004406_medgen_c3809715 Human_Phenotype_Ontology:HP:0003684,Human_Phenotype_Ontology:HP:0004406,MedGen:C3809715 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Pulmonary hypertension, primary, 1 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Pulmonary arteriovenous malformation human_phenotype_ontology_hp_0002114_human_phenotype_ontology_hp_0006537_human_phenotype_ontology_hp_0006548_medgen_c1857690 Human_Phenotype_Ontology:HP:0002114,Human_Phenotype_Ontology:HP:0006537,Human_Phenotype_Ontology:HP:0006548,MedGen:C1857690 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Palate telangiectasia human_phenotype_ontology_hp_0000229_human_phenotype_ontology_hp_0002707_medgen_c1857699 Human_Phenotype_Ontology:HP:0000229,Human_Phenotype_Ontology:HP:0002707,MedGen:C1857699 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Oral cavity telangiectasia human_phenotype_ontology_hp_0000228_medgen_c4025877 Human_Phenotype_Ontology:HP:0000228,MedGen:C4025877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Juvenile polyposis syndrome mondo_mondo_0017380_medgen_c0345893_omim_174900_orphanet_2929 MONDO:MONDO:0017380,MedGen:C0345893,OMIM:174900,Orphanet:2929 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Haemorrhagic telangiectasia 1 haemorrhagic_telangiectasia_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENAM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENAM Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EN1 ENDOVE syndrome, limb-brain type mondo_mondo_0030979_medgen_c5543142_omim_619218 MONDO:MONDO:0030979,MedGen:C5543142,OMIM:619218 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EN1 EN1 syndrome en1_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EML6 High myopia human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMILIN1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMILIN1 Neuronopathy, distal hereditary motor, autosomal dominant 10 mondo_mondo_0859300_medgen_c5774234_omim_620080 MONDO:MONDO:0859300,MedGen:C5774234,OMIM:620080 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMG1 Bowen-Conradi syndrome mondo_mondo_0008879_medgen_c1859405_omim_211180_orphanet_1270 MONDO:MONDO:0008879,MedGen:C1859405,OMIM:211180,Orphanet:1270 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EME2 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EME2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD X-linked myopathy with postural muscle atrophy mondo_mondo_0010401_medgen_c2678055_omim_300696_orphanet_178461 MONDO:MONDO:0010401,MedGen:C2678055,OMIM:300696,Orphanet:178461 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Flexion contracture human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD EMD-related disorder emd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD CARDIOMYOPATHY, DILATED, 3C cardiomyopathy_dilated_3c MedGen:CN380879,OMIM:301163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC10 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC10 EMC10-related disorder emc10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Sporadic aniridia sporadic_aniridia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 PAX6-related disorder pax6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Isolated optic nerve hypoplasia mondo_mondo_0008136_medgen_c1833797_omim_165550_orphanet_637061 MONDO:MONDO:0008136,MedGen:C1833797,OMIM:165550,Orphanet:637061 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Coloboma of optic nerve human_phenotype_ontology_hp_0000588_human_phenotype_ontology_hp_0007997_mondo_mondo_0007354_medgen_c0155299_omim_120430_orphanet_35737_orphanet_98947 Human_Phenotype_Ontology:HP:0000588,Human_Phenotype_Ontology:HP:0007997,MONDO:MONDO:0007354,MedGen:C0155299,OMIM:120430,Orphanet:35737,Orphanet:98947 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 Autosomal dominant keratitis mondo_mondo_0007848_medgen_c1835698_omim_148190_orphanet_2334 MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELP4 11p partial monosomy syndrome mondo_mondo_0008681_medgen_c0206115_omim_194072_orphanet_893 MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL4 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL4 ELOVL4-related ataxia elovl4_related_ataxia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELOVL1 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features mondo_mondo_0032798_medgen_c5193147_omim_618527 MONDO:MONDO:0032798,MedGen:C5193147,OMIM:618527 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELMOD3 Autosomal recessive nonsyndromic hearing loss 88 mondo_mondo_0014182_medgen_c2829267_omim_615429_orphanet_90636 MONDO:MONDO:0014182,MedGen:C2829267,OMIM:615429,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELFN1 Developmental and Epileptic Encephalopathy with Joint Laxity developmental_and_epileptic_encephalopathy_with_joint_laxity . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELF2 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome mondo_mondo_0044720_medgen_c3281223_omim_614575_orphanet_504476 MONDO:MONDO:0044720,MedGen:C3281223,OMIM:614575,Orphanet:504476 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELANE Autosomal dominant severe congenital neutropenia mondo_mondo_0008742_medgen_c4749612_orphanet_486 MONDO:MONDO:0008742,MedGen:C4749612,Orphanet:486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELAC2 Prostate cancer, hereditary, 2, susceptibility to prostate_cancer_hereditary_2_susceptibility_to . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELAC2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELAC2 ELAC2-related disorder elac2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF5A Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF4G3 Heparin cofactor II deficiency mondo_mondo_0012876_medgen_c0398626_omim_612356 MONDO:MONDO:0012876,MedGen:C0398626,OMIM:612356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF4A3 Richieri Costa-Pereira syndrome mondo_mondo_0009998_medgen_c1849348_omim_268305_orphanet_3102 MONDO:MONDO:0009998,MedGen:C1849348,OMIM:268305,Orphanet:3102 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF4A2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF4A2 Intellectual disability with muscular spams intellectual_disability_with_muscular_spams . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF3F condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF3F Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF3F Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF3F Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF3F Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF3F EIF3F-related disorder eif3f_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2S3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 Ovarioleukodystrophy medgen_c1847967_orphanet_99853 MedGen:C1847967,Orphanet:99853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B3 Leukoencephalopathy with vanishing white matter 1 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B3 EIF2B3-related disorder eif2b3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 Leukoencephalopathy with vanishing white matter 1 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK4 Pulmonary venoocclusive disease 1 mondo_mondo_0020713_medgen_c3887658_omim_265450_orphanet_31837 MONDO:MONDO:0020713,MedGen:C3887658,OMIM:265450,Orphanet:31837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK3 Menkes kinky-hair syndrome mondo_mondo_0010651_medgen_c0022716_omim_309400_orphanet_565 MONDO:MONDO:0010651,MedGen:C0022716,OMIM:309400,Orphanet:565 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF1AX Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EI24 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT2 EHMT2-related Kleefstra-like syndrome ehmt2_related_kleefstra_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Synophrys human_phenotype_ontology_hp_0000664_human_phenotype_ontology_hp_0002210_medgen_c0431447 Human_Phenotype_Ontology:HP:0000664,Human_Phenotype_Ontology:HP:0002210,MedGen:C0431447 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Schizophrenia human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Coarse facial features human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Anteverted nares human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EHBP1L1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Squamous cell carcinoma of the head and neck mondo_mondo_0010150_mesh_d000077195_medgen_c1168401_omim_275355_orphanet_67037 MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Lip and oral cavity carcinoma mondo_mondo_0023644_medgen_c0220641 MONDO:MONDO:0023644,MedGen:C0220641 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR Cowden syndrome 1 mondo_mondo_0008021_medgen_cn072330_omim_158350 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGF condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGF Renal hypomagnesemia 4 mondo_mondo_0012717_medgen_c2673648_omim_611718_orphanet_34527 MONDO:MONDO:0012717,MedGen:C2673648,OMIM:611718,Orphanet:34527 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Mandibulofacial dysostosis human_phenotype_ontology_hp_0005321_mondo_mondo_0015483_medgen_cn004722_orphanet_155899 Human_Phenotype_Ontology:HP:0005321,MONDO:MONDO:0015483,MedGen:CN004722,Orphanet:155899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Hereditary syndromic Pierre Robin syndrome medgen_c5680982_orphanet_363294 MedGen:C5680982,Orphanet:363294 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Esophageal atresia human_phenotype_ontology_hp_0002032_mondo_mondo_0001044_mesh_d004933_medgen_c0014850 Human_Phenotype_Ontology:HP:0002032,MONDO:MONDO:0001044,MeSH:D004933,MedGen:C0014850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Cleft lip/palate mondo_mondo_0016044_medgen_c0158646_orphanet_199306 MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Chromatinopathy chromatinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFNB2 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFNB1 EFNB1-related disorder efnb1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFHC1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP2 Familial aortopathy familial_aortopathy MedGen:CN078214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP2 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Retinal pigment epithelial atrophy human_phenotype_ontology_hp_0007698_human_phenotype_ontology_hp_0007722_human_phenotype_ontology_hp_0008017_medgen_c1840457 Human_Phenotype_Ontology:HP:0007698,Human_Phenotype_Ontology:HP:0007722,Human_Phenotype_Ontology:HP:0008017,MedGen:C1840457 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Optic disc drusen human_phenotype_ontology_hp_0012426_mondo_mondo_0001746_medgen_c0029128 Human_Phenotype_Ontology:HP:0012426,MONDO:MONDO:0001746,MedGen:C0029128 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Night blindness human_phenotype_ontology_hp_0000662_human_phenotype_ontology_hp_0007653_human_phenotype_ontology_hp_0007725_human_phenotype_ontology_hp_0007865_human_phenotype_ontology_hp_0007895_mondo_mondo_0004588_medgen_c0028077 Human_Phenotype_Ontology:HP:0000662,Human_Phenotype_Ontology:HP:0007653,Human_Phenotype_Ontology:HP:0007725,Human_Phenotype_Ontology:HP:0007865,Human_Phenotype_Ontology:HP:0007895,MONDO:MONDO:0004588,MedGen:C0028077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 EFEMP1-related disorder efemp1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 EFEMP1-related connective tissue condition efemp1_related_connective_tissue_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Doyne honeycomb retinal dystrophy mondo_mondo_0007471_medgen_c1832174_omim_126600_orphanet_75376 MONDO:MONDO:0007471,MedGen:C1832174,OMIM:126600,Orphanet:75376 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP1 Blindness human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEFSEC Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly mondo_mondo_0013351_medgen_c3150921_omim_613668_orphanet_402364 MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668,Orphanet:402364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEFSEC Autosomal recessive non-syndromic intellectual disability mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF2KMT condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF2KMT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF2KMT Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1D Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1D Myelodysplastic syndrome associated with isolated del(5q) mondo_mondo_0007925_medgen_c1292779_omim_153550_orphanet_86841 MONDO:MONDO:0007925,MedGen:C1292779,OMIM:153550,Orphanet:86841 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1D Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1D Autosomal recessive non-syndromic intellectual disability mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1B2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1B2 Moderate global developmental delay human_phenotype_ontology_hp_0011343_medgen_c2237142 Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1B2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1AKMT4 ALG3-congenital disorder of glycosylation mondo_mondo_0010998_medgen_c1832736_omim_601110_orphanet_79321 MONDO:MONDO:0010998,MedGen:C1832736,OMIM:601110,Orphanet:79321 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1A2 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EED Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EED Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB Hirschsprung disease, susceptibility to, 2 mondo_mondo_0010833_medgen_c1838564_omim_600155_orphanet_388 MONDO:MONDO:0010833,MedGen:C1838564,OMIM:600155,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDNRB ABCD syndrome mondo_mondo_0010895_medgen_c1838099_omim_600501 MONDO:MONDO:0010895,MedGen:C1838099,OMIM:600501 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDN3 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDEM3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDARADD Tooth agenesis human_phenotype_ontology_hp_0009804_medgen_c4024202 Human_Phenotype_Ontology:HP:0009804,MedGen:C4024202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDARADD ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT ectodermal_dysplasia_11b_hypohidrotic_hair_tooth_type_autosomal_dominant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Oligodontia human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive mondo_mondo_0013983_medgen_c3539920_omim_614941_orphanet_238468_orphanet_248 MONDO:MONDO:0013983,MedGen:C3539920,OMIM:614941,Orphanet:238468,Orphanet:248 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR EDAR-related disorder edar_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA2R Hypodontia human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA Tooth agenesis, selective, 2 mondo_mondo_0011265_medgen_c1865092_omim_602639 MONDO:MONDO:0011265,MedGen:C1865092,OMIM:602639 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDA Oligodontia human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECEL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECEL1 Arthrogryposis mondo_mondo_0008779_medgen_c0003886 MONDO:MONDO:0008779,MedGen:C0003886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBP EBP-related disorder ebp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBP Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBP CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL medgen_c4016464 MedGen:C4016464 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Vesicoureteral reflux human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Renal tubular dysgenesis human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Recurrent urinary tract infections human_phenotype_ontology_hp_0000010_human_phenotype_ontology_hp_0000094_medgen_c0262655 Human_Phenotype_Ontology:HP:0000010,Human_Phenotype_Ontology:HP:0000094,MedGen:C0262655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Oromandibular-limb hypogenesis spectrum mondo_mondo_0008006_medgen_c0221060_omim_157900_orphanet_570 MONDO:MONDO:0008006,MedGen:C0221060,OMIM:157900,Orphanet:570 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Neurogenic bladder human_phenotype_ontology_hp_0000011_medgen_c0005697 Human_Phenotype_Ontology:HP:0000011,MedGen:C0005697 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Isolated Pierre-Robin syndrome human_phenotype_ontology_hp_0000201_mondo_mondo_0009869_medgen_c0031900_omim_261800_orphanet_718 Human_Phenotype_Ontology:HP:0000201,MONDO:MONDO:0009869,MedGen:C0031900,OMIM:261800,Orphanet:718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Hhypotonia, ataxia, and delayed development syndrome hhypotonia_ataxia_and_delayed_development_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Growth abnormality human_phenotype_ontology_hp_0001507_human_phenotype_ontology_hp_0008904_medgen_c0262361 Human_Phenotype_Ontology:HP:0001507,Human_Phenotype_Ontology:HP:0008904,MedGen:C0262361 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Developmental regression human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Constipation human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Broad-based gait human_phenotype_ontology_hp_0002136_medgen_c0856863 Human_Phenotype_Ontology:HP:0002136,MedGen:C0856863 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Prominent forehead human_phenotype_ontology_hp_0011220_human_phenotype_ontology_hp_0200061_medgen_c1837260 Human_Phenotype_Ontology:HP:0011220,Human_Phenotype_Ontology:HP:0200061,MedGen:C1837260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Limb tremor human_phenotype_ontology_hp_0200085_medgen_c0235081 Human_Phenotype_Ontology:HP:0200085,MedGen:C0235081 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 High palate human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 EARS2-related disorder ears2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Bilateral tonic-clonic seizure human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Abnormal pinna morphology human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EARS2 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence E4F1 Pyruvate dehydrogenase complex deficiency mondo_mondo_0019169_medgen_c0034345_omim_ps312170_orphanet_765_orphanet_79243 MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence E2F6 Ciliary dyskinesia, primary, 40 mondo_mondo_0032664_medgen_c4749028_omim_618300 MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Proximal muscle weakness human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Peroneal muscle atrophy human_phenotype_ontology_hp_0008939_human_phenotype_ontology_hp_0008982_human_phenotype_ontology_hp_0009049_medgen_c1389118 Human_Phenotype_Ontology:HP:0008939,Human_Phenotype_Ontology:HP:0008982,Human_Phenotype_Ontology:HP:0009049,MedGen:C1389118 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Foot dorsiflexor weakness human_phenotype_ontology_hp_0003377_human_phenotype_ontology_hp_0009027_medgen_c1866141 Human_Phenotype_Ontology:HP:0003377,Human_Phenotype_Ontology:HP:0009027,MedGen:C1866141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Absent muscle fiber dysferlin human_phenotype_ontology_hp_0030114_medgen_c4022631 Human_Phenotype_Ontology:HP:0030114,MedGen:C4022631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Generalized-onset seizure human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNLT2B Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I2 DYNC2I2-related disorder dync2i2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I1 DYNC2I1-related disorder dync2i1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I1 Cystic renal disease cystic_renal_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Short ribs human_phenotype_ontology_hp_0000773_human_phenotype_ontology_hp_0000899_human_phenotype_ontology_hp_0000908_human_phenotype_ontology_hp_0009750_medgen_c0426817 Human_Phenotype_Ontology:HP:0000773,Human_Phenotype_Ontology:HP:0000899,Human_Phenotype_Ontology:HP:0000908,Human_Phenotype_Ontology:HP:0009750,MedGen:C0426817 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Short rib-polydactyly syndrome mondo_mondo_0015461_medgen_c0036996_orphanet_1505 MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Short long bone human_phenotype_ontology_hp_0000949_human_phenotype_ontology_hp_0003026_human_phenotype_ontology_hp_0004983_human_phenotype_ontology_hp_0004988_human_phenotype_ontology_hp_0005000_human_phenotype_ontology_hp_0005029_human_phenotype_ontology_hp_0005044_human_phenotype_ontology_hp_0005052_human_phenotype_ontology_hp_0005077_human_phenotype_ontology_hp_0005083_human_phenotype_ontology_hp_0005647_human_phenotype_ontology_hp_0005822_human_phenotype_ontology_hp_0006382_human_phenotype_ontology_hp_0006457_human_phenotype_ontology_hp_0006472_medgen_c1854912 Human_Phenotype_Ontology:HP:0000949,Human_Phenotype_Ontology:HP:0003026,Human_Phenotype_Ontology:HP:0004983,Human_Phenotype_Ontology:HP:0004988,Human_Phenotype_Ontology:HP:0005000,Human_Phenotype_Ontology:HP:0005029,Human_Phenotype_Ontology:HP:0005044,Human_Phenotype_Ontology:HP:0005052,Human_Phenotype_Ontology:HP:0005077,Human_Phenotype_Ontology:HP:0005083,Human_Phenotype_Ontology:HP:0005647,Human_Phenotype_Ontology:HP:0005822,Human_Phenotype_Ontology:HP:0006382,Human_Phenotype_Ontology:HP:0006457,Human_Phenotype_Ontology:HP:0006472,MedGen:C1854912 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Neonatal respiratory distress human_phenotype_ontology_hp_0002643_medgen_c4281993 Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Deformed rib cage human_phenotype_ontology_hp_0000886_medgen_c1838659 Human_Phenotype_Ontology:HP:0000886,MedGen:C1838659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Autosomal recessive polycystic kidney disease mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Autosomal dominant Robinow syndrome 2 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Asphyxiating thoracic dystrophy 4 mondo_mondo_0013441_medgen_c3151185_omim_613819_orphanet_474 MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Arrhythmogenic right ventricular dysplasia 10 mondo_mondo_0012434_medgen_c1857777_omim_610193 MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Abnormality of the lung human_phenotype_ontology_hp_0002088_medgen_c4021760 Human_Phenotype_Ontology:HP:0002088,MedGen:C4021760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1I2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Spinal muscular atrophy human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Progressive muscle weakness human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 mondo_mondo_0014407_medgen_c4014738_omim_615937_orphanet_83473 MONDO:MONDO:0014407,MedGen:C4014738,OMIM:615937,Orphanet:83473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Lower limb muscle weakness human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Hereditary motor and sensory neuropathy mondo_mondo_0015358_medgen_c0027888 MONDO:MONDO:0015358,MedGen:C0027888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 DYNC1H1-related neurodevelopmental disorders dync1h1_related_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Abnormality of neuronal migration human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYM Early-onset non-syndromic cataract human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Tented upper lip vermilion human_phenotype_ontology_hp_0010804_human_phenotype_ontology_hp_0100895_medgen_c1839767 Human_Phenotype_Ontology:HP:0010804,Human_Phenotype_Ontology:HP:0100895,MedGen:C1839767 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Short toe human_phenotype_ontology_hp_0001767_human_phenotype_ontology_hp_0001781_human_phenotype_ontology_hp_0001831_human_phenotype_ontology_hp_0001855_human_phenotype_ontology_hp_0004701_human_phenotype_ontology_hp_0005889_human_phenotype_ontology_hp_0008099_medgen_c1836195 Human_Phenotype_Ontology:HP:0001767,Human_Phenotype_Ontology:HP:0001781,Human_Phenotype_Ontology:HP:0001831,Human_Phenotype_Ontology:HP:0001855,Human_Phenotype_Ontology:HP:0004701,Human_Phenotype_Ontology:HP:0005889,Human_Phenotype_Ontology:HP:0008099,MedGen:C1836195 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Short finger human_phenotype_ontology_hp_0004098_human_phenotype_ontology_hp_0006015_human_phenotype_ontology_hp_0009381_medgen_c1844548 Human_Phenotype_Ontology:HP:0004098,Human_Phenotype_Ontology:HP:0006015,Human_Phenotype_Ontology:HP:0009381,MedGen:C1844548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Midface retrusion human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Lumbar hyperlordosis human_phenotype_ontology_hp_0002938_human_phenotype_ontology_hp_0002941_human_phenotype_ontology_hp_0004560_human_phenotype_ontology_hp_0004574_human_phenotype_ontology_hp_0004596_medgen_c1184923 Human_Phenotype_Ontology:HP:0002938,Human_Phenotype_Ontology:HP:0002941,Human_Phenotype_Ontology:HP:0004560,Human_Phenotype_Ontology:HP:0004574,Human_Phenotype_Ontology:HP:0004596,MedGen:C1184923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Genu valgum human_phenotype_ontology_hp_0002857_human_phenotype_ontology_hp_0004999_medgen_c0576093 Human_Phenotype_Ontology:HP:0002857,Human_Phenotype_Ontology:HP:0004999,MedGen:C0576093 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Dental crowding human_phenotype_ontology_hp_0000678_medgen_c0040433 Human_Phenotype_Ontology:HP:0000678,MedGen:C0040433 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Clinodactyly of the 5th finger human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL3 Anteverted nares human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL2 ACADVL-related disorder acadvl_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DVL1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUT Bone marrow failure and diabetes mellitus syndrome mondo_mondo_0859288_medgen_c5774218_omim_620044 MONDO:MONDO:0859288,MedGen:C5774218,OMIM:620044 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia mondo_mondo_0014105_medgen_c3808981_omim_615269_orphanet_478 MONDO:MONDO:0014105,MedGen:C3808981,OMIM:615269,Orphanet:478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUS4L COG5-congenital disorder of glycosylation mondo_mondo_0013325_medgen_c3150876_omim_613612_orphanet_263487 MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUS1L Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUS1L Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUS1L Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOXA2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DTNBP1 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DTNA Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 mondo_mondo_0975830_medgen_c5975449_omim_620971 MONDO:MONDO:0975830,MedGen:C5975449,OMIM:620971 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSTYK Hereditary spastic paraplegia 23 mondo_mondo_0010046_medgen_c0796019_omim_270750_orphanet_101003 MONDO:MONDO:0010046,MedGen:C0796019,OMIM:270750,Orphanet:101003 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Multiple sclerosis mondo_mondo_0005301_medgen_c0026769 MONDO:MONDO:0005301,MedGen:C0026769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Distal spinal muscular atrophy mondo_mondo_0018894_medgen_c0393541_orphanet_53739 MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Congenital contracture human_phenotype_ontology_hp_0002803_mondo_mondo_0022823_medgen_c0332878 Human_Phenotype_Ontology:HP:0002803,MONDO:MONDO:0022823,MedGen:C0332878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Autosomal dominant DSPP-related disorders autosomal_dominant_dspp_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Ventricular tachycardia efo_the_experimental_factor_ontology_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 EFO:_The_Experimental_Factor_Ontology:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Ventricular fibrillation efo_the_experimental_factor_ontology_efo_0004287_human_phenotype_ontology_hp_0001663_human_phenotype_ontology_hp_0005166_mondo_mondo_0000190_medgen_c0042510 EFO:_The_Experimental_Factor_Ontology:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Ventricular arrhythmia human_phenotype_ontology_hp_0004308_medgen_c0085612 Human_Phenotype_Ontology:HP:0004308,MedGen:C0085612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Sudden cardiac death efo_the_experimental_factor_ontology_efo_0004278_human_phenotype_ontology_hp_0001645_human_phenotype_ontology_hp_0005161_mesh_d016757_medgen_c0085298 EFO:_The_Experimental_Factor_Ontology:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Skin fragility-woolly hair-palmoplantar keratoderma syndrome mondo_mondo_0011882_medgen_c4755263_orphanet_293165 MONDO:MONDO:0011882,MedGen:C4755263,Orphanet:293165 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Right ventricular cardiomyopathy human_phenotype_ontology_hp_0011663_medgen_c2063326 Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Progressive familial heart block mondo_mondo_0019490_medgen_cn230454_omim_ps113900_orphanet_871 MONDO:MONDO:0019490,MedGen:CN230454,OMIM:PS113900,Orphanet:871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Non-compaction cardiomyopathy mondo_mondo_0005418_medgen_c4324548 MONDO:MONDO:0005418,MedGen:C4324548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Left ventricular noncompaction cardiomyopathy human_phenotype_ontology_hp_0011664_medgen_c4021133 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Dilated cardiomyopathy 1G mondo_mondo_0011400_medgen_c1858763_omim_604145_orphanet_154 MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP DSP-related cardiomyopathy dsp_related_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP DSP-related arrhythmogenic cardiomyopathy dsp_related_arrhythmogenic_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Cardiac arrest human_phenotype_ontology_hp_0001695_mondo_mondo_0000745_medgen_c0018790 Human_Phenotype_Ontology:HP:0001695,MONDO:MONDO:0000745,MedGen:C0018790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Bicuspid aortic valve human_phenotype_ontology_hp_0001647_medgen_c0149630 Human_Phenotype_Ontology:HP:0001647,MedGen:C0149630 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Aortic dilatation human_phenotype_ontology_hp_0001724_medgen_c0265004 Human_Phenotype_Ontology:HP:0001724,MedGen:C0265004 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG4 Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG3 Blistering, acantholytic, of oral and laryngeal mucosa mondo_mondo_0030986_medgen_c5543184_omim_619226 MONDO:MONDO:0030986,MedGen:C5543184,OMIM:619226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Sudden cardiac death efo_efo_0004278_human_phenotype_ontology_hp_0001645_human_phenotype_ontology_hp_0005161_mesh_d016757_medgen_c0085298 EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Arrhythmogenic right ventricular dysplasia 9 mondo_mondo_0012180_medgen_c1836906_omim_609040 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 Epidermal disease mondo_mondo_0019268_medgen_c5681492_orphanet_79353 MONDO:MONDO:0019268,MedGen:C5681492,Orphanet:79353 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 Diffuse palmoplantar hyperkeratosis human_phenotype_ontology_hp_0007435_human_phenotype_ontology_hp_0007447_mondo_mondo_0017666_medgen_c0022584_orphanet_307141 Human_Phenotype_Ontology:HP:0007435,Human_Phenotype_Ontology:HP:0007447,MONDO:MONDO:0017666,MedGen:C0022584,Orphanet:307141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 Bicuspid aortic valve human_phenotype_ontology_hp_0001647_medgen_c0149630 Human_Phenotype_Ontology:HP:0001647,MedGen:C0149630 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG1 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSCAM condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSCAM DSCAM-related disorder dscam_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSCAM Aganglionic megacolon human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 Familial isolated arrhythmogenic right ventricular dysplasia mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 DSC2-related disorder dsc2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair medgen_c3552311 MedGen:C3552311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA arrhythmogenic_right_ventricular_dysplasia_familial_11_with_or_without_mild_palmoplantar_keratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRP2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DROSHA Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DROSHA Hepatoblastoma human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRG1 Flexion contracture human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRD4 Hereditary attention deficit-hyperactivity disorder mondo_mondo_0100518_medgen_cn324066_omim_143465 MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC4 GAS8-related disorder gas8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC2 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC1 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRAM2 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRAM2 End-stage retinitis pigmentosa end_stage_retinitis_pigmentosa . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYSL5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYSL5 Ritscher-Schinzel syndrome 4 mondo_mondo_0030331_medgen_c5561939_omim_619435 MONDO:MONDO:0030331,MedGen:C5561939,OMIM:619435 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYSL5 DPYSL5-related disorder dpysl5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYSL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYD Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYD Fluorouracil response mondo_mondo_0027652_medgen_cn077983 MONDO:MONDO:0027652,MedGen:CN077983 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYD 5-fluorouracil response 5_fluorouracil_response . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPT Progressive sensorineural hearing impairment human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPRX Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPPA2 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPP9 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPP6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPP6 Ventricular fibrillation, paroxysmal familial, 2 mondo_mondo_0013063_medgen_c2751829_omim_612956_orphanet_228140 MONDO:MONDO:0013063,MedGen:C2751829,OMIM:612956,Orphanet:228140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPP6 Intellectual disability, autosomal dominant 33 mondo_mondo_0014580_medgen_c4225375_omim_616311 MONDO:MONDO:0014580,MedGen:C4225375,OMIM:616311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM3 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM3 EMG: myopathic abnormalities human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM3 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM1 DPM1-related disorder dpm1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH2 diphthamide-deficiency syndrome diphthamide_deficiency_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH1 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH1 Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH1 DPH1-related disorder dph1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPH1 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPF2 Coffin-Siris syndrome 1 mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPAGT1 Myopathy with tubular aggregates mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPAGT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPAGT1 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOT1L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOT1L DOT1L-related condition dot1l_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOP1A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOP1A Hyper-IgE syndrome mondo_mondo_0018037_medgen_c3887645_omim_ps147060_orphanet_331223 MONDO:MONDO:0018037,MedGen:C3887645,OMIM:PS147060,Orphanet:331223 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON Meier-Gorlin syndrome 1 mondo_mondo_0009143_medgen_c4552001_omim_224690_orphanet_2554 MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON MEIER-GORLIN SYNDROME 10 meier_gorlin_syndrome_10 MedGen:CN381026,OMIM:621528 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DONSON DONSON-related microcephaly-short stature-limb abnormalities spectrum mondo_mondo_0035534_medgen_c5681722_orphanet_572761 MONDO:MONDO:0035534,MedGen:C5681722,Orphanet:572761 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Rett syndrome mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Autosomal recessive DOK7-related disorders autosomal_recessive_dok7_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK8 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK7 Fetal akinesia deformation sequence 3 mondo_mondo_0100103_medgen_c4760599_omim_618389 MONDO:MONDO:0100103,MedGen:C4760599,OMIM:618389 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK7 ANGPTL3-related disorder angptl3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK6 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK6 Hypercholanemia, familial 1 mondo_mondo_0031446_medgen_c5542604_omim_607748_orphanet_238475 MONDO:MONDO:0031446,MedGen:C5542604,OMIM:607748,Orphanet:238475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK6 Adams-Oliver syndrome 1 mondo_mondo_0024506_medgen_c4551482_omim_100300_orphanet_974 MONDO:MONDO:0024506,MedGen:C4551482,OMIM:100300,Orphanet:974 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Optic disc pallor human_phenotype_ontology_hp_0000543_human_phenotype_ontology_hp_0001148_human_phenotype_ontology_hp_0001484_medgen_c0554970 Human_Phenotype_Ontology:HP:0000543,Human_Phenotype_Ontology:HP:0001148,Human_Phenotype_Ontology:HP:0001484,MedGen:C0554970 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Large for gestational age human_phenotype_ontology_hp_0001520_human_phenotype_ontology_hp_0001825_medgen_c1848395 Human_Phenotype_Ontology:HP:0001520,Human_Phenotype_Ontology:HP:0001825,MedGen:C1848395 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Hypoparathyroidism human_phenotype_ontology_hp_0000829_human_phenotype_ontology_hp_0000856_human_phenotype_ontology_hp_0008292_mondo_mondo_0001220_medgen_c0020626 Human_Phenotype_Ontology:HP:0000829,Human_Phenotype_Ontology:HP:0000856,Human_Phenotype_Ontology:HP:0008292,MONDO:MONDO:0001220,MedGen:C0020626 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Glioblastoma mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Early T cell progenitor acute lymphoblastic leukemia mondo_mondo_0100291_medgen_c4329780 MONDO:MONDO:0100291,MedGen:C4329780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Clonal Cytopenia of Undetermined Significance medgen_c5442191 MedGen:C5442191 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT1 Pituitary stalk interruption syndrome mondo_mondo_0019828_medgen_c4053775_orphanet_95496 MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMBP Hydrocephalus, nonsyndromic, autosomal recessive 1 mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Sensorimotor neuropathy human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Fetal akinesia-cerebral and retinal hemorrhage syndrome mondo_mondo_0014149_medgen_c4706410_omim_615368_orphanet_363409 MONDO:MONDO:0014149,MedGen:C4706410,OMIM:615368,Orphanet:363409 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 DNM2-related disorders dnm2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Autosomal dominant Charcot-Marie-Tooth disease type 2M mondo_mondo_0016431_medgen_c4304672_orphanet_228179 MONDO:MONDO:0016431,MedGen:C4304672,Orphanet:228179 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L Encephalopathy due to mitochondrial and peroxisomal fission defect mondo_mondo_0054865_medgen_c5681458_omim_ps614388_orphanet_527276 MONDO:MONDO:0054865,MedGen:C5681458,OMIM:PS614388,Orphanet:527276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L DNM1L-related movement disorder dnm1l_related_movement_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L DNM1L-related mitochondrial disorders dnm1l_related_mitochondrial_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Lennox-Gastaut syndrome mondo_mondo_0016532_medgen_c0238111_orphanet_2382 MONDO:MONDO:0016532,MedGen:C0238111,Orphanet:2382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 DNM1-related disorders dnm1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 DNM1-related disorder dnm1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNASE1L3 DNASE1L3-related disorder dnase1l3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNASE1 Systemic lupus erythematosus human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNASE1 Congenital anomalies of kidney and urinary tract 1 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNALI1 Spermatogenic failure 83 mondo_mondo_0957250_medgen_c5830470_omim_620354 MONDO:MONDO:0957250,MedGen:C5830470,OMIM:620354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAL4 Mirror movements 3 mondo_mondo_0014478_medgen_c4015124_omim_616059_orphanet_238722 MONDO:MONDO:0014478,MedGen:C4015124,OMIM:616059,Orphanet:238722 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAL1 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC6 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC6 Parkinson disease 19B, early-onset mondo_mondo_0800369_medgen_c4310802 MONDO:MONDO:0800369,MedGen:C4310802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC6 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome mondo_mondo_0014523_medgen_c4015436_omim_616192_orphanet_445062 MONDO:MONDO:0014523,MedGen:C4015436,OMIM:616192,Orphanet:445062 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC5 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC30 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC30 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC30 Leber optic atrophy, susceptibility to mondo_mondo_0010640_medgen_c1839891_omim_308905_orphanet_104 MONDO:MONDO:0010640,MedGen:C1839891,OMIM:308905,Orphanet:104 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC30 DNAJC30-related disorder dnajc30_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC30 DNAJC30-associated disorder dnajc30_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC21 Shwachman-Diamond syndrome 1 mondo_mondo_0044204_medgen_c4692625_omim_260400 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC21 Shwachman syndrome mondo_mondo_0009833_medgen_c0272170_omim_ps260400_orphanet_811 MONDO:MONDO:0009833,MedGen:C0272170,OMIM:PS260400,Orphanet:811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC21 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC19 DNAJC19-related disorder dnajc19_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC19 3-Methylglutaconic aciduria type 3 mondo_mondo_0009787_medgen_c0574084_omim_258501_orphanet_67047 MONDO:MONDO:0009787,MedGen:C0574084,OMIM:258501,Orphanet:67047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC12 DNAJC12-related disorder dnajc12_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB6 Ehlers-Danlos syndrome, classic type, 2 mondo_mondo_0019568_medgen_c0268336_omim_130010_orphanet_287_orphanet_90318 MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB6 Ehlers-Danlos syndrome, classic type, 1 mondo_mondo_0019567_medgen_c0268335_omim_130000 MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB6 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB2 Charcot-Marie-Tooth disease axonal type 2T mondo_mondo_0014866_medgen_c4015635_omim_617017_orphanet_443950 MONDO:MONDO:0014866,MedGen:C4015635,OMIM:617017,Orphanet:443950 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB2 Charcot-Marie-Tooth disease X-linked dominant 1 mondo_mondo_0010549_medgen_c0393808_omim_302800_orphanet_101075 MONDO:MONDO:0010549,MedGen:C0393808,OMIM:302800,Orphanet:101075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 Multiple renal cysts human_phenotype_ontology_hp_0005562_medgen_c0431718 Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 Enlarged kidney human_phenotype_ontology_hp_0000105_medgen_c0542518 Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB11 Anhydramnios human_phenotype_ontology_hp_0025700_medgen_c0730379 Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI2 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI1 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH9 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH9 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH9 Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH8 Inherited obesity mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH7 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH7 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH7 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH7 Dyspnea human_phenotype_ontology_hp_0002094_medgen_c0013404 Human_Phenotype_Ontology:HP:0002094,MedGen:C0013404 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH7 Abnormal muscle tone human_phenotype_ontology_hp_0003808_medgen_c0852413 Human_Phenotype_Ontology:HP:0003808,MedGen:C0852413 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH7 Abnormal basal ganglia morphology human_phenotype_ontology_hp_0002134_human_phenotype_ontology_hp_0006952_human_phenotype_ontology_hp_0007257_mondo_mondo_0003996_medgen_c4520981 Human_Phenotype_Ontology:HP:0002134,Human_Phenotype_Ontology:HP:0006952,Human_Phenotype_Ontology:HP:0007257,MONDO:MONDO:0003996,MedGen:C4520981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH7 Abdominal situs inversus human_phenotype_ontology_hp_0003363_medgen_c0037221 Human_Phenotype_Ontology:HP:0003363,MedGen:C0037221 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH6 Ciliary dyskinesia, primary, 45 mondo_mondo_0032924_medgen_c5394104_omim_618801 MONDO:MONDO:0032924,MedGen:C5394104,OMIM:618801 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Primary Ciliary Dyskinesia (DNAH5-related) primary_ciliary_dyskinesia_dnah5_related . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Infertility disorder human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Glycine encephalopathy 1 mondo_mondo_0958179_medgen_cn376801_omim_605899 MONDO:MONDO:0958179,MedGen:CN376801,OMIM:605899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH17 Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 Situs inversus human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 Ciliary dyskinesia, primary, 37 mondo_mondo_0033204_medgen_c4539798_omim_617577 MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS ciliary_dyskinesia_primary_7_with_situs_inversus . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH10 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH10 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH10 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Non-syndromic male infertility due to sperm motility disorder medgen_c0403811_orphanet_276234 MedGen:C0403811,Orphanet:276234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Familial melanoma mondo_mondo_0018961_medgen_c1512419_orphanet_618 MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 BAP1-related tumor predisposition syndrome mondo_mondo_0013692_medgen_c3280492_omim_614327_orphanet_289539 MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF6 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF5 DNAAF5-related disorder dnaaf5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF4 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF3 Hypertrophic cardiomyopathy 4 mondo_mondo_0007268_medgen_c1861862_omim_115197 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 Situs inversus human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 Infertility disorder human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 Hereditary spastic paraplegia 50 mondo_mondo_0013048_medgen_c2752008_omim_612936_orphanet_280763 MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 Diarrhea 12, with microvillus atrophy mondo_mondo_0030335_medgen_c5561942_omim_619445 MONDO:MONDO:0030335,MedGen:C5561942,OMIM:619445 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 CCDC103-related disorder ccdc103_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF19 Absent inner and outer dynein arms human_phenotype_ontology_hp_0012259_medgen_c4022986 Human_Phenotype_Ontology:HP:0012259,MedGen:C4022986 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF11 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF11 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF1 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNA2 Autosomal recessive DNA2-related disorders autosomal_recessive_dna2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNA2 Ateleiotic dwarfism mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMXL2 Hearing loss, autosomal dominant 71 mondo_mondo_0033258_medgen_c4539881_omim_617605 MONDO:MONDO:0033258,MedGen:C4539881,OMIM:617605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMXL2 DMXL2-related disorder dmxl2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMRT3 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMRT2 SPONDYLOCOSTAL DYSOSTOSIS 7, AUTOSOMAL RECESSIVE spondylocostal_dysostosis_7_autosomal_recessive MedGen:CN380900,OMIM:621523 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMRT1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMRT1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMRT1 46,XY sex reversal 4 mondo_mondo_0007938_medgen_c2752149_omim_154230 MONDO:MONDO:0007938,MedGen:C2752149,OMIM:154230 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMPK Bethlem myopathy 1A mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMGDH condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD X-linked DMD-related dystrophinopathy x_linked_dmd_related_dystrophinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Proximal muscle weakness human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Proximal lower limb muscle weakness human_phenotype_ontology_hp_0002455_human_phenotype_ontology_hp_0008941_human_phenotype_ontology_hp_0008994_medgen_c1866010 Human_Phenotype_Ontology:HP:0002455,Human_Phenotype_Ontology:HP:0008941,Human_Phenotype_Ontology:HP:0008994,MedGen:C1866010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Progressive proximal muscle weakness human_phenotype_ontology_hp_0008965_human_phenotype_ontology_hp_0009073_medgen_c1836156 Human_Phenotype_Ontology:HP:0008965,Human_Phenotype_Ontology:HP:0009073,MedGen:C1836156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Progressive muscle weakness human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Muscle spasm human_phenotype_ontology_hp_0003394_human_phenotype_ontology_hp_0009018_medgen_c0037763 Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Exercise-induced rhabdomyolysis human_phenotype_ontology_hp_0009045_medgen_c4021526 Human_Phenotype_Ontology:HP:0009045,MedGen:C4021526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Exercise-induced myalgia human_phenotype_ontology_hp_0003738_medgen_c1850830 Human_Phenotype_Ontology:HP:0003738,MedGen:C1850830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Exercise-induced muscle stiffness human_phenotype_ontology_hp_0003633_human_phenotype_ontology_hp_0008967_medgen_c1855579 Human_Phenotype_Ontology:HP:0003633,Human_Phenotype_Ontology:HP:0008967,MedGen:C1855579 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Exercise-induced muscle fatigue human_phenotype_ontology_hp_0009020_medgen_c1855580 Human_Phenotype_Ontology:HP:0009020,MedGen:C1855580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Exercise-induced muscle cramps human_phenotype_ontology_hp_0003710_human_phenotype_ontology_hp_0008983_human_phenotype_ontology_hp_0009000_medgen_c1855578 Human_Phenotype_Ontology:HP:0003710,Human_Phenotype_Ontology:HP:0008983,Human_Phenotype_Ontology:HP:0009000,MedGen:C1855578 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD EMG abnormality human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Decreased body weight human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD DMD-related muscular dystrophy mondo_mondo_0700285_medgen_cn379372 MONDO:MONDO:0700285,MedGen:CN379372 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Color vision defect human_phenotype_ontology_hp_0000551_medgen_c0234629 Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Abnormal muscle fiber dystrophin expression human_phenotype_ontology_hp_0030096_medgen_c4022648 Human_Phenotype_Ontology:HP:0030096,MedGen:C4022648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMBX1 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMBX1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMBX1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMBX1 Hypermetropia human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMBX1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMBX1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMAP1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMAP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMAP1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMAC2L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX3 Peripheral pulmonary artery stenosis human_phenotype_ontology_hp_0004957_human_phenotype_ontology_hp_0004969_medgen_c0345030 Human_Phenotype_Ontology:HP:0004957,Human_Phenotype_Ontology:HP:0004969,MedGen:C0345030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX3 DLX3-related disorder dlx3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLX3 Amelogenesis imperfecta human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL3 Rib fusion human_phenotype_ontology_hp_0000880_human_phenotype_ontology_hp_0000902_medgen_c0265695 Human_Phenotype_Ontology:HP:0000880,Human_Phenotype_Ontology:HP:0000902,MedGen:C0265695 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL3 Leukodystrophy and acquired microcephaly with or without dystonia mondo_mondo_0014766_medgen_c4225213_omim_616763 MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL3 Hemivertebrae human_phenotype_ontology_hp_0002937_medgen_c0265677 Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL3 DLL3-related disorder dll3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLK1 Central precocious puberty mondo_mondo_0019165_medgen_c0342543_omim_ps176400_orphanet_650063 MONDO:MONDO:0019165,MedGen:C0342543,OMIM:PS176400,Orphanet:650063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome mondo_mondo_0010802_medgen_c2931296_omim_600001_orphanet_2255 MONDO:MONDO:0010802,MedGen:C2931296,OMIM:600001,Orphanet:2255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 DLG4-related disorder dlg4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Abnormal circulating enzyme concentration human_phenotype_ontology_hp_0011021_medgen_c4023591 Human_Phenotype_Ontology:HP:0011021,MedGen:C4023591 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG3 DLG3-related disorder dlg3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLD Lactic acidosis human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLC1 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLAT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DKC1 Hoyeraal-Hreidarsson syndrome mondo_mondo_0018045_medgen_c1846142_orphanet_3322 MONDO:MONDO:0018045,MedGen:C1846142,Orphanet:3322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DKC1 DKC1-related disorder mondo_mondo_0100152_medgen_cn294808 MONDO:MONDO:0100152,MedGen:CN294808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DKC1 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 mondo_mondo_0958178_medgen_c5829571_omim_301108 MONDO:MONDO:0958178,MedGen:C5829571,OMIM:301108 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIXDC1 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DISP1 Holoprosencephaly 10 mondo_mondo_0976262_medgen_cn379202_omim_621143 MONDO:MONDO:0976262,MedGen:CN379202,OMIM:621143 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIS3L2 Nephroblastoma human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIS3 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIS3 Multiple Myeloma Predisposition multiple_myeloma_predisposition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Wide anterior fontanel human_phenotype_ontology_hp_0000260_medgen_c1866134 Human_Phenotype_Ontology:HP:0000260,MedGen:C1866134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Vaginal hydrocele human_phenotype_ontology_hp_0100673_medgen_cn117565 Human_Phenotype_Ontology:HP:0100673,MedGen:CN117565 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Relative macrocephaly human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A RPL5-related disorder rpl5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Low-set, posteriorly rotated ears human_phenotype_ontology_hp_0000368_medgen_c1857486 Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Lateral ventricle dilatation human_phenotype_ontology_hp_0006796_human_phenotype_ontology_hp_0006945_human_phenotype_ontology_hp_0006956_human_phenotype_ontology_hp_0007173_medgen_c1856409 Human_Phenotype_Ontology:HP:0006796,Human_Phenotype_Ontology:HP:0006945,Human_Phenotype_Ontology:HP:0006956,Human_Phenotype_Ontology:HP:0007173,MedGen:C1856409 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Intracerebral periventricular calcifications human_phenotype_ontology_hp_0007229_medgen_c1837246 Human_Phenotype_Ontology:HP:0007229,MedGen:C1837246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Hypotelorism human_phenotype_ontology_hp_0000601_human_phenotype_ontology_hp_0007877_medgen_c0424711 Human_Phenotype_Ontology:HP:0000601,Human_Phenotype_Ontology:HP:0007877,MedGen:C0424711 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Hepatomegaly human_phenotype_ontology_hp_0001393_human_phenotype_ontology_hp_0001398_human_phenotype_ontology_hp_0002240_medgen_c0019209 Human_Phenotype_Ontology:HP:0001393,Human_Phenotype_Ontology:HP:0001398,Human_Phenotype_Ontology:HP:0002240,MedGen:C0019209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Hemangioma human_phenotype_ontology_hp_0001028_human_phenotype_ontology_hp_0007444_mondo_mondo_0006500_medgen_c0018916 Human_Phenotype_Ontology:HP:0001028,Human_Phenotype_Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Erythroid hypoplasia human_phenotype_ontology_hp_0012133_medgen_c0542035 Human_Phenotype_Ontology:HP:0012133,MedGen:C0542035 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Dry skin human_phenotype_ontology_hp_0000958_medgen_c0151908 Human_Phenotype_Ontology:HP:0000958,MedGen:C0151908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Diamond-Blackfan anemia 1 mondo_mondo_0007110_medgen_c2676137_omim_105650_orphanet_124 MONDO:MONDO:0007110,MedGen:C2676137,OMIM:105650,Orphanet:124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Aplastic anemia human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Aplasia of the ovary human_phenotype_ontology_hp_0010463_medgen_c0266368 Human_Phenotype_Ontology:HP:0010463,MedGen:C0266368 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Abnormal pinna morphology human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIP2C Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIP2C DIP2C-related neurodevelopmental disorder dip2c_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Vertebral anomalies and variable endocrine and T-cell dysfunction mondo_mondo_0032607_medgen_c4748741_omim_618223 MONDO:MONDO:0032607,MedGen:C4748741,OMIM:618223 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Supratentorial primitive neuroectodermal tumor mondo_mondo_0003145_medgen_c1336538 MONDO:MONDO:0003145,MedGen:C1336538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence DICER1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH3 Autosomal dominant auditory neuropathy 1 mondo_mondo_0012196_medgen_c1836743_omim_609129_orphanet_90635 MONDO:MONDO:0012196,MedGen:C1836743,OMIM:609129,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Pendred syndrome mondo_mondo_0010134_medgen_c0271829_omim_274600_orphanet_705 MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Auditory neuropathy spectrum disorder medgen_c2732267 MedGen:C2732267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX9 DHX9-related neurodevelopmental disorder dhx9_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX9 DHX9-related disorder dhx9_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX9 DHX9-associated neurodevelopmental disorder dhx9_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX9 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX8 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX38 Retinitis pigmentosa 84 mondo_mondo_0032604_medgen_c4748725_omim_618220 MONDO:MONDO:0032604,MedGen:C4748725,OMIM:618220 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX38 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX38 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Coloboma of optic nerve human_phenotype_ontology_hp_0000588_human_phenotype_ontology_hp_0007997_mondo_mondo_0007354_medgen_c0155299_omim_120430_orphanet_35737_orphanet_98947 Human_Phenotype_Ontology:HP:0000588,Human_Phenotype_Ontology:HP:0007997,MONDO:MONDO:0007354,MedGen:C0155299,OMIM:120430,Orphanet:35737,Orphanet:98947 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Chorioretinal lacunae human_phenotype_ontology_hp_0007786_human_phenotype_ontology_hp_0007858_medgen_c1844751 Human_Phenotype_Ontology:HP:0007786,Human_Phenotype_Ontology:HP:0007858,MedGen:C1844751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Choreoathetosis human_phenotype_ontology_hp_0001266_human_phenotype_ontology_hp_0002469_human_phenotype_ontology_hp_0006811_human_phenotype_ontology_hp_0007028_human_phenotype_ontology_hp_0007337_medgen_c0085583 Human_Phenotype_Ontology:HP:0001266,Human_Phenotype_Ontology:HP:0002469,Human_Phenotype_Ontology:HP:0006811,Human_Phenotype_Ontology:HP:0007028,Human_Phenotype_Ontology:HP:0007337,MedGen:C0085583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Cerebellar dysplasia human_phenotype_ontology_hp_0006893_human_phenotype_ontology_hp_0007033_medgen_c3278322 Human_Phenotype_Ontology:HP:0006893,Human_Phenotype_Ontology:HP:0007033,MedGen:C3278322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Abnormality of neuronal migration human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX37 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Unilateral renal agenesis human_phenotype_ontology_hp_0000122_mondo_mondo_0019636_medgen_c0266294_orphanet_93100 Human_Phenotype_Ontology:HP:0000122,MONDO:MONDO:0019636,MedGen:C0266294,Orphanet:93100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Reduced renal corticomedullary differentiation human_phenotype_ontology_hp_0005565_human_phenotype_ontology_hp_0005573_medgen_c3807131 Human_Phenotype_Ontology:HP:0005565,Human_Phenotype_Ontology:HP:0005573,MedGen:C3807131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Postaxial polydactyly human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX34 Emphysema human_phenotype_ontology_hp_0002097_human_phenotype_ontology_hp_0006534_mondo_mondo_0004849_medgen_c0034067 Human_Phenotype_Ontology:HP:0002097,Human_Phenotype_Ontology:HP:0006534,MONDO:MONDO:0004849,MedGen:C0034067 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Unsteady gait human_phenotype_ontology_hp_0002317_medgen_c0231686 Human_Phenotype_Ontology:HP:0002317,MedGen:C0231686 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Sleep disturbance human_phenotype_ontology_hp_0002360_medgen_c0037317 Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Oculomotor apraxia human_phenotype_ontology_hp_0000628_human_phenotype_ontology_hp_0000657_human_phenotype_ontology_hp_0007764_medgen_c3489733 Human_Phenotype_Ontology:HP:0000628,Human_Phenotype_Ontology:HP:0000657,Human_Phenotype_Ontology:HP:0007764,MedGen:C3489733 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Hirsutism human_phenotype_ontology_hp_0001007_medgen_c0019572 Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Axial hypotonia human_phenotype_ontology_hp_0002320_human_phenotype_ontology_hp_0008936_medgen_c1853743 Human_Phenotype_Ontology:HP:0002320,Human_Phenotype_Ontology:HP:0008936,MedGen:C1853743 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Autism, susceptiblity to mondo_mondo_0020836_medgen_cn301178_omim_ps209850 MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX30 Abnormal cerebral white matter morphology human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Reduced renal corticomedullary differentiation human_phenotype_ontology_hp_0005565_human_phenotype_ontology_hp_0005573_medgen_c3807131 Human_Phenotype_Ontology:HP:0005565,Human_Phenotype_Ontology:HP:0005573,MedGen:C3807131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Periventricular heterotopia human_phenotype_ontology_hp_0002272_human_phenotype_ontology_hp_0007165_medgen_c5399973 Human_Phenotype_Ontology:HP:0002272,Human_Phenotype_Ontology:HP:0007165,MedGen:C5399973 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Multiple renal cysts human_phenotype_ontology_hp_0005562_medgen_c0431718 Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Enlarged kidney human_phenotype_ontology_hp_0000105_medgen_c0542518 Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHX16 Chorioretinal lacunae human_phenotype_ontology_hp_0007786_human_phenotype_ontology_hp_0007858_medgen_c1844751 Human_Phenotype_Ontology:HP:0007786,Human_Phenotype_Ontology:HP:0007858,MedGen:C1844751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHRSX Congenital disorder of glycosylation, type 1DD mondo_mondo_0975846_medgen_c5974887_omim_301133 MONDO:MONDO:0975846,MedGen:C5974887,OMIM:301133 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHRS3 Craniosynostosis-scoliosis syndrome mondo_mondo_0980974_medgen_cn380869_omim_621499 MONDO:MONDO:0980974,MedGen:CN380869,OMIM:621499 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHODH DHODH-related disorder dhodh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHH DHH-related disorder dhh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHDDS Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHDDS DHDDS-related disorder dhdds_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR24 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR24 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGUOK Portal hypertension human_phenotype_ontology_hp_0001409_mondo_mondo_0005080_mesh_d006975_medgen_c0020541 Human_Phenotype_Ontology:HP:0001409,MONDO:MONDO:0005080,MeSH:D006975,MedGen:C0020541 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKZ atypical cerebral palsy atypical_cerebral_palsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKH Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKG Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE Hemolytic-uremic syndrome human_phenotype_ontology_hp_0005575_mondo_mondo_0001549_medgen_c0019061_orphanet_544458 Human_Phenotype_Ontology:HP:0005575,MONDO:MONDO:0001549,MedGen:C0019061,Orphanet:544458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE Hemolytic uremic syndrome, atypical, susceptibility to, 1 mondo_mondo_0009335_medgen_c2749604_omim_235400_orphanet_2134_orphanet_90038 MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE DGKE-related disorder dgke_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGAT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Progressive familial heart block mondo_mondo_0019490_medgen_cn230454_omim_ps113900_orphanet_871 MONDO:MONDO:0019490,MedGen:CN230454,OMIM:PS113900,Orphanet:871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Dilated cardiomyopathy 1S mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES DES-related desminopathy des_related_desminopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES DES-related cardiomyopathy des_related_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Bradycardia human_phenotype_ontology_hp_0001662_medgen_c0428977 Human_Phenotype_Ontology:HP:0001662,MedGen:C0428977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 SUDDEN INFANT DEATH SYNDROME efo_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Genetic developmental and epileptic encephalopathy mondo_mondo_0100062_medgen_cn379639_omim_ps308350 MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Developmental and epileptic encephalopathy 111 mondo_mondo_0957780_medgen_c5882690_omim_620504 MONDO:MONDO:0957780,MedGen:C5882690,OMIM:620504 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Cortical dysplasia human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND5B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND5B DENND5B-related neurodevelopmental disorder dennd5b_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND5A Bilateral frontoparietal polymicrogyria mondo_mondo_0011738_medgen_c1847352_omim_606854_orphanet_101070 MONDO:MONDO:0011738,MedGen:C1847352,OMIM:606854,Orphanet:101070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND4B Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND4A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DENND3 Hirschsprung disease, susceptibility to, 1 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEGS1 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 Autism, susceptiblity to mondo_mondo_0020836_medgen_cn301178_omim_ps209850 MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX54 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 Inherited acute myeloid leukemia mondo_mondo_0017893_medgen_c4707228_orphanet_319465 MONDO:MONDO:0017893,MedGen:C4707228,Orphanet:319465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 Focal segmental glomerulosclerosis 9 mondo_mondo_0014539_medgen_c4015555_omim_616220_orphanet_656 MONDO:MONDO:0014539,MedGen:C4015555,OMIM:616220,Orphanet:656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 Bone marrow hypocellularity human_phenotype_ontology_hp_0005528_human_phenotype_ontology_hp_0005529_human_phenotype_ontology_hp_0100549_medgen_c1855710 Human_Phenotype_Ontology:HP:0005528,Human_Phenotype_Ontology:HP:0005529,Human_Phenotype_Ontology:HP:0100549,MedGen:C1855710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Syndromic X-linked intellectual disability Claes-Jensen type mondo_mondo_0010355_medgen_c1845243_omim_300534_orphanet_85279 MONDO:MONDO:0010355,MedGen:C1845243,OMIM:300534,Orphanet:85279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X DDX3X-related X-linked intellectual disability ddx3x_related_x_linked_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X DDX3X-Related Neurodevelopmental Disorder ddx3x_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX39A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX25 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX25 Hydrolethalus syndrome 1 mondo_mondo_0009365_medgen_c1856016_omim_236680_orphanet_2189 MONDO:MONDO:0009365,MedGen:C1856016,OMIM:236680,Orphanet:2189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX25 Hydrolethalus syndrome mondo_mondo_0006037_medgen_c2931104_omim_ps236680_orphanet_2189 MONDO:MONDO:0006037,MedGen:C2931104,OMIM:PS236680,Orphanet:2189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX25 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX23 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX23 Congenital bilateral perisylvian syndrome human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX17 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX11 DDX11-related condition ddx11_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDR2 Warburg-cinotti syndrome mondo_mondo_0032579_medgen_c5193019_omim_618175 MONDO:MONDO:0032579,MedGen:C5193019,OMIM:618175 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDR2 Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD2 Senior-Loken syndrome 6 mondo_mondo_0012433_medgen_c1857779_omim_610189_orphanet_3156 MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD2 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD2 Generalized epilepsy mondo_mondo_0100574_medgen_c0014548 MONDO:MONDO:0100574,MedGen:C0014548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDC RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDB1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDB1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCXR Essential pentosuria mondo_mondo_0009846_medgen_c0268162_omim_260800_orphanet_2843 MONDO:MONDO:0009846,MedGen:C0268162,OMIM:260800,Orphanet:2843 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCXR DCXR-related disorder dcxr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Subcortical band heterotopia human_phenotype_ontology_hp_0032409_mondo_mondo_0020491_medgen_c1848201_orphanet_99796 Human_Phenotype_Ontology:HP:0032409,MONDO:MONDO:0020491,MedGen:C1848201,Orphanet:99796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Fucosidosis mondo_mondo_0009254_medgen_c0016788_omim_230000_orphanet_349 MONDO:MONDO:0009254,MedGen:C0016788,OMIM:230000,Orphanet:349 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX DCX-related disorder dcx_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Pancreatic cancer, susceptibility to, 3 mondo_mondo_0013236_medgen_c3150547_omim_613348_orphanet_1333 MONDO:MONDO:0013236,MedGen:C3150547,OMIM:613348,Orphanet:1333 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 PALB2-related disorder palb2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Inherited prostate cancer inherited_prostate_cancer . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Inherited ovarian cancer (without breast cancer) inherited_ovarian_cancer_without_breast_cancer . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Inherited breast cancer and ovarian cancer inherited_breast_cancer_and_ovarian_cancer . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Fanconi anemia complementation group N mondo_mondo_0012565_medgen_c1835817_omim_610832_orphanet_84 MONDO:MONDO:0012565,MedGen:C1835817,OMIM:610832,Orphanet:84 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Breast-ovarian cancer, familial, susceptibility to, 5 mondo_mondo_0957530_medgen_c5830615_omim_620442 MONDO:MONDO:0957530,MedGen:C5830615,OMIM:620442 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN5 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCTN1 DCTN1-related disorder dctn1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCT condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCPS condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C Severe combined immunodeficiency, partial medgen_c1865373 MedGen:C1865373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C Ehlers-Danlos syndrome, kyphoscoliotic type 1 mondo_mondo_0016002_medgen_c0268342_omim_225400_orphanet_1900 MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C Aicardi-Goutieres syndrome 1 mondo_mondo_0009165_medgen_c0796126_omim_225750_orphanet_51 MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1B Hereditary spastic paraplegia 47 mondo_mondo_0013551_medgen_c3279738_omim_614066_orphanet_280763 MONDO:MONDO:0013551,MedGen:C3279738,OMIM:614066,Orphanet:280763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCHS1 DCHS1-Related Disorders dchs1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC2 Nonsyndromic Deafness mesh_c580334_medgen_c3711374 MeSH:C580334,MedGen:C3711374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC2 Dyslexia, susceptibility to, 2 mondo_mondo_0010843_medgen_c1838436_omim_600202 MONDO:MONDO:0010843,MedGen:C1838436,OMIM:600202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC2 Chylomicron retention disease mondo_mondo_0009528_medgen_c0795956_omim_246700_orphanet_71 MONDO:MONDO:0009528,MedGen:C0795956,OMIM:246700,Orphanet:71 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC1 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Partial agenesis of the corpus callosum human_phenotype_ontology_hp_0001338_human_phenotype_ontology_hp_0006982_human_phenotype_ontology_hp_0007090_human_phenotype_ontology_hp_0007128_medgen_c0431368 Human_Phenotype_Ontology:HP:0001338,Human_Phenotype_Ontology:HP:0006982,Human_Phenotype_Ontology:HP:0007090,Human_Phenotype_Ontology:HP:0007128,MedGen:C0431368 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Mirror movements 1 and/or agenesis of the corpus callosum mondo_mondo_0100515_medgen_cn322311 MONDO:MONDO:0100515,MedGen:CN322311 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Esophageal carcinoma, somatic medgen_c4015970 MedGen:C4015970 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF8 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF8 Giant axonal neuropathy 2 mondo_mondo_0012411_medgen_c1864695_omim_610100_orphanet_401964 MONDO:MONDO:0012411,MedGen:C1864695,OMIM:610100,Orphanet:401964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF6 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF6 Familial idiopathic hypercalciuria mondo_mondo_0007748_medgen_c0342639_omim_143870 MONDO:MONDO:0007748,MedGen:C0342639,OMIM:143870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF6 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF6 ADCY10-related disorder adcy10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF17 DCAF17-related disorder dcaf17_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF12L1 Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBR1 Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 mondo_mondo_0030334_medgen_c5561941_omim_619441 MONDO:MONDO:0030334,MedGen:C5561941,OMIM:619441 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBNL Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBNL PGAM2-related disorder pgam2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBH condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 DARS2-related disorder dars2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAP3 DAP3-related disorder dap3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAND5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAND5 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAGLA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAGLA Autosomal dominant cerebellar ataxia mondo_mondo_0020380_medgen_c4087347_omim_ps164400_orphanet_99 MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAG1 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAG1 DAG1-related disorder dag1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DACT1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DACT1 DACT1-related neural tube defects dact1_related_neural_tube_defects . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence DAB1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence D2HGDH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence D2HGDH D2HGDH-related disorder d2hgdh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYS1 Autosomal recessive polycystic kidney disease mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP51A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4V2 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4V2 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4V2 Choroideremia human_phenotype_ontology_hp_0001139_mondo_mondo_0010557_medgen_c0008525_omim_303100_orphanet_180 Human_Phenotype_Ontology:HP:0001139,MONDO:MONDO:0010557,MedGen:C0008525,OMIM:303100,Orphanet:180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4F22 CYP4F22-related disorder cyp4f22_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP3A4 Vitamin D-dependent rickets, type 3 mondo_mondo_0033640_medgen_c5436733_omim_619073 MONDO:MONDO:0033640,MedGen:C5436733,OMIM:619073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP3A4 Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Neurodegeneration human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Lower limb spasticity human_phenotype_ontology_hp_0002061_medgen_c1271100 Human_Phenotype_Ontology:HP:0002061,MedGen:C1271100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2R1 Vitamin D-dependent rickets, type 1 mondo_mondo_0009924_medgen_c0268689_orphanet_289157 MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2R1 Hypophosphataemia or rickets hypophosphataemia_or_rickets . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2C9 Warfarin response mondo_mondo_0007390_medgen_c0750384_omim_122700 MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2C8 DRUG METABOLISM, ALTERED, CYP2C8-RELATED medgen_c4693948_omim_618018 MedGen:C4693948,OMIM:618018 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27A1 Senior-Loken syndrome 1 mondo_mondo_0009962_medgen_c4551559_omim_266900_orphanet_3156 MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphanet:3156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP26C1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP24A1 Renal tubulopathies renal_tubulopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP24A1 Muscle spasm human_phenotype_ontology_hp_0003394_human_phenotype_ontology_hp_0009018_medgen_c0037763 Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency medgen_c1859995 MedGen:C1859995 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 Congenital lipoid adrenal hyperplasia due to STAR deficency mondo_mondo_0008725_medgen_c0342474_omim_201710_orphanet_418_orphanet_90790 MONDO:MONDO:0008725,MedGen:C0342474,OMIM:201710,Orphanet:418,Orphanet:90790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 Carcinoma, adrenocortical, androgen-secreting medgen_c1859998 MedGen:C1859998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 Adenoma, cortisol-producing medgen_c3151153 MedGen:C3151153 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Glaucoma of childhood human_phenotype_ontology_hp_0001087_mondo_mondo_0020367_medgen_c2981140_orphanet_98977 Human_Phenotype_Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Cataract 17 multiple types mondo_mondo_0012688_medgen_c3888124_omim_611544_orphanet_91492 MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP19A1 Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 Breast cancer, susceptibility to medgen_c3469522 MedGen:C3469522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B2 Familial hypoaldosteronism mondo_mondo_0018541_medgen_c4275180_orphanet_427 MONDO:MONDO:0018541,MedGen:C4275180,Orphanet:427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B2 Aldosterone Synthase Deficiency medgen_c4289986 MedGen:C4289986 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11A1 Wilson disease mondo_mondo_0010200_medgen_c0019202_omim_277900_orphanet_905 MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11A1 Congenital adrenal hyperplasia human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11A1 Congenital Adrenal Insufficiency medgen_c3502131 MedGen:C3502131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11A1 CYP11A1-related disorder cyp11a1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD SLC35A2-congenital disorder of glycosylation mondo_mondo_0010478_medgen_c3806688_omim_300896_orphanet_356961 MONDO:MONDO:0010478,MedGen:C3806688,OMIM:300896,Orphanet:356961 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYFIP2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYFIP2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYFIP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYFIP2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYFIP2 CYFIP2-related disorder cyfip2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYFIP2 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYCS condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYCS CYCS-related disorder cycs_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYC1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBC1 Granulomatous disease, chronic, autosomal recessive, 5 mondo_mondo_0030066_medgen_c5394542_omim_618935 MONDO:MONDO:0030066,MedGen:C5394542,OMIM:618935 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBA Polyglandular autoimmune syndrome, type 1 mondo_mondo_0009411_medgen_c0085859_omim_240300_orphanet_3453 MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB5R3 Central core myopathy mondo_mondo_0007294_medgen_c5830701_omim_117000_orphanet_597 MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYB561D2 Cerebellar atrophy with seizures and variable developmental delay mondo_mondo_0032788_medgen_c5193132_omim_618501 MONDO:MONDO:0032788,MedGen:C5193132,OMIM:618501 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CXORF65 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CXORF65 X-linked severe combined immunodeficiency mondo_mondo_0010315_medgen_c1279481_omim_300400_orphanet_276 MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CXCR4 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CWF19L1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CWF19L1 CWF19L1-related disorder cwf19l1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUX2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL7 Yakut short stature syndrome mondo_mondo_0800412_medgen_cn043155 MONDO:MONDO:0800412,MedGen:CN043155 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL7 CUL7-related disorder cul7_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B CUL4B-related disorder cul4b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B CUL4B-related X-linked intellectual disability cul4b_related_x_linked_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES neurodevelopmental_disorder_with_autism_without_seizures . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES neurodevelopmental_disorder_with_autism_and_seizures . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Autosomal dominant pseudohypoaldosteronism type 1 mondo_mondo_0008329_medgen_c1449842_omim_177735_orphanet_171871_orphanet_756 MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL2 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN Proteinuria human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTU2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTU2 CTU2-related disorder ctu2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Thoracic scoliosis human_phenotype_ontology_hp_0002943_human_phenotype_ontology_hp_0004615_medgen_c1857790 Human_Phenotype_Ontology:HP:0002943,Human_Phenotype_Ontology:HP:0004615,MedGen:C1857790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Short phalanx of finger human_phenotype_ontology_hp_0001168_human_phenotype_ontology_hp_0005771_human_phenotype_ontology_hp_0006087_human_phenotype_ontology_hp_0006126_human_phenotype_ontology_hp_0009803_medgen_c0877165 Human_Phenotype_Ontology:HP:0001168,Human_Phenotype_Ontology:HP:0005771,Human_Phenotype_Ontology:HP:0006087,Human_Phenotype_Ontology:HP:0006126,Human_Phenotype_Ontology:HP:0009803,MedGen:C0877165 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Short finger human_phenotype_ontology_hp_0004098_human_phenotype_ontology_hp_0006015_human_phenotype_ontology_hp_0009381_medgen_c1844548 Human_Phenotype_Ontology:HP:0004098,Human_Phenotype_Ontology:HP:0006015,Human_Phenotype_Ontology:HP:0009381,MedGen:C1844548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Periodontitis human_phenotype_ontology_hp_0000165_human_phenotype_ontology_hp_0000704_human_phenotype_ontology_hp_0006301_mondo_mondo_0005076_medgen_c0031099 Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Obtuse angle of mandible human_phenotype_ontology_hp_0005446_medgen_c4038738 Human_Phenotype_Ontology:HP:0005446,MedGen:C4038738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Nail dysplasia human_phenotype_ontology_hp_0001793_human_phenotype_ontology_hp_0001794_human_phenotype_ontology_hp_0001797_human_phenotype_ontology_hp_0002164_human_phenotype_ontology_hp_0008387_human_phenotype_ontology_hp_0008403_human_phenotype_ontology_hp_0008409_human_phenotype_ontology_hp_0008412_medgen_c1834405 Human_Phenotype_Ontology:HP:0001793,Human_Phenotype_Ontology:HP:0001794,Human_Phenotype_Ontology:HP:0001797,Human_Phenotype_Ontology:HP:0002164,Human_Phenotype_Ontology:HP:0008387,Human_Phenotype_Ontology:HP:0008403,Human_Phenotype_Ontology:HP:0008409,Human_Phenotype_Ontology:HP:0008412,MedGen:C1834405 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Midface retrusion human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Increased susceptibility to fractures human_phenotype_ontology_hp_0002659_human_phenotype_ontology_hp_0002662_human_phenotype_ontology_hp_0002798_human_phenotype_ontology_hp_0005710_human_phenotype_ontology_hp_0005783_human_phenotype_ontology_hp_0005931_medgen_c1390474 Human_Phenotype_Ontology:HP:0002659,Human_Phenotype_Ontology:HP:0002662,Human_Phenotype_Ontology:HP:0002798,Human_Phenotype_Ontology:HP:0005710,Human_Phenotype_Ontology:HP:0005783,Human_Phenotype_Ontology:HP:0005931,MedGen:C1390474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Enamel hypoplasia human_phenotype_ontology_hp_0000671_human_phenotype_ontology_hp_0001565_human_phenotype_ontology_hp_0003770_human_phenotype_ontology_hp_0006297_mondo_mondo_0004038_medgen_c0011351 Human_Phenotype_Ontology:HP:0000671,Human_Phenotype_Ontology:HP:0001565,Human_Phenotype_Ontology:HP:0003770,Human_Phenotype_Ontology:HP:0006297,MONDO:MONDO:0004038,MedGen:C0011351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Dental crowding human_phenotype_ontology_hp_0000678_medgen_c0040433 Human_Phenotype_Ontology:HP:0000678,MedGen:C0040433 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Delayed cranial suture closure human_phenotype_ontology_hp_0000270_human_phenotype_ontology_hp_0002704_human_phenotype_ontology_hp_0003794_medgen_c0277828 Human_Phenotype_Ontology:HP:0000270,Human_Phenotype_Ontology:HP:0002704,Human_Phenotype_Ontology:HP:0003794,MedGen:C0277828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Delayed closure of the anterior fontanelle human_phenotype_ontology_hp_0001476_medgen_c3840083 Human_Phenotype_Ontology:HP:0001476,MedGen:C3840083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Abnormal skull morphology human_phenotype_ontology_hp_0000929_medgen_c0235942 Human_Phenotype_Ontology:HP:0000929,MedGen:C0235942 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Abnormal cranial suture/fontanelle morphology human_phenotype_ontology_hp_0000235_medgen_c4025876 Human_Phenotype_Ontology:HP:0000235,MedGen:C4025876 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSF Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSF CTSF-related disorder ctsf_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSD Severe microlissencephaly severe_microlissencephaly . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSD Multiple epiphyseal dysplasia, Al-Gazali type mondo_mondo_0011778_medgen_c1846722_omim_607131_orphanet_166024 MONDO:MONDO:0011778,MedGen:C1846722,OMIM:607131,Orphanet:166024 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSD Exaggerated startle response human_phenotype_ontology_hp_0002267_medgen_c1740801 Human_Phenotype_Ontology:HP:0002267,MedGen:C1740801 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA GALACTOSIALIDOSIS, EARLY INFANTILE medgen_c4017294 MedGen:C4017294 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA GALACTOSIALIDOSIS, ADULT medgen_c4017293 MedGen:C4017293 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTRC Pancreatitis, chronic, susceptibility to medgen_c1969419 MedGen:C1969419 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTRC Chronic pancreatitis human_phenotype_ontology_hp_0006280_mondo_mondo_0005003_medgen_c0149521 Human_Phenotype_Ontology:HP:0006280,MONDO:MONDO:0005003,MedGen:C0149521 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTR9 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTPS1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTPS1 Combined immunodeficiency due to CTPS1 deficiency mondo_mondo_0014391_medgen_c4014617_omim_615897_orphanet_420573 MONDO:MONDO:0014391,MedGen:C4014617,OMIM:615897,Orphanet:420573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNND1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Teratoma human_phenotype_ontology_hp_0009792_mondo_mondo_0002601_medgen_c0039538 Human_Phenotype_Ontology:HP:0009792,MONDO:MONDO:0002601,MedGen:C0039538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Microcephalic primordial dwarfism, Alazami type mondo_mondo_0014031_medgen_c3554439_omim_615071_orphanet_319671 MONDO:MONDO:0014031,MedGen:C3554439,OMIM:615071,Orphanet:319671 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Imperforate anus human_phenotype_ontology_hp_0001550_human_phenotype_ontology_hp_0002023_mondo_mondo_0001046_medgen_c0003466_omim_207500_omim_301800_orphanet_557 Human_Phenotype_Ontology:HP:0001550,Human_Phenotype_Ontology:HP:0002023,MONDO:MONDO:0001046,MedGen:C0003466,OMIM:207500,OMIM:301800,Orphanet:557 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Gallbladder cancer mondo_mondo_0005411_medgen_c0153452 MONDO:MONDO:0005411,MedGen:C0153452 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Desmoid tumor caused by somatic mutation mondo_mondo_0100168_medgen_c2675440 MONDO:MONDO:0100168,MedGen:C2675440 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Desmoid tumor human_phenotype_ontology_hp_6001034_mondo_mondo_0007608_medgen_c0079218_orphanet_873 Human_Phenotype_Ontology:HP:6001034,MONDO:MONDO:0007608,MedGen:C0079218,Orphanet:873 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Conspicuously happy disposition human_phenotype_ontology_hp_0100024_medgen_c4021029 Human_Phenotype_Ontology:HP:0100024,MedGen:C4021029 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 CTNNB1-related syndromic intellectual disability ctnnb1_related_syndromic_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Atypical endometrial hyperplasia mondo_mondo_0006096_medgen_c0349579 MONDO:MONDO:0006096,MedGen:C0349579 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Adrenal cortex neoplasm human_phenotype_ontology_hp_0100641_mondo_mondo_0036591_medgen_c0001618 Human_Phenotype_Ontology:HP:0100641,MONDO:MONDO:0036591,MedGen:C0001618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity abnormal_lung_growth_pulmonary_hypertension_microcephaly_and_spasticity . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA3 Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA3 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA3 Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA2 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA2 CTNNA2-related disorder ctnna2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 CTNNA1-related diffuse gastric and lobular breast cancer syndrome mondo_mondo_0100256_medgen_cn324029 MONDO:MONDO:0100256,MedGen:CN324029 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 CTNNA1-associated FEVR ctnna1_associated_fevr . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 Immunodeficiency, common variable, 1 mondo_mondo_0011864_medgen_c3149378_omim_607594_orphanet_1572_orphanet_695183 MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594,Orphanet:1572,Orphanet:695183 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 CTLA4 Haploinsufficiency ctla4_haploinsufficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTHRC1 BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA medgen_c3277074 MedGen:C3277074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTH condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTDP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTDP1 Congenital cataracts-facial dysmorphism-neuropathy syndrome mondo_mondo_0011402_medgen_c1858726_omim_604168_orphanet_48431 MONDO:MONDO:0011402,MedGen:C1858726,OMIM:604168,Orphanet:48431 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTDP1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTCF Desmoplastic/nodular medulloblastoma mondo_mondo_0016711_medgen_c0751291_orphanet_251863 MONDO:MONDO:0016711,MedGen:C0751291,Orphanet:251863 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTCF CTCF-related syndromic intellectual disability ctcf_related_syndromic_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTBP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTBP1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTBP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTBP1 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome mondo_mondo_0060666_medgen_c4693578_omim_617915 MONDO:MONDO:0060666,MedGen:C4693578,OMIM:617915 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CT55 Spermatogenic failure, X-linked, 7 mondo_mondo_0957202_medgen_c5829567_omim_301106 MONDO:MONDO:0957202,MedGen:C5829567,OMIM:301106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTF2 Intellectual developmental disorder, X-linked 113 mondo_mondo_0958200_medgen_c5882666_omim_301116 MONDO:MONDO:0958200,MedGen:C5882666,OMIM:301116 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Self-limited epilepsy with centrotemporal spikes mondo_mondo_0007295_medgen_c0376532_orphanet_1945 MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Progressive microcephaly human_phenotype_ontology_hp_0000253_medgen_c1850456 Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Global brain atrophy human_phenotype_ontology_hp_0002283_human_phenotype_ontology_hp_0002369_human_phenotype_ontology_hp_0002462_medgen_c0241816 Human_Phenotype_Ontology:HP:0002283,Human_Phenotype_Ontology:HP:0002369,Human_Phenotype_Ontology:HP:0002462,MedGen:C0241816 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Chorea human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Cerebral dysmyelination human_phenotype_ontology_hp_0007134_human_phenotype_ontology_hp_0007217_human_phenotype_ontology_hp_0007266_medgen_c1854885 Human_Phenotype_Ontology:HP:0007134,Human_Phenotype_Ontology:HP:0007217,Human_Phenotype_Ontology:HP:0007266,MedGen:C1854885 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTB Aplasia/Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0007003_human_phenotype_ontology_hp_0007060_human_phenotype_ontology_hp_0007061_human_phenotype_ontology_hp_0007137_human_phenotype_ontology_hp_0007370_medgen_c1861866 Human_Phenotype_Ontology:HP:0007003,Human_Phenotype_Ontology:HP:0007060,Human_Phenotype_Ontology:HP:0007061,Human_Phenotype_Ontology:HP:0007137,Human_Phenotype_Ontology:HP:0007370,MedGen:C1861866 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSTA CSTA-related disorder csta_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CST6 Ectodermal dysplasia 15, hypohidrotic/hair type mondo_mondo_0032804_medgen_c5193145_omim_618535 MONDO:MONDO:0032804,MedGen:C5193145,OMIM:618535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CST3 Hereditary cerebral amyloid angiopathy, Icelandic type mondo_mondo_0007098_medgen_c1527338_omim_105150_orphanet_100008_orphanet_85458 MONDO:MONDO:0007098,MedGen:C1527338,OMIM:105150,Orphanet:100008,Orphanet:85458 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSRP3 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSRP3 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSPP1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSPP1 Dandy-Walker malformation human_phenotype_ontology_hp_0001305_human_phenotype_ontology_hp_0001313_human_phenotype_ontology_hp_0006809_medgen_c2931867 Human_Phenotype_Ontology:HP:0001305,Human_Phenotype_Ontology:HP:0001313,Human_Phenotype_Ontology:HP:0006809,MedGen:C2931867 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Underdeveloped nasal alae human_phenotype_ontology_hp_0000430_human_phenotype_ontology_hp_0004497_human_phenotype_ontology_hp_0004507_human_phenotype_ontology_hp_0005276_human_phenotype_ontology_hp_0005277_human_phenotype_ontology_hp_0005286_medgen_c1834055 Human_Phenotype_Ontology:HP:0000430,Human_Phenotype_Ontology:HP:0004497,Human_Phenotype_Ontology:HP:0004507,Human_Phenotype_Ontology:HP:0005276,Human_Phenotype_Ontology:HP:0005277,Human_Phenotype_Ontology:HP:0005286,MedGen:C1834055 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Toe clinodactyly human_phenotype_ontology_hp_0001863_medgen_c4021770 Human_Phenotype_Ontology:HP:0001863,MedGen:C4021770 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Thin upper lip vermilion human_phenotype_ontology_hp_0000219_human_phenotype_ontology_hp_0200062_human_phenotype_ontology_hp_0200086_medgen_c1865017 Human_Phenotype_Ontology:HP:0000219,Human_Phenotype_Ontology:HP:0200062,Human_Phenotype_Ontology:HP:0200086,MedGen:C1865017 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Tapered finger human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Syndactyly human_phenotype_ontology_hp_0001159_human_phenotype_ontology_hp_0001206_human_phenotype_ontology_hp_0001236_mondo_mondo_0021002_medgen_c0039075 Human_Phenotype_Ontology:HP:0001159,Human_Phenotype_Ontology:HP:0001206,Human_Phenotype_Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Pointed chin human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Mandibular prognathia human_phenotype_ontology_hp_0000251_human_phenotype_ontology_hp_0000279_human_phenotype_ontology_hp_0000303_human_phenotype_ontology_hp_0000328_human_phenotype_ontology_hp_0002051_human_phenotype_ontology_hp_0004648_human_phenotype_ontology_hp_0004656_human_phenotype_ontology_hp_0008514_mondo_mondo_0008312_mesh_d008313_medgen_c0399526_omim_176700_orphanet_2964 Human_Phenotype_Ontology:HP:0000251,Human_Phenotype_Ontology:HP:0000279,Human_Phenotype_Ontology:HP:0000303,Human_Phenotype_Ontology:HP:0000328,Human_Phenotype_Ontology:HP:0002051,Human_Phenotype_Ontology:HP:0004648,Human_Phenotype_Ontology:HP:0004656,Human_Phenotype_Ontology:HP:0008514,MONDO:MONDO:0008312,MeSH:D008313,MedGen:C0399526,OMIM:176700,Orphanet:2964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Intellectual disability-craniodigital syndrome intellectual_disability_craniodigital_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Intellectual disability and seizures intellectual_disability_and_seizures MedGen:CN231403 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Deeply set eye human_phenotype_ontology_hp_0000490_human_phenotype_ontology_hp_0000663_mondo_mondo_0001210_medgen_c0423224 Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B CSNK2B-related intellectual disability with or without epilepsy csnk2b_related_intellectual_disability_with_or_without_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Asymmetry of the ears human_phenotype_ontology_hp_0010722_medgen_c1168239 Human_Phenotype_Ontology:HP:0010722,MedGen:C1168239 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2A1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2A1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2A1 CSNK2A1-related neurodevelopmental syndrome csnk2a1_related_neurodevelopmental_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK1G1 CSNK1G1-related developmental disorder with autism spectrum disorder csnk1g1_related_developmental_disorder_with_autism_spectrum_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK1E Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSMD1 CSMD1-related disorder csmd1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSMD1 CSMD1-associated neurodevelopmental disorder csmd1_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF3R Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF3R Early T cell progenitor acute lymphoblastic leukemia mondo_mondo_0100291_medgen_c4329780 MONDO:MONDO:0100291,MedGen:C4329780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF3R CSF3R-Related Disorders csf3r_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF2RB Surfactant metabolism dysfunction, pulmonary, 5 mondo_mondo_0013712_medgen_c3280574_omim_614370_orphanet_264675 MONDO:MONDO:0013712,MedGen:C3280574,OMIM:614370,Orphanet:264675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF1R CSF1R-related leukoencephalopathy csf1r_related_leukoencephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSDE1 CSDE1-related neurodevelopmental disorder csde1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGS Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGS Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGD Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGC Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGC Cataract 2, Coppock-like medgen_c4015995 MedGen:C4015995 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYGB Cataract 39 multiple types mondo_mondo_0014075_medgen_c3808800_omim_615188_orphanet_91492 MONDO:MONDO:0014075,MedGen:C3808800,OMIM:615188,Orphanet:91492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB3 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB3 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB2 CRYBB2-related disorder crybb2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB1 Early-onset non-syndromic cataract human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB1 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBB1 Cataract 17 cataract_17 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA4 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA4 Cataract 17 cataract_17 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYBA1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAB Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAB Cardiomyopathy, familial restrictive, 1 mondo_mondo_0007270_medgen_c1861861_omim_115210_orphanet_75249 MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAB CRYAB-related disorder cryab_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAA Cataract 9, autosomal recessive medgen_c4015984 MedGen:C4015984 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRYAA Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX maculopathy maculopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Autosomal dominant retinitis pigmentosa medgen_c0339525 MedGen:C0339525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRPPA Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 mondo_mondo_0013904_medgen_c3553813_omim_614830_orphanet_899 MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRPPA Muscular dystrophy-dystroglycanopathy mondo_mondo_0018276_medgen_c5679911_orphanet_370953 MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRPPA ISPD-related disorder ispd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRPPA Congenital muscular dystrophy due to integrin alpha-7 deficiency mondo_mondo_0013177_medgen_c2750786_omim_613204_orphanet_34520 MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRPPA CRPPA-related disorder crppa_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRMP1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRLF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRLF1 Crisponi/Cold-induced sweating syndrome crisponi_cold_induced_sweating_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRLF1 Cone-rod dystrophy 12 mondo_mondo_0012983_medgen_c2675210_omim_612657_orphanet_1872 MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRLF1 CRLF1-related disorder crlf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRELD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBL2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Thin vermilion border human_phenotype_ontology_hp_0000213_human_phenotype_ontology_hp_0000233_medgen_c0578038 Human_Phenotype_Ontology:HP:0000213,Human_Phenotype_Ontology:HP:0000233,MedGen:C0578038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Synophrys human_phenotype_ontology_hp_0000664_human_phenotype_ontology_hp_0002210_medgen_c0431447 Human_Phenotype_Ontology:HP:0000664,Human_Phenotype_Ontology:HP:0002210,MedGen:C0431447 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Spinal dysraphism human_phenotype_ontology_hp_0010301_medgen_c0344479 Human_Phenotype_Ontology:HP:0010301,MedGen:C0344479 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Morphological central nervous system abnormality human_phenotype_ontology_hp_0002011_human_phenotype_ontology_hp_0002405_human_phenotype_ontology_hp_0002413_human_phenotype_ontology_hp_0002481_human_phenotype_ontology_hp_0007319_mondo_mondo_0002602_medgen_c4021765 Human_Phenotype_Ontology:HP:0002011,Human_Phenotype_Ontology:HP:0002405,Human_Phenotype_Ontology:HP:0002413,Human_Phenotype_Ontology:HP:0002481,Human_Phenotype_Ontology:HP:0007319,MONDO:MONDO:0002602,MedGen:C4021765 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Menke-Hennekam syndrome mondo_mondo_0020774_medgen_c5681632_omim_ps618332_orphanet_592574 MONDO:MONDO:0020774,MedGen:C5681632,OMIM:PS618332,Orphanet:592574 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Kabuki-like syndrome kabuki_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Glaucoma human_phenotype_ontology_hp_0000501_mondo_mondo_0005041_medgen_c0017601 Human_Phenotype_Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Congenital heart anomalies congenital_heart_anomalies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREB3L1 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREB3 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CREB3 Hereditary spastic paraplegia 46 mondo_mondo_0013737_medgen_c2828721_omim_614409_orphanet_320391 MONDO:MONDO:0013737,MedGen:C2828721,OMIM:614409,Orphanet:320391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRBN Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB2 Familial idiopathic steroid-resistant nephrotic syndrome mondo_mondo_0019006_medgen_c4273714_orphanet_656 MONDO:MONDO:0019006,MedGen:C4273714,Orphanet:656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB2 Autosomal recessive CRB2-related disorders autosomal_recessive_crb2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Severe early-childhood-onset retinal dystrophy mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Retinitis pigmentosa-deafness syndrome mondo_mondo_0010775_medgen_c5779620_omim_500004 MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Autosomal recessive CRB1-related disorders autosomal_recessive_crb1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRADD Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRADD Familial isolated arrhythmogenic right ventricular dysplasia mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CR2 Immunodeficiency, common variable, 2 mondo_mondo_0009413_medgen_c3150354_omim_240500_orphanet_1572 MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CR2 Autosomal recessive CR2-related disorders autosomal_recessive_cr2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPZ Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Autosomal recessive CPT2-related disorders autosomal_recessive_cpt2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT1C condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT1A CPT1A POLYMORPHISM cpt1a_polymorphism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT1A CPT1A ARCTIC VARIANT cpt1a_arctic_variant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPSF3 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures mondo_mondo_0030025_medgen_c5394312_omim_618862 MONDO:MONDO:0030025,MedGen:C5394312,OMIM:618862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPSF3 HP:0001252; HP:0001776; HP:0000252; HP:0001270; HP:0000592 hp_0001252_hp_0001776_hp_0000252_hp_0001270_hp_0000592 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPS1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPOX COPROPORPHYRIA, DIGENIC medgen_c4017281 MedGen:C4017281 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLX1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Typical Joubert syndrome MRI findings typical_joubert_syndrome_mri_findings MedGen:CN228298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPE Early onset severe obesity medgen_c4013980 MedGen:C4013980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPE Blakemore-Durmaz-Vasileiou (BDV) syndrome blakemore_durmaz_vasileiou_bdv_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Seckel syndrome 5 mondo_mondo_0013443_medgen_c3151187_omim_613823_orphanet_808 MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP CENPJ-related disorder cenpj_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Autosomal recessive primary microcephaly mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Arthrogryposis, renal dysfunction, and cholestasis 1 mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAMD8 Glaucoma 3A mondo_mondo_0009277_medgen_c1856439_omim_231300_orphanet_98976_orphanet_98977 MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAMD8 Abnormal anterior eye segment morphology human_phenotype_ontology_hp_0004328_medgen_c4025355 Human_Phenotype_Ontology:HP:0004328,MedGen:C4025355 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPA6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPA6 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPA6 Febrile seizures, familial, 11 mondo_mondo_0024566_medgen_c3280734_omim_614418 MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPA6 CPA6-related disorder cpa6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COXFA4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX8A Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX7B condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX6B1 Mitochondrial complex IV deficiency, nuclear type 7 mondo_mondo_0033637_medgen_c5436685_omim_619051 MONDO:MONDO:0033637,MedGen:C5436685,OMIM:619051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX6A2 Mitochondrial complex IV deficiency, nuclear type 18 mondo_mondo_0033653_medgen_c5436720_omim_619062 MONDO:MONDO:0033653,MedGen:C5436720,OMIM:619062 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX6A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX6A1 Charcot-Marie-Tooth disease recessive intermediate D mondo_mondo_0014467_medgen_c5569027_omim_616039_orphanet_435998 MONDO:MONDO:0014467,MedGen:C5569027,OMIM:616039,Orphanet:435998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX4I1 Mitochondrial complex IV deficiency, nuclear type 16 mondo_mondo_0033651_medgen_c5436714_omim_619060 MONDO:MONDO:0033651,MedGen:C5436714,OMIM:619060 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX4I1 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX20 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX20 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX20 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX20 COX20-related disorder cox20_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX16 Mitochondrial complex IV deficiency, nuclear type 22 mondo_mondo_0859160_medgen_c5543491_omim_619355 MONDO:MONDO:0859160,MedGen:C5543491,OMIM:619355 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX15 COX15-related disorder cox15_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX14 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX14 Mitochondrial complex IV deficiency, nuclear type 10 mondo_mondo_0033639_medgen_c5436692_omim_619053 MONDO:MONDO:0033639,MedGen:C5436692,OMIM:619053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COX10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORO1A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORO1A Sinoatrial node disorder mondo_mondo_0000469_medgen_c0428908 MONDO:MONDO:0000469,MedGen:C0428908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORO1A Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORIN Myocardial fibrosis human_phenotype_ontology_hp_0001685_medgen_c0151654 Human_Phenotype_Ontology:HP:0001685,MedGen:C0151654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORIN Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORIN Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CORIN Atrial fibrillation efo_the_experimental_factor_ontology_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 EFO:_The_Experimental_Factor_Ontology:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Slurred speech human_phenotype_ontology_hp_0001350_medgen_c0234518 Human_Phenotype_Ontology:HP:0001350,MedGen:C0234518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Slightly reduced reflexes slightly_reduced_reflexes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Dysmetria human_phenotype_ontology_hp_0001310_medgen_c0234162 Human_Phenotype_Ontology:HP:0001310,MedGen:C0234162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Dysdiadochokinesis human_phenotype_ontology_hp_0002075_human_phenotype_ontology_hp_0002426_medgen_c0234979 Human_Phenotype_Ontology:HP:0002075,Human_Phenotype_Ontology:HP:0002426,MedGen:C0234979 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ4 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ2 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ2 Neonatal encephalopathy medgen_c0235820 MedGen:C0235820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ2 Multiple system atrophy mondo_mondo_0007803_medgen_c0393571_orphanet_102 MONDO:MONDO:0007803,MedGen:C0393571,Orphanet:102 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ2 COQ2-related disorder coq2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Immunodeficiency human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COPB1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMT Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP Pseudoachondroplasia, severe pseudoachondroplasia_severe . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLQ Slow-Channel Congenital Myasthenia Syndrome medgen_c0751885_orphanet_590 MedGen:C0751885,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLQ COLQ-related disorder colq_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLGALT1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLGALT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLEC11 3MC syndrome mondo_mondo_0017398_medgen_c4303860_omim_ps257920_orphanet_293843 MONDO:MONDO:0017398,MedGen:C4303860,OMIM:PS257920,Orphanet:293843 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLEC10 COLEC10-related disorder colec10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Retinal detachment human_phenotype_ontology_hp_0000541_human_phenotype_ontology_hp_0007864_human_phenotype_ontology_hp_0008021_mondo_mondo_0008375_medgen_c0035305_omim_180050 Human_Phenotype_Ontology:HP:0000541,Human_Phenotype_Ontology:HP:0007864,Human_Phenotype_Ontology:HP:0008021,MONDO:MONDO:0008375,MedGen:C0035305,OMIM:180050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Lattice retinal degeneration human_phenotype_ontology_hp_0007992_mondo_mondo_0001455_medgen_c0154856 Human_Phenotype_Ontology:HP:0007992,MONDO:MONDO:0001455,MedGen:C0154856 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Intervertebral disc disorder mondo_mondo_0044339_medgen_c0158252_omim_603932 MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Epiphyseal dysplasia, multiple, 3, with myopathy medgen_c3152083 MedGen:C3152083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A3 Autosomal recessive Stickler syndrome medgen_c5439212_orphanet_250984 MedGen:C5439212,Orphanet:250984 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 Stickler syndrome mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A2 Epiphyseal dysplasia human_phenotype_ontology_hp_0002656_medgen_c0392476 Human_Phenotype_Ontology:HP:0002656,MedGen:C0392476 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A1 Stickler syndrome mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A1 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL9A1 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Qualitative or quantitative defects of collagen 6 medgen_c5680804_orphanet_207090 MedGen:C5680804,Orphanet:207090 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Proximal muscle weakness human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Limb-girdle muscle weakness human_phenotype_ontology_hp_0003325_human_phenotype_ontology_hp_0008971_medgen_c1858127 Human_Phenotype_Ontology:HP:0003325,Human_Phenotype_Ontology:HP:0008971,MedGen:C1858127 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Hyperextensible hand joints human_phenotype_ontology_hp_0005639_medgen_c1856877 Human_Phenotype_Ontology:HP:0005639,MedGen:C1856877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Hip flexor weakness human_phenotype_ontology_hp_0012515_medgen_c3279725 Human_Phenotype_Ontology:HP:0012515,MedGen:C3279725 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Fatigue human_phenotype_ontology_hp_0012378_medgen_c0015672 Human_Phenotype_Ontology:HP:0012378,MedGen:C0015672 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Falls human_phenotype_ontology_hp_0002527_medgen_c0085639 Human_Phenotype_Ontology:HP:0002527,MedGen:C0085639 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Congenital hip dislocation human_phenotype_ontology_hp_0001374_medgen_c0019555 Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 COL6A2-related core myopathy col6a2_related_core_myopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Sensorimotor neuropathy human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Proximal muscle weakness human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Other rare neuromuscular disorders other_rare_neuromuscular_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Bethlem myopathy 1B mondo_mondo_0958233_medgen_c5935580_omim_620725 MONDO:MONDO:0958233,MedGen:C5935580,OMIM:620725 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Telecanthus human_phenotype_ontology_hp_0000506_mondo_mondo_0008537_medgen_c0423113_omim_187350_orphanet_98575 Human_Phenotype_Ontology:HP:0000506,MONDO:MONDO:0008537,MedGen:C0423113,OMIM:187350,Orphanet:98575 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Neuropathic spinal arthropathy human_phenotype_ontology_hp_0008443_medgen_c5702564 Human_Phenotype_Ontology:HP:0008443,MedGen:C5702564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Keratoconus human_phenotype_ontology_hp_0000563_mondo_mondo_0015486_mesh_d007640_medgen_c0022578_omim_ps148300 Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Hyperextensible skin human_phenotype_ontology_hp_0000974_human_phenotype_ontology_hp_0007389_human_phenotype_ontology_hp_0007493_human_phenotype_ontology_hp_0007578_medgen_c0241074 Human_Phenotype_Ontology:HP:0000974,Human_Phenotype_Ontology:HP:0007389,Human_Phenotype_Ontology:HP:0007493,Human_Phenotype_Ontology:HP:0007578,MedGen:C0241074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Pneumothorax human_phenotype_ontology_hp_0002107_mondo_mondo_0002076_medgen_c0032326 Human_Phenotype_Ontology:HP:0002107,MONDO:MONDO:0002076,MedGen:C0032326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Patellar dislocation human_phenotype_ontology_hp_0002999_medgen_c1135812 Human_Phenotype_Ontology:HP:0002999,MedGen:C1135812 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Pain human_phenotype_ontology_hp_0012531_medgen_c0030193 Human_Phenotype_Ontology:HP:0012531,MedGen:C0030193 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Mitral valve prolapse human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Large joint dislocations human_phenotype_ontology_hp_0005008_medgen_c4025260 Human_Phenotype_Ontology:HP:0005008,MedGen:C4025260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Joint hyperflexibility human_phenotype_ontology_hp_0005692_medgen_c1862377 Human_Phenotype_Ontology:HP:0005692,MedGen:C1862377 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Inguinal hernia human_phenotype_ontology_hp_0000023_medgen_c0019294 Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Gastroesophageal reflux human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Edema of the dorsum of feet human_phenotype_ontology_hp_0012098_medgen_c2919341 Human_Phenotype_Ontology:HP:0012098,MedGen:C2919341 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Difficulty walking human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Constrictive median neuropathy human_phenotype_ontology_hp_0012185_medgen_c4023009 Human_Phenotype_Ontology:HP:0012185,MedGen:C4023009 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Congenital hip dislocation human_phenotype_ontology_hp_0001374_medgen_c0019555 Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Clubfoot human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Cigarette-paper scars human_phenotype_ontology_hp_0001073_medgen_c1851828 Human_Phenotype_Ontology:HP:0001073,MedGen:C1851828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 COL5A1-related disorders col5a1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Bilateral talipes equinovarus human_phenotype_ontology_hp_0001776_medgen_c1837835 Human_Phenotype_Ontology:HP:0001776,MedGen:C1837835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Abnormally lax or hyperextensible skin human_phenotype_ontology_hp_0008067_medgen_c4024736 Human_Phenotype_Ontology:HP:0008067,MedGen:C4024736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A6 COL4A6-related disorder col4a6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Mild proteinuria human_phenotype_ontology_hp_0012595_medgen_c4022832 Human_Phenotype_Ontology:HP:0012595,MedGen:C4022832 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Kidney damage medgen_c1408258 MedGen:C1408258 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Isolated macular dystrophy mondo_mondo_0957048_medgen_c5681367_orphanet_519302 MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Hypertensive disorder human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Glomerulopathy human_phenotype_ontology_hp_0008636_human_phenotype_ontology_hp_0100820_mondo_mondo_0019722_medgen_c0268731_orphanet_93548 Human_Phenotype_Ontology:HP:0008636,Human_Phenotype_Ontology:HP:0100820,MONDO:MONDO:0019722,MedGen:C0268731,Orphanet:93548 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Familial hematuria medgen_c1305904 MedGen:C1305904 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Elevated mean arterial pressure human_phenotype_ontology_hp_0004972_medgen_c1840376 Human_Phenotype_Ontology:HP:0004972,MedGen:C1840376 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Alport syndrome 1 alport_syndrome_1 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Meniere disease mondo_mondo_0007972_medgen_c0025281_omim_156000 MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Kidney damage medgen_c1408258 MedGen:C1408258 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Glomerulonephritis human_phenotype_ontology_hp_0000099_mondo_mondo_0002462_medgen_c0017658 Human_Phenotype_Ontology:HP:0000099,MONDO:MONDO:0002462,MedGen:C0017658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Diffuse mesangial sclerosis human_phenotype_ontology_hp_0001967_human_phenotype_ontology_hp_0004728_medgen_c0268747 Human_Phenotype_Ontology:HP:0001967,Human_Phenotype_Ontology:HP:0004728,MedGen:C0268747 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Autosomal dominant COL4A4-related disorders autosomal_dominant_col4a4_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Alport syndrome 3b, autosomal recessive mondo_mondo_0957811_medgen_c5882699_omim_620536 MONDO:MONDO:0957811,MedGen:C5882699,OMIM:620536 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Proteinuria human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Pilarowski-Bjornsson syndrome mondo_mondo_0060568_medgen_c4540131_omim_617682_orphanet_529965 MONDO:MONDO:0060568,MedGen:C4540131,OMIM:617682,Orphanet:529965 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Moderate albuminuria human_phenotype_ontology_hp_0012594_medgen_c1654921 Human_Phenotype_Ontology:HP:0012594,MedGen:C1654921 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Macroscopic hematuria human_phenotype_ontology_hp_0012587_medgen_c0473237 Human_Phenotype_Ontology:HP:0012587,MedGen:C0473237 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Hereditary hearing loss and deafness medgen_c0236038 MedGen:C0236038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 Intraventricular hemorrhage human_phenotype_ontology_hp_0030746_medgen_c0240059 Human_Phenotype_Ontology:HP:0030746,MedGen:C0240059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 Brain small vessel disease 2B, autosomal recessive mondo_mondo_0980747_medgen_cn380402_omim_621414 MONDO:MONDO:0980747,MedGen:CN380402,OMIM:621414 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Retinal arteries retinal_arteries . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Porencephaly mondo_mondo_0017410_medgen_c4082173_orphanet_2940 MONDO:MONDO:0017410,MedGen:C4082173,Orphanet:2940 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Optic nerve hypoplasia human_phenotype_ontology_hp_0000609_human_phenotype_ontology_hp_0007273_medgen_c0338502 Human_Phenotype_Ontology:HP:0000609,Human_Phenotype_Ontology:HP:0007273,MedGen:C0338502 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Metabolic disease mondo_mondo_0005066_medgen_c0025517 MONDO:MONDO:0005066,MedGen:C0025517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Keratoconus human_phenotype_ontology_hp_0000563_mondo_mondo_0015486_mesh_d007640_medgen_c0022578_omim_ps148300 Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Irido-corneo-trabecular dysgenesis human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Intraventricular hemorrhage human_phenotype_ontology_hp_0030746_medgen_c0240059 Human_Phenotype_Ontology:HP:0030746,MedGen:C0240059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Intracranial hemorrhage human_phenotype_ontology_hp_0002170_medgen_c0151699 Human_Phenotype_Ontology:HP:0002170,MedGen:C0151699 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Colpocephaly human_phenotype_ontology_hp_0030048_mondo_mondo_0022236_medgen_c0431384 Human_Phenotype_Ontology:HP:0030048,MONDO:MONDO:0022236,MedGen:C0431384 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Cerebral calcification human_phenotype_ontology_hp_0002502_human_phenotype_ontology_hp_0002514_human_phenotype_ontology_hp_0005806_human_phenotype_ontology_hp_0006848_medgen_c0270685 Human_Phenotype_Ontology:HP:0002502,Human_Phenotype_Ontology:HP:0002514,Human_Phenotype_Ontology:HP:0005806,Human_Phenotype_Ontology:HP:0006848,MedGen:C0270685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Actin accumulation myopathy mondo_mondo_0008070_medgen_c3711389_omim_161800_orphanet_98904 MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Abnormal corpus callosum morphology human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Abnormal cerebral cortex morphology human_phenotype_ontology_hp_0002538_medgen_c4025701 Human_Phenotype_Ontology:HP:0002538,MedGen:C4025701 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME polymicrogyria_without_vascular_type_ehlers_danlos_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Ehlers-Danlos syndrome, type 3 mondo_mondo_0007523_medgen_c0268337_omim_130020_orphanet_285 MONDO:MONDO:0007523,MedGen:C0268337,OMIM:130020,Orphanet:285 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Ehlers-Danlos syndrome, dominant type 4 mondo_mondo_0007524_medgen_c0268339 MONDO:MONDO:0007524,MedGen:C0268339 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT ehlers_danlos_syndrome_nonvascular_variant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Connective tissue nevi human_phenotype_ontology_hp_0100898_medgen_c0334083 Human_Phenotype_Ontology:HP:0100898,MedGen:C0334083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Connective and Soft Tissue Disorder medgen_c1333150 MedGen:C1333150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Congenital aneurysm of ascending aorta mondo_mondo_0024559_medgen_c0345050_omim_607086_orphanet_229 MONDO:MONDO:0024559,MedGen:C0345050,OMIM:607086,Orphanet:229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Short ribs human_phenotype_ontology_hp_0000773_human_phenotype_ontology_hp_0000899_human_phenotype_ontology_hp_0000908_human_phenotype_ontology_hp_0009750_medgen_c0426817 Human_Phenotype_Ontology:HP:0000773,Human_Phenotype_Ontology:HP:0000899,Human_Phenotype_Ontology:HP:0000908,Human_Phenotype_Ontology:HP:0009750,MedGen:C0426817 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Retinal detachment human_phenotype_ontology_hp_0000541_human_phenotype_ontology_hp_0007864_human_phenotype_ontology_hp_0008021_mondo_mondo_0008375_medgen_c0035305_omim_180050 Human_Phenotype_Ontology:HP:0000541,Human_Phenotype_Ontology:HP:0007864,Human_Phenotype_Ontology:HP:0008021,MONDO:MONDO:0008375,MedGen:C0035305,OMIM:180050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Otospondylomegaepiphyseal dysplasia, autosomal recessive mondo_mondo_0044206_medgen_cn034493_omim_215150_orphanet_1427 MONDO:MONDO:0044206,MedGen:CN034493,OMIM:215150,Orphanet:1427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Narrow chest human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Multiple epiphyseal dysplasia human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Maffucci syndrome mondo_mondo_0013808_medgen_c0024454_omim_614569_orphanet_163634 MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 MASS syndrome mondo_mondo_0011431_medgen_c1858556_omim_604308 MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 KBG syndrome mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Hypoplastic acetabulae human_phenotype_ontology_hp_0003274_medgen_c1846442 Human_Phenotype_Ontology:HP:0003274,MedGen:C1846442 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Disproportionate short-limb short stature human_phenotype_ontology_hp_0001523_human_phenotype_ontology_hp_0003505_human_phenotype_ontology_hp_0003509_human_phenotype_ontology_hp_0008858_human_phenotype_ontology_hp_0008869_human_phenotype_ontology_hp_0008873_human_phenotype_ontology_hp_0008875_human_phenotype_ontology_hp_0008880_human_phenotype_ontology_hp_0008881_human_phenotype_ontology_hp_0008889_human_phenotype_ontology_hp_0008912_human_phenotype_ontology_hp_0008914_human_phenotype_ontology_hp_0008928_medgen_c1849937 Human_Phenotype_Ontology:HP:0001523,Human_Phenotype_Ontology:HP:0003505,Human_Phenotype_Ontology:HP:0003509,Human_Phenotype_Ontology:HP:0008858,Human_Phenotype_Ontology:HP:0008869,Human_Phenotype_Ontology:HP:0008873,Human_Phenotype_Ontology:HP:0008875,Human_Phenotype_Ontology:HP:0008880,Human_Phenotype_Ontology:HP:0008881,Human_Phenotype_Ontology:HP:0008889,Human_Phenotype_Ontology:HP:0008912,Human_Phenotype_Ontology:HP:0008914,Human_Phenotype_Ontology:HP:0008928,MedGen:C1849937 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Developmental dysplasia of the hip human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 COL2A1-related phenotype col2a1_related_phenotype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Autosomal dominant COL2A1-related disorders autosomal_dominant_col2a1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Acetabular dysplasia human_phenotype_ontology_hp_0008799_human_phenotype_ontology_hp_0008807_medgen_c1328407 Human_Phenotype_Ontology:HP:0008799,Human_Phenotype_Ontology:HP:0008807,MedGen:C1328407 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Absent vertebral body mineralization human_phenotype_ontology_hp_0004605_medgen_c1860191 Human_Phenotype_Ontology:HP:0004605,MedGen:C1860191 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL25A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL25A1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL25A1 Arthrogryposis mondo_mondo_0008779_medgen_c0003886 MONDO:MONDO:0008779,MedGen:C0003886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Short fetal femur length human_phenotype_ontology_hp_0011428_medgen_c0743924 Human_Phenotype_Ontology:HP:0011428,MedGen:C0743924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Osteogenesis imperfecta, mild medgen_c4015953 MedGen:C4015953 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Multiple prenatal fractures human_phenotype_ontology_hp_0002811_human_phenotype_ontology_hp_0005761_human_phenotype_ontology_hp_0005855_medgen_c1853171 Human_Phenotype_Ontology:HP:0002811,Human_Phenotype_Ontology:HP:0005761,Human_Phenotype_Ontology:HP:0005855,MedGen:C1853171 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Increased susceptibility to fractures human_phenotype_ontology_hp_0002659_human_phenotype_ontology_hp_0002662_human_phenotype_ontology_hp_0002798_human_phenotype_ontology_hp_0005710_human_phenotype_ontology_hp_0005783_human_phenotype_ontology_hp_0005931_medgen_c1390474 Human_Phenotype_Ontology:HP:0002659,Human_Phenotype_Ontology:HP:0002662,Human_Phenotype_Ontology:HP:0002798,Human_Phenotype_Ontology:HP:0005710,Human_Phenotype_Ontology:HP:0005783,Human_Phenotype_Ontology:HP:0005931,MedGen:C1390474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Collagen type 1 disorder collagen_type_1_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 COL1A2-related osteogenesis imperfecta mondo_mondo_0100596_medgen_cn379211 MONDO:MONDO:0100596,MedGen:CN379211 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Bruck syndrome 1 mondo_mondo_0009806_medgen_c1850168_omim_259450_orphanet_1149_orphanet_2771 MONDO:MONDO:0009806,MedGen:C1850168,OMIM:259450,Orphanet:1149,Orphanet:2771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Wiedemann-Rautenstrauch-like progeroid syndrome wiedemann_rautenstrauch_like_progeroid_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Wide cranial sutures human_phenotype_ontology_hp_0010537_medgen_c0410935 Human_Phenotype_Ontology:HP:0010537,MedGen:C0410935 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Wide anterior fontanel human_phenotype_ontology_hp_0000260_medgen_c1866134 Human_Phenotype_Ontology:HP:0000260,MedGen:C1866134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Triangular face human_phenotype_ontology_hp_0000325_human_phenotype_ontology_hp_0004645_human_phenotype_ontology_hp_0004662_human_phenotype_ontology_hp_0004668_medgen_c1835884 Human_Phenotype_Ontology:HP:0000325,Human_Phenotype_Ontology:HP:0004645,Human_Phenotype_Ontology:HP:0004662,Human_Phenotype_Ontology:HP:0004668,MedGen:C1835884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Rhizomelia human_phenotype_ontology_hp_0002968_human_phenotype_ontology_hp_0003520_human_phenotype_ontology_hp_0008852_human_phenotype_ontology_hp_0008877_human_phenotype_ontology_hp_0008905_medgen_c1866730 Human_Phenotype_Ontology:HP:0002968,Human_Phenotype_Ontology:HP:0003520,Human_Phenotype_Ontology:HP:0008852,Human_Phenotype_Ontology:HP:0008877,Human_Phenotype_Ontology:HP:0008905,MedGen:C1866730 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Reduced bone mineral density human_phenotype_ontology_hp_0004349_medgen_c2674432 Human_Phenotype_Ontology:HP:0004349,MedGen:C2674432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Recurrent long bone fractures human_phenotype_ontology_hp_0003084_human_phenotype_ontology_hp_0005847_medgen_c0240231 Human_Phenotype_Ontology:HP:0003084,Human_Phenotype_Ontology:HP:0005847,MedGen:C0240231 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Premature birth human_phenotype_ontology_hp_0001622_medgen_c0151526 Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Phenylketonuria mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Pathologic fracture human_phenotype_ontology_hp_0002756_human_phenotype_ontology_hp_0005633_medgen_c0016663 Human_Phenotype_Ontology:HP:0002756,Human_Phenotype_Ontology:HP:0005633,MedGen:C0016663 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteogenesis imperfecta, type III/IV medgen_c4015948 MedGen:C4015948 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteogenesis imperfecta type 2, thin-bone osteogenesis_imperfecta_type_2_thin_bone MedGen:CN071440 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 OSTEOGENESIS IMPERFECTA, TYPE IIC medgen_c4015949 MedGen:C4015949 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Neonatal short-limb short stature human_phenotype_ontology_hp_0001536_human_phenotype_ontology_hp_0008894_human_phenotype_ontology_hp_0008902_human_phenotype_ontology_hp_0008921_human_phenotype_ontology_hp_0008924_medgen_c1850171 Human_Phenotype_Ontology:HP:0001536,Human_Phenotype_Ontology:HP:0008894,Human_Phenotype_Ontology:HP:0008902,Human_Phenotype_Ontology:HP:0008921,Human_Phenotype_Ontology:HP:0008924,MedGen:C1850171 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Neonatal asphyxia human_phenotype_ontology_hp_0012768_mondo_mondo_0006663_medgen_c0004045_orphanet_137577 Human_Phenotype_Ontology:HP:0012768,MONDO:MONDO:0006663,MedGen:C0004045,Orphanet:137577 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Multiple epiphyseal dysplasia type 1 mondo_mondo_0007561_medgen_c1838280_omim_132400_orphanet_93308 MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Maternal hypertension human_phenotype_ontology_hp_0008071_medgen_c0565599 Human_Phenotype_Ontology:HP:0008071,MedGen:C0565599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Low-set, posteriorly rotated ears human_phenotype_ontology_hp_0000368_medgen_c1857486 Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Increased susceptibility to fractures human_phenotype_ontology_hp_0002659_human_phenotype_ontology_hp_0002662_human_phenotype_ontology_hp_0002798_human_phenotype_ontology_hp_0005710_human_phenotype_ontology_hp_0005783_human_phenotype_ontology_hp_0005931_medgen_c1390474 Human_Phenotype_Ontology:HP:0002659,Human_Phenotype_Ontology:HP:0002662,Human_Phenotype_Ontology:HP:0002798,Human_Phenotype_Ontology:HP:0005710,Human_Phenotype_Ontology:HP:0005783,Human_Phenotype_Ontology:HP:0005931,MedGen:C1390474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Fragile skin human_phenotype_ontology_hp_0001030_medgen_c0241181 Human_Phenotype_Ontology:HP:0001030,MedGen:C0241181 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Flat occiput human_phenotype_ontology_hp_0000247_human_phenotype_ontology_hp_0000249_human_phenotype_ontology_hp_0005469_medgen_c1837402 Human_Phenotype_Ontology:HP:0000247,Human_Phenotype_Ontology:HP:0000249,Human_Phenotype_Ontology:HP:0005469,MedGen:C1837402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Ehlers-Danlos syndrome, classic type mondo_mondo_0007522_medgen_c4225429_orphanet_287 MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Depressed nasal bridge human_phenotype_ontology_hp_0000425_human_phenotype_ontology_hp_0000428_human_phenotype_ontology_hp_0000439_human_phenotype_ontology_hp_0000459_human_phenotype_ontology_hp_0004413_human_phenotype_ontology_hp_0004505_human_phenotype_ontology_hp_0004506_human_phenotype_ontology_hp_0004666_human_phenotype_ontology_hp_0005119_human_phenotype_ontology_hp_0005280_human_phenotype_ontology_hp_0005284_medgen_c1836542 Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Decreased calvarial ossification human_phenotype_ontology_hp_0002701_human_phenotype_ontology_hp_0002702_human_phenotype_ontology_hp_0005454_human_phenotype_ontology_hp_0005471_human_phenotype_ontology_hp_0005474_medgen_c1833762 Human_Phenotype_Ontology:HP:0002701,Human_Phenotype_Ontology:HP:0002702,Human_Phenotype_Ontology:HP:0005454,Human_Phenotype_Ontology:HP:0005471,Human_Phenotype_Ontology:HP:0005474,MedGen:C1833762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Crumpled long bones human_phenotype_ontology_hp_0006367_medgen_c1970497 Human_Phenotype_Ontology:HP:0006367,MedGen:C1970497 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Craniofacial disproportion human_phenotype_ontology_hp_0005461_medgen_c1867114 Human_Phenotype_Ontology:HP:0005461,MedGen:C1867114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Cranial asymmetry human_phenotype_ontology_hp_0000267_medgen_c1860245 Human_Phenotype_Ontology:HP:0000267,MedGen:C1860245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 COL1A1-related Ehlers-Danlos syndrome mondo_mondo_0100599_medgen_cn379214 MONDO:MONDO:0100599,MedGen:CN379214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Bruising susceptibility human_phenotype_ontology_hp_0000959_human_phenotype_ontology_hp_0000978_human_phenotype_ontology_hp_0007433_human_phenotype_ontology_hp_0007472_medgen_c0423798 Human_Phenotype_Ontology:HP:0000959,Human_Phenotype_Ontology:HP:0000978,Human_Phenotype_Ontology:HP:0007433,Human_Phenotype_Ontology:HP:0007472,MedGen:C0423798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Broad forehead human_phenotype_ontology_hp_0000337_human_phenotype_ontology_hp_0000352_human_phenotype_ontology_hp_0000354_medgen_c1849089 Human_Phenotype_Ontology:HP:0000337,Human_Phenotype_Ontology:HP:0000352,Human_Phenotype_Ontology:HP:0000354,MedGen:C1849089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Bowing of limbs due to multiple fractures human_phenotype_ontology_hp_0003023_medgen_c1850178 Human_Phenotype_Ontology:HP:0003023,MedGen:C1850178 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Anteverted nares human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Abnormal pinna morphology human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Cowden syndrome 1 mondo_mondo_0008021_medgen_cn072330_omim_158350 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Epidermolysis bullosa simplex 1A, generalized severe mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Corneal dystrophy human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Amelogenesis imperfecta - hypoplastic autosomal dominant - local mondo_mondo_0007092_medgen_c0399368_omim_104500_orphanet_88661 MONDO:MONDO:0007092,MedGen:C0399368,OMIM:104500,Orphanet:88661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 Ullrich congenital muscular dystrophy 1A mondo_mondo_0009681_medgen_c0410179_omim_254090_orphanet_75840 MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 Myopathic Ehlers-Danlos syndrome medgen_c5680153 MedGen:C5680153 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 Abnormality of connective tissue human_phenotype_ontology_hp_0003549_medgen_c4025596 Human_Phenotype_Ontology:HP:0003549,MedGen:C4025596 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Oculodentodigital dysplasia, autosomal recessive mondo_mondo_0009768_medgen_c2749477_omim_257850_orphanet_2710 MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850,Orphanet:2710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Nonsyndromic Deafness mesh_c580334_medgen_c3711374 MeSH:C580334,MedGen:C3711374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 sporadic abdominal aortic aneurysm sporadic_abdominal_aortic_aneurysm . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Telecanthus human_phenotype_ontology_hp_0000506_mondo_mondo_0008537_medgen_c0423113_omim_187350_orphanet_98575 Human_Phenotype_Ontology:HP:0000506,MONDO:MONDO:0008537,MedGen:C0423113,OMIM:187350,Orphanet:98575 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Short nose human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Megalocornea human_phenotype_ontology_hp_0000485_human_phenotype_ontology_hp_0007660_mondo_mondo_0009576_medgen_c5574682_omim_249300 Human_Phenotype_Ontology:HP:0000485,Human_Phenotype_Ontology:HP:0007660,MONDO:MONDO:0009576,MedGen:C5574682,OMIM:249300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Marshall/Stickler syndrome medgen_c4015965 MedGen:C4015965 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Hypoplasia of the maxilla human_phenotype_ontology_hp_0000327_human_phenotype_ontology_hp_0004644_medgen_c0240310 Human_Phenotype_Ontology:HP:0000327,Human_Phenotype_Ontology:HP:0004644,MedGen:C0240310 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG6 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG6 Hypohidrosis human_phenotype_ontology_hp_0000966_human_phenotype_ontology_hp_0007551_human_phenotype_ontology_hp_0007571_medgen_c0020620 Human_Phenotype_Ontology:HP:0000966,Human_Phenotype_Ontology:HP:0007551,Human_Phenotype_Ontology:HP:0007571,MedGen:C0020620 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG6 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome mondo_mondo_0014558_medgen_c4225396_omim_616268_orphanet_457193 MONDO:MONDO:0014558,MedGen:C4225396,OMIM:616268,Orphanet:457193 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG5 COG5-related disorder cog5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG4 Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG4 COG4-related disorder cog4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG1 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH Prelingual sensorineural hearing impairment human_phenotype_ontology_hp_0000399_human_phenotype_ontology_hp_0001731_medgen_c4021806 Human_Phenotype_Ontology:HP:0000399,Human_Phenotype_Ontology:HP:0001731,MedGen:C4021806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COCH Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COASY Neurodegeneration with brain iron accumulation 2B mondo_mondo_0012444_medgen_c1857747_omim_610217_orphanet_35069 MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217,Orphanet:35069 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COASY Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COASY COASY-related disorder coasy_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COA8 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence COA5 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 mondo_mondo_0014667_medgen_c4225154_omim_616500_orphanet_1561 MONDO:MONDO:0014667,MedGen:C4225154,OMIM:616500,Orphanet:1561 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP2 Pitt-Hopkins-like syndrome mondo_mondo_0016377_medgen_c4751168 MONDO:MONDO:0016377,MedGen:C4751168 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP1 Congenital hypomyelination neuropathy with or without arthrogryposis congenital_hypomyelination_neuropathy_with_or_without_arthrogryposis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP1 Arthrogryposis, distal, type 1A mondo_mondo_0007157_medgen_c0220662_omim_108120_orphanet_1146 MONDO:MONDO:0007157,MedGen:C0220662,OMIM:108120,Orphanet:1146 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTN6 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTN6 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTN2 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTN1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNPY3 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNPY2 Craniosynostosis syndrome human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNPY2 Abnormality of the face human_phenotype_ontology_hp_0000271_medgen_c4025871 Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNP Leukodystrophy, hypomyelinating, 20 mondo_mondo_0033657_medgen_c5436730_omim_619071 MONDO:MONDO:0033657,MedGen:C5436730,OMIM:619071 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT3 CNOT3-associated disorder cnot3_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT2 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder mondo_mondo_0014379_medgen_c4014538_omim_615873_orphanet_404448 MONDO:MONDO:0014379,MedGen:C4014538,OMIM:615873,Orphanet:404448 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Nuerodevelopment disorder nuerodevelopment_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Holoprosencephaly sequence human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Alopecia-intellectual disability syndrome 4 mondo_mondo_0030009_medgen_c5394241_omim_618840 MONDO:MONDO:0030009,MedGen:C5394241,OMIM:618840 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM4 CNNM4-related disorder cnnm4_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM2 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM2 Hypomagnesemia human_phenotype_ontology_hp_0002917_human_phenotype_ontology_hp_0003284_mondo_mondo_0018100_medgen_c0151723_omim_ps602014 Human_Phenotype_Ontology:HP:0002917,Human_Phenotype_Ontology:HP:0003284,MONDO:MONDO:0018100,MedGen:C0151723,OMIM:PS602014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM2 CNNM2-Related Disorders cnnm2_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNKSR2 X-linked recessive seizure and neurodevelopmental deficit x_linked_recessive_seizure_and_neurodevelopmental_deficit . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNKSR2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNKSR2 CNKSR2-related disorder cnksr2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 CNGB3-related retinopathy mondo_mondo_0100446_medgen_cn305596 MONDO:MONDO:0100446,MedGen:CN305596 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Abnormal electroretinogram human_phenotype_ontology_hp_0000512_human_phenotype_ontology_hp_0003285_medgen_c0476397 Human_Phenotype_Ontology:HP:0000512,Human_Phenotype_Ontology:HP:0003285,MedGen:C0476397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB1 CNGB1-related retinopathy mondo_mondo_0800403_medgen_cn322609 MONDO:MONDO:0800403,MedGen:CN322609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 maculopathy maculopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Photophobia human_phenotype_ontology_hp_0000613_medgen_c0085636 Human_Phenotype_Ontology:HP:0000613,MedGen:C0085636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Macular degeneration human_phenotype_ontology_hp_0000608_human_phenotype_ontology_hp_0007694_mondo_mondo_0003004_medgen_c0024437 Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Color vision defect human_phenotype_ontology_hp_0000551_medgen_c0234629 Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 CNGA3-related retinopathy mondo_mondo_0800102_medgen_cn315672 MONDO:MONDO:0800102,MedGen:CN315672 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 CNGA1-related retinopathy mondo_mondo_0800405_medgen_cn322611 MONDO:MONDO:0800405,MedGen:CN322611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLUAP1 Toriello-Lacassie-Droste syndrome mondo_mondo_0010854_medgen_c1838329_omim_600268_orphanet_3339 MONDO:MONDO:0010854,MedGen:C1838329,OMIM:600268,Orphanet:3339 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLUAP1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Noonan syndrome 3 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 mondo_mondo_8000012_medgen_c4015728_omim_616263_orphanet_456312 MONDO:MONDO:8000012,MedGen:C4015728,OMIM:616263,Orphanet:456312 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC CLTC-related disorder cltc_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Abnormal corpus callosum morphology human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN2 Hearing loss, autosomal recessive 117 mondo_mondo_0030905_medgen_c5436937_omim_619174 MONDO:MONDO:0030905,MedGen:C5436937,OMIM:619174 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPX Protoporphyria, erythropoietic, 2 mondo_mondo_0060729_medgen_c4693947_omim_618015 MONDO:MONDO:0060729,MedGen:C4693947,OMIM:618015 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPP Perrault syndrome 1 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPP Autosomal recessive hearing impairment with normal menstrual cycles autosomal_recessive_hearing_impairment_with_normal_menstrual_cycles . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB Myeloid maturation arrest human_phenotype_ontology_hp_0410253_medgen_c0151787 Human_Phenotype_Ontology:HP:0410253,MedGen:C0151787 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB Microcytic anemia human_phenotype_ontology_hp_0001935_mondo_mondo_0001245_medgen_c5194182 Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB 3-Methylglutaric aciduria human_phenotype_ontology_hp_0003344_medgen_c3151952 Human_Phenotype_Ontology:HP:0003344,MedGen:C3151952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB 3-Methylglutaconic aciduria human_phenotype_ontology_hp_0003535_mondo_mondo_0017359_medgen_c3696376_omim_ps250950_orphanet_289902 Human_Phenotype_Ontology:HP:0003535,MONDO:MONDO:0017359,MedGen:C3696376,OMIM:PS250950,Orphanet:289902 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLP1 Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN8 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN8 CLN8-related disorder cln8_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Cystic fibrosis mondo_mondo_0009061_medgen_c0010674_omim_219700_orphanet_586 MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 CLN6-related disorder cln6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN5 CLN5-related disorder cln5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN5 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 early onset and severe retinal dystrophy early_onset_and_severe_retinal_dystrophy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 CLN3-related disorder cln3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLMP Congenital short bowel syndrome mondo_mondo_0014097_medgen_c5441717_orphanet_2301 MONDO:MONDO:0014097,MedGen:C5441717,Orphanet:2301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLIP1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLIC5 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLIC4 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLHC1 Waddling gait human_phenotype_ontology_hp_0002515_medgen_c0231712 Human_Phenotype_Ontology:HP:0002515,MedGen:C0231712 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLHC1 Marked Hypotonia marked_hypotonia MedGen:CN228301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLGN Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLEC3B Macular dystrophy, retinal, 4 mondo_mondo_0859568_medgen_c5774187_omim_619977 MONDO:MONDO:0859568,MedGen:C5774187,OMIM:619977 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN9 Hearing loss medgen_c3887873 MedGen:C3887873 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN5 Syndromic disease mondo_mondo_0002254_medgen_c0039082 MONDO:MONDO:0002254,MedGen:C0039082 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN5 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN5 CLDN5 deficiency cldn5_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN2 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN2 Azoospermia, obstructive, with nephrolithiasis mondo_mondo_0025356_medgen_c5542351_omim_301060 MONDO:MONDO:0025356,MedGen:C5542351,OMIM:301060 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN19 CLDN19-related disorder cldn19_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN16 Thrombocytopenia 5 mondo_mondo_0014536_medgen_c4015537_omim_616216 MONDO:MONDO:0014536,MedGen:C4015537,OMIM:616216 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN16 Renal hypomagnesemia 5 with ocular involvement mondo_mondo_0009548_medgen_c4721891_omim_248190_orphanet_2196 MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN16 HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING medgen_c3151482 MedGen:C3151482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN14 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Proteinuria human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Hematuria human_phenotype_ontology_hp_0000790_medgen_c0018965 Human_Phenotype_Ontology:HP:0000790,MedGen:C0018965 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Epilepsy, familial focal, with variable foci 1 mondo_mondo_0024556_medgen_c4551983_omim_604364 MONDO:MONDO:0024556,MedGen:C4551983,OMIM:604364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS bartter_syndrome_type_4b_with_sensorineural_deafness . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Autosomal recessive CLCNKB-related disorders autosomal_recessive_clcnkb_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Autosomal dominant osteopetrosis 1 mondo_mondo_0011877_medgen_c1843330_omim_607634_orphanet_2783 MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKA Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKA Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN7 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN6 Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities mondo_mondo_0030947_medgen_c5543020_omim_619173_orphanet_610573 MONDO:MONDO:0030947,MedGen:C5543020,OMIM:619173,Orphanet:610573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Multiple small medullary renal cysts human_phenotype_ontology_hp_0005569_human_phenotype_ontology_hp_0008659_human_phenotype_ontology_hp_0100956_medgen_c4024644 Human_Phenotype_Ontology:HP:0005569,Human_Phenotype_Ontology:HP:0008659,Human_Phenotype_Ontology:HP:0100956,MedGen:C4024644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Low-molecular-weight proteinuria human_phenotype_ontology_hp_0003126_medgen_c1839606 Human_Phenotype_Ontology:HP:0003126,MedGen:C1839606 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Hypophosphataemia, X-linked hypophosphataemia_x_linked . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Hyperkalemia human_phenotype_ontology_hp_0002153_medgen_c0020461 Human_Phenotype_Ontology:HP:0002153,MedGen:C0020461 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Familial X-linked hypophosphatemic vitamin D refractory rickets mondo_mondo_0010619_medgen_c0733682_omim_307800_orphanet_89936 MONDO:MONDO:0010619,MedGen:C0733682,OMIM:307800,Orphanet:89936 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN4 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN3 Neurodevelopmental disorder with seizures and brain abnormalities mondo_mondo_0859188_medgen_c5561979_omim_619517 MONDO:MONDO:0859188,MedGen:C5561979,OMIM:619517 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN3 Autism, susceptiblity to mondo_mondo_0020836_medgen_cn301178_omim_ps209850 MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Skeletal muscle hypertrophy human_phenotype_ontology_hp_0003712_medgen_c2265792 Human_Phenotype_Ontology:HP:0003712,MedGen:C2265792 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Muscle spasm human_phenotype_ontology_hp_0003394_human_phenotype_ontology_hp_0009018_medgen_c0037763 Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Migraine human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Metachromatic leukodystrophy mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Memory impairment human_phenotype_ontology_hp_0000747_human_phenotype_ontology_hp_0002081_human_phenotype_ontology_hp_0002354_medgen_c0233794 Human_Phenotype_Ontology:HP:0000747,Human_Phenotype_Ontology:HP:0002081,Human_Phenotype_Ontology:HP:0002354,MedGen:C0233794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Lumbar hyperlordosis human_phenotype_ontology_hp_0002938_human_phenotype_ontology_hp_0002941_human_phenotype_ontology_hp_0004560_human_phenotype_ontology_hp_0004574_human_phenotype_ontology_hp_0004596_medgen_c1184923 Human_Phenotype_Ontology:HP:0002938,Human_Phenotype_Ontology:HP:0002941,Human_Phenotype_Ontology:HP:0004560,Human_Phenotype_Ontology:HP:0004574,Human_Phenotype_Ontology:HP:0004596,MedGen:C1184923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Limb pain human_phenotype_ontology_hp_0009763_medgen_c0030196 Human_Phenotype_Ontology:HP:0009763,MedGen:C0030196 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Hypoplasia of the maxilla human_phenotype_ontology_hp_0000327_human_phenotype_ontology_hp_0004644_medgen_c0240310 Human_Phenotype_Ontology:HP:0000327,Human_Phenotype_Ontology:HP:0004644,MedGen:C0240310 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Hypokalemic periodic paralysis, type 1 mondo_mondo_0042979_medgen_c3714580_omim_170400_orphanet_681 MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Hyperkalemic periodic paralysis human_phenotype_ontology_hp_0007215_mondo_mondo_0008224_medgen_c0238357_omim_170500_orphanet_682 Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 EMG: neuropathic changes human_phenotype_ontology_hp_0002178_human_phenotype_ontology_hp_0002547_human_phenotype_ontology_hp_0003445_human_phenotype_ontology_hp_0007279_medgen_c4021727 Human_Phenotype_Ontology:HP:0002178,Human_Phenotype_Ontology:HP:0002547,Human_Phenotype_Ontology:HP:0003445,Human_Phenotype_Ontology:HP:0007279,MedGen:C4021727 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 EMG: myotonic runs human_phenotype_ontology_hp_0003730_medgen_c4025576 Human_Phenotype_Ontology:HP:0003730,MedGen:C4025576 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 EMG: myopathic abnormalities human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 CLCN1-related myotonia congenita clcn1_related_myotonia_congenita . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Autosomal dominant intermediate Charcot-Marie-Tooth disease mondo_mondo_0019548_medgen_c5680178_orphanet_90114 MONDO:MONDO:0019548,MedGen:C5680178,Orphanet:90114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Achilles tendon contracture human_phenotype_ontology_hp_0001771_human_phenotype_ontology_hp_0004711_human_phenotype_ontology_hp_0005031_human_phenotype_ontology_hp_0006430_medgen_c0410264 Human_Phenotype_Ontology:HP:0001771,Human_Phenotype_Ontology:HP:0004711,Human_Phenotype_Ontology:HP:0005031,Human_Phenotype_Ontology:HP:0006430,MedGen:C0410264 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCC1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCC1 Retinitis pigmentosa 32 mondo_mondo_0012363_medgen_c1835927_omim_609913_orphanet_791 MONDO:MONDO:0012363,MedGen:C1835927,OMIM:609913,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCC1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLASP1 RNU4ATAC-related spliceosomopathies rnu4atac_related_spliceosomopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CKAP2L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CKAP2L Hypogonadism human_phenotype_ontology_hp_0000135_mondo_mondo_0002146_medgen_c0020619 Human_Phenotype_Ontology:HP:0000135,MONDO:MONDO:0002146,MedGen:C0020619 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CKAP2L CKAP2L-related disorder ckap2l_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Developmental and epileptic encephalopathy, 31B mondo_mondo_0957248_medgen_c5830459_omim_620352 MONDO:MONDO:0957248,MedGen:C5830459,OMIM:620352 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIZ1 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CITED2 Atrial septal defect 8 mondo_mondo_0013750_medgen_c3280790_omim_614433_orphanet_1478 MONDO:MONDO:0013750,MedGen:C3280790,OMIM:614433,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CINP Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CINP Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CINP Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CILK1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CILK1 Short rib-polydactyly syndrome mondo_mondo_0015461_medgen_c0036996_orphanet_1505 MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CILK1 Epilepsy, juvenile myoclonic, susceptibility to, 10 mondo_mondo_0060671_medgen_c4693613_omim_617924 MONDO:MONDO:0060671,MedGen:C4693613,OMIM:617924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CILK1 Cranioectodermal dysplasia 6 mondo_mondo_0979883_medgen_cn379911_omim_621337 MONDO:MONDO:0979883,MedGen:CN379911,OMIM:621337 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CILK1 Cranioectodermal dysplasia mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIDEC CIDEC-related familial partial lipodystrophy mondo_mondo_0014098_medgen_c3808940_omim_615238_orphanet_435651 MONDO:MONDO:0014098,MedGen:C3808940,OMIM:615238,Orphanet:435651 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC Intellectual disability, autosomal dominant 1 mondo_mondo_0007974_medgen_c1969562_omim_156200_orphanet_228402 MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC CIC-related neurodevelopmental disorders cic_related_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC Autosomal dominant non-syndromic intellectual disability mondo_mondo_0015802_medgen_c5680502_orphanet_178469 MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIBAR1 Postaxial polydactyly type A human_phenotype_ontology_hp_0005696_mondo_mondo_0019673_medgen_c3887487_orphanet_93334 Human_Phenotype_Ontology:HP:0005696,MONDO:MONDO:0019673,MedGen:C3887487,Orphanet:93334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIB2 CIB2-related disorder cib2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIAO1 Neuromuscular disease mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHUK Cocoon syndrome mondo_mondo_0013334_medgen_c3150891_omim_613630_orphanet_465824 MONDO:MONDO:0013334,MedGen:C3150891,OMIM:613630,Orphanet:465824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHUK Bartsocas-Papas syndrome 2 mondo_mondo_0859154_medgen_c5543445_omim_619339 MONDO:MONDO:0859154,MedGen:C5543445,OMIM:619339 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHSY1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST6 Macular corneal dystrophy, type II medgen_c1691013 MedGen:C1691013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST6 CHST6-related disorder chst6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST3 Larsen-like syndrome, B3GAT3 type mondo_mondo_0009511_medgen_c3278404_omim_245600_orphanet_284139 MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST3 Larsen syndrome mondo_mondo_0007875_medgen_c0175778_omim_150250_orphanet_503 MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250,Orphanet:503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST14 CHST14-related disorder chst14_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Other rare neuromuscular disorders other_rare_neuromuscular_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Slow-Channel Congenital Myasthenia Syndrome medgen_c0751885_orphanet_590 MedGen:C0751885,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Multifocal seizures human_phenotype_ontology_hp_0031165_medgen_c3281034 Human_Phenotype_Ontology:HP:0031165,MedGen:C3281034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Long QT syndrome 2 mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Congenital myasthenic syndrome 4 mondo_mondo_1040021_medgen_cn378141 MONDO:MONDO:1040021,MedGen:CN378141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Congenital myasthenic syndrome 1A mondo_mondo_0011088_medgen_c2931107_omim_601462 MONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB4 Chronic obstructive pulmonary disease human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB2 Autosomal dominant nocturnal frontal lobe epilepsy 1 mondo_mondo_0010899_medgen_c1838049_omim_600513_orphanet_98784 MONDO:MONDO:0010899,MedGen:C1838049,OMIM:600513,Orphanet:98784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA3 CHRNA3-related disorder chrna3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Slow-Channel Congenital Myasthenia Syndrome medgen_c0751885_orphanet_590 MedGen:C0751885,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Congenital myopathy mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRM1 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRM1 CHRM1-related neurodevelopmental disorder chrm1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRDL1 Corneal disorder mondo_mondo_0000942_medgen_c0010034 MONDO:MONDO:0000942,MedGen:C0010034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHP1 Spastic ataxia 9, autosomal recessive mondo_mondo_0032753_medgen_c5193100_omim_618438 MONDO:MONDO:0032753,MedGen:C5193100,OMIM:618438 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHN1 Oromandibular-limb hypogenesis spectrum mondo_mondo_0008006_medgen_c0221060_omim_157900_orphanet_570 MONDO:MONDO:0008006,MedGen:C0221060,OMIM:157900,Orphanet:570 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHN1 Autosomal dominant Robinow syndrome 2 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHMP1A Pontoneocerebellar hypoplasia mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHM Night blindness human_phenotype_ontology_hp_0000662_human_phenotype_ontology_hp_0007653_human_phenotype_ontology_hp_0007725_human_phenotype_ontology_hp_0007865_human_phenotype_ontology_hp_0007895_mondo_mondo_0004588_medgen_c0028077 Human_Phenotype_Ontology:HP:0000662,Human_Phenotype_Ontology:HP:0007653,Human_Phenotype_Ontology:HP:0007725,Human_Phenotype_Ontology:HP:0007865,Human_Phenotype_Ontology:HP:0007895,MONDO:MONDO:0004588,MedGen:C0028077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHM Choroideremia, Salla type medgen_c4016478 MedGen:C4016478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHM Chorioretinal atrophy human_phenotype_ontology_hp_0000533_human_phenotype_ontology_hp_0001150_human_phenotype_ontology_hp_0007884_human_phenotype_ontology_hp_0007918_human_phenotype_ontology_hp_0007931_medgen_c4048273 Human_Phenotype_Ontology:HP:0000533,Human_Phenotype_Ontology:HP:0001150,Human_Phenotype_Ontology:HP:0007884,Human_Phenotype_Ontology:HP:0007918,Human_Phenotype_Ontology:HP:0007931,MedGen:C4048273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHM Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKB Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKB CHKB-related disorder chkb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHFR condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL tumor_predisposition_syndrome_4_breast_prostate_colorectal . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Sarcoma human_phenotype_ontology_hp_0100242_mondo_mondo_0005089_medgen_c1261473 Human_Phenotype_Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Ovarian carcinoma human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Nephroblastoma human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 NICE approved PARP inhibitor treatment nice_approved_parp_inhibitor_treatment . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Melanoma human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Leiomyosarcoma human_phenotype_ontology_hp_0100243_mondo_mondo_0005058_medgen_c0023269_orphanet_64720 Human_Phenotype_Ontology:HP:0100243,MONDO:MONDO:0005058,MedGen:C0023269,Orphanet:64720 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Familial ovarian cancer mondo_mondo_0016248_medgen_c5679802 MONDO:MONDO:0016248,MedGen:C5679802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Congenital heart defects, multiple types, 3 mondo_mondo_0013988_medgen_c3554194_omim_614954 MONDO:MONDO:0013988,MedGen:C3554194,OMIM:614954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Childhood neoplasm mondo_mondo_0021079_medgen_c1368871 MONDO:MONDO:0021079,MedGen:C1368871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Cancer or benign tumor mondo_mondo_0045024_medgen_cn377727 MONDO:MONDO:0045024,MedGen:CN377727 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK2 Astrocytoma human_phenotype_ontology_hp_0009592_mondo_mondo_0019781_mesh_d001254_medgen_c0004114 Human_Phenotype_Ontology:HP:0009592,MONDO:MONDO:0019781,MeSH:D001254,MedGen:C0004114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHEK1 Male infertility due to gonadal dysgenesis or sperm disorder medgen_c5680033_orphanet_399764 MedGen:C5680033,Orphanet:399764 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 CHD8-associated Neurodevelopmental syndrome chd8_associated_neurodevelopmental_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Wiedemann-Steiner syndrome mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Scoliosis, isolated, susceptibility to, 3 mondo_mondo_0012115_medgen_c1837461_omim_608765 MONDO:MONDO:0012115,MedGen:C1837461,OMIM:608765 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Retinal coloboma human_phenotype_ontology_hp_0000480_human_phenotype_ontology_hp_0007808_medgen_c3540764 Human_Phenotype_Ontology:HP:0000480,Human_Phenotype_Ontology:HP:0007808,MedGen:C3540764 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Pyloric stenosis mondo_mondo_0001561_medgen_c0034194 MONDO:MONDO:0001561,MedGen:C0034194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Progressive hearing impairment human_phenotype_ontology_hp_0001730_human_phenotype_ontology_hp_0008590_medgen_c1842138 Human_Phenotype_Ontology:HP:0001730,Human_Phenotype_Ontology:HP:0008590,MedGen:C1842138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Poor coordination human_phenotype_ontology_hp_0002370_medgen_c0563243 Human_Phenotype_Ontology:HP:0002370,MedGen:C0563243 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Isolated anophthalmia-microphthalmia syndrome mondo_mondo_0016764_medgen_c5679828_orphanet_2542 MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Iris coloboma human_phenotype_ontology_hp_0000612_mondo_mondo_0020356_medgen_c0240063_orphanet_98944 Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Hypothyroidism human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Hypogonadotropic hypogonadism human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA medgen_c3552136 MedGen:C3552136 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Dolichocephaly human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Cystic fibrosis mondo_mondo_0009061_medgen_c0010674_omim_219700_orphanet_586 MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Congenital heart disease (variable) medgen_c3805326 MedGen:C3805326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Chromatinopathy chromatinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Chorioretinal coloboma human_phenotype_ontology_hp_0000567_human_phenotype_ontology_hp_0000611_human_phenotype_ontology_hp_0007718_human_phenotype_ontology_hp_0007784_medgen_c0240896 Human_Phenotype_Ontology:HP:0000567,Human_Phenotype_Ontology:HP:0000611,Human_Phenotype_Ontology:HP:0007718,Human_Phenotype_Ontology:HP:0007784,MedGen:C0240896 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Choanal atresia human_phenotype_ontology_hp_0000416_human_phenotype_ontology_hp_0000453_human_phenotype_ontology_hp_0004496_human_phenotype_ontology_hp_0004503_mondo_mondo_0012155_medgen_c0008297_orphanet_137914 Human_Phenotype_Ontology:HP:0000416,Human_Phenotype_Ontology:HP:0000453,Human_Phenotype_Ontology:HP:0004496,Human_Phenotype_Ontology:HP:0004503,MONDO:MONDO:0012155,MedGen:C0008297,Orphanet:137914 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 CHD7 disorder chd7_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD5 CHD5-related disorder chd5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD4 Neonatal encephalopathy medgen_c0235820 MedGen:C0235820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD3 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD3 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Speech and developmental delay speech_and_developmental_delay . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Sifrim-Hitz-Weiss syndrome mondo_mondo_0014946_medgen_c4310688_omim_617159_orphanet_653712 MONDO:MONDO:0014946,MedGen:C4310688,OMIM:617159,Orphanet:653712 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Lennox-Gastaut syndrome mondo_mondo_0016532_medgen_c0238111_orphanet_2382 MONDO:MONDO:0016532,MedGen:C0238111,Orphanet:2382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 CHD2-related neurodevelopmental disorder chd2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD4 Lactic acidosis human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD4 Hypoglycemia human_phenotype_ontology_hp_0001943_human_phenotype_ontology_hp_0003356_mondo_mondo_0004946_medgen_c0020615 Human_Phenotype_Ontology:HP:0001943,Human_Phenotype_Ontology:HP:0003356,MONDO:MONDO:0004946,MedGen:C0020615 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD4 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD4 Fetal growth restriction human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD4 Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD4 Decreased liver function human_phenotype_ontology_hp_0001410_human_phenotype_ontology_hp_0004393_human_phenotype_ontology_hp_0005228_human_phenotype_ontology_hp_0006570_medgen_c0232744 Human_Phenotype_Ontology:HP:0001410,Human_Phenotype_Ontology:HP:0004393,Human_Phenotype_Ontology:HP:0005228,Human_Phenotype_Ontology:HP:0006570,MedGen:C0232744 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD4 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD4 Abnormal brain lactate level by MRS human_phenotype_ontology_hp_0025045_medgen_c4476564 Human_Phenotype_Ontology:HP:0025045,MedGen:C4476564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHCHD2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Congenital myasthenic syndrome 21 mondo_mondo_0014983_medgen_c4310654_omim_617239 MONDO:MONDO:0014983,MedGen:C4310654,OMIM:617239 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAMP1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAF1B Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAF1B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAF1B Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAF1A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CGNL1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR ivacaftor / tezacaftor response - Efficacy ivacaftor_tezacaftor_response_efficacy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR ivacaftor / lumacaftor response - Efficacy ivacaftor_lumacaftor_response_efficacy MedGen:CN322746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Sweat chloride elevation without cystic fibrosis medgen_c4016791 MedGen:C4016791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Spermatogenic failure, Y-linked, 2 mondo_mondo_0010767_medgen_c1839071_omim_415000_orphanet_1646 MONDO:MONDO:0010767,MedGen:C1839071,OMIM:415000,Orphanet:1646 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Recurrent pancreatitis human_phenotype_ontology_hp_0100027_medgen_c4551632 Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Melanoma-pancreatic cancer syndrome mondo_mondo_0011713_medgen_c1838547_omim_606719_orphanet_404560 MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719,Orphanet:404560 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Hereditary nonpolyposis colon cancer mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Duodenal stenosis human_phenotype_ontology_hp_0005205_human_phenotype_ontology_hp_0010449_human_phenotype_ontology_hp_0100867_medgen_c0238093 Human_Phenotype_Ontology:HP:0005205,Human_Phenotype_Ontology:HP:0010449,Human_Phenotype_Ontology:HP:0100867,MedGen:C0238093 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Bronchiectasis with or without elevated sweat chloride 1, modifier of medgen_c4017631 MedGen:C4017631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFP Properdin deficiency, type III medgen_c1839456 MedGen:C1839456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFL2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFL2 CFL2-related disorder cfl2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFHR5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFHR3 Hemolytic uremic syndrome, atypical, susceptibility to, 1 mondo_mondo_0009335_medgen_c2749604_omim_235400_orphanet_2134_orphanet_90038 MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFHR1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFD ELANE-related disorder elane_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFB condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFB Complement factor b deficiency mondo_mondo_0014255_medgen_c3809950_omim_615561 MONDO:MONDO:0014255,MedGen:C3809950,OMIM:615561 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFB CFB-related disorder cfb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP91 Male infertility with teratozoospermia due to single gene mutation mondo_mondo_0018394_medgen_c4706677_orphanet_399808 MONDO:MONDO:0018394,MedGen:C4706677,Orphanet:399808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP74 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP70 Spermatogenic failure 41 mondo_mondo_0032863_medgen_c5231455_omim_618670 MONDO:MONDO:0032863,MedGen:C5231455,OMIM:618670 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP69 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP69 Non-syndromic male infertility due to sperm motility disorder medgen_c0403811_orphanet_276234 MedGen:C0403811,Orphanet:276234 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP65 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP65 CFAP65-related disorder cfap65_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP57 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP57 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP54 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP54 Ciliary dyskinesia, primary, 54 mondo_mondo_0100607_medgen_c6012704_omim_621125 MONDO:MONDO:0100607,MedGen:C6012704,OMIM:621125 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP53 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP53 Dextrocardia human_phenotype_ontology_hp_0001651_mondo_mondo_0015661_medgen_c0011813_orphanet_1666 Human_Phenotype_Ontology:HP:0001651,MONDO:MONDO:0015661,MedGen:C0011813,Orphanet:1666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP53 CFAP53-related disorder cfap53_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP52 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP52 Situs inversus human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP47 Spermatogenic failure, X-linked, 3 mondo_mondo_0025354_medgen_c5542347_omim_301059 MONDO:MONDO:0025354,MedGen:C5542347,OMIM:301059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP43 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP43 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP43 CFAP43-related disorder cfap43_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP43 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP418 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP410 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP300 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP300 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP298 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP251 multiple morphologic abnormalities of the sperm flagellum multiple_morphologic_abnormalities_of_the_sperm_flagellum . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP251 dysplasia of the mitochondrial sheath dysplasia_of_the_mitochondrial_sheath . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP251 Spermatogenic failure 18 mondo_mondo_0054615_medgen_c4539783_omim_617576 MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP251 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP251 CFAP251-related disorder cfap251_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP206 Spermatogenic failure 102 mondo_mondo_0980708_medgen_cn380056_omim_621387 MONDO:MONDO:0980708,MedGen:CN380056,OMIM:621387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP206 Abnormal sperm tail morphology human_phenotype_ontology_hp_0012868_medgen_c4022699 Human_Phenotype_Ontology:HP:0012868,MedGen:C4022699 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP126 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFAP126 Pheochromocytoma/paraganglioma syndrome 3 mondo_mondo_0011544_medgen_c1854336_omim_605373_orphanet_29072 MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CETP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CETP Hereditary spastic paraplegia 52 mondo_mondo_0013552_medgen_c3279743_omim_614067_orphanet_280763 MONDO:MONDO:0013552,MedGen:C3279743,OMIM:614067,Orphanet:280763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CETP Cholesterol-ester transfer protein deficiency mondo_mondo_0007744_medgen_c3875011 MONDO:MONDO:0007744,MedGen:C3875011 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CETP CETP-related disorder cetp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERT1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS3 Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS3 Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Visceral heterotaxy mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Transposition of the great arteries human_phenotype_ontology_hp_0001669_mondo_mondo_0000153_medgen_c0040761_orphanet_216675 Human_Phenotype_Ontology:HP:0001669,MONDO:MONDO:0000153,MedGen:C0040761,Orphanet:216675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 GDF1-related disorder gdf1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 GDF1-RELATED DISORDERS gdf1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERS1 Congenital heart defects, multiple types mondo_mondo_0000119_medgen_cn377732 MONDO:MONDO:0000119,MedGen:CN377732 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Severe photosensitivity human_phenotype_ontology_hp_0007537_medgen_c1849186 Human_Phenotype_Ontology:HP:0007537,MedGen:C1849186 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL CERKL-related retinopathy mondo_mondo_0800401_medgen_cn322607 MONDO:MONDO:0800401,MedGen:CN322607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL CERKL-related disorder cerkl_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Adult-onset night blindness human_phenotype_ontology_hp_0007830_medgen_c4024790 Human_Phenotype_Ontology:HP:0007830,MedGen:C4024790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP97 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP97 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Thick corpus callosum human_phenotype_ontology_hp_0006805_human_phenotype_ontology_hp_0006807_human_phenotype_ontology_hp_0007074_human_phenotype_ontology_hp_0200009_human_phenotype_ontology_hp_0200010_medgen_c1835194 Human_Phenotype_Ontology:HP:0006805,Human_Phenotype_Ontology:HP:0006807,Human_Phenotype_Ontology:HP:0007074,Human_Phenotype_Ontology:HP:0200009,Human_Phenotype_Ontology:HP:0200010,MedGen:C1835194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Sudden cardiac death efo_the_experimental_factor_ontology_efo_0004278_human_phenotype_ontology_hp_0001645_human_phenotype_ontology_hp_0005161_mesh_d016757_medgen_c0085298 EFO:_The_Experimental_Factor_Ontology:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L PLN-related disorder pln_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L PLN-related cardiomyopathy pln_related_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Intrinsic cardiomyopathy mondo_mondo_0000591_medgen_cn305117 MONDO:MONDO:0000591,MedGen:CN305117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Cardiac arrest human_phenotype_ontology_hp_0001695_mondo_mondo_0000745_medgen_c0018790 Human_Phenotype_Ontology:HP:0001695,MONDO:MONDO:0000745,MedGen:C0018790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP85L Arrhythmogenic right ventricular dysplasia 9 mondo_mondo_0012180_medgen_c1836906_omim_609040 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP83 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP83 Ciliopathy mondo_mondo_0005308_medgen_c4277690_orphanet_363250 MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP78 Cone-rod dystrophy and hearing loss mondo_mondo_0014980_medgen_cn263092_omim_ps617236 MONDO:MONDO:0014980,MedGen:CN263092,OMIM:PS617236 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP76 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP63 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP63 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP57 Mosaic variegated aneuploidy syndrome 1 mondo_mondo_0009759_medgen_c1850343_omim_257300_orphanet_1052 MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP57 Mosaic variegated aneuploidy syndrome mondo_mondo_0000141_medgen_c4551972_omim_ps257300_orphanet_1052 MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300,Orphanet:1052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP55 Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP41 Familial Autism Spectrum Disorder familial_autism_spectrum_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP41 CEP41-related disorder cep41_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Senior-Loken syndrome 1 mondo_mondo_0009962_medgen_c4551559_omim_266900_orphanet_3156 MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphanet:3156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Renal dysplasia and retinal aplasia mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Night blindness human_phenotype_ontology_hp_0000662_human_phenotype_ontology_hp_0007653_human_phenotype_ontology_hp_0007725_human_phenotype_ontology_hp_0007865_human_phenotype_ontology_hp_0007895_mondo_mondo_0004588_medgen_c0028077 Human_Phenotype_Ontology:HP:0000662,Human_Phenotype_Ontology:HP:0007653,Human_Phenotype_Ontology:HP:0007725,Human_Phenotype_Ontology:HP:0007865,Human_Phenotype_Ontology:HP:0007895,MONDO:MONDO:0004588,MedGen:C0028077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Kidney disorder human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 COG7 congenital disorder of glycosylation mondo_mondo_0012118_medgen_c2931010_omim_608779_orphanet_79333 MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 CEP20-related disorder cep20_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP250 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP250 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP19 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP164 Renal dysplasia and retinal aplasia mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP152 Seckel syndrome mondo_mondo_0019342_medgen_c0265202_omim_ps210600_orphanet_324761_orphanet_808 MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:324761,Orphanet:808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP152 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP128 Hypothyroidism due to TSH receptor mutations mondo_mondo_0010142_medgen_c3493776_omim_275200_orphanet_90673 MONDO:MONDO:0010142,MedGen:C3493776,OMIM:275200,Orphanet:90673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP120 Chuvash polycythemia mondo_mondo_0009892_medgen_c1837915_omim_263400_orphanet_238557 MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 Autosomal recessive CEP104-related disorders autosomal_recessive_cep104_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPT Short stature and microcephaly with genital anomalies mondo_mondo_0032875_medgen_c5231467_omim_618702 MONDO:MONDO:0032875,MedGen:C5231467,OMIM:618702 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPT Methylmalonic aciduria and homocystinuria, cb1L type mondo_mondo_0975798_medgen_c5975387_omim_620940 MONDO:MONDO:0975798,MedGen:C5975387,OMIM:620940 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPT Methylmalonic acidemia with homocystinuria, type cblX mondo_mondo_0010657_medgen_c0796208_omim_309541_orphanet_369962 MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPT Disorders of Intracellular Cobalamin Metabolism disorders_of_intracellular_cobalamin_metabolism MedGen:CN043592 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPP Low-frequency sensorineural hearing impairment human_phenotype_ontology_hp_0008573_medgen_c3810445 Human_Phenotype_Ontology:HP:0008573,MedGen:C3810445 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPP Low-frequency hearing loss human_phenotype_ontology_hp_0008542_medgen_c0271514 Human_Phenotype_Ontology:HP:0008542,MedGen:C0271514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPO condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPO ADCY3-related disorder adcy3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPF Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPF Primary ciliary dyskinesia 29 mondo_mondo_0014378_medgen_c4014534_omim_615872_orphanet_244 MONDO:MONDO:0014378,MedGen:C4014534,OMIM:615872,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPF Cystinuria human_phenotype_ontology_hp_0003131_mondo_mondo_0009067_medgen_c0010691_omim_220100_orphanet_214 Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPE condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR2 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR1 Yellow nail syndrome mondo_mondo_0007921_medgen_c0221348_omim_153300_orphanet_662 MONDO:MONDO:0007921,MedGen:C0221348,OMIM:153300,Orphanet:662 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR1 Moderate NDD moderate_ndd . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELSR1 Mild NDD mild_ndd . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELF2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELF2 CELF2-related disorder celf2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CELA2A CELA2A-related disorder cela2a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEL condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEBPE condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEBPE SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT specific_granule_deficiency_1_autosomal_dominant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEBPE Pelger-Huet-like anomaly and episodic fever with abdominal pain mondo_mondo_0009842_medgen_c1850054_omim_260570 MONDO:MONDO:0009842,MedGen:C1850054,OMIM:260570 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEACAM16 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEACAM16 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEACAM16 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEACAM16 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDX2 Sirenomelia human_phenotype_ontology_hp_0010497_mondo_mondo_0017850_medgen_c0037205_orphanet_3169 Human_Phenotype_Ontology:HP:0010497,MONDO:MONDO:0017850,MedGen:C0037205,Orphanet:3169 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDT1 Meier-Gorlin syndrome mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDSN condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDSN CDSN-related disorder cdsn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDON condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDON Pituitary stalk interruption syndrome mondo_mondo_0019828_medgen_c4053775_orphanet_95496 MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDON Congenital ocular coloboma human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2C Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2B-AS1 Three Vessel Coronary Disease medgen_c3272265 MedGen:C3272265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2B Three Vessel Coronary Disease medgen_c3272265 MedGen:C3272265 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Squamous cell lung carcinoma human_phenotype_ontology_hp_0030359_mondo_mondo_0005097_medgen_c0149782 Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Familial meningioma mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1C Silver-Russell syndrome 1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1C Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1B CDKN1B-related disorder cdkn1b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1A Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Stereotypical hand wringing human_phenotype_ontology_hp_0012171_medgen_c0562479 Human_Phenotype_Ontology:HP:0012171,MedGen:C0562479 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Stereotypical body rocking human_phenotype_ontology_hp_0012172_medgen_c4023013 Human_Phenotype_Ontology:HP:0012172,MedGen:C4023013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Peripheral schisis medgen_c4068740 MedGen:C4068740 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Nicolaides-Baraitser syndrome mondo_mondo_0011053_medgen_c1303073_omim_601358_orphanet_3051 MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Macular schisis human_phenotype_ontology_hp_0011511_medgen_c4023321 Human_Phenotype_Ontology:HP:0011511,MedGen:C4023321 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Developmental and epileptic encephalopathy, 4 mondo_mondo_0012812_medgen_c2677326_omim_612164_orphanet_1934_orphanet_33069_orphanet_599373 MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164,Orphanet:1934,Orphanet:33069,Orphanet:599373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Bruxism human_phenotype_ontology_hp_0003763_mondo_mondo_0002443_medgen_c0006325 Human_Phenotype_Ontology:HP:0003763,MONDO:MONDO:0002443,MedGen:C0006325 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Angelman syndrome mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL2 CDKL2-related condition cdkl2_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK9 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Stillbirth human_phenotype_ontology_hp_0001624_human_phenotype_ontology_hp_0001625_human_phenotype_ontology_hp_0003826_medgen_c0595939 Human_Phenotype_Ontology:HP:0001624,Human_Phenotype_Ontology:HP:0001625,Human_Phenotype_Ontology:HP:0003826,MedGen:C0595939 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Ebstein anomaly human_phenotype_ontology_hp_0006674_human_phenotype_ontology_hp_0010316_mondo_mondo_0009144_medgen_c0013481_omim_224700_orphanet_1880 Human_Phenotype_Ontology:HP:0006674,Human_Phenotype_Ontology:HP:0010316,MONDO:MONDO:0009144,MedGen:C0013481,OMIM:224700,Orphanet:1880 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Congenital diaphragmatic hernia human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Complex neurodevelopmental disorder with or without congenital anomalies mondo_mondo_0100465_medgen_cn315647 MONDO:MONDO:0100465,MedGen:CN315647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Common atrium human_phenotype_ontology_hp_0011565_medgen_c0392482 Human_Phenotype_Ontology:HP:0011565,MedGen:C0392482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK8 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK6 Microcephaly 12, primary, autosomal recessive mondo_mondo_0014484_medgen_c4015156_omim_616080_orphanet_2512 MONDO:MONDO:0014484,MedGen:C4015156,OMIM:616080,Orphanet:2512 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK5RAP2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK5RAP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK4 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK4 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK16 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK16 Oligospermia mondo_mondo_0001913_mesh_d009845_medgen_c0028960 MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK16 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK12 Lung adenocarcinoma human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK10 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK10 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Cone-rod dystrophy 12 mondo_mondo_0012983_medgen_c2675210_omim_612657_orphanet_1872 MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDHR1 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH4 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 Hypotrichosis simplex mondo_mondo_0018914_mesh_c537160_medgen_c1854310_orphanet_55654 MONDO:MONDO:0018914,MeSH:C537160,MedGen:C1854310,Orphanet:55654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 Hypotrichosis human_phenotype_ontology_hp_0001006_human_phenotype_ontology_hp_0002551_human_phenotype_ontology_hp_0004525_human_phenotype_ontology_hp_0004874_mondo_mondo_0003037_medgen_c0020678_omim_ps605389 Human_Phenotype_Ontology:HP:0001006,Human_Phenotype_Ontology:HP:0002551,Human_Phenotype_Ontology:HP:0004525,Human_Phenotype_Ontology:HP:0004874,MONDO:MONDO:0003037,MedGen:C0020678,OMIM:PS605389 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH3 CDH3-related disorder cdh3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Usher syndrome type 2A mondo_mondo_0010169_medgen_c1848634_omim_276901_orphanet_231178_orphanet_886 MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Usher syndrome type 2 mondo_mondo_0016484_medgen_c0339534_orphanet_231178 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 USHER SYNDROME, TYPE ID/F, DIGENIC medgen_c3276419 MedGen:C3276419 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Syndromic retinitis pigmentosa medgen_c5680332_orphanet_98661 MedGen:C5680332,Orphanet:98661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Combined PSAP deficiency mondo_mondo_0012719_medgen_c2673635_omim_611721_orphanet_139406 MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Bilateral sensorineural hearing impairment human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 CDH2-related disorder cdh2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH2 Attention deficit-hyperactivity disorder 8 mondo_mondo_0859261_medgen_c5677018_omim_619957 MONDO:MONDO:0859261,MedGen:C5677018,OMIM:619957 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Diffuse midline glioma, H3 K27-altered mondo_mondo_1060171_medgen_c5669877 MONDO:MONDO:1060171,MedGen:C5669877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Breast lobular carcinoma mondo_mondo_0000552_medgen_c0206692 MONDO:MONDO:0000552,MedGen:C0206692 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDH1 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDCA3 Congenital stationary night blindness 1H mondo_mondo_0014872_medgen_c4310758_omim_617024 MONDO:MONDO:0014872,MedGen:C4310758,OMIM:617024 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Parathyroid gland adenoma human_phenotype_ontology_hp_0002897_human_phenotype_ontology_hp_0008257_mondo_mondo_0006890_medgen_c0262587 Human_Phenotype_Ontology:HP:0002897,Human_Phenotype_Ontology:HP:0008257,MONDO:MONDO:0006890,MedGen:C0262587 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Parathyroid adenoma, somatic medgen_c2675664 MedGen:C2675664 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Multiple endocrine neoplasia, type 1 mondo_mondo_0007540_mesh_d018761_medgen_c0025267_omim_131100_orphanet_652 MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Cystic parathyroid adenoma medgen_c4017087 MedGen:C4017087 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB Imerslund-Grasbeck syndrome type 2 mondo_mondo_0100157_medgen_c4016948_omim_618882 MONDO:MONDO:0100157,MedGen:C4016948,OMIM:618882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB Imerslund-Grasbeck syndrome type 1 mondo_mondo_0100156_medgen_c4016819_omim_261100 MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB Imerslund-Grasbeck syndrome mondo_mondo_0009853_medgen_c4551825_omim_ps261100_orphanet_35858 MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB CDC42BPB-related disorder cdc42bpb_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42BPB Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Noonan-like syndrome medgen_c1834120 MedGen:C1834120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Familial hemophagocytic lymphohistiocytosis mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 Congenital heart disease mondo_mondo_0005453_medgen_c0152021 MONDO:MONDO:0005453,MedGen:C0152021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC42 CDC42-associated inflammatory disease cdc42_associated_inflammatory_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC40 Pontocerebellar hypoplasia, type 15 mondo_mondo_0030259_medgen_c5543326_omim_619302 MONDO:MONDO:0030259,MedGen:C5543326,OMIM:619302 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC40 Congenital pontocerebellar hypoplasia mesh_c580383_medgen_c0266468 MeSH:C580383,MedGen:C0266468 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC27 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC25A Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC14A Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC14A Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC14A CDC14A-related disorder cdc14a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD8A Susceptibility to respiratory infections associated with CD8alpha chain mutation mondo_mondo_0012161_medgen_c1837065_omim_608957_orphanet_169085 MONDO:MONDO:0012161,MedGen:C1837065,OMIM:608957,Orphanet:169085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD79B Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD79A Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD63 RDH5-related disorder rdh5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD55 CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE cromer_blood_group_system_dr_a_phenotype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD46 Thrombotic microangiopathy mondo_mondo_0019737_mesh_d057049_medgen_c2717961_orphanet_93573 MONDO:MONDO:0019737,MeSH:D057049,MedGen:C2717961,Orphanet:93573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD46 CD46-related disorder cd46_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD46 CD46-related atypical hemolytic uremic syndrome cd46_related_atypical_hemolytic_uremic_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD46 Autosomal dominant and autosomal recessive CD46-related disorders autosomal_dominant_and_autosomal_recessive_cd46_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD40LG Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD40LG Hyperimmunoglobulin M syndrome mondo_mondo_0003947_medgen_c0272236_omim_ps308230 MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD40LG Common variable immunodeficiency mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3G condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3E condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3E Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3E Immunodeficiency 18, severe combined immunodeficiency variant medgen_c3810128 MedGen:C3810128 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3D condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3D Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD3D CD3D-related disorder cd3d_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD36 Malaria, cerebral, resistance to medgen_c1969379 MedGen:C1969379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD36 Inherited bleeding disorder, platelet-type mondo_mondo_0000009_mesh_d001791_medgen_c0005818_omim_ps231200_orphanet_248326 MONDO:MONDO:0000009,MeSH:D001791,MedGen:C0005818,OMIM:PS231200,Orphanet:248326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD2AP FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 medgen_c4016880 MedGen:C4016880 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD2AP CD2AP-related disorder cd2ap_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD28 Immunodeficiency 123 with HPV-related verrucosis mondo_mondo_0971177_medgen_c5935639_omim_620901 MONDO:MONDO:0971177,MedGen:C5935639,OMIM:620901 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD27 Immunodeficiency human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD27 Combined immunodeficiency human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD247 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD247 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD247 CD247-related disorder cd247_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCT7 Myocardial infarction, susceptibility to, 1 medgen_c1838021 MedGen:C1838021 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCT5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCT5 Hereditary sensory and autonomic neuropathy with spastic paraplegia mondo_mondo_0009748_medgen_c1850395_omim_256840_orphanet_139578 MONDO:MONDO:0009748,MedGen:C1850395,OMIM:256840,Orphanet:139578 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCPG1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCPG1 Developmental and epileptic encephalopathy, 80 mondo_mondo_0032822_medgen_c5231418_omim_618580 MONDO:MONDO:0032822,MedGen:C5231418,OMIM:618580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNK Intellectual developmental disorder with hypertelorism and distinctive facies mondo_mondo_0029143_medgen_c4748381_omim_618147 MONDO:MONDO:0029143,MedGen:C4748381,OMIM:618147 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Wieacker-Wolff syndrome gene_4183_mondo_mondo_0010758_medgen_c0796200_omim_314580_orphanet_3454_orphanet_85283 Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580,Orphanet:3454,Orphanet:85283 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Hereditary hemorrhagic telangiectasia mondo_mondo_0019180_medgen_c0039445_omim_ps187300_orphanet_774 MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Capillary malformation human_phenotype_ontology_hp_0025104_mondo_mondo_0016231_medgen_c0340803_orphanet_211247 Human_Phenotype_Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Capillary infantile hemangioma mondo_mondo_0011191_medgen_c1865871_omim_602089 MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Arteriovenous malformation human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNF condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCND2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 mondo_mondo_0011313_medgen_c4012727_omim_603387_orphanet_83473 MONDO:MONDO:0011313,MedGen:C4012727,OMIM:603387,Orphanet:83473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNB3 Pregnancy loss, recurrent, susceptibility to, 1 mondo_mondo_0013727_medgen_c3280670_omim_614389 MONDO:MONDO:0013727,MedGen:C3280670,OMIM:614389 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCN2 Spondyloepimetaphyseal dysplasia, Li-Shao-Li type mondo_mondo_0976230_medgen_c6012697_omim_621099 MONDO:MONDO:0976230,MedGen:C6012697,OMIM:621099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCM2 Subcutaneous venous lacunae subcutaneous_venous_lacunae . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCM2 Cerebral cavernous angioma cerebral_cavernous_angioma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCM2 Cavernous hemangioma human_phenotype_ontology_hp_0001048_mondo_mondo_0003155_medgen_c0018920 Human_Phenotype_Ontology:HP:0001048,MONDO:MONDO:0003155,MedGen:C0018920 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCL5 Human immunodeficiency virus type 1, rapid disease progression with infection by medgen_c4016387 MedGen:C4016387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCKBR Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC88C Congenital hydrocephalus mondo_mondo_0016349_medgen_c0020256_omim_ps236600_orphanet_2185 MONDO:MONDO:0016349,MedGen:C0020256,OMIM:PS236600,Orphanet:2185 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC82 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC82 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC82 CCDC82-related disorder ccdc82_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC68 Recurrent spontaneous abortion human_phenotype_ontology_hp_0200067_medgen_c3279439 Human_Phenotype_Ontology:HP:0200067,MedGen:C3279439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC62 Spermatogenic failure 67 mondo_mondo_0030718_medgen_c5676947_omim_619803 MONDO:MONDO:0030718,MedGen:C5676947,OMIM:619803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC47 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Respiratory ciliopathies including non-CF bronchiectasis respiratory_ciliopathies_including_non_cf_bronchiectasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Primary ciliary dyskinesia 3 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome mondo_mondo_0014716_medgen_c4225259_omim_616638_orphanet_457485 MONDO:MONDO:0014716,MedGen:C4225259,OMIM:616638,Orphanet:457485 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Glycogen storage disease, type II mondo_mondo_0009290_medgen_c0017921_omim_232300_orphanet_365 MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Glycogen storage disease mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 GAA-related disorder gaa_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Combined immunodeficiency due to DOCK8 deficiency mondo_mondo_0009478_medgen_c4722305_omim_243700_orphanet_217390 MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC39 Infertility disorder human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC39 Heterotaxy human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC33 Matthew-Wood syndrome mondo_mondo_0011010_medgen_c1832661_omim_601186_orphanet_2470 MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC30 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC22 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Severe global developmental delay human_phenotype_ontology_hp_0011344_medgen_c1837397 Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Relative macrocephaly human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Pulmonary valve stenosis mondo_mondo_0006936_medgen_c0034089 MONDO:MONDO:0006936,MedGen:C0034089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Hypothyroidism human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Growth delay human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 EEG with spike-wave complexes human_phenotype_ontology_hp_0010850_medgen_c4023683 Human_Phenotype_Ontology:HP:0010850,MedGen:C4023683 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC186 Developmental stagnation human_phenotype_ontology_hp_0007130_human_phenotype_ontology_hp_0007198_human_phenotype_ontology_hp_0007281_medgen_c1848980 Human_Phenotype_Ontology:HP:0007130,Human_Phenotype_Ontology:HP:0007198,Human_Phenotype_Ontology:HP:0007281,MedGen:C1848980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC183 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC183 Essential tremor mondo_mondo_0003233_medgen_c0270736_omim_ps190300 MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC174 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome mondo_mondo_0014784_medgen_c4225196_omim_616816_orphanet_467176 MONDO:MONDO:0014784,MedGen:C4225196,OMIM:616816,Orphanet:467176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC134 Severe progressive deforming recessive osteogenesis imperfecta (type III) severe_progressive_deforming_recessive_osteogenesis_imperfecta_type_iii . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC134 Recurrent fractures human_phenotype_ontology_hp_0002660_human_phenotype_ontology_hp_0002757_human_phenotype_ontology_hp_0002767_human_phenotype_ontology_hp_0002809_medgen_c0016655 Human_Phenotype_Ontology:HP:0002660,Human_Phenotype_Ontology:HP:0002757,Human_Phenotype_Ontology:HP:0002767,Human_Phenotype_Ontology:HP:0002809,MedGen:C0016655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC134 Osteogenesis imperfecta, IIA 22 mondo_mondo_0030714_medgen_c5676943_omim_619795 MONDO:MONDO:0030714,MedGen:C5676943,OMIM:619795 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC107 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC107 RMRP-related disorder rmrp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC107 Metaphyseal dysplasia without hypotrichosis mondo_mondo_0009601_medgen_c1834821_omim_250460 MONDO:MONDO:0009601,MedGen:C1834821,OMIM:250460 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC107 Metaphyseal chondrodysplasia, McKusick type mondo_mondo_0009595_medgen_c0220748_omim_250250_orphanet_175 MONDO:MONDO:0009595,MedGen:C0220748,OMIM:250250,Orphanet:175 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC107 Anauxetic dysplasia 1 mondo_mondo_0054560_medgen_c4551965_omim_607095_orphanet_93347 MONDO:MONDO:0054560,MedGen:C4551965,OMIM:607095,Orphanet:93347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC107 Anauxetic dysplasia mondo_mondo_0011773_medgen_c1846796_omim_ps607095_orphanet_93347 MONDO:MONDO:0011773,MedGen:C1846796,OMIM:PS607095,Orphanet:93347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Joubert syndrome 9/15, digenic medgen_c3280898 MedGen:C3280898 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Joubert syndrome 10 mondo_mondo_0010431_medgen_c2749019_omim_300804_orphanet_2754 MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Premature ovarian failure 19 mondo_mondo_0030985_medgen_c5543229_omim_619245 MONDO:MONDO:0030985,MedGen:C5543229,OMIM:619245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Autosomal recessive non-syndromic intellectual disability mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D1A Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Hyperhomocysteinemia mondo_mondo_0004743_medgen_c0598608_omim_603174 MONDO:MONDO:0004743,MedGen:C0598608,OMIM:603174 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Malignant germ cell tumor of ovary mondo_mondo_0018171_medgen_c0346180_omim_603737_orphanet_35807 MONDO:MONDO:0018171,MedGen:C0346180,OMIM:603737,Orphanet:35807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CBL Fragile site 11b fragile_site_11b MedGen:CN296118,OMIM:600651 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAVIN1 Congenital generalized lipodystrophy human_phenotype_ontology_hp_0009059_mondo_mondo_0006536_medgen_c0221032_omim_ps608594 Human_Phenotype_Ontology:HP:0009059,MONDO:MONDO:0006536,MedGen:C0221032,OMIM:PS608594 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAVIN1 CAVIN1-related disorder cavin1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Myopathy with tubular aggregates mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 CAV3-related disorder cav3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV3 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAV1 CAV1-related disorder cav1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CATSPERB Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CATIP Spermatogenic failure 54 mondo_mondo_0023664_medgen_c5543570_omim_619379 MONDO:MONDO:0023664,MedGen:C5543570,OMIM:619379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAT condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAT Acatalasia mondo_mondo_0013571_medgen_c0268419_omim_614097_orphanet_926 MONDO:MONDO:0013571,MedGen:C0268419,OMIM:614097,Orphanet:926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASZ1 CASZ1-related dilated cardiomyopathy casz1_related_dilated_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASZ1 CASZ1-associated cardiomyopathy casz1_associated_cardiomyopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAST Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAST Early onset severe obesity medgen_c4013980 MedGen:C4013980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Primary hyperparathyroidism human_phenotype_ontology_hp_0008200_human_phenotype_ontology_hp_0008254_mondo_mondo_0010837_medgen_c0221002 Human_Phenotype_Ontology:HP:0008200,Human_Phenotype_Ontology:HP:0008254,MONDO:MONDO:0010837,MedGen:C0221002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Parathyroid gland adenoma human_phenotype_ontology_hp_0002897_human_phenotype_ontology_hp_0008257_mondo_mondo_0006890_medgen_c0262587 Human_Phenotype_Ontology:HP:0002897,Human_Phenotype_Ontology:HP:0008257,MONDO:MONDO:0006890,MedGen:C0262587 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Hypocalciuria human_phenotype_ontology_hp_0003127_medgen_c0020599 Human_Phenotype_Ontology:HP:0003127,MedGen:C0020599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Hypocalcemia human_phenotype_ontology_hp_0002901_medgen_c0020598 Human_Phenotype_Ontology:HP:0002901,MedGen:C0020598 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Hypercalcemia human_phenotype_ontology_hp_0003072_mondo_mondo_0001566_medgen_c0020437 Human_Phenotype_Ontology:HP:0003072,MONDO:MONDO:0001566,MedGen:C0020437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASR CASR-related calcium metabolism disorders casr_related_calcium_metabolism_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ2 Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ2 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ1 Myopathy with tubular aggregates mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP8 Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP8 Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP10 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP10 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP10 Autoimmune lymphoproliferative syndrome type 2A mondo_mondo_0011383_medgen_c1858968_omim_603909_orphanet_3261 MONDO:MONDO:0011383,MedGen:C1858968,OMIM:603909,Orphanet:3261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK X-linked syndromic intellectual disability mondo_mondo_0020119_medgen_cn228426_omim_ps309510 MONDO:MONDO:0020119,MedGen:CN228426,OMIM:PS309510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Smith-Magenis Syndrome-like smith_magenis_syndrome_like . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Primary microcephaly human_phenotype_ontology_hp_0011451_medgen_c2677180 Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Inability to walk human_phenotype_ontology_hp_0002540_medgen_c0560046 Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Hypertonia human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Genetic developmental and epileptic encephalopathy mondo_mondo_0100062_medgen_cn379639_omim_ps308350 MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Deficiency of butyrylcholinesterase mondo_mondo_0015270_medgen_c1283400_omim_617936_orphanet_132 MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia cask_related_intellectual_disability_and_microcephaly_with_pontine_and_cerebellar_hypoplasia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASD1 Myoclonus-dystonia syndrome mondo_mondo_0000903_medgen_cn295306_orphanet_36899 MONDO:MONDO:0000903,MedGen:CN295306,Orphanet:36899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARS2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARNMT1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARMIL2 Chronic colitis human_phenotype_ontology_hp_0100281_medgen_c0267375 Human_Phenotype_Ontology:HP:0100281,MedGen:C0267375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARMIL2 Autosomal recessive congenital ichthyosis mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD9 Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD8 Inflammatory bowel disease 30 mondo_mondo_0033643_medgen_c5436750_omim_619079 MONDO:MONDO:0033643,MedGen:C5436750,OMIM:619079 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 Sanfilippo syndrome mondo_mondo_0018937_medgen_c0026706_orphanet_581 MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 SGSH-related disorder sgsh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 PSORIASIS 2, PUSTULAR medgen_c4017074 MedGen:C4017074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 Neurodegeneration human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 Mucopolysaccharidosis, MPS-III-A mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 Mucopolysaccharidosis mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD14 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD11 Splenomegaly human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD11 Osteopenia human_phenotype_ontology_hp_0000938_human_phenotype_ontology_hp_0002768_human_phenotype_ontology_hp_0002799_human_phenotype_ontology_hp_0002800_medgen_c0029453 Human_Phenotype_Ontology:HP:0000938,Human_Phenotype_Ontology:HP:0002768,Human_Phenotype_Ontology:HP:0002799,Human_Phenotype_Ontology:HP:0002800,MedGen:C0029453 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD11 Asthma human_phenotype_ontology_hp_0002099_human_phenotype_ontology_hp_0002112_mondo_mondo_0004979_medgen_c0004096 Human_Phenotype_Ontology:HP:0002099,Human_Phenotype_Ontology:HP:0002112,MONDO:MONDO:0004979,MedGen:C0004096 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD10 Immunodeficiency 89 and autoimmunity mondo_mondo_0030484_medgen_c5562027_omim_619632 MONDO:MONDO:0030484,MedGen:C5562027,OMIM:619632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPZA2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Moderate global developmental delay human_phenotype_ontology_hp_0011343_medgen_c2237142 Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Juvenile myoclonic epilepsy mondo_mondo_0009696_medgen_c0270853_omim_ps254770_orphanet_307 MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Focal-onset seizure human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 CAPRIN1-related neurodevelopmental disorders caprin1_related_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 CAPRIN1-related disorder caprin1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Autistic behavior human_phenotype_ontology_hp_0000729_medgen_c0856975 Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPRIN1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN6 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN6 Essential tremor mondo_mondo_0003233_medgen_c0270736_omim_ps190300 MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN5 CAPN5-related disorder capn5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN5 Autosomal dominant neovascular inflammatory vitreoretinopathy mondo_mondo_0100450_medgen_c4721549_orphanet_329211 MONDO:MONDO:0100450,MedGen:C4721549,Orphanet:329211 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Shoulder girdle muscle weakness human_phenotype_ontology_hp_0003547_human_phenotype_ontology_hp_0003695_human_phenotype_ontology_hp_0009009_medgen_c0427063 Human_Phenotype_Ontology:HP:0003547,Human_Phenotype_Ontology:HP:0003695,Human_Phenotype_Ontology:HP:0009009,MedGen:C0427063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Qualitative or quantitative defects of calpain medgen_c5680830_orphanet_207104 MedGen:C5680830,Orphanet:207104 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Myositis, eosinophilic medgen_c1299884 MedGen:C1299884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Limb-girdle muscular dystrophy, recessive limb_girdle_muscular_dystrophy_recessive MedGen:CN239352 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Limb-girdle muscle weakness human_phenotype_ontology_hp_0003325_human_phenotype_ontology_hp_0008971_medgen_c1858127 Human_Phenotype_Ontology:HP:0003325,Human_Phenotype_Ontology:HP:0008971,MedGen:C1858127 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 EMG: myopathic abnormalities human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Congenital muscular dystrophy human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Calf muscle hypertrophy human_phenotype_ontology_hp_0003703_human_phenotype_ontology_hp_0008981_human_phenotype_ontology_hp_0009024_medgen_c1843057 Human_Phenotype_Ontology:HP:0003703,Human_Phenotype_Ontology:HP:0008981,Human_Phenotype_Ontology:HP:0009024,MedGen:C1843057 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Autosomal recessive disease mondo_mondo_0006025_medgen_c0265388 MONDO:MONDO:0006025,MedGen:C0265388 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN15 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN10 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN10 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN10 Diabetes mellitus, noninsulin-dependent, 1 mondo_mondo_0011027_medgen_c1832544_omim_601283 MONDO:MONDO:0011027,MedGen:C1832544,OMIM:601283 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN10 CAPN10-related disorder capn10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN1 Hereditary spastic paraplegia 11 mondo_mondo_0011445_medgen_c1858479_omim_604360_orphanet_2822 MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 Multiple epiphyseal dysplasia human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 Joint dislocation human_phenotype_ontology_hp_0001373_human_phenotype_ontology_hp_0002772_medgen_c0012691 Human_Phenotype_Ontology:HP:0001373,Human_Phenotype_Ontology:HP:0002772,MedGen:C0012691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMTA1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMTA1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK4 Involuntary movements human_phenotype_ontology_hp_0004305_human_phenotype_ontology_hp_0007120_medgen_c0427086 Human_Phenotype_Ontology:HP:0004305,Human_Phenotype_Ontology:HP:0007120,MedGen:C0427086 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2G condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2G Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2G Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2G Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2G Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2D CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy mondo_mondo_1040008_medgen_cn378761 MONDO:MONDO:1040008,MedGen:CN378761 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2D CAMK2D-related condition camk2d_related_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Hyperventilation human_phenotype_ontology_hp_0002883_medgen_c0020578 Human_Phenotype_Ontology:HP:0002883,MedGen:C0020578 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Apnea human_phenotype_ontology_hp_0002104_human_phenotype_ontology_hp_0005936_human_phenotype_ontology_hp_0005958_medgen_c0003578 Human_Phenotype_Ontology:HP:0002104,Human_Phenotype_Ontology:HP:0005936,Human_Phenotype_Ontology:HP:0005958,MedGen:C0003578 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Agitation human_phenotype_ontology_hp_0000713_medgen_c0085631 Human_Phenotype_Ontology:HP:0000713,MedGen:C0085631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2B Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK2A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMK1D Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALU Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM2 SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM2 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM1 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALM1 Catecholaminergic polymorphic ventricular tachycardia mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALHM1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CALCRL Lymphatic malformation 8 mondo_mondo_0032907_medgen_c5231496_omim_618773 MONDO:MONDO:0032907,MedGen:C5231496,OMIM:618773 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CADM3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CADM3 Charcot-Marie-Tooth disease, axonal, type 2FF mondo_mondo_0030433_medgen_c5561981_omim_619519 MONDO:MONDO:0030433,MedGen:C5561981,OMIM:619519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACUL1 Flexion contracture human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNG7 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNB4 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNB1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 mondo_mondo_0014101_medgen_c3808964_omim_615249_orphanet_899 MONDO:MONDO:0014101,MedGen:C3808964,OMIM:615249,Orphanet:899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNB1 Congenital muscular disorder congenital_muscular_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D4 Retinal cone dystrophy 4 mondo_mondo_0012507_medgen_c1864849_omim_610478_orphanet_1872 MONDO:MONDO:0012507,MedGen:C1864849,OMIM:610478,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D2 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D2 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Malignant hyperthermia, susceptibility to mondo_mondo_0800188_medgen_c5437603_omim_ps145600 MONDO:MONDO:0800188,MedGen:C5437603,OMIM:PS145600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Malignant hyperthermia of anesthesia human_phenotype_ontology_hp_0034733_mondo_mondo_0018493_medgen_c0024591_orphanet_423 Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Hypokalemic periodic paralysis mondo_mondo_0008223_medgen_c0238358_orphanet_681 MONDO:MONDO:0008223,MedGen:C0238358,Orphanet:681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S CACNA1S-related disorder cacna1s_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1H Idiopathic generalized epilepsy mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1H Epilepsy, childhood absence, susceptibility to, 6 mondo_mondo_0012763_medgen_c2749872_omim_611942_orphanet_64280 MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1H Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Hirsutism human_phenotype_ontology_hp_0001007_medgen_c0019572 Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G CACNA1G-related disorder cacna1g_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1G Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Progressive cone dystrophy (without rod involvement) medgen_c0271092 MedGen:C0271092 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Myopia human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Congenital stationary night blindness, type 2A, severe medgen_c4016457 MedGen:C4016457 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F CACNA1F-related retinopathy mondo_mondo_0700243_medgen_cn375918 MONDO:MONDO:0700243,MedGen:CN375918 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Amblyopia human_phenotype_ontology_hp_0000646_mondo_mondo_0001020_medgen_c0002418 Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1E Van der Woude syndrome 1 mondo_mondo_0007333_medgen_c4551864_omim_119300 MONDO:MONDO:0007333,MedGen:C4551864,OMIM:119300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1E CACNA1E-related disorder cacna1e_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1D Congenital disorder of glycosylation, type Iw, autosomal dominant mondo_mondo_0859223_medgen_c5562068_omim_619714 MONDO:MONDO:0859223,MedGen:C5562068,OMIM:619714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Ventricular fibrillation, paroxysmal familial, type 1 mondo_mondo_0011376_medgen_c2751898_omim_603829_orphanet_228140 MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829,Orphanet:228140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Conduction disorder of the heart mondo_mondo_0100042_medgen_c0264886_omim_115080_orphanet_871 MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1B CACNA1B-related disorder cacna1b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Sporadic hemiplegic migraine mondo_mondo_0020757_medgen_c1832903 MONDO:MONDO:0020757,MedGen:C1832903 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Recurrent respiratory infections human_phenotype_ontology_hp_0002205_human_phenotype_ontology_hp_0002782_human_phenotype_ontology_hp_0002873_medgen_c3806482 Human_Phenotype_Ontology:HP:0002205,Human_Phenotype_Ontology:HP:0002782,Human_Phenotype_Ontology:HP:0002873,MedGen:C3806482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Non-progressive congenital cerebellar ataxia non_progressive_congenital_cerebellar_ataxia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures mondo_mondo_0859286_medgen_c5774213_omim_620029 MONDO:MONDO:0859286,MedGen:C5774213,OMIM:620029 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Migraine, sporadic hemiplegic, with progressive cerebellar ataxia medgen_c1832885 MedGen:C1832885 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Migraine human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Gait ataxia human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Focal epilepsy mondo_mondo_0005384_mesh_d004828_medgen_c0014547 MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Febrile seizure (within the age range of 3 months to 6 years) human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Episodic ataxia, type 2, and epilepsy medgen_c4016713 MedGen:C4016713 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Enlarged cisterna magna human_phenotype_ontology_hp_0002280_mondo_mondo_0019953_medgen_c1853377_orphanet_97252 Human_Phenotype_Ontology:HP:0002280,MONDO:MONDO:0019953,MedGen:C1853377,Orphanet:97252 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Early Infantile Epileptic Encephalopathy, Autosomal Dominant early_infantile_epileptic_encephalopathy_autosomal_dominant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Disorder of sexual differentiation mondo_mondo_0002145_medgen_c2930619_orphanet_90771 MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Chronic and progressive ataxia chronic_and_progressive_ataxia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Cerebellar atrophy human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A CACNA1A-associated disorders cacna1a_associated_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A CACNA1A-associated disorder cacna1a_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Bulbar palsy human_phenotype_ontology_hp_0001283_human_phenotype_ontology_hp_0003441_human_phenotype_ontology_hp_0003709_medgen_c4082299 Human_Phenotype_Ontology:HP:0001283,Human_Phenotype_Ontology:HP:0003441,Human_Phenotype_Ontology:HP:0003709,MedGen:C4082299 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Ataxia Neurologic (child onset) ataxia_neurologic_child_onset . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Ataxia human_phenotype_ontology_hp_0001251_human_phenotype_ontology_hp_0001253_human_phenotype_ontology_hp_0002513_human_phenotype_ontology_hp_0007050_human_phenotype_ontology_hp_0007157_medgen_c0004134 Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MedGen:C0004134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Alternating hemiplegia of childhood 1 mondo_mondo_0007087_medgen_c3549447_omim_104290_orphanet_2131 MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP4 Disorder of eye mondo_mondo_0005328_medgen_c0015397 MONDO:MONDO:0005328,MedGen:C0015397 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP4 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP4 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP4 Achromatopsia human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CABP2 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA5A condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA5A CA5A-related disorder ca5a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA2 Osteopetrosis human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA1 Carbonic anhydrase I, Guam medgen_c4015931 MedGen:C4015931 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence CA1 Carbonic anhydrase I deficiency medgen_c4015932 MedGen:C4015932 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C6ORF89 Pontocerebellar hypoplasia, type 14 mondo_mondo_0030258_medgen_c5543322_omim_619301_orphanet_613274 MONDO:MONDO:0030258,MedGen:C5543322,OMIM:619301,Orphanet:613274 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C6ORF47 Spastic paraplegia 86, autosomal recessive mondo_mondo_0030673_medgen_c5676910_omim_619735_orphanet_631085 MONDO:MONDO:0030673,MedGen:C5676910,OMIM:619735,Orphanet:631085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C6 Immunodeficiency due to a late component of complement deficiency mondo_mondo_0015700_medgen_c0398765_orphanet_169150 MONDO:MONDO:0015700,MedGen:C0398765,Orphanet:169150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C5 Lathosterolosis mondo_mondo_0011816_medgen_c1846421_omim_607330_orphanet_46059 MONDO:MONDO:0011816,MedGen:C1846421,OMIM:607330,Orphanet:46059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C5 C5-related disorder c5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C4B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C4B Complement component 4b deficiency mondo_mondo_0013720_medgen_c5779962_omim_614379 MONDO:MONDO:0013720,MedGen:C5779962,OMIM:614379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3AR1 Hemolytic uremic syndrome, atypical, susceptibility to, 1 mondo_mondo_0009335_medgen_c2749604_omim_235400_orphanet_2134_orphanet_90038 MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 C3-related disorder c3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2ORF69 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2CD3 Rudimentary fibula human_phenotype_ontology_hp_0004986_human_phenotype_ontology_hp_0006381_medgen_c1844706 Human_Phenotype_Ontology:HP:0004986,Human_Phenotype_Ontology:HP:0006381,MedGen:C1844706 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2CD3 Ankle flexion contracture human_phenotype_ontology_hp_0004985_human_phenotype_ontology_hp_0006403_human_phenotype_ontology_hp_0006466_medgen_c1837407 Human_Phenotype_Ontology:HP:0004985,Human_Phenotype_Ontology:HP:0006403,Human_Phenotype_Ontology:HP:0006466,MedGen:C1837407 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2 C2-related disorder c2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2 C2 deficiency, type II medgen_c4017352 MedGen:C4017352 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2 C2 deficiency, type I medgen_c4017351 MedGen:C4017351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C2 Age related macular degeneration 14 mondo_mondo_0014207_medgen_c3809653_omim_615489 MONDO:MONDO:0014207,MedGen:C3809653,OMIM:615489 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1S C1S-related disorder c1s_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1RL Ehlers-Danlos syndrome, periodontal type 2 mondo_mondo_0014954_medgen_c4310681_omim_617174 MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1RL Ehlers-Danlos syndrome, periodontal type 1 mondo_mondo_0020684_medgen_c4551499_omim_130080_orphanet_75392 MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080,Orphanet:75392 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1R condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1R Ehlers-Danlos syndrome mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QTNF5 Nanophthalmia mondo_mondo_0005514_medgen_c4274282_omim_ps600165_orphanet_35612 MONDO:MONDO:0005514,MedGen:C4274282,OMIM:PS600165,Orphanet:35612 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QTNF5 MFRP-related disorder mfrp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QBP Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QB C1Q deficiency 1 mondo_mondo_0958182_medgen_cn376805_omim_613652 MONDO:MONDO:0958182,MedGen:CN376805,OMIM:613652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QB C1Q deficiency mondo_mondo_0013343_medgen_c3150902_omim_ps613652 MONDO:MONDO:0013343,MedGen:C3150902,OMIM:PS613652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QA C1Q deficiency 1 mondo_mondo_0958182_medgen_cn376805_omim_613652 MONDO:MONDO:0958182,MedGen:CN376805,OMIM:613652 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1ORF146 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1ORF122 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1ORF122 Galloway-Mowat syndrome 10 mondo_mondo_0030476_medgen_c5562020_omim_619609 MONDO:MONDO:0030476,MedGen:C5562020,OMIM:619609 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1ORF105 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1GALT1C1 Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1GALT1C1 Abnormal protein O-linked glycosylation human_phenotype_ontology_hp_0012358_medgen_c4022933 Human_Phenotype_Ontology:HP:0012358,MedGen:C4022933 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Tremor human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Peripheral visual field loss human_phenotype_ontology_hp_0007994_medgen_c0241688 Human_Phenotype_Ontology:HP:0007994,MedGen:C0241688 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Neurofibromatosis, type 1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Mental deterioration human_phenotype_ontology_hp_0001268_human_phenotype_ontology_hp_0002303_human_phenotype_ontology_hp_0006822_human_phenotype_ontology_hp_0007155_human_phenotype_ontology_hp_0007253_human_phenotype_ontology_hp_0007264_human_phenotype_ontology_hp_0007298_medgen_c0234985 Human_Phenotype_Ontology:HP:0001268,Human_Phenotype_Ontology:HP:0002303,Human_Phenotype_Ontology:HP:0006822,Human_Phenotype_Ontology:HP:0007155,Human_Phenotype_Ontology:HP:0007253,Human_Phenotype_Ontology:HP:0007264,Human_Phenotype_Ontology:HP:0007298,MedGen:C0234985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Dystonic disorder human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Adult-onset night blindness human_phenotype_ontology_hp_0007830_medgen_c4024790 Human_Phenotype_Ontology:HP:0007830,MedGen:C4024790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Abnormality of iron homeostasis human_phenotype_ontology_hp_0011031_medgen_c4023583 Human_Phenotype_Ontology:HP:0011031,MedGen:C4023583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Slow-Channel Congenital Myasthenia Syndrome medgen_c0751885_orphanet_590 MedGen:C0751885,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Multifocal seizures human_phenotype_ontology_hp_0031165_medgen_c3281034 Human_Phenotype_Ontology:HP:0031165,MedGen:C3281034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Long QT syndrome 2 mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Congenital myasthenic syndrome 1A mondo_mondo_0011088_medgen_c2931107_omim_601462 MONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Microphthalmia human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Microcornea human_phenotype_ontology_hp_0000482_human_phenotype_ontology_hp_0100688_medgen_c0266544 Human_Phenotype_Ontology:HP:0000482,Human_Phenotype_Ontology:HP:0100688,MedGen:C0266544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Cornea plana human_phenotype_ontology_hp_0007720_mondo_mondo_0000733_medgen_c0344529_omim_ps121400_orphanet_53691 Human_Phenotype_Ontology:HP:0007720,MONDO:MONDO:0000733,MedGen:C0344529,OMIM:PS121400,Orphanet:53691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C14ORF39 Azoospermia human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF60 WBP11 spliceosomopathy wbp11_spliceosomopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Vesicoureteral reflux human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Renal atrophy human_phenotype_ontology_hp_0012585_medgen_c0341698 Human_Phenotype_Ontology:HP:0012585,MedGen:C0341698 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Microphthalmia, isolated, with coloboma mondo_mondo_0000170_medgen_c2931500_omim_ps300345_orphanet_98938 MONDO:MONDO:0000170,MedGen:C2931500,OMIM:PS300345,Orphanet:98938 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Hydronephrosis human_phenotype_ontology_hp_0000126_mondo_mondo_0005510_medgen_c0020295 Human_Phenotype_Ontology:HP:0000126,MONDO:MONDO:0005510,MedGen:C0020295 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Attention deficit hyperactivity disorder human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Abnormal corpus callosum morphology human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF43 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive mondo_mondo_0859278_medgen_c5774200_omim_620009 MONDO:MONDO:0859278,MedGen:C5774200,OMIM:620009 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Papillary renal cell carcinoma type 1 human_phenotype_ontology_hp_0011797_medgen_c1336839_omim_605074_orphanet_47044 Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 NICE approved PARP inhibitor treatment nice_approved_parp_inhibitor_treatment . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Mantle cell lymphoma mondo_mondo_0018876_medgen_c4721414_orphanet_52416 MONDO:MONDO:0018876,MedGen:C4721414,Orphanet:52416 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Malignant glioma mondo_mondo_0100342_medgen_c0555198 MONDO:MONDO:0100342,MedGen:C0555198 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Koolen-de Vries syndrome mondo_mondo_0012496_medgen_c1864871_omim_610443_orphanet_96169 MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Hereditary cancer medgen_c1333600 MedGen:C1333600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Glioblastoma mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Familial ovarian cancer mondo_mondo_0016248_medgen_c5679802 MONDO:MONDO:0016248,MedGen:C5679802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Colonic neoplasm human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Clear cell carcinoma of kidney human_phenotype_ontology_hp_0006770_mondo_mondo_0005005_medgen_c0279702_orphanet_319276 Human_Phenotype_Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702,Orphanet:319276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Cerebellar ataxia mondo_mondo_0000437_medgen_c0007758_orphanet_102002 MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Breast-ovarian cancer, familial, susceptibility to, 1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Ataxia telangiectasi ataxia_telangiectasi . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Adenocarcinoma mondo_mondo_0004970_medgen_c0001418 MONDO:MONDO:0004970,MedGen:C0001418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF71 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF67 Pancreatic agenesis 2 mondo_mondo_0014406_medgen_c4014737_omim_615935_orphanet_2805 MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUD13 Achalasia-progeroid syndrome mondo_mondo_0700300_medgen_c6012702_omim_621123 MONDO:MONDO:0700300,MedGen:C6012702,OMIM:621123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1B Mosaic variegated aneuploidy syndrome mondo_mondo_0000141_medgen_c4551972_omim_ps257300_orphanet_1052 MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300,Orphanet:1052 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTK Common variable immunodeficiency mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTK Agammaglobulinaemia with absent BTK expression agammaglobulinaemia_with_absent_btk_expression . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD Possible mitochondrial disorder - nuclear genes possible_mitochondrial_disorder_nuclear_genes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BTD Cryptorchidism human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSND Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSND Bartter syndrome type 4 mondo_mondo_0019524_medgen_c3838860_orphanet_89938 MONDO:MONDO:0019524,MedGen:C3838860,Orphanet:89938 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSND BSND-related disorder bsnd_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSN Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSN BSN-associated neurodevelopmental disorder bsn_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSN BSN-associated epilepsy bsn_associated_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Symphalangism affecting the proximal phalanx of the 4th finger human_phenotype_ontology_hp_0009314_medgen_c4024448 Human_Phenotype_Ontology:HP:0009314,MedGen:C4024448 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Reduced delayed hypersensitivity human_phenotype_ontology_hp_0002972_human_phenotype_ontology_hp_0005434_medgen_c1843386 Human_Phenotype_Ontology:HP:0002972,Human_Phenotype_Ontology:HP:0005434,MedGen:C1843386 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Breast carcinoma human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD3 BRWD3- related syndromic intellectual disability brwd3_related_syndromic_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD1 Situs inversus human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD1 Recurrent sinusitis human_phenotype_ontology_hp_0011108_medgen_c0581354 Human_Phenotype_Ontology:HP:0011108,MedGen:C0581354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD1 Recurrent otitis media human_phenotype_ontology_hp_0000403_human_phenotype_ontology_hp_0008622_human_phenotype_ontology_hp_0008623_human_phenotype_ontology_hp_0008624_medgen_c0747085 Human_Phenotype_Ontology:HP:0000403,Human_Phenotype_Ontology:HP:0008622,Human_Phenotype_Ontology:HP:0008623,Human_Phenotype_Ontology:HP:0008624,MedGen:C0747085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD1 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD1 Male infertility human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD1 Ciliary dyskinesia, primary, 51 mondo_mondo_0957396_medgen_c5830608_omim_620438 MONDO:MONDO:0957396,MedGen:C5830608,OMIM:620438 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD1 Bronchiectasis human_phenotype_ontology_hp_0002110_mondo_mondo_0004822_medgen_c0006267_omim_ps211400 Human_Phenotype_Ontology:HP:0002110,MONDO:MONDO:0004822,MedGen:C0006267,OMIM:PS211400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRSK2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRSK2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRSK2 BRSK2-related neurodevelopmental disorder brsk2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRSK2 BRSK2-associated neurodevelopmental disorder brsk2_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRSK1 BRSK1-associated neurodevelopmental disorder brsk1_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRPF1 Sudden unexplained death in childhood mondo_mondo_1010117_medgen_c3827273 MONDO:MONDO:1010117,MedGen:C3827273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRPF1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRME1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRME1 Premature ovarian failure 19 mondo_mondo_0030985_medgen_c5543229_omim_619245 MONDO:MONDO:0030985,MedGen:C5543229,OMIM:619245 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRME1 Intellectual disability, autosomal recessive 3 mondo_mondo_0012037_medgen_c1838023_omim_608443_orphanet_88616 MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRME1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRME1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Ovarian cancer, susceptibility to, 1 mondo_mondo_0011931_medgen_c2675601_omim_607893 MONDO:MONDO:0011931,MedGen:C2675601,OMIM:607893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Ovarian Cancers ovarian_cancers . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Fanconi anemia complementation group D2 mondo_mondo_0009214_medgen_c3160738_omim_227646_orphanet_84 MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Diffuse intrinsic pontine glioma mondo_mondo_0006033_medgen_c2986658_orphanet_497188 MONDO:MONDO:0006033,MedGen:C2986658,Orphanet:497188 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRIP1 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRF1 Colorectal cancer mondo_mondo_0005575_medgen_c0346629_omim_114500 MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRDT Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD7 Granular cell cancer mondo_mondo_0003252_medgen_c0334618 MONDO:MONDO:0003252,MedGen:C0334618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 Mental disorder mondo_mondo_0005084_mesh_d001523_medgen_c0004936 MONDO:MONDO:0005084,MeSH:D001523,MedGen:C0004936 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 De Lange syndrome mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRD4 Cornelia de Lange-like syndrome cornelia_de_lange_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 bilateral breast cancer bilateral_breast_cancer MedGen:CN235586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Polydactyly human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Ovarian serous surface papillary adenocarcinoma mondo_mondo_0003874_medgen_c1335178 MONDO:MONDO:0003874,MedGen:C1335178 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Neuroendocrine tumor of pancreas mondo_mondo_0019954_medgen_c1337011_orphanet_97253 MONDO:MONDO:0019954,MedGen:C1337011,Orphanet:97253 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Metastatic Prostate Small Cell Carcinoma medgen_c4763838 MedGen:C4763838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Melanoma, cutaneous malignant, susceptibility to, 1 mondo_mondo_0007963_medgen_c1835047_omim_155600_orphanet_618 MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Low grade glioma mondo_mondo_0021637_medgen_c1997217 MONDO:MONDO:0021637,MedGen:C1997217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Kabuki syndrome 1 mondo_mondo_0007843_medgen_cn030661_omim_147920_orphanet_2322 MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Focal-onset seizure human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 FLG-related disorder flg_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Diffuse midline glioma, H3 K27-altered mondo_mondo_1060171_medgen_c5669877 MONDO:MONDO:1060171,MedGen:C5669877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Diffuse intrinsic pontine glioma mondo_mondo_0006033_medgen_c2986658_orphanet_497188 MONDO:MONDO:0006033,MedGen:C2986658,Orphanet:497188 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Cancer or benign tumor mondo_mondo_0045024_medgen_cn377727 MONDO:MONDO:0045024,MedGen:CN377727 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 BAP1-related tumor predisposition syndrome mondo_mondo_0013692_medgen_c3280492_omim_614327_orphanet_289539 MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA2 Ateleiotic dwarfism mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 bilateral breast cancer bilateral_breast_cancer MedGen:CN235586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Punctate palmoplantar keratoderma type 2 mondo_mondo_0008292_medgen_c1867982_omim_175860_orphanet_79502 MONDO:MONDO:0008292,MedGen:C1867982,OMIM:175860,Orphanet:79502 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Polyposis syndrome, hereditary mixed, 1 mondo_mondo_0042486_medgen_c1832587_omim_601228_orphanet_157794 MONDO:MONDO:0042486,MedGen:C1832587,OMIM:601228,Orphanet:157794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Periventricular nodular heterotopia human_phenotype_ontology_hp_0032388_mondo_mondo_0020341_mesh_d054091_medgen_c1868720_omim_ps300049_orphanet_98892 Human_Phenotype_Ontology:HP:0032388,MONDO:MONDO:0020341,MeSH:D054091,MedGen:C1868720,OMIM:PS300049,Orphanet:98892 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Peritoneum cancer mondo_mondo_0002087_medgen_c0153467 MONDO:MONDO:0002087,MedGen:C0153467 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Pancreatic cancer, susceptibility to medgen_c3469525 MedGen:C3469525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Ovarian serous surface papillary adenocarcinoma mondo_mondo_0003874_medgen_c1335178 MONDO:MONDO:0003874,MedGen:C1335178 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Invasive medullary breast carcinoma invasive_medullary_breast_carcinoma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Infant-type hemispheric glioma mondo_mondo_0858940_medgen_c5669919_orphanet_695136 MONDO:MONDO:0858940,MedGen:C5669919,Orphanet:695136 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Familial breast and ovarian cancer familial_breast_and_ovarian_cancer . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Dysgerminoma human_phenotype_ontology_hp_0100621_mondo_mondo_0003002_medgen_c0013377 Human_Phenotype_Ontology:HP:0100621,MONDO:MONDO:0003002,MedGen:C0013377 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Breast cancer, susceptibility to medgen_c3469522 MedGen:C3469522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Breast and colorectal cancer breast_and_colorectal_cancer MedGen:CN221560 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRCA1 Abnormality of the ovary human_phenotype_ontology_hp_0000137_mondo_mondo_0005558_medgen_c4021818 Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAT1 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAT1 BRAT1-related neurodevelopmental disorder brat1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAT1 BRAT1-associated neurodegenerative disorder brat1_associated_neurodegenerative_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Wide intermamillary distance human_phenotype_ontology_hp_0000779_human_phenotype_ontology_hp_0001554_human_phenotype_ontology_hp_0006610_medgen_c1827524 Human_Phenotype_Ontology:HP:0000779,Human_Phenotype_Ontology:HP:0001554,Human_Phenotype_Ontology:HP:0006610,MedGen:C1827524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Webbed neck human_phenotype_ontology_hp_0000465_medgen_c0221217 Human_Phenotype_Ontology:HP:0000465,MedGen:C0221217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Ventricular septal defect human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Ventricular hypertrophy human_phenotype_ontology_hp_0001714_human_phenotype_ontology_hp_0005167_medgen_c0340279 Human_Phenotype_Ontology:HP:0001714,Human_Phenotype_Ontology:HP:0005167,MedGen:C0340279 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Thyroid cancer, nonmedullary, 2 mondo_mondo_0008566_medgen_c4225426_omim_188470 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Tethered cord human_phenotype_ontology_hp_0002144_mondo_mondo_0006995_medgen_c0080218 Human_Phenotype_Ontology:HP:0002144,MONDO:MONDO:0006995,MedGen:C0080218 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Pulmonic stenosis human_phenotype_ontology_hp_0001642_mondo_mondo_0009938_medgen_c1956257_omim_265500_orphanet_3189 Human_Phenotype_Ontology:HP:0001642,MONDO:MONDO:0009938,MedGen:C1956257,OMIM:265500,Orphanet:3189 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Premature birth human_phenotype_ontology_hp_0001622_medgen_c0151526 Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF PHACE syndrome mondo_mondo_0011676_medgen_c1847874_omim_606519_orphanet_42775 MONDO:MONDO:0011676,MedGen:C1847874,OMIM:606519,Orphanet:42775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Neoplasm of the large intestine human_phenotype_ontology_hp_0100834_mondo_mondo_0005335_mesh_d015179_medgen_c0009404 Human_Phenotype_Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Neonatal respiratory distress human_phenotype_ontology_hp_0002643_medgen_c4281993 Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Myoepithelial tumor mondo_mondo_0002380_mesh_d009208_medgen_c0027070 MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Malignant lymphoma, large B-cell, diffuse mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Lymphatic malformation mondo_mondo_0019313_medgen_c0398368_omim_ps153100 MONDO:MONDO:0019313,MedGen:C0398368,OMIM:PS153100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Low-set, posteriorly rotated ears human_phenotype_ontology_hp_0000368_medgen_c1857486 Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Lip and oral cavity carcinoma mondo_mondo_0023644_medgen_c0220641 MONDO:MONDO:0023644,MedGen:C0220641 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Hypertrophic cardiomyopathy 4 mondo_mondo_0007268_medgen_c1861862_omim_115197 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF High forehead human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Genetic syndrome with a Dandy-Walker malformation as major feature genetic_syndrome_with_a_dandy_walker_malformation_as_major_feature . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Gallbladder cancer mondo_mondo_0005411_medgen_c0153452 MONDO:MONDO:0005411,MedGen:C0153452 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Familial cardiofaciocutaneous syndrome familial_cardiofaciocutaneous_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Costello syndrome mondo_mondo_0009026_medgen_c0587248_omim_218040_orphanet_3071 MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Childhood ganglioglioma medgen_c1332969 MedGen:C1332969 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Cerebral arteriovenous malformation human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPNT1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPHL condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPHL Complex cortical dysplasia with other brain malformations 5 mondo_mondo_0014337_medgen_c3810407_omim_615763 MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPGM condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BORCS5 BORCS5-related disorder borcs5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BOLA3 BOLA3-related disorder bola3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BNC1 Premature ovarian failure 16 mondo_mondo_0032881_medgen_c5231474_omim_618723 MONDO:MONDO:0032881,MedGen:C5231474,OMIM:618723 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BNC1 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMS1 Aplasia cutis congenita human_phenotype_ontology_hp_0001057_mondo_mondo_0007145_medgen_c0282160_omim_107600_orphanet_1114 Human_Phenotype_Ontology:HP:0001057,MONDO:MONDO:0007145,MedGen:C0282160,OMIM:107600,Orphanet:1114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Tooth agenesis, selective, 1 mondo_mondo_0007129_medgen_c3489529_omim_106600_orphanet_99798 MONDO:MONDO:0007129,MedGen:C3489529,OMIM:106600,Orphanet:99798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia medgen_c3714844 MedGen:C3714844 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary hypertension mondo_mondo_0005149_medgen_c0020542 MONDO:MONDO:0005149,MedGen:C0020542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary arterial hypertension associated with connective tissue disease medgen_c3697982_orphanet_275798 MedGen:C3697982,Orphanet:275798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Drug- or toxin-induced pulmonary arterial hypertension mondo_mondo_0017149_medgen_c0340544_orphanet_275786 MONDO:MONDO:0017149,MedGen:C0340544,Orphanet:275786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1B BMPR1B-related disorder bmpr1b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1B Acromesomelic dysplasia 2C, Hunter-Thompson type mondo_mondo_0008717_medgen_c2930970_omim_201250_orphanet_968 MONDO:MONDO:0008717,MedGen:C2930970,OMIM:201250,Orphanet:968 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1B Acromesomelic dysplasia 2B mondo_mondo_0009231_medgen_c1856738_omim_228900_orphanet_2639 MONDO:MONDO:0009231,MedGen:C1856738,OMIM:228900,Orphanet:2639 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1A Familial colorectal cancer type X mondo_mondo_0018604_medgen_c3896578_orphanet_440437 MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR1A BMPR1A-Related Polyposis Syndrome bmpr1a_related_polyposis_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPER HP:0003549 hp_0003549 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMPER BMPER-related disorder bmper_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP7 Ventricular septal defect 1 mondo_mondo_0013746_medgen_c3280777_omim_614429 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP7 Congenital heart defects, multiple types, 4 mondo_mondo_0014344_medgen_c4014310_omim_615779 MONDO:MONDO:0014344,MedGen:C4014310,OMIM:615779 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP6 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP4 Irido-corneo-trabecular dysgenesis human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP2 Ventricular septal defect 1 mondo_mondo_0013746_medgen_c3280777_omim_614429 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP2 Dextro-looped transposition of the great arteries human_phenotype_ontology_hp_0031348_mondo_mondo_0019443_medgen_c3531771_omim_608808_orphanet_860 Human_Phenotype_Ontology:HP:0031348,MONDO:MONDO:0019443,MedGen:C3531771,OMIM:608808,Orphanet:860 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP2 Atrial septal defect 1 mondo_mondo_0007172_medgen_c1862389_omim_108800_orphanet_1478 MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP15 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP15 Premature ovarian failure 4 mondo_mondo_0800317_medgen_c1845295 MONDO:MONDO:0800317,MedGen:C1845295 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BMP1 Abnormality of the skeletal system human_phenotype_ontology_hp_0000924_medgen_c4021790 Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLVRA condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Right aortic arch human_phenotype_ontology_hp_0012020_mondo_mondo_0020417_medgen_c0035615_orphanet_99081 Human_Phenotype_Ontology:HP:0012020,MONDO:MONDO:0020417,MedGen:C0035615,Orphanet:99081 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Renal agenesis human_phenotype_ontology_hp_0000104_human_phenotype_ontology_hp_0000785_human_phenotype_ontology_hp_0004745_human_phenotype_ontology_hp_0008680_mondo_mondo_0018470_medgen_c0542519_omim_ps191830_orphanet_411709 Human_Phenotype_Ontology:HP:0000104,Human_Phenotype_Ontology:HP:0000785,Human_Phenotype_Ontology:HP:0004745,Human_Phenotype_Ontology:HP:0008680,MONDO:MONDO:0018470,MedGen:C0542519,OMIM:PS191830,Orphanet:411709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Pleural effusion human_phenotype_ontology_hp_0002202_medgen_c0032227 Human_Phenotype_Ontology:HP:0002202,MedGen:C0032227 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Hemivertebrae human_phenotype_ontology_hp_0002937_medgen_c0265677 Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Flexed deformity flexed_deformity MedGen:CN228285 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Dandy-Walker syndrome mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLOC1S6 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLOC1S5 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLOC1S5 BLOC1S5-related disorder bloc1s5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLM Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLM Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLK Maturity-onset diabetes of the young type 11 mondo_mondo_0013242_medgen_c3150618_omim_613375_orphanet_552 MONDO:MONDO:0013242,MedGen:C3150618,OMIM:613375,Orphanet:552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BIN1 BIN1-related disorder bin1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICRA Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICRA CSS12 + schizoaffective disorder, bipolar type/adult-onset psychiatric condition css12_schizoaffective_disorder_bipolar_type_adult_onset_psychiatric_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICRA BICRA-related Coffin-Siris syndrome bicra_related_coffin_siris_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Tapered finger human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Spinal muscular atrophy, lower extremity-predominant, 2, AD spinal_muscular_atrophy_lower_extremity_predominant_2_ad . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Spinal muscular atrophy with lower extremity predominance mondo_mondo_0018190_medgen_c1834690_omim_ps158600_orphanet_363447 MONDO:MONDO:0018190,MedGen:C1834690,OMIM:PS158600,Orphanet:363447 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Spinal muscular atrophy human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Recurrent fractures human_phenotype_ontology_hp_0002660_human_phenotype_ontology_hp_0002757_human_phenotype_ontology_hp_0002767_human_phenotype_ontology_hp_0002809_medgen_c0016655 Human_Phenotype_Ontology:HP:0002660,Human_Phenotype_Ontology:HP:0002757,Human_Phenotype_Ontology:HP:0002767,Human_Phenotype_Ontology:HP:0002809,MedGen:C0016655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Open mouth human_phenotype_ontology_hp_0000194_medgen_c0240379 Human_Phenotype_Ontology:HP:0000194,MedGen:C0240379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Muscular atrophy human_phenotype_ontology_hp_0001299_human_phenotype_ontology_hp_0003202_human_phenotype_ontology_hp_0003545_human_phenotype_ontology_hp_0003671_human_phenotype_ontology_hp_0003702_human_phenotype_ontology_hp_0003746_human_phenotype_ontology_hp_0006995_human_phenotype_ontology_hp_0007171_human_phenotype_ontology_hp_0007356_human_phenotype_ontology_hp_0009010_human_phenotype_ontology_hp_0009048_human_phenotype_ontology_hp_0100868_mondo_mondo_0004323_medgen_c0541794 Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 EEG abnormality human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Downturned corners of mouth human_phenotype_ontology_hp_0000192_human_phenotype_ontology_hp_0002714_medgen_c1866195 Human_Phenotype_Ontology:HP:0000192,Human_Phenotype_Ontology:HP:0002714,MedGen:C1866195 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Distal myopathy mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Decreased fetal movement human_phenotype_ontology_hp_0001558_human_phenotype_ontology_hp_0001559_human_phenotype_ontology_hp_0006840_human_phenotype_ontology_hp_0007630_human_phenotype_ontology_hp_0007631_medgen_c0235659 Human_Phenotype_Ontology:HP:0001558,Human_Phenotype_Ontology:HP:0001559,Human_Phenotype_Ontology:HP:0006840,Human_Phenotype_Ontology:HP:0007630,Human_Phenotype_Ontology:HP:0007631,MedGen:C0235659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Cerebral cortical atrophy human_phenotype_ontology_hp_0002120_human_phenotype_ontology_hp_0006823_human_phenotype_ontology_hp_0006835_medgen_c4551583 Human_Phenotype_Ontology:HP:0002120,Human_Phenotype_Ontology:HP:0006823,Human_Phenotype_Ontology:HP:0006835,MedGen:C4551583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 BICD2-related Autosomal recessive Cohen Like syndrome bicd2_related_autosomal_recessive_cohen_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Autosomal dominant hereditary axonal motor and sensory neuropathy medgen_c5680676_orphanet_140456 MedGen:C5680676,Orphanet:140456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICD2 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICC1 Renal agenesis human_phenotype_ontology_hp_0000104_human_phenotype_ontology_hp_0000785_human_phenotype_ontology_hp_0004745_human_phenotype_ontology_hp_0008680_mondo_mondo_0018470_medgen_c0542519_omim_ps191830_orphanet_411709 Human_Phenotype_Ontology:HP:0000104,Human_Phenotype_Ontology:HP:0000785,Human_Phenotype_Ontology:HP:0004745,Human_Phenotype_Ontology:HP:0008680,MONDO:MONDO:0018470,MedGen:C0542519,OMIM:PS191830,Orphanet:411709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BHLHA9 Camptosynpolydactyly, complex mondo_mondo_0011853_medgen_c1843758_omim_607539 MONDO:MONDO:0011853,MedGen:C1843758,OMIM:607539 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BGN Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BGN Familial aortopathy familial_aortopathy MedGen:CN078214 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 Nystagmus human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 Cataract human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 BFSP2-related disorder bfsp2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP2 Abnormal thorax morphology human_phenotype_ontology_hp_0000765_human_phenotype_ontology_hp_0100655_medgen_c4021797 Human_Phenotype_Ontology:HP:0000765,Human_Phenotype_Ontology:HP:0100655,MedGen:C4021797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BFSP1 Developmental cataract human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Vitelliform macular dystrophy 1 mondo_mondo_0007933_medgen_c4551953_omim_153840_orphanet_99000 MONDO:MONDO:0007933,MedGen:C4551953,OMIM:153840,Orphanet:99000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Severe early-childhood-onset retinal dystrophy mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 mondo_mondo_0800296_medgen_c5435648 MONDO:MONDO:0800296,MedGen:C5435648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BDP1 Deafness medgen_c0011053 MedGen:C0011053 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BDNF Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BDNF Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Sparse hair human_phenotype_ontology_hp_0002237_human_phenotype_ontology_hp_0002291_human_phenotype_ontology_hp_0004522_human_phenotype_ontology_hp_0004538_human_phenotype_ontology_hp_0008070_medgen_c5551005 Human_Phenotype_Ontology:HP:0002237,Human_Phenotype_Ontology:HP:0002291,Human_Phenotype_Ontology:HP:0004522,Human_Phenotype_Ontology:HP:0004538,Human_Phenotype_Ontology:HP:0008070,MedGen:C5551005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Neonatal encephalopathy medgen_c0235820 MedGen:C0235820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Movement disorder human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Autosomal recessive BCS1L-related disorders autosomal_recessive_bcs1l_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCORL1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCORL1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCORL1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR X-linked BCOR-related disorders x_linked_bcor_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR Oculofaciocardiodental syndrome (OFCD) oculofaciocardiodental_syndrome_ofcd . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR Isolated anophthalmia-microphthalmia syndrome mondo_mondo_0016764_medgen_c5679828_orphanet_2542 MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR Glioblastoma mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11B Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11B Combined immunodeficiency human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11B Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Postaxial polydactyly human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A BCL11A-related disorder bcl11a_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 T-cell acute lymphoblastic leukemia human_phenotype_ontology_hp_0006727_mondo_mondo_0004963_medgen_c1961099 Human_Phenotype_Ontology:HP:0006727,MONDO:MONDO:0004963,MedGen:C1961099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 Sezary syndrome mondo_mondo_0017844_medgen_c0036920_orphanet_3162 MONDO:MONDO:0017844,MedGen:C0036920,Orphanet:3162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 Malignant tumor of testis mondo_mondo_0005447_medgen_c0153594 MONDO:MONDO:0005447,MedGen:C0153594 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL10 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDK Maple syrup urine disease type 1A mondo_mondo_0023691_medgen_c1855369_omim_248600 MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDK Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHB Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHA Likely inborn error of metabolism likely_inborn_error_of_metabolism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHA BCKDHA-related disorder bckdha_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCHE Postanesthetic apnea medgen_c1867468 MedGen:C1867468 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCHE Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type medgen_c1867469 MedGen:C1867469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCHE BCHE, H variant bche_h_variant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCHE Autosomal recessive BCHE-related disorders autosomal_recessive_bche_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAS3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAR1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAP31 BCAP31-related disorder bcap31_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCAM BLOOD GROUP--LUTHERAN SYSTEM medgen_c0024171_omim_111200 MedGen:C0024171,OMIM:111200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Retinal vascular dystrophy retinal_vascular_dystrophy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Nephronophthisis 4 mondo_mondo_0011752_medgen_c1847013_omim_606966_orphanet_655 MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 Bardet-Biedl syndrome 1/7, digenic medgen_c4016435 MedGen:C4016435 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS5 Early onset severe obesity medgen_c4013980 MedGen:C4013980 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS5 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS4 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Bardet-biedl syndrome 2/4, digenic medgen_c4016956 MedGen:C4016956 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Polydactyly, postaxial, type A1 mondo_mondo_0008266_medgen_c4282400_omim_174200 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Inability to walk human_phenotype_ontology_hp_0002540_medgen_c0560046 Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Abnormal cardiovascular system morphology human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Postaxial hand polydactyly human_phenotype_ontology_hp_0001162_human_phenotype_ontology_hp_0004698_human_phenotype_ontology_hp_0005763_human_phenotype_ontology_hp_0009984_mondo_mondo_0017426_medgen_c0431904 Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Macular degeneration human_phenotype_ontology_hp_0000608_human_phenotype_ontology_hp_0007694_mondo_mondo_0003004_medgen_c0024437 Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 High-frequency hearing impairment human_phenotype_ontology_hp_0005101_human_phenotype_ontology_hp_0008522_human_phenotype_ontology_hp_0008584_human_phenotype_ontology_hp_0008597_medgen_c0018780 Human_Phenotype_Ontology:HP:0005101,Human_Phenotype_Ontology:HP:0008522,Human_Phenotype_Ontology:HP:0008584,Human_Phenotype_Ontology:HP:0008597,MedGen:C0018780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Foot polydactyly human_phenotype_ontology_hp_0001829_human_phenotype_ontology_hp_0009135_medgen_c0158734 Human_Phenotype_Ontology:HP:0001829,Human_Phenotype_Ontology:HP:0009135,MedGen:C0158734 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Bardet-biedl syndrome 6/10, digenic medgen_c4017660 MedGen:C4017660 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Bardet-biedl syndrome 1/10, digenic medgen_c4017206 MedGen:C4017206 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 Severe early-childhood-onset retinal dystrophy mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBOF1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Specific learning disability human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Round face human_phenotype_ontology_hp_0000304_human_phenotype_ontology_hp_0000311_human_phenotype_ontology_hp_0004653_medgen_c0239479 Human_Phenotype_Ontology:HP:0000304,Human_Phenotype_Ontology:HP:0000311,Human_Phenotype_Ontology:HP:0004653,MedGen:C0239479 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Rod-cone dystrophy human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Postaxial hand polydactyly human_phenotype_ontology_hp_0001162_human_phenotype_ontology_hp_0004698_human_phenotype_ontology_hp_0005763_human_phenotype_ontology_hp_0009984_mondo_mondo_0017426_medgen_c0431904 Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Obesity human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Narrow forehead human_phenotype_ontology_hp_0000314_human_phenotype_ontology_hp_0000341_human_phenotype_ontology_hp_0004674_human_phenotype_ontology_hp_0004677_medgen_c1839758 Human_Phenotype_Ontology:HP:0000314,Human_Phenotype_Ontology:HP:0000341,Human_Phenotype_Ontology:HP:0004674,Human_Phenotype_Ontology:HP:0004677,MedGen:C1839758 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Micropenis human_phenotype_ontology_hp_0000038_human_phenotype_ontology_hp_0000054_medgen_c4551492 Human_Phenotype_Ontology:HP:0000038,Human_Phenotype_Ontology:HP:0000054,MedGen:C4551492 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Flat nasal alae human_phenotype_ontology_hp_0010649_medgen_c4023759 Human_Phenotype_Ontology:HP:0010649,MedGen:C4023759 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Downslanted palpebral fissures human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Bardet-Biedl syndrome 18 mondo_mondo_0014446_medgen_c3806174_omim_615995_orphanet_110 MONDO:MONDO:0014446,MedGen:C3806174,OMIM:615995,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBIP1 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAZ2B BAZ2B-associated neurodevelopmental disorder baz2b_associated_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAZ1A VATER/VACTERL association with CNS malformations vater_vacterl_association_with_cns_malformations . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAX Developmental and epileptic encephalopathy, 5 mondo_mondo_0013277_medgen_c3150731_omim_613477_orphanet_3451 MONDO:MONDO:0013277,MedGen:C3150731,OMIM:613477,Orphanet:3451 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAX Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Breast neoplasm human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Breast cancer, susceptibility to medgen_c3469522 MedGen:C3469522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Autosomal dominant BARD1-related disorders autosomal_dominant_bard1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 Uveal melanoma human_phenotype_ontology_hp_0007716_mondo_mondo_0006486_medgen_c0220633_omim_155720_orphanet_39044 Human_Phenotype_Ontology:HP:0007716,MONDO:MONDO:0006486,MedGen:C0220633,OMIM:155720,Orphanet:39044 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 Familial melanoma mondo_mondo_0018961_medgen_c1512419_orphanet_618 MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 BAP1-related disorder bap1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 BAP1 Cancer Syndrome bap1_cancer_syndrome MedGen:CN235077 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAP1 Astrocytoma human_phenotype_ontology_hp_0009592_mondo_mondo_0019781_mesh_d001254_medgen_c0004114 Human_Phenotype_Ontology:HP:0009592,MONDO:MONDO:0019781,MeSH:D001254,MedGen:C0004114 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG5 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Neuronopathy, distal hereditary motor, autosomal dominant 15 mondo_mondo_0976226_medgen_c5975628_omim_621094 MONDO:MONDO:0976226,MedGen:C5975628,OMIM:621094 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BACH2 Immunodeficiency 60 mondo_mondo_0032723_medgen_c5193072_omim_618394 MONDO:MONDO:0032723,MedGen:C5193072,OMIM:618394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAAT BAAT-related disorder baat_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D2 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D1 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B9D1 B9D1-related disorder b9d1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GAT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT7 Lethal skeletal dysplasia human_phenotype_ontology_hp_0005716_human_phenotype_ontology_hp_0008898_medgen_c4021626 Human_Phenotype_Ontology:HP:0005716,Human_Phenotype_Ontology:HP:0008898,MedGen:C4021626 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT7 Larsen-like syndrome, B3GAT3 type mondo_mondo_0009511_medgen_c3278404_omim_245600_orphanet_284139 MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT3 Variegate porphyria mondo_mondo_0008297_medgen_c0162532_omim_176200_orphanet_79473 MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT1 Combined low LDL and fibrinogen mondo_mondo_0957260_medgen_c5830484_omim_620364 MONDO:MONDO:0957260,MedGen:C5830484,OMIM:620364 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALNT3 Susceptibility to severe COVID-19 susceptibility_to_severe_covid_19 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALNT1 Spastic paraparesis human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GNT6 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GNT4 Autosomal dominant nonsyndromic hearing loss 64 mondo_mondo_0013593_medgen_c3279948_omim_614152_orphanet_90635 MONDO:MONDO:0013593,MedGen:C3279948,OMIM:614152,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 Spondyloepiphyseal dysplasia human_phenotype_ontology_hp_0002655_human_phenotype_ontology_hp_0002776_human_phenotype_ontology_hp_0005893_mondo_mondo_0016761_medgen_c0038015_orphanet_253 Human_Phenotype_Ontology:HP:0002655,Human_Phenotype_Ontology:HP:0002776,Human_Phenotype_Ontology:HP:0005893,MONDO:MONDO:0016761,MedGen:C0038015,Orphanet:253 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 B3GALT6-congenital disorder of glycosylation mondo_mondo_0100586_medgen_cn379144 MONDO:MONDO:0100586,MedGen:CN379144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALNT2 Muscular dystrophy-dystroglycanopathy mondo_mondo_0018276_medgen_c5679911_orphanet_370953 MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALNT2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B2M Non-Hodgkin lymphoma human_phenotype_ontology_hp_0012539_mondo_mondo_0018908_medgen_c0024305_orphanet_547 Human_Phenotype_Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence B2M Amyloidosis, hereditary systemic 6 mondo_mondo_0971010_medgen_c5935573_omim_620659 MONDO:MONDO:0971010,MedGen:C5935573,OMIM:620659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXL NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 Oligodontia human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 Non-syndromic oligodontia non_syndromic_oligodontia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 Ectodermal dysplasia human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN1 Hepatocellular carcinoma human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Nephrotic range proteinuria human_phenotype_ontology_hp_0012593_medgen_c0445118 Human_Phenotype_Ontology:HP:0012593,MedGen:C0445118 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Focal segmental glomerulosclerosis human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Chronic kidney disease human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVP Diabetes insipidus, neurohypophyseal, autosomal recessive medgen_c4016430 MedGen:C4016430 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVIL Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Pierre Robin-like syndrome pierre_robin_like_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Multiple congenital anomalies medgen_c0000772 MedGen:C0000772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Intellectual disability, autosomal dominant 57 mondo_mondo_0054837_medgen_c4748003_omim_618050 MONDO:MONDO:0054837,MedGen:C4748003,OMIM:618050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 AUTS2-related neurodevelopmental disorder auts2_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AURKC Male infertility with spermatogenesis disorder medgen_c5681167_orphanet_399775 MedGen:C5681167,Orphanet:399775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AURKC Macrozoospermia human_phenotype_ontology_hp_0025437_medgen_c4476776 Human_Phenotype_Ontology:HP:0025437,MedGen:C4476776 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AURKB NK-cell enteropathy mondo_mondo_0016996_medgen_c4509932_orphanet_263665 MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AURKA Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUH AUH-related disorder auh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUH 3-Methylglutaconic aciduria human_phenotype_ontology_hp_0003535_mondo_mondo_0017359_medgen_c3696376_omim_ps250950_orphanet_289902 Human_Phenotype_Ontology:HP:0003535,MONDO:MONDO:0017359,MedGen:C3696376,OMIM:PS250950,Orphanet:289902 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATXN7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATXN7 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATXN7 Spinocerebellar ataxia 7 mondo_mondo_0016163_medgen_c0752125_omim_164500_orphanet_208508_orphanet_94147 MONDO:MONDO:0016163,MedGen:C0752125,OMIM:164500,Orphanet:208508,Orphanet:94147 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATXN3 Azorean disease mondo_mondo_0007182_medgen_c0024408_omim_109150_orphanet_98757 MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATXN2 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATXN2 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATXN10 Spinocerebellar ataxia type 10 mondo_mondo_0011330_medgen_c1963674_omim_603516_orphanet_98761 MONDO:MONDO:0011330,MedGen:C1963674,OMIM:603516,Orphanet:98761 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX X-linked ATRX-related disorders x_linked_atrx_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Renier-Gabreels-Jasper syndrome renier_gabreels_jasper_syndrome MedGen:CN282407 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Psychomotor deterioration human_phenotype_ontology_hp_0002361_medgen_c1836842 Human_Phenotype_Ontology:HP:0002361,MedGen:C1836842 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Low-set, posteriorly rotated ears human_phenotype_ontology_hp_0000368_medgen_c1857486 Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Drooling human_phenotype_ontology_hp_0002307_medgen_c0013132 Human_Phenotype_Ontology:HP:0002307,MedGen:C0013132 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Alpha-thalassemia/intellectual disability syndrome medgen_c0475813 MedGen:C0475813 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Thrombotic microangiopathy mondo_mondo_0019737_mesh_d057049_medgen_c2717961_orphanet_93573 MONDO:MONDO:0019737,MeSH:D057049,MedGen:C2717961,Orphanet:93573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Systemic lupus erythematosus, susceptibility to medgen_c3862275 MedGen:C3862275 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Seckel syndrome mondo_mondo_0019342_medgen_c0265202_omim_ps210600_orphanet_324761_orphanet_808 MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:324761,Orphanet:808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy mondo_mondo_0007432_medgen_c0751587_omim_ps125310 MONDO:MONDO:0007432,MedGen:C0751587,OMIM:PS125310 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Aicardi Goutieres syndrome mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Adult onset neurodegenerative disorder adult_onset_neurodegenerative_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATR Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATR Cornelia de Lange syndrome 1 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATR ATR-related disorder atr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATPAF2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mondo_mondo_0011421_medgen_c3276276_omim_604273_orphanet_254913 MONDO:MONDO:0011421,MedGen:C3276276,OMIM:604273,Orphanet:254913 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8A2 Dysequilibrium syndrome mondo_mondo_0009133_medgen_c0394006_omim_ps224050_orphanet_1766 MONDO:MONDO:0009133,MedGen:C0394006,OMIM:PS224050,Orphanet:1766 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8A2 ATP8A2-related disorder atp8a2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8A1 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Kayser-Fleischer ring human_phenotype_ontology_hp_0200032_medgen_c0152457 Human_Phenotype_Ontology:HP:0200032,MedGen:C0152457 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Intellectual disability, Wolff type mondo_mondo_0010203_medgen_c1848439_omim_277990_orphanet_3080 MONDO:MONDO:0010203,MedGen:C1848439,OMIM:277990,Orphanet:3080 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Hearing loss, autosomal recessive 109 mondo_mondo_0033202_medgen_c4693935_omim_618013 MONDO:MONDO:0033202,MedGen:C4693935,OMIM:618013 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Hand tremor human_phenotype_ontology_hp_0002378_medgen_c0239842 Human_Phenotype_Ontology:HP:0002378,MedGen:C0239842 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Developmental and epileptic encephalopathy 93 mondo_mondo_0020632_medgen_c4693934_omim_618012 MONDO:MONDO:0020632,MedGen:C4693934,OMIM:618012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Breast-ovarian cancer, familial, susceptibility to, 5 mondo_mondo_0957530_medgen_c5830615_omim_620442 MONDO:MONDO:0957530,MedGen:C5830615,OMIM:620442 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7A Menkes disease, copper-replacement responsive medgen_c4016447 MedGen:C4016447 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7A Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1E1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1E1 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1E1 Autosomal recessive cutis laxa type 2C mondo_mondo_0027462_medgen_c4479387_omim_617402 MONDO:MONDO:0027462,MedGen:C4479387,OMIM:617402 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1C2 Distal renal tubular acidosis human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1C1 DOORS syndrome mondo_mondo_0009079_medgen_c0795934_omim_220500_orphanet_3231_orphanet_79500 MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500,Orphanet:3231,Orphanet:79500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B2 Zimmermann-Laband syndrome with epileptic encephalopathy zimmermann_laband_syndrome_with_epileptic_encephalopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B2 Zimmermann-Laband syndrome 1 mondo_mondo_0024526_medgen_c4551773_omim_135500_orphanet_3473 MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500,Orphanet:3473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B2 ATP6V1B2 related neurodevelopmental disorders atp6v1b2_related_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Urogenital tract malformation human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss mondo_mondo_0011268_medgen_c5399980_omim_602722 MONDO:MONDO:0011268,MedGen:C5399980,OMIM:602722 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Renal tubular acidosis human_phenotype_ontology_hp_0001947_mondo_mondo_0001909_medgen_c0001126 Human_Phenotype_Ontology:HP:0001947,MONDO:MONDO:0001909,MedGen:C0001126 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Polydactyly, postaxial, type A1 mondo_mondo_0008266_medgen_c4282400_omim_174200 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Nephrolithiasis human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1A Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1A Encephalopathy human_phenotype_ontology_hp_0001298_medgen_c0085584 Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1A Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0C Childhood-onset epilepsy syndrome mondo_mondo_0020072_medgen_c5681526_orphanet_98259 MONDO:MONDO:0020072,MedGen:C5681526,Orphanet:98259 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A4 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A2 Autosomal recessive cutis laxa type 2, classic type mondo_mondo_0009054_medgen_c5679922_orphanet_357074 MONDO:MONDO:0009054,MedGen:C5679922,Orphanet:357074 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6AP2 X-linked parkinsonism-spasticity syndrome mondo_mondo_0010482_medgen_c3806722_omim_300911_orphanet_363654 MONDO:MONDO:0010482,MedGen:C3806722,OMIM:300911,Orphanet:363654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6AP2 Congenital disorder of glycosylation, type IIr mondo_mondo_0026765_medgen_c5393313_omim_301045 MONDO:MONDO:0026765,MedGen:C5393313,OMIM:301045 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6AP1 Non-syndromic X-linked intellectual disability mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5PO Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5PO ATP5PO-related disorder atp5po_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5ME condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5ME Tyrosinase-positive oculocutaneous albinism mondo_mondo_0008746_medgen_c0268495_omim_203200_orphanet_79432 MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5ME Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5ME Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5MC3 ATP5G3-associated disorder atp5g3_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1E Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 mondo_mondo_0013547_medgen_c3279708_omim_614053_orphanet_254913 MONDO:MONDO:0013547,MedGen:C3279708,OMIM:614053,Orphanet:254913 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1D Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1D Decreased activity of mitochondrial ATP synthase complex human_phenotype_ontology_hp_0011925_medgen_c4023125 Human_Phenotype_Ontology:HP:0011925,MedGen:C4023125 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1B Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 mondo_mondo_0859302_medgen_c5774237_omim_620085 MONDO:MONDO:0859302,MedGen:C5774237,OMIM:620085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1B Hypermetabolism due to Defect in Mitochondrial Coupling hypermetabolism_due_to_defect_in_mitochondrial_coupling . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1A Lactic acidosis human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP5F1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Oral-pharyngeal dysphagia human_phenotype_ontology_hp_0200136_medgen_c0267071 Human_Phenotype_Ontology:HP:0200136,MedGen:C0267071 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Muscular atrophy human_phenotype_ontology_hp_0001299_human_phenotype_ontology_hp_0003202_human_phenotype_ontology_hp_0003545_human_phenotype_ontology_hp_0003671_human_phenotype_ontology_hp_0003702_human_phenotype_ontology_hp_0003746_human_phenotype_ontology_hp_0006995_human_phenotype_ontology_hp_0007171_human_phenotype_ontology_hp_0007356_human_phenotype_ontology_hp_0009010_human_phenotype_ontology_hp_0009048_human_phenotype_ontology_hp_0100868_mondo_mondo_0004323_medgen_c0541794 Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Carious teeth human_phenotype_ontology_hp_0000670_human_phenotype_ontology_hp_0006295_human_phenotype_ontology_hp_0006306_mondo_mondo_0005276_medgen_c0011334 Human_Phenotype_Ontology:HP:0000670,Human_Phenotype_Ontology:HP:0006295,Human_Phenotype_Ontology:HP:0006306,MONDO:MONDO:0005276,MedGen:C0011334 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B3 Abnormal cerebral cortex morphology human_phenotype_ontology_hp_0002538_medgen_c4025701 Human_Phenotype_Ontology:HP:0002538,MedGen:C4025701 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B2 Autosomal dominant nonsyndromic hearing loss mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Intellectual disability, autosomal dominant 30 mondo_mondo_0014486_medgen_c4015167_omim_616083_orphanet_436151_orphanet_694304 MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083,Orphanet:436151,Orphanet:694304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2B1 ATP2B1-related disorder atp2b1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Undetermined early-onset epileptic encephalopathy mondo_mondo_0018614_medgen_c5680057_orphanet_442835 MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Tetraparesis human_phenotype_ontology_hp_0002273_human_phenotype_ontology_hp_0002338_medgen_c0270790 Human_Phenotype_Ontology:HP:0002273,Human_Phenotype_Ontology:HP:0002338,MedGen:C0270790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Seizures, benign familial neonatal, 1 mondo_mondo_0007365_medgen_c3149074_omim_121200_orphanet_1949 MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200,Orphanet:1949 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Juvenile onset psychosis juvenile_onset_psychosis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Dyskinesia human_phenotype_ontology_hp_0100660_medgen_c0013384 Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Depressed nasal bridge human_phenotype_ontology_hp_0000425_human_phenotype_ontology_hp_0000428_human_phenotype_ontology_hp_0000439_human_phenotype_ontology_hp_0000459_human_phenotype_ontology_hp_0004413_human_phenotype_ontology_hp_0004505_human_phenotype_ontology_hp_0004506_human_phenotype_ontology_hp_0004666_human_phenotype_ontology_hp_0005119_human_phenotype_ontology_hp_0005280_human_phenotype_ontology_hp_0005284_medgen_c1836542 Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Apnea human_phenotype_ontology_hp_0002104_human_phenotype_ontology_hp_0005936_human_phenotype_ontology_hp_0005958_medgen_c0003578 Human_Phenotype_Ontology:HP:0002104,Human_Phenotype_Ontology:HP:0005936,Human_Phenotype_Ontology:HP:0005958,MedGen:C0003578 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Abnormal earlobe morphology human_phenotype_ontology_hp_0000363_medgen_c4021808 Human_Phenotype_Ontology:HP:0000363,MedGen:C4021808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Migraine, familial basilar medgen_c1865323 MedGen:C1865323 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Hemiplegic migraine-developmental and epileptic encephalopathy spectrum mondo_mondo_0100539_medgen_cn377181 MONDO:MONDO:0100539,MedGen:CN377181 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Hemiplegia human_phenotype_ontology_hp_0002301_mondo_mondo_0001170_medgen_c0018991 Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Alternating hemiplegia of childhood mondo_mondo_0016241_medgen_c0338488_omim_ps104290_orphanet_2131 MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A1 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A2 ATP13A2-related disorder atp13a2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP11A Leukodystrophy, hypomyelinating, 24 mondo_mondo_0859242_medgen_c5676974_omim_619851 MONDO:MONDO:0859242,MedGen:C5676974,OMIM:619851 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP11A Autosomal dominant nonsyndromic hearing loss 33 mondo_mondo_0013632_medgen_c3887930_omim_614211_orphanet_90635 MONDO:MONDO:0013632,MedGen:C3887930,OMIM:614211,Orphanet:90635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP11A Auditory neuropathy, autosomal dominant 2 mondo_mondo_0957279_medgen_c5830542_omim_620384 MONDO:MONDO:0957279,MedGen:C5830542,OMIM:620384 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATOH7 Optic nerve hypoplasia human_phenotype_ontology_hp_0000609_human_phenotype_ontology_hp_0007273_medgen_c0338502 Human_Phenotype_Ontology:HP:0000609,Human_Phenotype_Ontology:HP:0007273,MedGen:C0338502 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATOH7 Foveal hypoplasia human_phenotype_ontology_hp_0007750_mondo_mondo_0044203_medgen_c2673946_omim_ps136520 Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATOH1 Hearing loss, autosomal dominant 89 mondo_mondo_0859528_medgen_c5830357_omim_620284 MONDO:MONDO:0859528,MedGen:C5830357,OMIM:620284 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATOH1 Dominant progressive sensorineural hearing loss dominant_progressive_sensorineural_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATN1 Dentatorubral-pallidoluysian atrophy mondo_mondo_0007435_medgen_c0751781_omim_125370_orphanet_101 MONDO:MONDO:0007435,MedGen:C0751781,OMIM:125370,Orphanet:101 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Uterine corpus cancer mondo_mondo_0006003_medgen_cn277893 MONDO:MONDO:0006003,MedGen:CN277893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Prostate cancer susceptibility medgen_c3469524 MedGen:C3469524 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Prostate cancer human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Papillary renal cell carcinoma type 1 human_phenotype_ontology_hp_0011797_medgen_c1336839_omim_605074_orphanet_47044 Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Pancreatic Cancer Susceptibility 4 pancreatic_cancer_susceptibility_4 MedGen:CN229775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Ovarian carcinoma human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Ovarian cancer, susceptibility to, 1 mondo_mondo_0011931_medgen_c2675601_omim_607893 MONDO:MONDO:0011931,MedGen:C2675601,OMIM:607893 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Oculomotor apraxia human_phenotype_ontology_hp_0000628_human_phenotype_ontology_hp_0000657_human_phenotype_ontology_hp_0007764_medgen_c3489733 Human_Phenotype_Ontology:HP:0000628,Human_Phenotype_Ontology:HP:0000657,Human_Phenotype_Ontology:HP:0007764,MedGen:C3489733 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM NICE approved PARP inhibitor treatment nice_approved_parp_inhibitor_treatment . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Malignant tumor of pancreas mondo_mondo_0009831_medgen_c0346647 MONDO:MONDO:0009831,MedGen:C0346647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Malignant glioma mondo_mondo_0100342_medgen_c0555198 MONDO:MONDO:0100342,MedGen:C0555198 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Lynch syndrome 1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Koolen-de Vries syndrome mondo_mondo_0012496_medgen_c1864871_omim_610443_orphanet_96169 MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Immunodeficiency human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Hereditary cancer medgen_c1333600 MedGen:C1333600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Glioblastoma mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Conjunctival telangiectasia human_phenotype_ontology_hp_0000524_medgen_c0239105 Human_Phenotype_Ontology:HP:0000524,MedGen:C0239105 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Colonic neoplasm human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Colon cancer human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Clear cell carcinoma of kidney human_phenotype_ontology_hp_0006770_mondo_mondo_0005005_medgen_c0279702_orphanet_319276 Human_Phenotype_Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702,Orphanet:319276 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Cardiac valvular dysplasia, X-linked mondo_mondo_0010753_medgen_c0262436_omim_314400_orphanet_1864_orphanet_555877_orphanet_75497 MONDO:MONDO:0010753,MedGen:C0262436,OMIM:314400,Orphanet:1864,Orphanet:555877,Orphanet:75497 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Breast cancer, familial male medgen_c1861906 MedGen:C1861906 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM Adenocarcinoma mondo_mondo_0004970_medgen_c0001418 MONDO:MONDO:0004970,MedGen:C0001418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATM ATM-related cancer predisposition syndrome atm_related_cancer_predisposition_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Penetrating foot ulcers human_phenotype_ontology_hp_0001026_medgen_c4025809 Human_Phenotype_Ontology:HP:0001026,MedGen:C4025809 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Osteomyelitis leading to amputation due to slow healing fractures human_phenotype_ontology_hp_0005010_medgen_c1864975 Human_Phenotype_Ontology:HP:0005010,MedGen:C1864975 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Distal sensory impairment human_phenotype_ontology_hp_0002936_human_phenotype_ontology_hp_0003476_human_phenotype_ontology_hp_0006843_human_phenotype_ontology_hp_0006845_human_phenotype_ontology_hp_0006922_human_phenotype_ontology_hp_0006971_human_phenotype_ontology_hp_0006993_human_phenotype_ontology_hp_0007138_human_phenotype_ontology_hp_0007292_human_phenotype_ontology_hp_0007296_medgen_c1847584 Human_Phenotype_Ontology:HP:0002936,Human_Phenotype_Ontology:HP:0003476,Human_Phenotype_Ontology:HP:0006843,Human_Phenotype_Ontology:HP:0006845,Human_Phenotype_Ontology:HP:0006922,Human_Phenotype_Ontology:HP:0006971,Human_Phenotype_Ontology:HP:0006993,Human_Phenotype_Ontology:HP:0007138,Human_Phenotype_Ontology:HP:0007292,Human_Phenotype_Ontology:HP:0007296,MedGen:C1847584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Distal lower limb muscle weakness human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Accessory ectopic thyroid tissue human_phenotype_ontology_hp_0100030_medgen_c4022385 Human_Phenotype_Ontology:HP:0100030,MedGen:C4022385 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 ATL1-related spastic paraplegia, recessive atl1_related_spastic_paraplegia_recessive . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATIC Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATIC Glomerulopathy with fibronectin deposits 2 mondo_mondo_0011165_medgen_c1866075_omim_601894_orphanet_84090 MONDO:MONDO:0011165,MedGen:C1866075,OMIM:601894,Orphanet:84090 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATG9B Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATG4D condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATG4D ASHER asher MedGen:CN300930 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATF6 Macular dystrophy human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATF6 ATF6-related disorder atf6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATAD3A Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATAD3A ATAD3A-related mitochondrial disorders atad3a_related_mitochondrial_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATAD3A ATAD3A deficiency atad3a_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Syndromic intellectual disability mondo_mondo_0000508_medgen_c5680525_orphanet_183763 MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Sleep disturbance human_phenotype_ontology_hp_0002360_medgen_c0037317 Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Rare syndromic intellectual disability medgen_c5681780_orphanet_102369 MedGen:C5681780,Orphanet:102369 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Marfanoid habitus and intellectual disability marfanoid_habitus_and_intellectual_disability MedGen:CN263130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Language retardation language_retardation MedGen:CN239860 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Gastrostomy tube feeding in infancy human_phenotype_ontology_hp_0011471_medgen_c4023342 Human_Phenotype_Ontology:HP:0011471,MedGen:C4023342 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Decreased head circumference human_phenotype_ontology_hp_0040195_medgen_c0424688 Human_Phenotype_Ontology:HP:0040195,MedGen:C0424688 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Decreased activity of mitochondrial complex I human_phenotype_ontology_hp_0011923_medgen_c2677650 Human_Phenotype_Ontology:HP:0011923,MedGen:C2677650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Atypical behavior human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Absent speech human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 dystrophia dystrophia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Small for gestational age human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Severe intellectual disability human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Prominent metopic ridge human_phenotype_ontology_hp_0005487_human_phenotype_ontology_hp_0005488_human_phenotype_ontology_hp_0005751_medgen_c1857949 Human_Phenotype_Ontology:HP:0005487,Human_Phenotype_Ontology:HP:0005488,Human_Phenotype_Ontology:HP:0005751,MedGen:C1857949 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Myelodysplasia human_phenotype_ontology_hp_0002863_human_phenotype_ontology_hp_0004832_human_phenotype_ontology_hp_0006730_medgen_c0026985 Human_Phenotype_Ontology:HP:0002863,Human_Phenotype_Ontology:HP:0004832,Human_Phenotype_Ontology:HP:0006730,MedGen:C0026985 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Juvenile myelomonocytic leukemia human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Hypertrichosis human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Glabellar hemangioma human_phenotype_ontology_hp_0001076_medgen_c1854408 Human_Phenotype_Ontology:HP:0001076,MedGen:C1854408 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Developmental delay medgen_c0424605 MedGen:C0424605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Delayed gross motor development human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Cafe-au-lait spot human_phenotype_ontology_hp_0000957_human_phenotype_ontology_hp_0005601_human_phenotype_ontology_hp_0007454_medgen_c0221263 Human_Phenotype_Ontology:HP:0000957,Human_Phenotype_Ontology:HP:0005601,Human_Phenotype_Ontology:HP:0007454,MedGen:C0221263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Atypical chronic myeloid leukemia, BCR-ABL1 negative mondo_mondo_0004653_medgen_c1292772_orphanet_98824 MONDO:MONDO:0004653,MedGen:C1292772,Orphanet:98824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Abnormal corpus callosum morphology human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Myopathy human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Limb-girdle muscular dystrophy human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Elevated circulating creatine kinase concentration human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Autosomal recessive TRIM32-related disorders autosomal_recessive_trim32_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN1 condition not provided condition_not_provided MedGen:CN169374 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTL Oocyte maturation defect 11 mondo_mondo_0030490_medgen_c5562033_omim_619643 MONDO:MONDO:0030490,MedGen:C5562033,OMIM:619643 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 Glycogen storage disease due to glucose-6-phosphatase deficiency type IA mondo_mondo_0009287_medgen_c2919796_omim_232200_orphanet_364_orphanet_79258 MONDO:MONDO:0009287,MedGen:C2919796,OMIM:232200,Orphanet:364,Orphanet:79258 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 Citrullinemia, type II, adult-onset mondo_mondo_0011326_medgen_cn295299_omim_603471_orphanet_247585 MONDO:MONDO:0011326,MedGen:CN295299,OMIM:603471,Orphanet:247585 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Lissencephaly human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPH Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPH Malignant hyperthermia of anesthesia human_phenotype_ontology_hp_0034733_mondo_mondo_0018493_medgen_c0024591_orphanet_423 Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPH Exercise-induced malignant hyperthermia mondo_mondo_0018752_medgen_c5700399_orphanet_466650 MONDO:MONDO:0018752,MedGen:C5700399,Orphanet:466650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPA Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPA Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASNS Spinocerebellar ataxia, autosomal recessive 29 mondo_mondo_0030312_medgen_c5543595_omim_619389 MONDO:MONDO:0030312,MedGen:C5543595,OMIM:619389 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASL Congenital myasthenic syndrome 4C mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASIC5 Pregnancy loss, recurrent, susceptibility to, 3 mondo_mondo_0013729_medgen_c3280674_omim_614391 MONDO:MONDO:0013729,MedGen:C3280674,OMIM:614391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASIC2 Mitochondrial DNA depletion syndrome 20 (mngie type) mondo_mondo_0030696_medgen_c5676934_omim_619780 MONDO:MONDO:0030696,MedGen:C5676934,OMIM:619780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASIC2 Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH2L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH2L Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH1L Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH1L Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH1L Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCL5 Teeth, odd shapes of mondo_mondo_0008530_medgen_c1861274 MONDO:MONDO:0008530,MedGen:C1861274 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCL5 LOBODONTIA medgen_c1861275_omim_187000 MedGen:C1861275,OMIM:187000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC3 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC3 ASCC3-related disorder ascc3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC1 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC1 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC1 Barrett esophagus human_phenotype_ontology_hp_0100580_mondo_mondo_0013662_medgen_c0004763_omim_614266_orphanet_99976 Human_Phenotype_Ontology:HP:0100580,MONDO:MONDO:0013662,MedGen:C0004763,OMIM:614266,Orphanet:99976 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASCC1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASAH1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASAH1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASAH1 Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX X-linked spasticity-intellectual disability-epilepsy syndrome mondo_mondo_0017856_medgen_c4510949_orphanet_3175 MONDO:MONDO:0017856,MedGen:C4510949,Orphanet:3175 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Ventriculomegaly human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Periventricular heterotopia human_phenotype_ontology_hp_0002272_human_phenotype_ontology_hp_0007165_medgen_c5399973 Human_Phenotype_Ontology:HP:0002272,Human_Phenotype_Ontology:HP:0007165,MedGen:C5399973 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Arachnoid cyst human_phenotype_ontology_hp_0100702_mondo_mondo_0008813_medgen_c0078981_orphanet_2356 Human_Phenotype_Ontology:HP:0100702,MONDO:MONDO:0008813,MedGen:C0078981,Orphanet:2356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Aicardi syndrome mondo_mondo_0010568_medgen_c0175713_omim_304050_orphanet_50 MONDO:MONDO:0010568,MedGen:C0175713,OMIM:304050,Orphanet:50 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Abnormal synaptic transmission human_phenotype_ontology_hp_0012535_medgen_c4021083 Human_Phenotype_Ontology:HP:0012535,MedGen:C4021083 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX ARX-related disorder arx_related_disorder MedGen:CN378769 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX ARX-associated condition arx_associated_condition . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARV1 Neurodegeneration human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARV1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARV1 Blindness human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARV1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARV1 ARV1-related disorder arv1_related_disorder MedGen:CN235539 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARV1 3-methylglutaconic aciduria, type VIIB mondo_mondo_0014561_medgen_c5676893_omim_616271_orphanet_445038 MONDO:MONDO:0014561,MedGen:C5676893,OMIM:616271,Orphanet:445038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSG Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 mondo_mondo_0030375_medgen_c5543623_omim_619418 MONDO:MONDO:0030375,MedGen:C5543623,OMIM:619418 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA METACHROMATIC LEUKODYSTROPHY, LATE-ONSET medgen_c4017093 MedGen:C4017093 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE medgen_c4017095 MedGen:C4017095 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE medgen_c4017096 MedGen:C4017096 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARPC1B Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARPC1B ARPC1B-related disorder arpc1b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARNT2 Gnb5-related intellectual disability-cardiac arrhythmia syndrome mondo_mondo_0014953_medgen_c5568877_omim_617173_orphanet_542306 MONDO:MONDO:0014953,MedGen:C5568877,OMIM:617173,Orphanet:542306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMS2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 mondo_mondo_0014768_medgen_c4225211_omim_616779 MONDO:MONDO:0014768,MedGen:C4225211,OMIM:616779 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC5 Macronodular adrenal hyperplasia human_phenotype_ontology_hp_0008231_medgen_c0342495 Human_Phenotype_Ontology:HP:0008231,MedGen:C0342495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia mondo_mondo_0009049_medgen_c2062388_omim_ps219080_orphanet_189427 MONDO:MONDO:0009049,MedGen:C2062388,OMIM:PS219080,Orphanet:189427 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC2 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC2 Abnormal sperm tail morphology human_phenotype_ontology_hp_0012868_medgen_c4022699 Human_Phenotype_Ontology:HP:0012868,MedGen:C4022699 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC2 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6IP6 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6IP1 ARL6IP1-related disorder arl6ip1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Bardet-Biedl syndrome 1, modifier of medgen_c2675305 MedGen:C2675305 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL3 Progressive cone degeneration human_phenotype_ontology_hp_0007789_human_phenotype_ontology_hp_0008020_medgen_c3665342 Human_Phenotype_Ontology:HP:0007789,Human_Phenotype_Ontology:HP:0008020,MedGen:C3665342 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL3 Joubert syndrome 35 mondo_mondo_0032570_medgen_c4748442_omim_618161 MONDO:MONDO:0032570,MedGen:C4748442,OMIM:618161 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL2BP ARL2BP-related disorder arl2bp_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL2 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 mondo_mondo_0033644_medgen_c5436769_omim_619082 MONDO:MONDO:0033644,MedGen:C5436769,OMIM:619082 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL16 Childhood-onset schizophrenia mondo_mondo_0957430_medgen_c0036346_orphanet_641496 MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL14EP condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL14EP Truncal obesity human_phenotype_ontology_hp_0001956_human_phenotype_ontology_hp_0008885_medgen_c4551560 Human_Phenotype_Ontology:HP:0001956,Human_Phenotype_Ontology:HP:0008885,MedGen:C4551560 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL14EP Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL14EP Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL14EP Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL13B Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL13B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARIH2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID4A Multiple myeloma human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 Desmoplastic/nodular medulloblastoma mondo_mondo_0016711_medgen_c0751291_orphanet_251863 MONDO:MONDO:0016711,MedGen:C0751291,Orphanet:251863 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 Chronic diarrhea human_phenotype_ontology_hp_0002028_mondo_mondo_0044751_medgen_c0401151 Human_Phenotype_Ontology:HP:0002028,MONDO:MONDO:0044751,MedGen:C0401151 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B dysmorphy dysmorphy MedGen:CN239859 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Wiedemann-Steiner syndrome mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Recurrent respiratory infections human_phenotype_ontology_hp_0002205_human_phenotype_ontology_hp_0002782_human_phenotype_ontology_hp_0002873_medgen_c3806482 Human_Phenotype_Ontology:HP:0002205,Human_Phenotype_Ontology:HP:0002782,Human_Phenotype_Ontology:HP:0002873,MedGen:C3806482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Nicolaides-Baraitser syndrome mondo_mondo_0011053_medgen_c1303073_omim_601358_orphanet_3051 MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Neonatal hypotonia human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Nail dysplasia human_phenotype_ontology_hp_0001793_human_phenotype_ontology_hp_0001794_human_phenotype_ontology_hp_0001797_human_phenotype_ontology_hp_0002164_human_phenotype_ontology_hp_0008387_human_phenotype_ontology_hp_0008403_human_phenotype_ontology_hp_0008409_human_phenotype_ontology_hp_0008412_medgen_c1834405 Human_Phenotype_Ontology:HP:0001793,Human_Phenotype_Ontology:HP:0001794,Human_Phenotype_Ontology:HP:0001797,Human_Phenotype_Ontology:HP:0002164,Human_Phenotype_Ontology:HP:0008387,Human_Phenotype_Ontology:HP:0008403,Human_Phenotype_Ontology:HP:0008409,Human_Phenotype_Ontology:HP:0008412,MedGen:C1834405 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Hirsutism human_phenotype_ontology_hp_0001007_medgen_c0019572 Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Failure to thrive human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Decreased body weight human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Constipation human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Bilateral cryptorchidism human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Autosomal dominant ARID1B-related disorders autosomal_dominant_arid1b_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Abnormal speech pattern human_phenotype_ontology_hp_0002167_medgen_c3687424 Human_Phenotype_Ontology:HP:0002167,MedGen:C3687424 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Septo-optic dysplasia sequence human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 ARHGEF9-related neurodevelopmental disorder arhgef9_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 ARHGEF9-related disorder arhgef9_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF26 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 mondo_mondo_0014141_medgen_c3809221_omim_615351 MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF25 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF2 Neurodevelopmental disorder with midbrain and hindbrain malformations mondo_mondo_0056797_medgen_c4479613_omim_617523 MONDO:MONDO:0056797,MedGen:C4479613,OMIM:617523 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF18 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF15 Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF10L Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP6 AMELX-related disorder amelx_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP5 Pulmonary artery atresia human_phenotype_ontology_hp_0004935_medgen_c0265908 Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP5 Martsolf syndrome 1 mondo_mondo_8000008_medgen_c5542298_omim_212720_orphanet_1387 MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720,Orphanet:1387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP4 Diabetes insipidus, nephrogenic, X-linked mondo_mondo_0010581_medgen_c1563705_omim_304800_orphanet_223 MONDO:MONDO:0010581,MedGen:C1563705,OMIM:304800,Orphanet:223 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP35 Unilateral microphthalmos human_phenotype_ontology_hp_0011480_medgen_c3640024 Human_Phenotype_Ontology:HP:0011480,MedGen:C3640024 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP35 Syndromic microphthalmia mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP35 Irido-corneo-trabecular dysgenesis human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP35 Bilateral microphthalmos human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP32 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP32 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP31 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP29 ARHGAP29-related disorder arhgap29_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP21 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGAP11A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARG1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF2 Periventricular laminar heterotopia human_phenotype_ontology_hp_0032389_medgen_c2678104 Human_Phenotype_Ontology:HP:0032389,MedGen:C2678104 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF2 Hydrocephalus human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Focal-onset seizure human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Delayed ability to walk human_phenotype_ontology_hp_0031936_medgen_c0241726 Human_Phenotype_Ontology:HP:0031936,MedGen:C0241726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Self-injurious behavior human_phenotype_ontology_hp_0100716_medgen_c0085271 Human_Phenotype_Ontology:HP:0100716,MedGen:C0085271 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Pectus excavatum human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Myopathic facies human_phenotype_ontology_hp_0002058_human_phenotype_ontology_hp_0004647_medgen_c0332615 Human_Phenotype_Ontology:HP:0002058,Human_Phenotype_Ontology:HP:0004647,MedGen:C0332615 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Motor delay human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Long neck human_phenotype_ontology_hp_0000472_medgen_c1839816 Human_Phenotype_Ontology:HP:0000472,MedGen:C1839816 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Long ear human_phenotype_ontology_hp_0400004_medgen_c1848657 Human_Phenotype_Ontology:HP:0400004,MedGen:C1848657 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Kyphosis human_phenotype_ontology_hp_0002769_human_phenotype_ontology_hp_0002808_human_phenotype_ontology_hp_0003314_medgen_c0022821 Human_Phenotype_Ontology:HP:0002769,Human_Phenotype_Ontology:HP:0002808,Human_Phenotype_Ontology:HP:0003314,MedGen:C0022821 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Heart, malformation of human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Delayed early-childhood social milestone development human_phenotype_ontology_hp_0012434_medgen_c4022906 Human_Phenotype_Ontology:HP:0012434,MedGen:C4022906 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Clinodactyly human_phenotype_ontology_hp_0030084_medgen_c4551485 Human_Phenotype_Ontology:HP:0030084,MedGen:C4551485 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Bifid uvula human_phenotype_ontology_hp_0000173_human_phenotype_ontology_hp_0000193_mondo_mondo_0008637_medgen_c4551488_omim_192100_orphanet_99771 Human_Phenotype_Ontology:HP:0000173,Human_Phenotype_Ontology:HP:0000193,MONDO:MONDO:0008637,MedGen:C4551488,OMIM:192100,Orphanet:99771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF3 Abnormality of the dentition human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARF1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARCN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Pure gonadal dysgenesis 46,XY mondo_mondo_0010765_medgen_c2936694_omim_ps400044_orphanet_242 MONDO:MONDO:0010765,MedGen:C2936694,OMIM:PS400044,Orphanet:242 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Male infertility with azoospermia or oligozoospermia due to single gene mutation medgen_c5681165_orphanet_399805 MedGen:C5681165,Orphanet:399805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Female external genitalia in individual with 46,XY karyotype human_phenotype_ontology_hp_0008719_human_phenotype_ontology_hp_0008730_medgen_c1848178 Human_Phenotype_Ontology:HP:0008719,Human_Phenotype_Ontology:HP:0008730,MedGen:C1848178 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Familial prostate cancer mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Complete androgen insensitivity syndrome mondo_mondo_0021023_medgen_c0936016_orphanet_99429 MONDO:MONDO:0021023,MedGen:C0936016,Orphanet:99429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Aplasia of the uterus human_phenotype_ontology_hp_0000151_medgen_c0425913 Human_Phenotype_Ontology:HP:0000151,MedGen:C0425913 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Androgen insensitivity, partial, with breast cancer medgen_c4016581 MedGen:C4016581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Absent pubic hair human_phenotype_ontology_hp_0002555_human_phenotype_ontology_hp_0004537_human_phenotype_ontology_hp_0004556_medgen_c1859391 Human_Phenotype_Ontology:HP:0002555,Human_Phenotype_Ontology:HP:0004537,Human_Phenotype_Ontology:HP:0004556,MedGen:C1859391 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AR Absent axillary hair human_phenotype_ontology_hp_0002221_human_phenotype_ontology_hp_0004549_medgen_c1859392 Human_Phenotype_Ontology:HP:0002221,Human_Phenotype_Ontology:HP:0004549,MedGen:C1859392 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP5 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP4 Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting mondo_mondo_0957534_medgen_c5830628_omim_620448 MONDO:MONDO:0957534,MedGen:C5830628,OMIM:620448 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP2 Diabetes insipidus human_phenotype_ontology_hp_0000873_mondo_mondo_0004782_medgen_c0011848 Human_Phenotype_Ontology:HP:0000873,MONDO:MONDO:0004782,MedGen:C0011848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP1 Colton-null phenotype medgen_c1862554 MedGen:C1862554 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP1 AQP1-related pulmonary hypertension aqp1_related_pulmonary_hypertension . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APTX Hereditary ataxia mondo_mondo_0100309_medgen_c0004138_orphanet_183518 MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APTX Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APTX APTX-related disorder aptx_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APRT APRT deficiency, Japanese type medgen_c0268121 MedGen:C0268121 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APPL1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APPL1 Maturity-onset diabetes of the young type 14 mondo_mondo_0014674_medgen_c4225299_omim_616511_orphanet_552 MONDO:MONDO:0014674,MedGen:C4225299,OMIM:616511,Orphanet:552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP Primary degenerative dementia of the Alzheimer type, presenile onset medgen_c5779573 MedGen:C5779573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT cerebral_amyloid_angiopathy_app_related_piedmont_variant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP ABetaA21G amyloidosis mondo_mondo_0017948_medgen_c3888307_orphanet_324718 MONDO:MONDO:0017948,MedGen:C3888307,Orphanet:324718 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP ABeta amyloidosis, dutch type mondo_mondo_0015033_medgen_c2931672_orphanet_100006 MONDO:MONDO:0015033,MedGen:C2931672,Orphanet:100006 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP ABeta amyloidosis, Italian type mondo_mondo_0017947_medgen_c3888308_orphanet_324713 MONDO:MONDO:0017947,MedGen:C3888308,Orphanet:324713 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP ABeta amyloidosis, Iowa type mondo_mondo_0017946_medgen_c3888309_orphanet_324708 MONDO:MONDO:0017946,MedGen:C3888309,Orphanet:324708 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APP ABeta amyloidosis, Arctic type mondo_mondo_0017949_medgen_c2751494_orphanet_324723 MONDO:MONDO:0017949,MedGen:C2751494,Orphanet:324723 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOO condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOO X-­linked recessive mitochondrial myopathy x_linked_recessive_mitochondrial_myopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOO Lactic acidosis human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOO Cognitive impairment and autistic features cognitive_impairment_and_autistic_features . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOH condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Hyperlipoproteinemia, type III, due to APOE2 medgen_c4479659 MedGen:C4479659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE HYPERLIPOPROTEINEMIA, TYPE IV/V, DUE TO APOE2-DUNEDIN hyperlipoproteinemia_type_iv_v_due_to_apoe2_dunedin . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) hyperlipoproteinemia_type_iii_associated_with_apoe3_washington . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 hyperlipoproteinemia_type_iii_and_atherosclerosis_associated_with_apoe5 . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Alzheimer disease 4 mondo_mondo_0011743_medgen_c1847200_omim_606889_orphanet_1020 MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Alzheimer disease 3 mondo_mondo_0011913_medgen_c1843013_omim_607822_orphanet_1020 MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822,Orphanet:1020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Alzheimer disease 2 mondo_mondo_0007089_medgen_c1863051_omim_104310_orphanet_1020 MONDO:MONDO:0007089,MedGen:C1863051,OMIM:104310,Orphanet:1020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Age related macular degeneration 1 mondo_mondo_0011285_medgen_c1864205_omim_603075 MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE Abnormal circulating lipid concentration human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE APOE4 VARIANT apoe4_variant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE APOE2-DUNEDIN apoe2_dunedin . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE APOE2 VARIANT apoe2_variant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOE APOE-related disorder apoe_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC3 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC3 High density lipoprotein deficiency, Detroit type medgen_c4017419 MedGen:C4017419 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC3 Apolipoprotein c-III deficiency mondo_mondo_0013534_medgen_c3151467_omim_614028 MONDO:MONDO:0013534,MedGen:C3151467,OMIM:614028 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC3 Apolipoprotein C-III, nonglycosylated apolipoprotein_c_iii_nonglycosylated . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 APOLIPOPROTEIN C-II (WAKAYAMA) apolipoprotein_c_ii_wakayama . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 APOLIPOPROTEIN C-II (TORONTO) apolipoprotein_c_ii_toronto . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 APOLIPOPROTEIN C-II (ST. MICHAEL) apolipoprotein_c_ii_st_michael . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 APOLIPOPROTEIN C-II (PARIS) apolipoprotein_c_ii_paris . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 APOLIPOPROTEIN C-II (PADOVA) apolipoprotein_c_ii_padova . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 APOLIPOPROTEIN C-II (HAMBURG) apolipoprotein_c_ii_hamburg . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 APOLIPOPROTEIN C-II (BARI) apolipoprotein_c_ii_bari . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOC2 APOLIPOPROTEIN C-II (AUCKLAND) apolipoprotein_c_ii_auckland . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA5 Hypertriglyceridemia human_phenotype_ontology_hp_0002155_human_phenotype_ontology_hp_0003082_human_phenotype_ontology_hp_0008174_human_phenotype_ontology_hp_0008332_mondo_mondo_0005347_medgen_c0813230 Human_Phenotype_Ontology:HP:0002155,Human_Phenotype_Ontology:HP:0003082,Human_Phenotype_Ontology:HP:0008174,Human_Phenotype_Ontology:HP:0008332,MONDO:MONDO:0005347,MedGen:C0813230 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA5 Hyperlipoproteinemia human_phenotype_ontology_hp_0010980_mondo_mondo_0037748_medgen_c0020476 Human_Phenotype_Ontology:HP:0010980,MONDO:MONDO:0037748,MedGen:C0020476 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA2 APOLIPOPROTEIN A-II DEFICIENCY mondo_mondo_0980749_medgen_c3888202_omim_621417 MONDO:MONDO:0980749,MedGen:C3888202,OMIM:621417 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 High density lipoprotein deficiency, Detroit type medgen_c4017419 MedGen:C4017419 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 Hereditary spastic paraplegia 50 mondo_mondo_0013048_medgen_c2752008_omim_612936_orphanet_280763 MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 APOLIPOPROTEIN A-I (MUNSTER3C) apolipoprotein_a_i_munster3c . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 APOLIPOPROTEIN A-I (MILANO) apolipoprotein_a_i_milano . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APOA1 APOLIPOPROTEIN A-I (MARBURG) apolipoprotein_a_i_marburg . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APCDD1 Hypotrichosis 1 mondo_mondo_0011549_medgen_c4551976_omim_605389_orphanet_55654 MONDO:MONDO:0011549,MedGen:C4551976,OMIM:605389,Orphanet:55654 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC2 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Malignant tumor of unknown origin mondo_mondo_0858997_medgen_c0027667_orphanet_631251 MONDO:MONDO:0858997,MedGen:C0027667,Orphanet:631251 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Malignant tumor of pancreas mondo_mondo_0009831_medgen_c0346647 MONDO:MONDO:0009831,MedGen:C0346647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Intestinal polyp human_phenotype_ontology_hp_0005266_mondo_mondo_0005288_medgen_c0021846 Human_Phenotype_Ontology:HP:0005266,MONDO:MONDO:0005288,MedGen:C0021846 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Hyperplastic colonic polyposis human_phenotype_ontology_hp_0012183_medgen_c4023010 Human_Phenotype_Ontology:HP:0012183,MedGen:C4023010 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Gastric polyposis human_phenotype_ontology_hp_0004394_mondo_mondo_0008277_medgen_c0236048 Human_Phenotype_Ontology:HP:0004394,MONDO:MONDO:0008277,MedGen:C0236048 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Duodenal polyposis human_phenotype_ontology_hp_0004783_medgen_c0578477 Human_Phenotype_Ontology:HP:0004783,MedGen:C0578477 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Craniopharyngioma human_phenotype_ontology_hp_0030062_mondo_mondo_0018907_mesh_d003397_medgen_c0010276_orphanet_54595 Human_Phenotype_Ontology:HP:0030062,MONDO:MONDO:0018907,MeSH:D003397,MedGen:C0010276,Orphanet:54595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Colonic neoplasm human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Colon adenocarcinoma human_phenotype_ontology_hp_0040276_mondo_mondo_0002271_medgen_c0338106 Human_Phenotype_Ontology:HP:0040276,MONDO:MONDO:0002271,MedGen:C0338106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC Atypical endometrial hyperplasia mondo_mondo_0006096_medgen_c0349579 MONDO:MONDO:0006096,MedGen:C0349579 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC APC-related polyposis apc_related_polyposis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC APC associated polyposis apc_associated_polyposis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APC ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA medgen_c2673229 MedGen:C2673229 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control 0 record-level condition-associated architecture; not patient coverage or disease prevalence APBB1 autosomal recessive SMPD1-related disorders autosomal_recessive_smpd1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence APBB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5Z1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5B1 AP5B1-associated macular dystrophy ap5b1_associated_macular_dystrophy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 Spastic Paraplegia 52 spastic_paraplegia_52 MedGen:CN230088 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4S1 APS41-related disorder aps41_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 CNS hypomyelination human_phenotype_ontology_hp_0003429_medgen_c4025616 Human_Phenotype_Ontology:HP:0003429,MedGen:C4025616 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Brain atrophy human_phenotype_ontology_hp_0012444_medgen_c4551584 Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 AP-4 deficiency syndrome mondo_mondo_0100176_medgen_c4755264_orphanet_280763 MONDO:MONDO:0100176,MedGen:C4755264,Orphanet:280763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 Stuttering, familial persistent, 1 gene_100049541_mondo_mondo_0008483_medgen_c3489627_omim_184450 Gene:100049541,MONDO:MONDO:0008483,MedGen:C3489627,OMIM:184450 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 Stuttering human_phenotype_ontology_hp_0025268_medgen_c0038506 Human_Phenotype_Ontology:HP:0025268,MedGen:C0038506 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 Developmental disorder medgen_c0008073 MedGen:C0008073 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 AP4E1-related disorder ap4e1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 ALG12-congenital disorder of glycosylation mondo_mondo_0011783_medgen_c2931001_omim_607143_orphanet_79324 MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3D1 Hermansky-Pudlak syndrome 10 mondo_mondo_0014885_medgen_c4310746_omim_617050_orphanet_664511 MONDO:MONDO:0014885,MedGen:C4310746,OMIM:617050,Orphanet:664511 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3B1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3B1 Autoinflammatory syndrome mondo_mondo_0019751_medgen_c3890737_orphanet_93665 MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3B1 AP3B1-related disorder ap3b1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP2S1 Familial hyperparathyroidism or Hypocalciuric hypercalcaemia familial_hyperparathyroidism_or_hypocalciuric_hypercalcaemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP2M1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP2M1 Intellectual developmental disorder 60 with seizures mondo_mondo_0032823_medgen_c5231497_omim_618587 MONDO:MONDO:0032823,MedGen:C5231497,OMIM:618587 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP2M1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S2 X-linked syndromic intellectual disability mondo_mondo_0020119_medgen_cn228426_omim_ps309510 MONDO:MONDO:0020119,MedGen:CN228426,OMIM:PS309510 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S2 Fried syndrome mondo_mondo_0019428_medgen_c4305134_orphanet_85335 MONDO:MONDO:0019428,MedGen:C4305134,Orphanet:85335 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1S1 AP1S1-related disorder ap1s1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1G2 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1G1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1B1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP1B1 AP1B1-related disorder ap1b1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP AOPEP-related disorder aopep_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANXA7 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANXA11 Oculopharyngeal muscular dystrophy 1 mondo_mondo_0958176_medgen_cn376802_omim_164300 MONDO:MONDO:0958176,MedGen:CN376802,OMIM:164300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANXA11 Inclusion body myopathy and brain white matter abnormalities mondo_mondo_0850514_medgen_c5676909_omim_619733 MONDO:MONDO:0850514,MedGen:C5676909,OMIM:619733 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANXA11 Amyotrophic lateral sclerosis human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANTXR2 Juvenile hyaline fibromatosis mondo_mondo_0016071_medgen_c2745948_orphanet_2028 MONDO:MONDO:0016071,MedGen:C2745948,Orphanet:2028 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANTXR2 ANTXR2-related disorder antxr2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANTXR1 ANTXR1-related disorder antxr1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANOS1 Martsolf syndrome 1 mondo_mondo_8000008_medgen_c5542298_omim_212720_orphanet_1387 MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720,Orphanet:1387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANOS1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANOS1 Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANOS1 Delayed puberty human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANOS1 ANOS1-related disorder anos1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO6 Hydrocephalus, nonsyndromic, autosomal recessive 2 mondo_mondo_0014085_medgen_c3554691_omim_615219_orphanet_2185 MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Muscular dystrophy human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Lower limb muscle weakness human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Lower limb amyotrophy human_phenotype_ontology_hp_0007210_medgen_c4024921 Human_Phenotype_Ontology:HP:0007210,MedGen:C4024921 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Hereditary fructosuria human_phenotype_ontology_hp_0005973_mondo_mondo_0009249_medgen_c0016751_omim_229600_orphanet_469 Human_Phenotype_Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Fatty replacement of skeletal muscle human_phenotype_ontology_hp_0012548_medgen_c4021082 Human_Phenotype_Ontology:HP:0012548,MedGen:C4021082 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Acute rhabdomyolysis human_phenotype_ontology_hp_0008942_medgen_c3807306 Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Achilles tendon contracture human_phenotype_ontology_hp_0001771_human_phenotype_ontology_hp_0004711_human_phenotype_ontology_hp_0005031_human_phenotype_ontology_hp_0006430_medgen_c0410264 Human_Phenotype_Ontology:HP:0001771,Human_Phenotype_Ontology:HP:0004711,Human_Phenotype_Ontology:HP:0005031,Human_Phenotype_Ontology:HP:0006430,MedGen:C0410264 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 ANO5-related muscular dystrophy ano5_related_muscular_dystrophy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 ANO5 Muscle Disease ano5_muscle_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO4 Temporal lobe epilepsy mondo_mondo_0005115_medgen_c0014556_omim_ps600512_orphanet_98819 MONDO:MONDO:0005115,MedGen:C0014556,OMIM:PS600512,Orphanet:98819 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO4 Generalized epilepsy with febrile seizures plus mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO10 Autosomal recessive cerebellar ataxia mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO10 Abnormal central motor function human_phenotype_ontology_hp_0011442_medgen_c4023354 Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO1 ANO1-related fatal neonatal disease due to impaired chloride currents ano1_related_fatal_neonatal_disease_due_to_impaired_chloride_currents . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANLN condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKS3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKS1B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD44 Neurodevelopmental disorder with hypotonia, seizures, and absent language mondo_mondo_0014995_medgen_c4310643_omim_617268 MONDO:MONDO:0014995,MedGen:C4310643,OMIM:617268 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD37 Developmental dysplasia of the hip human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD37 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD31 Inherited primary ovarian failure mondo_mondo_0019852_medgen_c2930861_omim_ps311360_orphanet_95710 MONDO:MONDO:0019852,MedGen:C2930861,OMIM:PS311360,Orphanet:95710 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD26 Inherited bleeding disorder, platelet-type mondo_mondo_0000009_mesh_d001791_medgen_c0005818_omim_ps231200_orphanet_248326 MONDO:MONDO:0000009,MeSH:D001791,MedGen:C0005818,OMIM:PS231200,Orphanet:248326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD26 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD26 ANKRD26-related disorder ankrd26_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD24 Hereditary hearing loss and deafness medgen_c0236038 MedGen:C0236038 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD17 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD17 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Wide nasal bridge human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Unilateral cryptorchidism human_phenotype_ontology_hp_0012741_medgen_c0431664 Human_Phenotype_Ontology:HP:0012741,MedGen:C0431664 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Sudden unexplained death in childhood mondo_mondo_1010117_medgen_c3827273 MONDO:MONDO:1010117,MedGen:C3827273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Short palm human_phenotype_ontology_hp_0001165_human_phenotype_ontology_hp_0004279_medgen_c1843108 Human_Phenotype_Ontology:HP:0001165,Human_Phenotype_Ontology:HP:0004279,MedGen:C1843108 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Short foot human_phenotype_ontology_hp_0001764_human_phenotype_ontology_hp_0001766_human_phenotype_ontology_hp_0001773_human_phenotype_ontology_hp_0001778_human_phenotype_ontology_hp_0008135_medgen_c1848673 Human_Phenotype_Ontology:HP:0001764,Human_Phenotype_Ontology:HP:0001766,Human_Phenotype_Ontology:HP:0001773,Human_Phenotype_Ontology:HP:0001778,Human_Phenotype_Ontology:HP:0008135,MedGen:C1848673 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Retrognathia human_phenotype_ontology_hp_0000278_human_phenotype_ontology_hp_0002053_human_phenotype_ontology_hp_0002954_medgen_c0035353 Human_Phenotype_Ontology:HP:0000278,Human_Phenotype_Ontology:HP:0002053,Human_Phenotype_Ontology:HP:0002954,MedGen:C0035353 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Ptosis human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Monogenic short statue monogenic_short_statue . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Moderate intellectual deficiency moderate_intellectual_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Hypertelorism human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Hypermetropia human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Esotropia human_phenotype_ontology_hp_0000565_mondo_mondo_0004896_medgen_c0014877 Human_Phenotype_Ontology:HP:0000565,MONDO:MONDO:0004896,MedGen:C0014877 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 EBV-positive nodal T- and NK-cell lymphoma ebv_positive_nodal_t_and_nk_cell_lymphoma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Delayed speech and language development human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Decreased total neutrophil count human_phenotype_ontology_hp_0001875_human_phenotype_ontology_hp_0005515_human_phenotype_ontology_hp_0005533_mondo_mondo_0001475_medgen_c0853697 Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Cryptorchidism human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Conductive hearing impairment human_phenotype_ontology_hp_0000367_human_phenotype_ontology_hp_0000405_human_phenotype_ontology_hp_0008581_mondo_mondo_0020679_medgen_c0018777 Human_Phenotype_Ontology:HP:0000367,Human_Phenotype_Ontology:HP:0000405,Human_Phenotype_Ontology:HP:0008581,MONDO:MONDO:0020679,MedGen:C0018777 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Clinodactyly of the 5th finger human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Chromatinopathy chromatinopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Astigmatism human_phenotype_ontology_hp_0000483_mondo_mondo_0011284_medgen_c0004106_omim_603047 Human_Phenotype_Ontology:HP:0000483,MONDO:MONDO:0011284,MedGen:C0004106,OMIM:603047 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKLE2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKLE2 Vanishing white matter disease mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKLE2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKLE2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKLE2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKLE2 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKH Rare epilepsy medgen_c5681770_orphanet_101998 MedGen:C5681770,Orphanet:101998 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKH CHONDROCALCINOSIS 2, SPORADIC medgen_c4016917 MedGen:C4016917 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKH Benign familial infantile epilepsy mondo_mondo_0017615_medgen_c5575231_omim_ps601764_orphanet_306 MONDO:MONDO:0017615,MedGen:C5575231,OMIM:PS601764,Orphanet:306 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKH ANKH-related disorder ankh_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK3 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK3 Classic medulloblastoma mondo_mondo_0016712_medgen_c1707400_orphanet_251867 MONDO:MONDO:0016712,MedGen:C1707400,Orphanet:251867 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK3 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK3 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK3 ANK3-related disorder ank3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 Brugada syndrome mondo_mondo_0015263_medgen_c1142166_omim_ps601144_orphanet_130 MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 ANK2-associated seizure disorder ank2_associated_seizure_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 ANK-related Autism spectrum disorder and epilepsy ank_related_autism_spectrum_disorder_and_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANGPTL3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANGPTL3 Developmental and epileptic encephalopathy, 23 mondo_mondo_0014371_medgen_c4014492_omim_615859_orphanet_411986 MONDO:MONDO:0014371,MedGen:C4014492,OMIM:615859,Orphanet:411986 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANGPTL3 ANGPTL3-related disorder angptl3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANAPC7 Ferguson-Bonni neurodevelopmental syndrome mondo_mondo_0859220_medgen_c5562065_omim_619699 MONDO:MONDO:0859220,MedGen:C5562065,OMIM:619699 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANAPC15 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMTN Amelogenesis imperfecta type 3B mondo_mondo_0021547_medgen_c4539891_omim_617607 MONDO:MONDO:0021547,MedGen:C4539891,OMIM:617607 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMT Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD3 AMPD3-related disorder ampd3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD2 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD2 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMOTL1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMOT Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMN Megaloblastic anemia human_phenotype_ontology_hp_0001889_human_phenotype_ontology_hp_0004858_mondo_mondo_0001700_medgen_c0002888 Human_Phenotype_Ontology:HP:0001889,Human_Phenotype_Ontology:HP:0004858,MONDO:MONDO:0001700,MedGen:C0002888 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMN Cobalamin deficiency human_phenotype_ontology_hp_0100502_mondo_mondo_0020696_medgen_c0042847 Human_Phenotype_Ontology:HP:0100502,MONDO:MONDO:0020696,MedGen:C0042847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMN AMN-related disorder amn_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMMECR1 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMMECR1 Nephrocalcinosis human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMHR2 Male pseudohermaphroditism human_phenotype_ontology_hp_0000037_mesh_d058490_medgen_c0238395 Human_Phenotype_Ontology:HP:0000037,MeSH:D058490,MedGen:C0238395 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMHR2 Differences in sex development differences_in_sex_development . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMHR2 AMHR2-related disorder amhr2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMH Genetic non-acquired premature ovarian failure medgen_c5925042_orphanet_485382 MedGen:C5925042,Orphanet:485382 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMFR condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMER3 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMER1 Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMER1 AMER1-related disorder amer1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMELX AMELX-related disorder amelx_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMDHD2 Childhood-onset epilepsy syndrome mondo_mondo_0020072_medgen_c5681526_orphanet_98259 MONDO:MONDO:0020072,MedGen:C5681526,Orphanet:98259 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMBN condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMACR Autosomal recessive AMACR-related disorders autosomal_recessive_amacr_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMACR Alpha-methylacyl-CoA racemase deficiency mondo_mondo_0013681_medgen_c3280428_omim_614307_orphanet_79095 MONDO:MONDO:0013681,MedGen:C3280428,OMIM:614307,Orphanet:79095 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMACR AMACR-related disorder amacr_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALX4 SIN3A-related intellectual disability syndrome due to a point mutation mondo_mondo_0044700_medgen_c4310804_omim_613406_orphanet_500166_orphanet_94065 MONDO:MONDO:0044700,MedGen:C4310804,OMIM:613406,Orphanet:500166,Orphanet:94065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALX4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALX3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Spasticity human_phenotype_ontology_hp_0001257_medgen_c0026838 Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Limb dystonia human_phenotype_ontology_hp_0002451_medgen_c0751093 Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Juvenile amyotrophic lateral sclerosis mondo_mondo_0017593_medgen_c3468114_orphanet_300605 MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Hypokinesia human_phenotype_ontology_hp_0002375_human_phenotype_ontology_hp_0002603_human_phenotype_ontology_hp_0006795_medgen_c0086439 Human_Phenotype_Ontology:HP:0002375,Human_Phenotype_Ontology:HP:0002603,Human_Phenotype_Ontology:HP:0006795,MedGen:C0086439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Hypertyrosinemia human_phenotype_ontology_hp_0003231_medgen_c1879362 Human_Phenotype_Ontology:HP:0003231,MedGen:C1879362 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Abnormal cerebral white matter morphology human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 ALS2-related motor neuron disease mondo_mondo_0100227_medgen_cn323278 MONDO:MONDO:0100227,MedGen:CN323278 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 ALS2-related disorder als2_related_disorder MedGen:CN169291 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Micromelia human_phenotype_ontology_hp_0002983_human_phenotype_ontology_hp_0003030_human_phenotype_ontology_hp_0005753_medgen_c0025995 Human_Phenotype_Ontology:HP:0002983,Human_Phenotype_Ontology:HP:0003030,Human_Phenotype_Ontology:HP:0005753,MedGen:C0025995 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Hypophosphatemia human_phenotype_ontology_hp_0002148_mondo_mondo_0000313_medgen_c0085682 Human_Phenotype_Ontology:HP:0002148,MONDO:MONDO:0000313,MedGen:C0085682 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Autosomal dominant and autosomal recessive ALPL-related disorders autosomal_dominant_and_autosomal_recessive_alpl_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Autosomal dominant ALPL-related disorders autosomal_dominant_alpl_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Alpha thalassemia-X-linked intellectual disability syndrome mondo_mondo_0010519_medgen_c1845055_omim_301040_orphanet_847 MONDO:MONDO:0010519,MedGen:C1845055,OMIM:301040,Orphanet:847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL ALPL-related autosomal dominant hypophosphatasia mondo_mondo_0100608_medgen_cn379220 MONDO:MONDO:0100608,MedGen:CN379220 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK3 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK1 ALPK1-related disorder alpk1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALPI condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Vertebral fusion human_phenotype_ontology_hp_0002807_human_phenotype_ontology_hp_0002948_human_phenotype_ontology_hp_0008471_human_phenotype_ontology_hp_0008485_medgen_c3278509 Human_Phenotype_Ontology:HP:0002807,Human_Phenotype_Ontology:HP:0002948,Human_Phenotype_Ontology:HP:0008471,Human_Phenotype_Ontology:HP:0008485,MedGen:C3278509 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Trichohepatoenteric syndrome 2 mondo_mondo_0013818_medgen_c3281289_omim_614602_orphanet_84064 MONDO:MONDO:0013818,MedGen:C3281289,OMIM:614602,Orphanet:84064 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Thoracolumbar kyphoscoliosis human_phenotype_ontology_hp_0003423_medgen_c1859335 Human_Phenotype_Ontology:HP:0003423,MedGen:C1859335 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Thoracic scoliosis human_phenotype_ontology_hp_0002943_human_phenotype_ontology_hp_0004615_medgen_c1857790 Human_Phenotype_Ontology:HP:0002943,Human_Phenotype_Ontology:HP:0004615,MedGen:C1857790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Thoracic kyphoscoliosis human_phenotype_ontology_hp_0005659_medgen_c4015465 Human_Phenotype_Ontology:HP:0005659,MedGen:C4015465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Tapered finger human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Short neck human_phenotype_ontology_hp_0000470_human_phenotype_ontology_hp_0005992_human_phenotype_ontology_hp_0200137_medgen_c0521525 Human_Phenotype_Ontology:HP:0000470,Human_Phenotype_Ontology:HP:0005992,Human_Phenotype_Ontology:HP:0200137,MedGen:C0521525 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Severe failure to thrive human_phenotype_ontology_hp_0001525_human_phenotype_ontology_hp_0008876_medgen_c1855514 Human_Phenotype_Ontology:HP:0001525,Human_Phenotype_Ontology:HP:0008876,MedGen:C1855514 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Scoliosis human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Progressive microcephaly human_phenotype_ontology_hp_0000253_medgen_c1850456 Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Progressive congenital scoliosis human_phenotype_ontology_hp_0008458_medgen_c1857025 Human_Phenotype_Ontology:HP:0008458,MedGen:C1857025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Neuropathic spinal arthropathy human_phenotype_ontology_hp_0008443_medgen_c5702564 Human_Phenotype_Ontology:HP:0008443,MedGen:C5702564 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Mitral regurgitation human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Mild malformation of cortical development human_phenotype_ontology_hp_0032059_medgen_c4732830 Human_Phenotype_Ontology:HP:0032059,MedGen:C4732830 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Mild global developmental delay human_phenotype_ontology_hp_0011342_medgen_c4012968 Human_Phenotype_Ontology:HP:0011342,MedGen:C4012968 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Lumbar kyphoscoliosis human_phenotype_ontology_hp_0004619_medgen_c1834953 Human_Phenotype_Ontology:HP:0004619,MedGen:C1834953 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Hypophosphatemia human_phenotype_ontology_hp_0002148_mondo_mondo_0000313_medgen_c0085682 Human_Phenotype_Ontology:HP:0002148,MONDO:MONDO:0000313,MedGen:C0085682 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Hemivertebrae human_phenotype_ontology_hp_0002937_medgen_c0265677 Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Failure to thrive in infancy human_phenotype_ontology_hp_0001531_human_phenotype_ontology_hp_0008863_human_phenotype_ontology_hp_0008925_medgen_c1867873 Human_Phenotype_Ontology:HP:0001531,Human_Phenotype_Ontology:HP:0008863,Human_Phenotype_Ontology:HP:0008925,MedGen:C1867873 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Disproportionate short stature human_phenotype_ontology_hp_0003498_human_phenotype_ontology_hp_0008895_human_phenotype_ontology_hp_0008900_medgen_c0878659 Human_Phenotype_Ontology:HP:0003498,Human_Phenotype_Ontology:HP:0008895,Human_Phenotype_Ontology:HP:0008900,MedGen:C0878659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Delayed fine motor development human_phenotype_ontology_hp_0010862_medgen_c4023681 Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Delayed ability to walk human_phenotype_ontology_hp_0031936_medgen_c0241726 Human_Phenotype_Ontology:HP:0031936,MedGen:C0241726 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Delayed ability to stand human_phenotype_ontology_hp_0025335_medgen_c4476709 Human_Phenotype_Ontology:HP:0025335,MedGen:C4476709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Decreased body weight human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Congenital nonbullous ichthyosiform erythroderma human_phenotype_ontology_hp_0001021_human_phenotype_ontology_hp_0007388_human_phenotype_ontology_hp_0007479_human_phenotype_ontology_hp_0007512_human_phenotype_ontology_hp_0007619_human_phenotype_ontology_hp_0007625_mondo_mondo_0019306_medgen_c0079154_orphanet_79394 Human_Phenotype_Ontology:HP:0001021,Human_Phenotype_Ontology:HP:0007388,Human_Phenotype_Ontology:HP:0007479,Human_Phenotype_Ontology:HP:0007512,Human_Phenotype_Ontology:HP:0007619,Human_Phenotype_Ontology:HP:0007625,MONDO:MONDO:0019306,MedGen:C0079154,Orphanet:79394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Congenital elevation of scapula human_phenotype_ontology_hp_0000912_human_phenotype_ontology_hp_0006621_mondo_mondo_0008482_medgen_c0152438_omim_184400_orphanet_3181 Human_Phenotype_Ontology:HP:0000912,Human_Phenotype_Ontology:HP:0006621,MONDO:MONDO:0008482,MedGen:C0152438,OMIM:184400,Orphanet:3181 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Childhood-onset short-trunk short stature human_phenotype_ontology_hp_0003522_human_phenotype_ontology_hp_0008922_medgen_c3148833 Human_Phenotype_Ontology:HP:0003522,Human_Phenotype_Ontology:HP:0008922,MedGen:C3148833 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Brachycephaly human_phenotype_ontology_hp_0000248_human_phenotype_ontology_hp_0002258_human_phenotype_ontology_hp_0004479_human_phenotype_ontology_hp_0008512_medgen_c0221356_orphanet_35099 Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MedGen:C0221356,Orphanet:35099 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Abnormal form of the vertebral bodies human_phenotype_ontology_hp_0003312_medgen_c1839326 Human_Phenotype_Ontology:HP:0003312,MedGen:C1839326 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B Ichthyosis human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B Congenital nonbullous ichthyosiform erythroderma human_phenotype_ontology_hp_0001021_human_phenotype_ontology_hp_0007388_human_phenotype_ontology_hp_0007479_human_phenotype_ontology_hp_0007512_human_phenotype_ontology_hp_0007619_human_phenotype_ontology_hp_0007625_mondo_mondo_0019306_medgen_c0079154_orphanet_79394 Human_Phenotype_Ontology:HP:0001021,Human_Phenotype_Ontology:HP:0007388,Human_Phenotype_Ontology:HP:0007479,Human_Phenotype_Ontology:HP:0007512,Human_Phenotype_Ontology:HP:0007619,Human_Phenotype_Ontology:HP:0007625,MONDO:MONDO:0019306,MedGen:C0079154,Orphanet:79394 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B Congenital ichthyosiform erythroderma human_phenotype_ontology_hp_0007431_human_phenotype_ontology_hp_0007478_human_phenotype_ontology_hp_0007484_medgen_c0079583 Human_Phenotype_Ontology:HP:0007431,Human_Phenotype_Ontology:HP:0007478,Human_Phenotype_Ontology:HP:0007484,MedGen:C0079583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Stickler syndrome mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Stage 5 chronic kidney disease human_phenotype_ontology_hp_0000101_human_phenotype_ontology_hp_0003774_human_phenotype_ontology_hp_0004720_human_phenotype_ontology_hp_0004725_human_phenotype_ontology_hp_0004733_human_phenotype_ontology_hp_0004738_human_phenotype_ontology_hp_0005570_mondo_mondo_0004375_medgen_c2316810 Human_Phenotype_Ontology:HP:0000101,Human_Phenotype_Ontology:HP:0003774,Human_Phenotype_Ontology:HP:0004720,Human_Phenotype_Ontology:HP:0004725,Human_Phenotype_Ontology:HP:0004733,Human_Phenotype_Ontology:HP:0004738,Human_Phenotype_Ontology:HP:0005570,MONDO:MONDO:0004375,MedGen:C2316810 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Leukodystrophy human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Alström Syndrom alstr_m_syndrom . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALK condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALK Rhabdomyosarcoma human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALK Ovarian cancer mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALK Neuroblastoma human_phenotype_ontology_hp_0003006_human_phenotype_ontology_hp_0006738_mondo_mondo_0005072_mesh_d009447_medgen_c0027819_orphanet_635 Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALK Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALK ALK-related disorder alk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 Familial cystic renal disease mondo_mondo_0019741_medgen_c5680285_orphanet_93587 MONDO:MONDO:0019741,MedGen:C5680285,Orphanet:93587 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 Autosomal dominant polycystic kidney disease mondo_mondo_0004691_medgen_c0085413_orphanet_730 MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG8 Cystic renal disease cystic_renal_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG3 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG14 Congenital myasthenic syndrome 15 mondo_mondo_0014542_medgen_c4015596_omim_616227_orphanet_353327_orphanet_590 MONDO:MONDO:0014542,MedGen:C4015596,OMIM:616227,Orphanet:353327,Orphanet:590 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Rare genetic intellectual disability medgen_c5680527_orphanet_183757 MedGen:C5680527,Orphanet:183757 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG13 ALG13-related disorder alg13_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG12 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG12 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG11 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG10 Developmental and epileptic encephalopathy, 36 mondo_mondo_0010472_medgen_c4317295_omim_300884_orphanet_324422 MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG10 ALG9 congenital disorder of glycosylation mondo_mondo_0012117_medgen_c2931006_omim_608776_orphanet_79328 MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 Finnish congenital nephrotic syndrome mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 Congenital disorder of glycosylation type I mondo_mondo_0005500_medgen_c4700504_omim_ps212065 MONDO:MONDO:0005500,MedGen:C4700504,OMIM:PS212065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 ALG12-congenital disorder of glycosylation mondo_mondo_0011783_medgen_c2931001_omim_607143_orphanet_79324 MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Neonatal seizure human_phenotype_ontology_hp_0032807_medgen_c0159020 Human_Phenotype_Ontology:HP:0032807,MedGen:C0159020 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Developmental and epileptic encephalopathy, 13 mondo_mondo_0013801_medgen_c3281191_omim_614558_orphanet_442835 MONDO:MONDO:0013801,MedGen:C3281191,OMIM:614558,Orphanet:442835 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH6A1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH5A1 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH5A1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH3A2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH3A2 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH3A2 ALDH3A2-related disorder aldh3a2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH3A1 Keratoconus human_phenotype_ontology_hp_0000563_mondo_mondo_0015486_mesh_d007640_medgen_c0022578_omim_ps148300 Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH1B1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH1A3 Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 ALDH18A1 deficiency aldh18a1_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALB Hyperthyroidism human_phenotype_ontology_hp_0000836_human_phenotype_ontology_hp_0008241_mondo_mondo_0004425_medgen_c0020550 Human_Phenotype_Ontology:HP:0000836,Human_Phenotype_Ontology:HP:0008241,MONDO:MONDO:0004425,MedGen:C0020550 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALB Analbuminemia Baghdad medgen_c4015776 MedGen:C4015776 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALB ALBUMIN B albumin_b . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALAS2 Sideroblastic anemia 1, late-onset medgen_c4225593 MedGen:C4225593 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALAS2 ALAS2-related disorder alas2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 Polymicrogyria human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes mondo_mondo_0100283_medgen_cn300503 MONDO:MONDO:0100283,MedGen:CN300503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 Megalencephaly-capillary malformation-polymicrogyria syndrome mondo_mondo_0011240_medgen_c1865285_omim_602501_orphanet_60040 MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 Capillary hemangioma human_phenotype_ontology_hp_0005306_mondo_mondo_0002407_medgen_c0206733 Human_Phenotype_Ontology:HP:0005306,MONDO:MONDO:0002407,MedGen:C0206733 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT3 AKT3-related disorder akt3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT2 Hypoinsulinemic hypoglycemia and body hemihypertrophy mondo_mondo_0009416_medgen_c3278384_omim_240900_orphanet_293964 MONDO:MONDO:0009416,MedGen:C3278384,OMIM:240900,Orphanet:293964 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT1 Ovarian neoplasm human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT1 Carcinoma of colon mondo_mondo_0002032_medgen_c0699790 MONDO:MONDO:0002032,MedGen:C0699790 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKT1 Breast adenocarcinoma mondo_mondo_0004988_medgen_c0858252 MONDO:MONDO:0004988,MedGen:C0858252 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKR1D1 Congenital bile acid synthesis defect mondo_mondo_0018841_medgen_c5680095_omim_ps607765_orphanet_485631 MONDO:MONDO:0018841,MedGen:C5680095,OMIM:PS607765,Orphanet:485631 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AKAP19 Myostatin-related muscle hypertrophy mondo_mondo_0013598_medgen_c2931112_omim_614160_orphanet_275534 MONDO:MONDO:0013598,MedGen:C2931112,OMIM:614160,Orphanet:275534 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AK1 Adenylate kinase deficiency adenylate_kinase_deficiency . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIRE Inherited Immunodeficiency Diseases mesh_d000081207_medgen_c5197805 MeSH:D000081207,MedGen:C5197805 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIRE Autoimmune Polyendocrine Syndrome autoimmune_polyendocrine_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 Juvenile retinitis pigmentosa, AIPL1-related medgen_c2751763 MedGen:C2751763 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 Cone-rod dystrophy 2 mondo_mondo_0007362_medgen_c3489532_omim_120970_orphanet_1872 MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orphanet:1872 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 CONE-ROD DYSTROPHY, AIPL1-RELATED medgen_c2751764 MedGen:C2751764 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIMP2 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIMP2 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIMP1 Hypotonia human_phenotype_ontology_hp_0001252_medgen_c0026827 Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Tip-toe gait human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Pes planus human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Foot dorsiflexor weakness human_phenotype_ontology_hp_0003377_human_phenotype_ontology_hp_0009027_medgen_c1866141 Human_Phenotype_Ontology:HP:0003377,Human_Phenotype_Ontology:HP:0009027,MedGen:C1866141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Dystonia 9 mondo_mondo_0010983_medgen_c1832855_omim_601042_orphanet_53583 MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042,Orphanet:53583 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 Distal muscle weakness human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIFM1 AIFM1-related disorder aifm1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHSG Alopecia-intellectual disability syndrome 1 mondo_mondo_0021035_medgen_c1859878_omim_203650 MONDO:MONDO:0021035,MedGen:C1859878,OMIM:203650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHR Retinitis pigmentosa 85 mondo_mondo_0032689_medgen_c5193041_omim_618345 MONDO:MONDO:0032689,MedGen:C5193041,OMIM:618345 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHR Infantile nystagmus with foveal hypoplasia infantile_nystagmus_with_foveal_hypoplasia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Typical Joubert syndrome MRI findings typical_joubert_syndrome_mri_findings MedGen:CN228298 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Abnormality of the eye human_phenotype_ontology_hp_0000478_medgen_c4316870 Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Congenital cerebellar hypoplasia mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Cerebellar vermis hypoplasia human_phenotype_ontology_hp_0001320_medgen_c1840379 Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 Abdominal obesity-metabolic syndrome 3 mondo_mondo_0014352_medgen_c4014361_omim_615812 MONDO:MONDO:0014352,MedGen:C4014361,OMIM:615812 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHCY Rhabdomyolysis human_phenotype_ontology_hp_0003201_medgen_c0035410 Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Hyperoxaluria human_phenotype_ontology_hp_0003159_medgen_c0020500 Human_Phenotype_Ontology:HP:0003159,MedGen:C0020500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Alanine glyoxylate aminotransferase deficiency mondo_mondo_0100278_medgen_cn305373 MONDO:MONDO:0100278,MedGen:CN305373 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTR1 Essential hypertension mondo_mondo_0001134_medgen_c0085580 MONDO:MONDO:0001134,MedGen:C0085580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTPBP1 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures mondo_mondo_0020841_medgen_c4748032_omim_618056 MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGTPBP1 Motor polyneuropathy human_phenotype_ontology_hp_0007178_human_phenotype_ontology_hp_0007278_mondo_mondo_0002316_medgen_c0271683 Human_Phenotype_Ontology:HP:0007178,Human_Phenotype_Ontology:HP:0007278,MONDO:MONDO:0002316,MedGen:C0271683 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGT Unexplained young onset end-stage renal disease unexplained_young_onset_end_stage_renal_disease . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGT Large fontanelles human_phenotype_ontology_hp_0000239_human_phenotype_ontology_hp_0004473_medgen_c0456132 Human_Phenotype_Ontology:HP:0000239,Human_Phenotype_Ontology:HP:0004473,MedGen:C0456132 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGT Anhydramnios human_phenotype_ontology_hp_0025700_medgen_c0730379 Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGRN Presynaptic congenital myasthenic syndrome mondo_mondo_0700466_medgen_c0751884_orphanet_98914 MONDO:MONDO:0700466,MedGen:C0751884,Orphanet:98914 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGRN Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGR2 AGR2-related disorder agr2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPAT5 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPAT3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO2 Premature ovarian failure 3 mondo_mondo_0012169_medgen_c1837008_omim_608996 MONDO:MONDO:0012169,MedGen:C1837008,OMIM:608996 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO1 Neurodevelopmental abnormality human_phenotype_ontology_hp_0012759_medgen_c4022737 Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO1 AGO1-related neurodevelopmental disorder ago1_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO1 AGO1-related disorder ago1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGO1 AGO1-associated disorder ago1_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGMO Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGMO AGMO-related Neurodevelopmental disorder agmo_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGMAT Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Glycogen storage disease IIIc medgen_c1968741 MedGen:C1968741 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Autosomal recessive AGL-related disorders autosomal_recessive_agl_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Abnormality of metabolism/homeostasis human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK Trichohepatoenteric syndrome 1 mondo_mondo_0024541_medgen_c4551982_omim_222470_orphanet_84064 MONDO:MONDO:0024541,MedGen:C4551982,OMIM:222470,Orphanet:84064 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK Autosomal recessive AGK-related phenotype autosomal_recessive_agk_related_phenotype . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGGF1 Non-syndromic syndactyly mondo_mondo_0019530_medgen_c5681365_orphanet_90025 MONDO:MONDO:0019530,MedGen:C5681365,Orphanet:90025 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGBL5 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGBL5 Autosomal recessive retinitis pigmentosa medgen_c0339526 MedGen:C0339526 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGA Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGA ASPARTYLGLUCOSAMINURIA, FINNISH TYPE medgen_c4017301 MedGen:C4017301 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFP Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Spastic paraparesis human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Spastic ataxia human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Sensorineural hearing loss disorder human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Reduced tendon reflexes human_phenotype_ontology_hp_0001315_human_phenotype_ontology_hp_0001316_medgen_c1866934 Human_Phenotype_Ontology:HP:0001315,Human_Phenotype_Ontology:HP:0001316,MedGen:C1866934 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Glycogen storage disease type III mondo_mondo_0009291_medgen_c0017922_omim_232400_orphanet_366 MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 AFG3L2-associated disorder afg3l2_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2B SPATA5L1-related disorder spata5l1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2B Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2A Syndromic complex neurodevelopmental disorder mondo_mondo_0800439_medgen_cn372091 MONDO:MONDO:0800439,MedGen:CN372091 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2A Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2A Ciliary dyskinesia, primary, 37 mondo_mondo_0033204_medgen_c4539798_omim_617577 MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF3 AFF3-related neurodevelopmental disorders aff3_related_neurodevelopmental_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF3 AFF3-associated disorder aff3_associated_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF2 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFF2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFAP1L2 Vesicoureteral reflux human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AEBP1 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AEBP1 AEBP1-related disorder aebp1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSS1 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSS1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSS1 ADSS1-related disorder adss1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADRB1 SHORT SLEEP, FAMILIAL NATURAL, 2 medgen_c5231420_omim_618591 MedGen:C5231420,OMIM:618591 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADRA2B condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADRA2A Lipodystrophy, familial partial, type 8 mondo_mondo_0958022_medgen_c5882744_omim_620679 MONDO:MONDO:0958022,MedGen:C5882744,OMIM:620679 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADPRS ADPRS-related disorder adprs_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADPRS ADPRHL2-related disorder adprhl2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP intellectual deficiency intellectual_deficiency MedGen:CN228659 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Stereotypic movement disorder mondo_mondo_0002265_medgen_c0038273 MONDO:MONDO:0002265,MedGen:C0038273 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Hypothyroidism human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Decreased response to growth hormone stimulation test human_phenotype_ontology_hp_0000824_human_phenotype_ontology_hp_0000861_human_phenotype_ontology_hp_0008195_human_phenotype_ontology_hp_0008206_medgen_c5539399 Human_Phenotype_Ontology:HP:0000824,Human_Phenotype_Ontology:HP:0000861,Human_Phenotype_Ontology:HP:0008195,Human_Phenotype_Ontology:HP:0008206,MedGen:C5539399 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Corpus callosum, agenesis of human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Autism, severe medgen_c1839707 MedGen:C1839707 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Aggressive behavior human_phenotype_ontology_hp_0000718_human_phenotype_ontology_hp_0006919_medgen_c0001807 Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Abnormality of the dentition human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADK ADK-related disorder adk_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADIPOR1 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Usher syndrome, type IIC, GPR98/PDZD7 digenic medgen_c3148929 MedGen:C3148929 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Ear malformation human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Autosomal recessive sensorineural hearing loss autosomal_recessive_sensorineural_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 ADGRV1-related myoclonic epilepsy adgrv1_related_myoclonic_epilepsy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG6 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG2 Obstructive azoospermia human_phenotype_ontology_hp_0011962_medgen_c4023106 Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Visual impairment human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Strabismus human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Pachygyria human_phenotype_ontology_hp_0001302_human_phenotype_ontology_hp_0007227_medgen_c0266483 Human_Phenotype_Ontology:HP:0001302,Human_Phenotype_Ontology:HP:0007227,MedGen:C0266483 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Moderate intellectual disability human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Generalized-onset seizure human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Generalized weakness of limb muscles human_phenotype_ontology_hp_0009028_medgen_c4024605 Human_Phenotype_Ontology:HP:0009028,MedGen:C4024605 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Abnormal cerebral morphology human_phenotype_ontology_hp_0002060_medgen_c4021762 Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRE2 Vibratory urticaria human_phenotype_ontology_hp_0410138_mondo_mondo_0006618_medgen_c0157743_omim_125630 Human_Phenotype_Ontology:HP:0410138,MONDO:MONDO:0006618,MedGen:C0157743,OMIM:125630 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRB2 Progressive spastic paraparesis human_phenotype_ontology_hp_0007199_medgen_c0747251 Human_Phenotype_Ontology:HP:0007199,MedGen:C0747251 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADD3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADD3 Cerebral palsy, spastic quadriplegic, 3 mondo_mondo_0014862_medgen_c4310767_omim_617008_orphanet_210141 MONDO:MONDO:0014862,MedGen:C4310767,OMIM:617008,Orphanet:210141 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADD3 Cerebral palsy human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADD1 Esophageal atresia/tracheoesophageal fistula human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY5 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY5 Dyskinesia with orofacial involvement mondo_mondo_0031115_medgen_c5908309_omim_ps606703 MONDO:MONDO:0031115,MedGen:C5908309,OMIM:PS606703 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY3 Inherited obesity mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY10 Reduced sperm motility human_phenotype_ontology_hp_0012207_medgen_c4082176 Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY10 Abnormal sperm morphology human_phenotype_ontology_hp_0012864_medgen_c0403824 Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY10 ADCY10-related disorder adcy10_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAT3 Neurodevelopmental disorder with brain abnormalities neurodevelopmental_disorder_with_brain_abnormalities . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAR Leukodystrophy, Adult-Onset leukodystrophy_adult_onset MedGen:CN239186 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAR Cerebral calcification human_phenotype_ontology_hp_0002502_human_phenotype_ontology_hp_0002514_human_phenotype_ontology_hp_0005806_human_phenotype_ontology_hp_0006848_medgen_c0270685 Human_Phenotype_Ontology:HP:0002502,Human_Phenotype_Ontology:HP:0002514,Human_Phenotype_Ontology:HP:0005806,Human_Phenotype_Ontology:HP:0006848,MedGen:C0270685 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAR ADAR-related type 1 interferonopathy mondo_mondo_0700261_medgen_cn377547 MONDO:MONDO:0700261,MedGen:CN377547 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL4 Ectopia lentis human_phenotype_ontology_hp_0000665_human_phenotype_ontology_hp_0001083_human_phenotype_ontology_hp_0007637_human_phenotype_ontology_hp_0007882_human_phenotype_ontology_hp_0008016_medgen_c0013581 Human_Phenotype_Ontology:HP:0000665,Human_Phenotype_Ontology:HP:0001083,Human_Phenotype_Ontology:HP:0007637,Human_Phenotype_Ontology:HP:0007882,Human_Phenotype_Ontology:HP:0008016,MedGen:C0013581 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL2 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL2 ADAMTSL2-related disorder adamtsl2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS9 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS6 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS18 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS17 Anterior segment dysgenesis human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS17 ADAMTS17-related disorder adamts17_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS16 46,XY disorder of sex development mondo_mondo_0020040_medgen_c2751824_orphanet_98085 MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS15 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS13 Thrombocytopenia human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS13 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS1 Premature ovarian failure mondo_mondo_0005387_medgen_c0085215 MONDO:MONDO:0005387,MedGen:C0085215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM9 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM22 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM22 ADAM22-related disorder adam22_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM17 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM17 Neonatal inflammatory skin and bowel disease mondo_mondo_0017411_medgen_c4751120_omim_ps614328_orphanet_294023 MONDO:MONDO:0017411,MedGen:C4751120,OMIM:PS614328,Orphanet:294023 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM17 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAD2 Non-obstructive azoospermia human_phenotype_ontology_hp_0011961_medgen_c4021107 Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA2 Splenomegaly human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA2 Polyarteritis nodosa mondo_mondo_0019170_medgen_c0031036_orphanet_767 MONDO:MONDO:0019170,MedGen:C0031036,Orphanet:767 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive mondo_mondo_0011086_medgen_c1832322_omim_601457_orphanet_331206 MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA Partial adenosine deaminase deficiency medgen_c1863239 MedGen:C1863239 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Telangiectasia human_phenotype_ontology_hp_0001009_human_phenotype_ontology_hp_0001079_mondo_mondo_0001576_medgen_c0039446 Human_Phenotype_Ontology:HP:0001009,Human_Phenotype_Ontology:HP:0001079,MONDO:MONDO:0001576,MedGen:C0039446 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Epistaxis human_phenotype_ontology_hp_0000421_medgen_c0014591 Human_Phenotype_Ontology:HP:0000421,MedGen:C0014591 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVR1B Dextro-looped transposition of the great arteries human_phenotype_ontology_hp_0031348_mondo_mondo_0019443_medgen_c3531771_omim_608808_orphanet_860 Human_Phenotype_Ontology:HP:0031348,MONDO:MONDO:0019443,MedGen:C3531771,OMIM:608808,Orphanet:860 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVR1 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACVR1 ACVR1-related disorder acvr1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTRT3 Dyskeratosis congenita, autosomal dominant 1 mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTR2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Myopathy, distal, 6, adult-onset, autosomal dominant mondo_mondo_0032853_medgen_c5203349_omim_618655 MONDO:MONDO:0032853,MedGen:C5203349,OMIM:618655 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Left ventricular noncompaction human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 ACTN2-related disorder actn2_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN2 ACTN2-related cardiac and skeletal myopathy mondo_mondo_0700349_medgen_cn379592 MONDO:MONDO:0700349,MedGen:CN379592 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTN1 Abnormal bleeding human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL7A Male infertility with normal semen parameters male_infertility_with_normal_semen_parameters . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B Congenital generalized lipodystrophy type 2 mondo_mondo_0010020_medgen_c1720863_omim_269700_orphanet_528_orphanet_696289 MONDO:MONDO:0010020,MedGen:C1720863,OMIM:269700,Orphanet:528,Orphanet:696289 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B Autism human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B ACTL6B-related neurodevelopmental disorder actl6b_related_neurodevelopmental_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B ACTL6B-related dominant intellectual disability actl6b_related_dominant_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B ACTL6B-related disorder actl6b_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Megacystis, microcolon, hypoperistalsis syndrome mondo_mondo_0025986_medgen_c1608393_omim_ps249210_orphanet_2241 MONDO:MONDO:0025986,MedGen:C1608393,OMIM:PS249210,Orphanet:2241 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Intestinal obstruction human_phenotype_ontology_hp_0005214_human_phenotype_ontology_hp_0005239_mondo_mondo_0004565_medgen_c0021843 Human_Phenotype_Ontology:HP:0005214,Human_Phenotype_Ontology:HP:0005239,MONDO:MONDO:0004565,MedGen:C0021843 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Constipation human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Monogenic hearing loss monogenic_hearing_loss . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Baraitser-Winter syndrome mondo_mondo_0017579_medgen_c1853623_omim_ps243310_orphanet_2995 MONDO:MONDO:0017579,MedGen:C1853623,OMIM:PS243310,Orphanet:2995 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Left ventricular noncompaction 4 mondo_mondo_0800350_medgen_c3150682 MONDO:MONDO:0800350,MedGen:C3150682 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTC1 Arthrogryposis mondo_mondo_0008779_medgen_c0003886 MONDO:MONDO:0008779,MedGen:C0003886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Cleft palate human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC congenital_smooth_muscle_hamartoma_with_hemihypertrophy_somatic_mosaic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Baraitser-Winter syndrome mondo_mondo_0017579_medgen_c1853623_omim_ps243310_orphanet_2995 MONDO:MONDO:0017579,MedGen:C1853623,OMIM:PS243310,Orphanet:2995 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB BECKER NEVUS, SOMATIC, MOSAIC becker_nevus_somatic_mosaic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC becker_nevus_isolated_somatic_mosaic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB BECKER NEVUS SYNDROME, SOMATIC, MOSAIC becker_nevus_syndrome_somatic_mosaic . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Aminoacylase 1 deficiency mondo_mondo_0012368_medgen_c1835922_omim_609924_orphanet_137754 MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Abnormal brain morphology human_phenotype_ontology_hp_0012443_medgen_c4021085 Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB ACTB Haploinsufficiency syndrome actb_haploinsufficiency_syndrome . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 alterations of great arteries and veins alterations_of_great_arteries_and_veins . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Marfan syndrome mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Isolated thoracic aortic aneurysm isolated_thoracic_aortic_aneurysm . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Descending aortic dissection human_phenotype_ontology_hp_0012499_medgen_c4022878 Human_Phenotype_Ontology:HP:0012499,MedGen:C4022878 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Connective tissue disorder mondo_mondo_0003900_medgen_c0009782 MONDO:MONDO:0003900,MedGen:C0009782 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Autoimmune lymphoproliferative syndrome type 1 mondo_mondo_0011158_medgen_c1328840_omim_601859_orphanet_3261 MONDO:MONDO:0011158,MedGen:C1328840,OMIM:601859,Orphanet:3261 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Aortic aneurysm, familial thoracic 2 mondo_mondo_0011770_medgen_c1846837_omim_607087 MONDO:MONDO:0011770,MedGen:C1846837,OMIM:607087 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Non-immune hydrops fetalis human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Neurodevelopmental delay human_phenotype_ontology_hp_0012758_medgen_c4022738 Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Nemaline myopathy 2 mondo_mondo_0009725_medgen_c1850569_omim_256030 MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Fetal akinesia deformation sequence mondo_mondo_0008824_medgen_cn263240_omim_ps208150 MONDO:MONDO:0008824,MedGen:CN263240,OMIM:PS208150 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Fetal akinesia medgen_c5442080 MedGen:C5442080 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Congenital muscular dystrophy with rigid spine congenital_muscular_dystrophy_with_rigid_spine . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Centronuclear myopathy mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Arthrogryposis multiplex congenita human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 ACTA1 gene related myopathy acta1_gene_related_myopathy . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSL5 Diarrhea 13 mondo_mondo_0957253_medgen_c5830477_omim_620357 MONDO:MONDO:0957253,MedGen:C5830477,OMIM:620357 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSL4 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSF3 Methylmalonic acidemia human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSF3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACR Spermatogenic failure 87 mondo_mondo_0957594_medgen_c5882687_omim_620500 MONDO:MONDO:0957594,MedGen:C5882687,OMIM:620500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACP6 Cerebral visual impairment and intellectual disability cerebral_visual_impairment_and_intellectual_disability . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACOX2 Congenital bile acid synthesis defect 6 mondo_mondo_0015015_medgen_c4310624_omim_617308 MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACOX1 Muscle weakness human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACOX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACOX1 ACOX1-related disorder acox1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACOT1 Generalized hypotonia human_phenotype_ontology_hp_0001290_medgen_c1858120 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACO2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACO2 Optic neuropathy human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACKR3 condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACKR3 Oculomotor-abducens synkinesis mondo_mondo_0030976_medgen_c5543116_omim_619215 MONDO:MONDO:0030976,MedGen:C5543116,OMIM:619215 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACKR1 White blood cell count quantitative trait locus 1 medgen_c2676078_omim_611862 MedGen:C2676078,OMIM:611862 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACKR1 Resistance to Plasmodium vivax infection medgen_c1970105 MedGen:C1970105 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACER3 ACER3-related disorder acer3_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE Hereditary angioedema with normal C1Inh mondo_mondo_0100567_medgen_c1960459_orphanet_528647 MONDO:MONDO:0100567,MedGen:C1960459,Orphanet:528647 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE Congenital anomaly of kidney and urinary tract mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE Abnormality of prenatal development or birth human_phenotype_ontology_hp_0001197_medgen_c4025797 Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACD condition not provided condition_not_provided MedGen:C3661900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACD Dyskeratosis congenita, autosomal recessive 7 mondo_mondo_0800370_medgen_c4225283 MONDO:MONDO:0800370,MedGen:C4225283 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACBD6 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACBD5 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Short stature-advanced bone age-early-onset osteoarthritis syndrome mondo_mondo_0018566_medgen_c5681177_orphanet_435804 MONDO:MONDO:0018566,MedGen:C5681177,Orphanet:435804 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN ACAN-related short stature spectrum mondo_mondo_1060149_medgen_cn379890 MONDO:MONDO:1060149,MedGen:CN379890 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Pancreatic hypoplasia-diabetes-congenital heart disease syndrome mondo_mondo_0010802_medgen_c2931296_omim_600001_orphanet_2255 MONDO:MONDO:0010802,MedGen:C2931296,OMIM:600001,Orphanet:2255 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Intellectual developmental disorder 62 mondo_mondo_0032919_medgen_c5394083_omim_618793 MONDO:MONDO:0032919,MedGen:C5394083,OMIM:618793 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Incidental Discovery medgen_c1135954 MedGen:C1135954 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADM Hydrocephalus, nonsyndromic, autosomal recessive 2 mondo_mondo_0014085_medgen_c3554691_omim_615219_orphanet_2185 MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADM Deficiency of butyryl-CoA dehydrogenase mondo_mondo_0008722_medgen_c0342783_omim_201470_orphanet_26792 MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD9 Possible mitochondrial disorder - nuclear genes possible_mitochondrial_disorder_nuclear_genes . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD9 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Moyamoya angiopathy medgen_c5681261_orphanet_477768 MedGen:C5681261,Orphanet:477768 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABL1 ABL1-related disorder abl1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD5 ABHD5-related disorder abhd5_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD16A Autosomal recessive complex spastic paraplegia medgen_c5680377_orphanet_100981 MedGen:C5680377,Orphanet:100981 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD12 Cone dystrophy mondo_mondo_0000455_medgen_c0730290_orphanet_1871 MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG8 Gallbladder disease 4 mondo_mondo_1010151_medgen_c1969115_omim_611465 MONDO:MONDO:1010151,MedGen:C1969115,OMIM:611465 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG8 Abnormal circulating lipid concentration human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 Hypercholesterolemia human_phenotype_ontology_hp_0003124_human_phenotype_ontology_hp_0008154_human_phenotype_ontology_hp_0008173_human_phenotype_ontology_hp_0008359_mesh_d006937_medgen_c0020443 Human_Phenotype_Ontology:HP:0003124,Human_Phenotype_Ontology:HP:0008154,Human_Phenotype_Ontology:HP:0008173,Human_Phenotype_Ontology:HP:0008359,MeSH:D006937,MedGen:C0020443 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 Asphyxiating thoracic dystrophy 1 mondo_mondo_0008831_medgen_c4551856_omim_208500_orphanet_474 MONDO:MONDO:0008831,MedGen:C4551856,OMIM:208500,Orphanet:474 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 Abnormal circulating lipid concentration human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD3 Congenital bile acid synthesis defect 5 mondo_mondo_0014564_medgen_c4225390_omim_616278 MONDO:MONDO:0014564,MedGen:C4225390,OMIM:616278 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 X-linked cerebral adrenoleukodystrophy mondo_mondo_0010247_medgen_c2026514_orphanet_139396 MONDO:MONDO:0010247,MedGen:C2026514,Orphanet:139396 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Spastic gait human_phenotype_ontology_hp_0002064_medgen_c0231687 Human_Phenotype_Ontology:HP:0002064,MedGen:C0231687 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Recurrent fever human_phenotype_ontology_hp_0001954_human_phenotype_ontology_hp_0004903_human_phenotype_ontology_hp_0005962_human_phenotype_ontology_hp_0005966_human_phenotype_ontology_hp_0005980_medgen_c3714772 Human_Phenotype_Ontology:HP:0001954,Human_Phenotype_Ontology:HP:0004903,Human_Phenotype_Ontology:HP:0005962,Human_Phenotype_Ontology:HP:0005966,Human_Phenotype_Ontology:HP:0005980,MedGen:C3714772 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Myocarditis human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Likely inborn error of metabolism likely_inborn_error_of_metabolism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 History of neurodevelopmental disorder medgen_c2711754 MedGen:C2711754 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Episodic vomiting human_phenotype_ontology_hp_0002572_medgen_c1838993 Human_Phenotype_Ontology:HP:0002572,MedGen:C1838993 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Encephalitis mondo_mondo_0019956_medgen_c0014038_orphanet_97275 MONDO:MONDO:0019956,MedGen:C0014038,Orphanet:97275 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Ehlers-Danlos syndrome, kyphoscoliotic type 1 mondo_mondo_0016002_medgen_c0268342_omim_225400_orphanet_1900 MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Wolff-Parkinson-White pattern human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Thick upper lip vermilion human_phenotype_ontology_hp_0000215_human_phenotype_ontology_hp_0000231_medgen_c1846423 Human_Phenotype_Ontology:HP:0000215,Human_Phenotype_Ontology:HP:0000231,MedGen:C1846423 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Tapered finger human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Patent ductus arteriosus human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Micrognathia human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Low anterior hairline human_phenotype_ontology_hp_0000294_medgen_c1842366 Human_Phenotype_Ontology:HP:0000294,MedGen:C1842366 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Left ventricular hypertrophy human_phenotype_ontology_hp_0001712_human_phenotype_ontology_hp_0005171_medgen_c0149721 Human_Phenotype_Ontology:HP:0001712,Human_Phenotype_Ontology:HP:0005171,MedGen:C0149721 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Large hands human_phenotype_ontology_hp_0001176_human_phenotype_ontology_hp_0002820_human_phenotype_ontology_hp_0006044_human_phenotype_ontology_hp_0006219_medgen_c0426870 Human_Phenotype_Ontology:HP:0001176,Human_Phenotype_Ontology:HP:0002820,Human_Phenotype_Ontology:HP:0006044,Human_Phenotype_Ontology:HP:0006219,MedGen:C0426870 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Kleefstra syndrome 1 mondo_mondo_0027407_medgen_c0795833_omim_610253_orphanet_261494 MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Joint hypermobility human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Epicanthus human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Depressed nasal bridge human_phenotype_ontology_hp_0000425_human_phenotype_ontology_hp_0000428_human_phenotype_ontology_hp_0000439_human_phenotype_ontology_hp_0000459_human_phenotype_ontology_hp_0004413_human_phenotype_ontology_hp_0004505_human_phenotype_ontology_hp_0004506_human_phenotype_ontology_hp_0004666_human_phenotype_ontology_hp_0005119_human_phenotype_ontology_hp_0005280_human_phenotype_ontology_hp_0005284_medgen_c1836542 Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Coarse facial features human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Bulbous nose human_phenotype_ontology_hp_0000414_human_phenotype_ontology_hp_0000443_medgen_c0240543 Human_Phenotype_Ontology:HP:0000414,Human_Phenotype_Ontology:HP:0000443,MedGen:C0240543 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Abnormality of the face human_phenotype_ontology_hp_0000271_medgen_c4025871 Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Abnormal facial shape human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Small for gestational age human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Short stature human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Neonatal respiratory distress human_phenotype_ontology_hp_0002643_medgen_c4281993 Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Macrotia human_phenotype_ontology_hp_0000382_human_phenotype_ontology_hp_0000386_human_phenotype_ontology_hp_0000400_human_phenotype_ontology_hp_0000401_human_phenotype_ontology_hp_0001755_medgen_c0152421 Human_Phenotype_Ontology:HP:0000382,Human_Phenotype_Ontology:HP:0000386,Human_Phenotype_Ontology:HP:0000400,Human_Phenotype_Ontology:HP:0000401,Human_Phenotype_Ontology:HP:0001755,MedGen:C0152421 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Macrocephaly human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Hypoglycemia human_phenotype_ontology_hp_0001943_human_phenotype_ontology_hp_0003356_mondo_mondo_0004946_medgen_c0020615 Human_Phenotype_Ontology:HP:0001943,Human_Phenotype_Ontology:HP:0003356,MONDO:MONDO:0004946,MedGen:C0020615 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Growth delay human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Gastroesophageal reflux human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Feeding difficulties human_phenotype_ontology_hp_0011968_medgen_c0232466 Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Congestive heart failure human_phenotype_ontology_hp_0001635_human_phenotype_ontology_hp_0006686_mondo_mondo_0005009_medgen_c0018802 Human_Phenotype_Ontology:HP:0001635,Human_Phenotype_Ontology:HP:0006686,MONDO:MONDO:0005009,MedGen:C0018802 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Cardiac shunt human_phenotype_ontology_hp_0001693_medgen_c0232180 Human_Phenotype_Ontology:HP:0001693,MedGen:C0232180 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Autosomal dominant hyperinsulinism due to SUR1 deficiency mondo_mondo_0017184_medgen_c4274080_orphanet_276575 MONDO:MONDO:0017184,MedGen:C4274080,Orphanet:276575 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Atrial septal defect human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 ABCC8-related channelopathies abcc8_related_channelopathies . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Papule human_phenotype_ontology_hp_0200034_medgen_c0332563 Human_Phenotype_Ontology:HP:0200034,MedGen:C0332563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Cutis laxa human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC2 Autosomal recessive inherited pseudoxanthoma elasticum mondo_mondo_0009925_medgen_cn032334_omim_264800_orphanet_758 MONDO:MONDO:0009925,MedGen:CN032334,OMIM:264800,Orphanet:758 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC1 Hearing loss, autosomal dominant 77 mondo_mondo_0030058_medgen_c5394499_omim_618915 MONDO:MONDO:0030058,MedGen:C5394499,OMIM:618915 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB7 Spinocerebellar ataxia, X-linked spinocerebellar_ataxia_x_linked . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB6 Langereis blood group medgen_c3276339_omim_111600 MedGen:C3276339,OMIM:111600 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB6 ABCB6-related disorder abcb6_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Intrahepatic cholestasis human_phenotype_ontology_hp_0001406_mondo_mondo_0019072_medgen_c0008372 Human_Phenotype_Ontology:HP:0001406,MONDO:MONDO:0019072,MedGen:C0008372 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Autosomal recessive ABCB4-related disorders autosomal_recessive_abcb4_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 ABCB4-Related Intrahepatic Cholestasis abcb4_related_intrahepatic_cholestasis . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Pruritus human_phenotype_ontology_hp_0000989_medgen_c0033774 Human_Phenotype_Ontology:HP:0000989,MedGen:C0033774 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Progressive familial intrahepatic cholestasis type 3 mondo_mondo_0011214_medgen_c1865643_omim_602347_orphanet_79305 MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Intrahepatic cholestasis human_phenotype_ontology_hp_0001406_mondo_mondo_0019072_medgen_c0008372 Human_Phenotype_Ontology:HP:0001406,MONDO:MONDO:0019072,MedGen:C0008372 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Cholestasis, progressive familial intrahepatic, 4 mondo_mondo_0014381_medgen_c2931067_omim_615878_orphanet_480483_orphanet_79304 MONDO:MONDO:0014381,MedGen:C2931067,OMIM:615878,Orphanet:480483,Orphanet:79304 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Abnormal liver function tests during pregnancy human_phenotype_ontology_hp_0200148_medgen_c4021883 Human_Phenotype_Ontology:HP:0200148,MedGen:C4021883 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB1 Idiopathic generalized epilepsy mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB1 COLCHICINE RESISTANCE medgen_c1861502_omim_120080 MedGen:C1861502,OMIM:120080 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA8 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA5 condition not provided condition_not_provided . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA5 Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Vitreoretinopathy human_phenotype_ontology_hp_0000655_human_phenotype_ontology_hp_0007773_mondo_mondo_0020248_medgen_c0344290 Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Visual loss human_phenotype_ontology_hp_0000572_medgen_c3665386 Human_Phenotype_Ontology:HP:0000572,MedGen:C3665386 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Syndromic retinitis pigmentosa medgen_c5680332_orphanet_98661 MedGen:C5680332,Orphanet:98661 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Peripheral neuropathy human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Mandibulofacial dysostosis with mental deficiency mondo_mondo_0009559_medgen_c4692584_omim_248400 MONDO:MONDO:0009559,MedGen:C4692584,OMIM:248400 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Leber congenital amaurosis 14 mondo_mondo_0013231_medgen_c2750063_omim_613341 MONDO:MONDO:0013231,MedGen:C2750063,OMIM:613341 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Cone dystrophy and rod monochromatism cone_dystrophy_and_rod_monochromatism . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Blindness human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Bietti crystalline corneoretinal dystrophy mondo_mondo_0008865_medgen_c1859486_omim_210370_orphanet_41751 MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370,Orphanet:41751 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Age-related macular degeneration mondo_mondo_0005150_medgen_c0242383_omim_ps603075 MONDO:MONDO:0005150,MedGen:C0242383,OMIM:PS603075 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Abnormal retinal morphology human_phenotype_ontology_hp_0000479_human_phenotype_ontology_hp_0007901_human_phenotype_ontology_hp_0007938_medgen_c0035300 Human_Phenotype_Ontology:HP:0000479,Human_Phenotype_Ontology:HP:0007901,Human_Phenotype_Ontology:HP:0007938,MedGen:C0035300 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Abnormal macular morphology human_phenotype_ontology_hp_0001103_medgen_c4520679 Human_Phenotype_Ontology:HP:0001103,MedGen:C4520679 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 Loeys-Dietz syndrome mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 Congenital hyperammonemia, type I mondo_mondo_0009376_medgen_c4082171_omim_237300_orphanet_147 MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA2 Ataxia with Dysarthria ataxia_with_dysarthria . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA13 condition not provided condition_not_provided MedGen:CN517202 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA13 Schizophrenia human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA12 Ichthyosis and erythrokeratoderma ichthyosis_and_erythrokeratoderma . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA12 Abnormality of the skin human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Tangier disease, variant tangier_disease_variant . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Neurofibromatosis, type 1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Familial hypoalphalipoproteinemia medgen_c1704429 MedGen:C1704429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Early-onset coronary artery disease medgen_c4229399 MedGen:C4229399 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Decreased HDL cholesterol concentration human_phenotype_ontology_hp_0003233_mondo_mondo_0017773_medgen_c0151691_orphanet_31153 Human_Phenotype_Ontology:HP:0003233,MONDO:MONDO:0017773,MedGen:C0151691,Orphanet:31153 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Autosomal dominant and autosomal recessive ABCA1-related disorders autosomal_dominant_and_autosomal_recessive_abca1_related_disorders . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 ABCA1-related dyslipidemia abca1_related_dyslipidemia . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABAT Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABAT ABAT-related disorder abat_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 Generalized muscle weakness human_phenotype_ontology_hp_0003324_human_phenotype_ontology_hp_0003686_human_phenotype_ontology_hp_0003723_medgen_c0746674 Human_Phenotype_Ontology:HP:0003324,Human_Phenotype_Ontology:HP:0003686,Human_Phenotype_Ontology:HP:0003723,MedGen:C0746674 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Hereditary neuropathy or pain disorder hereditary_neuropathy_or_pain_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Hereditary diffuse leukoencephalopathy with spheroids mondo_mondo_0030796_medgen_c3711381_omim_ps221820_orphanet_313808 MONDO:MONDO:0030796,MedGen:C3711381,OMIM:PS221820,Orphanet:313808 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 AARS1-related disorder aars1_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAR2 Ventricular septal defect human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAR2 Patent foramen ovale human_phenotype_ontology_hp_0001655_mondo_mondo_0020439_medgen_c0016522 Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAR2 Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAR2 Macule human_phenotype_ontology_hp_0012733_medgen_c0332573 Human_Phenotype_Ontology:HP:0012733,MedGen:C0332573 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAR2 Hypoplasia of the corpus callosum human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAR2 Global developmental delay human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAR2 Cerebellar malformation human_phenotype_ontology_hp_0002438_medgen_c4025708_orphanet_182061 Human_Phenotype_Ontology:HP:0002438,MedGen:C4025708,Orphanet:182061 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAR2 Anteriorly placed anus human_phenotype_ontology_hp_0001545_medgen_c1838705 Human_Phenotype_Ontology:HP:0001545,MedGen:C1838705 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAGAB Palmoplantar keratoderma human_phenotype_ontology_hp_0000982_medgen_c4551675 Human_Phenotype_Ontology:HP:0000982,MedGen:C4551675 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAGAB Neoplasm of the endocrine system human_phenotype_ontology_hp_0100568_mondo_mondo_0002082_medgen_c0014132_orphanet_182130 Human_Phenotype_Ontology:HP:0100568,MONDO:MONDO:0002082,MedGen:C0014132,Orphanet:182130 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAGAB AAGAB-related disorder aagab_related_disorder . 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Spastic paraparesis human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Microcephaly human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Hyperreflexia human_phenotype_ontology_hp_0001282_human_phenotype_ontology_hp_0001347_human_phenotype_ontology_hp_0006820_human_phenotype_ontology_hp_0007184_human_phenotype_ontology_hp_0007318_mondo_mondo_0007774_medgen_c0151889_omim_145290 Human_Phenotype_Ontology:HP:0001282,Human_Phenotype_Ontology:HP:0001347,Human_Phenotype_Ontology:HP:0006820,Human_Phenotype_Ontology:HP:0007184,Human_Phenotype_Ontology:HP:0007318,MONDO:MONDO:0007774,MedGen:C0151889,OMIM:145290 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Babinski sign human_phenotype_ontology_hp_0001352_human_phenotype_ontology_hp_0003487_medgen_c0034935 Human_Phenotype_Ontology:HP:0001352,Human_Phenotype_Ontology:HP:0003487,MedGen:C0034935 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Abnormality of the nervous system human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence A4GALT NOR polyagglutination syndrome medgen_c3549486 MedGen:C3549486 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence A2ML1 Otitis media, susceptibility to mondo_mondo_0008162_medgen_c1833692_omim_166760 MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence A2ML1 Otitis media human_phenotype_ontology_hp_0000388_mondo_mondo_0005441_medgen_c0029882 Human_Phenotype_Ontology:HP:0000388,MONDO:MONDO:0005441,MedGen:C0029882 1 1 condition_record_support_limited condition_record_support_limited condition record count below threshold or condition label unavailable low_record_burden_interpretation_limited low_record_burden_gene 0 record-level condition-associated architecture; not patient coverage or disease prevalence HEXB Sandhoff disease mondo_mondo_0010006_medgen_c0036161_omim_268800_orphanet_796 MONDO:MONDO:0010006,MedGen:C0036161,OMIM:268800,Orphanet:796 213 213 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27A1 Cholestanol storage disease mondo_mondo_0008948_medgen_c0238052_omim_213700_orphanet_909 MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909 210 210 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAT1 Deficiency of acetyl-CoA acetyltransferase mondo_mondo_0008760_medgen_c1536500_omim_203750_orphanet_134 MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134 209 209 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGSH Mucopolysaccharidosis, MPS-III-A mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 205 205 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC1 3-methylcrotonyl-CoA carboxylase 1 deficiency mondo_mondo_0008861_medgen_cn028786_omim_210200_orphanet_6 MONDO:MONDO:0008861,MedGen:CN028786,OMIM:210200,Orphanet:6 198 198 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXT2 Exostoses, multiple, type 2 mondo_mondo_0007586_medgen_c1851413_omim_133701_orphanet_321 MONDO:MONDO:0007586,MedGen:C1851413,OMIM:133701,Orphanet:321 197 197 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Glycogen storage disease, type IV mondo_mondo_0009292_medgen_c0017923_omim_232500_orphanet_367 MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367 192 192 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HLCS Holocarboxylase synthetase deficiency mondo_mondo_0009666_medgen_c0268581_omim_253270_orphanet_79242 MONDO:MONDO:0009666,MedGen:C0268581,OMIM:253270,Orphanet:79242 190 190 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTRK1 Hereditary insensitivity to pain with anhidrosis mondo_mondo_0009746_medgen_c0020074_omim_256800_orphanet_642 MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642 189 189 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC2 3-methylcrotonyl-CoA carboxylase 2 deficiency mondo_mondo_0008862_medgen_c1859499_omim_210210_orphanet_6 MONDO:MONDO:0008862,MedGen:C1859499,OMIM:210210,Orphanet:6 189 189 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPG5 Vici syndrome mondo_mondo_0009452_medgen_c1855772_omim_242840_orphanet_1493 MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840,Orphanet:1493 188 188 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TH Autosomal recessive DOPA responsive dystonia mondo_mondo_0011551_medgen_c2673535_omim_605407_orphanet_101150 MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150 185 185 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACSF3 Combined malonic and methylmalonic acidemia mondo_mondo_0013661_medgen_c3280314_omim_614265_orphanet_289504 MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504 185 185 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Congenital amegakaryocytic thrombocytopenia mondo_mondo_0800451_medgen_c1327915_omim_ps604498_orphanet_3319 MONDO:MONDO:0800451,MedGen:C1327915,OMIM:PS604498,Orphanet:3319 184 184 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAH Tyrosinemia type I mondo_mondo_0010161_medgen_c0268490_omim_276700_orphanet_882 MONDO:MONDO:0010161,MedGen:C0268490,OMIM:276700,Orphanet:882 184 184 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC13D Familial hemophagocytic lymphohistiocytosis 3 mondo_mondo_0012146_medgen_c1837174_omim_608898_orphanet_540 MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540 182 182 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPT1A Carnitine palmitoyl transferase 1A deficiency mondo_mondo_0009705_medgen_c1829703_omim_255120_orphanet_156 MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120,Orphanet:156 181 181 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT Mucopolysaccharidosis, MPS-III-C mondo_mondo_0009657_medgen_c0086649_omim_252930_orphanet_581_orphanet_79271 MONDO:MONDO:0009657,MedGen:C0086649,OMIM:252930,Orphanet:581,Orphanet:79271 177 177 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMACHC Cobalamin C disease mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 176 176 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA Autosomal recessive limb-girdle muscular dystrophy type 2D mondo_mondo_0011968_medgen_c2936332_omim_608099_orphanet_62 MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099,Orphanet:62 175 175 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PC Pyruvate carboxylase deficiency mondo_mondo_0009949_medgen_c0034341_omim_266150_orphanet_3008 MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008 175 175 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 Spongy degeneration of central nervous system mondo_mondo_0010079_medgen_c0206307_omim_271900_orphanet_141 MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141 173 173 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DMPK Steinert myotonic dystrophy syndrome mondo_mondo_0008056_medgen_c3250443_omim_160900_orphanet_273 MONDO:MONDO:0008056,MedGen:C3250443,OMIM:160900,Orphanet:273 173 173 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPA Spongy degeneration of central nervous system mondo_mondo_0010079_medgen_c0206307_omim_271900_orphanet_141 MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141 173 173 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 Neuronal ceroid lipofuscinosis 1 mondo_mondo_0009744_medgen_c1850451_omim_256730_orphanet_228329 MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329 172 172 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH7A1 Pyridoxine-dependent epilepsy mondo_mondo_0009945_medgen_c1849508_omim_266100_orphanet_3006 MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006 170 170 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1 mondo_mondo_0013563_medgen_c3279775_omim_614080_orphanet_280633 MONDO:MONDO:0013563,MedGen:C3279775,OMIM:614080,Orphanet:280633 169 169 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC1 Glycogen storage disease due to glucose-6-phosphatase deficiency type IA mondo_mondo_0009287_medgen_c2919796_omim_232200_orphanet_364_orphanet_79258 MONDO:MONDO:0009287,MedGen:C2919796,OMIM:232200,Orphanet:364,Orphanet:79258 168 168 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency mondo_mondo_0009353_medgen_c1856061_omim_236250_orphanet_395 MONDO:MONDO:0009353,MedGen:C1856061,OMIM:236250,Orphanet:395 167 167 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCM Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 167 167 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A8 Creatine transporter deficiency mondo_mondo_0010305_medgen_c1845862_omim_300352_orphanet_52503 MONDO:MONDO:0010305,MedGen:C1845862,OMIM:300352,Orphanet:52503 165 165 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IVD Isovaleryl-CoA dehydrogenase deficiency mondo_mondo_0009475_medgen_c0268575_omim_243500_orphanet_33 MONDO:MONDO:0009475,MedGen:C0268575,OMIM:243500,Orphanet:33 165 165 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Hereditary sensory and autonomic neuropathy type 6 mondo_mondo_0013839_medgen_c3539003_omim_614653_orphanet_314381 MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381 165 165 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Hereditary spastic paraplegia 7 mondo_mondo_0011803_medgen_c1846564_omim_607259_orphanet_99013 MONDO:MONDO:0011803,MedGen:C1846564,OMIM:607259,Orphanet:99013 163 163 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS Wiskott-Aldrich syndrome mondo_mondo_0010518_medgen_c0043194_omim_301000_orphanet_906 MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906 162 162 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency mondo_mondo_0007064_medgen_c0392607_omim_102700_orphanet_277 MONDO:MONDO:0007064,MedGen:C0392607,OMIM:102700,Orphanet:277 161 161 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRBA Combined immunodeficiency due to LRBA deficiency mondo_mondo_0013863_medgen_c3553512_omim_614700_orphanet_445018 MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700,Orphanet:445018 160 160 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBB Granulomatous disease, chronic, X-linked mondo_mondo_0010600_medgen_c1844376_omim_306400_orphanet_379 MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379 159 159 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR45 Neurodegeneration with brain iron accumulation 5 mondo_mondo_0010476_medgen_c3550973_omim_300894_orphanet_329284 MONDO:MONDO:0010476,MedGen:C3550973,OMIM:300894,Orphanet:329284 158 158 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCAL1 Schimke immuno-osseous dysplasia mondo_mondo_0009458_medgen_c0877024_omim_242900_orphanet_1830 MONDO:MONDO:0009458,MedGen:C0877024,OMIM:242900,Orphanet:1830 156 156 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A7 Lysinuric protein intolerance mondo_mondo_0009109_medgen_c0268647_omim_222700_orphanet_470 MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470 155 155 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 154 154 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELN Supravalvar aortic stenosis human_phenotype_ontology_hp_0004381_mondo_mondo_0008504_medgen_c0003499_omim_185500_orphanet_3193 Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193 154 154 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Congenital muscular hypertrophy-cerebral syndrome mondo_mondo_0010370_medgen_c1802395_omim_300590_orphanet_199 MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590,Orphanet:199 153 153 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 Tumor predisposition syndrome 3 mondo_mondo_0014368_medgen_c4014476_omim_615848_orphanet_618 MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618 153 153 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DST Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency mondo_mondo_0014180_medgen_c3809470_omim_615425_orphanet_412181 MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181 153 153 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 153 153 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 152 152 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Leber congenital amaurosis 6 mondo_mondo_0013446_medgen_c1854260_omim_613826_orphanet_65 MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65 150 150 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OAT Ornithine aminotransferase deficiency mondo_mondo_0009796_medgen_c0018425_omim_258870_orphanet_414 MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414 149 149 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Autosomal recessive distal spinal muscular atrophy 1 mondo_mondo_0011436_medgen_c1858517_omim_604320_orphanet_98920 MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920 149 149 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHA Maple syrup urine disease mondo_mondo_0009563_mesh_d008375_medgen_c0024776_omim_ps248600_orphanet_511 MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511 149 149 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A5 Salla disease mondo_mondo_0011449_medgen_c1096903_omim_604369_orphanet_309334_orphanet_834 MONDO:MONDO:0011449,MedGen:C1096903,OMIM:604369,Orphanet:309334,Orphanet:834 148 148 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH8 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 148 148 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG6 ALG6-congenital disorder of glycosylation 1C mondo_mondo_0011291_medgen_c2930997_omim_603147_orphanet_79320 MONDO:MONDO:0011291,MedGen:C2930997,OMIM:603147,Orphanet:79320 148 148 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Glanzmann thrombasthenia mondo_mondo_0100326_medgen_c0040015_omim_ps273800_orphanet_849 MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:849 147 147 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPI MPI-congenital disorder of glycosylation mondo_mondo_0011257_medgen_c1865145_omim_602579_orphanet_79319 MONDO:MONDO:0011257,MedGen:C1865145,OMIM:602579,Orphanet:79319 146 146 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG Fanconi anemia complementation group G mondo_mondo_0013565_medgen_c3469527_omim_614082_orphanet_84 MONDO:MONDO:0013565,MedGen:C3469527,OMIM:614082,Orphanet:84 146 146 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Bethlem myopathy 1A mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 145 145 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Autosomal recessive limb-girdle muscular dystrophy type 2L mondo_mondo_0012652_medgen_c1969785_omim_611307_orphanet_206549 MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549 145 145 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPRED1 Legius syndrome mondo_mondo_0012669_medgen_c1969623_omim_611431_orphanet_137605 MONDO:MONDO:0012669,MedGen:C1969623,OMIM:611431,Orphanet:137605 142 142 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Charcot-Marie-Tooth disease, type I mondo_mondo_0019011_medgen_c0751036_orphanet_65753 MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 142 142 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFM1 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 mondo_mondo_0012191_medgen_c1836797_omim_609060_orphanet_137681 MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060,Orphanet:137681 142 142 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC39 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 142 142 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Gnathodiaphyseal dysplasia mondo_mondo_0008151_medgen_c1833736_omim_166260_orphanet_53697 MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697 142 142 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive mondo_mondo_0011086_medgen_c1832322_omim_601457_orphanet_331206 MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206 141 141 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Joubert syndrome 23 mondo_mondo_0014664_medgen_c4084822_omim_616490_orphanet_475 MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475 141 141 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL2RG X-linked severe combined immunodeficiency mondo_mondo_0010315_medgen_c1279481_omim_300400_orphanet_276 MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276 141 141 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYD Dihydropyrimidine dehydrogenase deficiency mondo_mondo_0010130_medgen_c1959620_omim_274270_orphanet_1675 MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:1675 141 141 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC Xeroderma pigmentosum, group C mondo_mondo_0010211_medgen_c2752147_omim_278720_orphanet_910 MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910 140 140 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 Neuronal ceroid lipofuscinosis 2 mondo_mondo_0008769_medgen_c1876161_omim_204500_orphanet_168491_orphanet_228349_orphanet_79264 MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264 140 140 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGHMBP2 Charcot-Marie-Tooth disease axonal type 2S mondo_mondo_0014511_medgen_c4015349_omim_616155_orphanet_443073 MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073 140 140 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH5A1 Succinate-semialdehyde dehydrogenase deficiency mondo_mondo_0010083_medgen_c0268631_omim_271980_orphanet_22 MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980,Orphanet:22 140 140 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRHPR Primary hyperoxaluria, type II mondo_mondo_0009824_medgen_c0268165_omim_260000_orphanet_416_orphanet_93599 MONDO:MONDO:0009824,MedGen:C0268165,OMIM:260000,Orphanet:416,Orphanet:93599 139 139 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 Neuronal ceroid lipofuscinosis 3 mondo_mondo_0008767_medgen_c0751383_omim_204200_orphanet_228346 MONDO:MONDO:0008767,MedGen:C0751383,OMIM:204200,Orphanet:228346 139 139 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Bethlem myopathy 1A mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 138 138 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFH Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 138 138 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH3A2 Sjögren-Larsson syndrome mondo_mondo_0010031_medgen_c0037231_omim_270200_orphanet_816 MONDO:MONDO:0010031,MedGen:C0037231,OMIM:270200,Orphanet:816 138 138 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Neuropathy, hereditary sensory and autonomic, type 2A mondo_mondo_0024309_medgen_c2752089_omim_201300_orphanet_970 MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970 137 137 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 Oligodontia-cancer predisposition syndrome mondo_mondo_0012075_medgen_c1837750_omim_608615_orphanet_300576 MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576 137 137 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Leber congenital amaurosis 13 mondo_mondo_0012990_medgen_c2675186_omim_612712 MONDO:MONDO:0012990,MedGen:C2675186,OMIM:612712 136 136 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAA Methylmalonic aciduria, cblA type mondo_mondo_0009613_medgen_c1855109_omim_251100_orphanet_28_orphanet_79310 MONDO:MONDO:0009613,MedGen:C1855109,OMIM:251100,Orphanet:28,Orphanet:79310 136 136 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Leber congenital amaurosis 13 mondo_mondo_0012990_medgen_c2675186_omim_612712 MONDO:MONDO:0012990,MedGen:C2675186,OMIM:612712 136 136 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCG Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 136 136 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 Hereditary factor XI deficiency disease mondo_mondo_0012897_mesh_d005173_medgen_c0015523_omim_612416_orphanet_329 MONDO:MONDO:0012897,MeSH:D005173,MedGen:C0015523,OMIM:612416,Orphanet:329 136 136 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLD Pyruvate dehydrogenase E3 deficiency mondo_mondo_0009529_medgen_c5574660_omim_246900_orphanet_2394_orphanet_765 MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765 136 136 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDOB Hereditary fructosuria human_phenotype_ontology_hp_0005973_mondo_mondo_0009249_medgen_c0016751_omim_229600_orphanet_469 Human_Phenotype_Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469 136 136 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINC1 Hereditary antithrombin deficiency human_phenotype_ontology_hp_0001976_mondo_mondo_0013144_medgen_c0272375_omim_613118_orphanet_82 Human_Phenotype_Ontology:HP:0001976,MONDO:MONDO:0013144,MedGen:C0272375,OMIM:613118,Orphanet:82 135 135 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 mondo_mondo_0013159_medgen_c5436962_omim_613155 MONDO:MONDO:0013159,MedGen:C5436962,OMIM:613155 135 135 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Autosomal recessive limb-girdle muscular dystrophy type 2K mondo_mondo_0012248_medgen_c1836373_omim_609308_orphanet_86812 MONDO:MONDO:0012248,MedGen:C1836373,OMIM:609308,Orphanet:86812 135 135 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRR Methylcobalamin deficiency type cblE mondo_mondo_0009354_medgen_c1856057_omim_236270_orphanet_2169_orphanet_622 MONDO:MONDO:0009354,MedGen:C1856057,OMIM:236270,Orphanet:2169,Orphanet:622 135 135 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARG1 Arginase deficiency mondo_mondo_0008814_medgen_c0268548_omim_207800_orphanet_90 MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90 135 135 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Trichorhinophalangeal dysplasia type I mondo_mondo_0008596_medgen_c0432233_omim_190350_orphanet_77258 MONDO:MONDO:0008596,MedGen:C0432233,OMIM:190350,Orphanet:77258 134 134 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Generalized epilepsy with febrile seizures plus, type 7 mondo_mondo_0013470_medgen_c2751778_omim_613863_orphanet_36387 MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387 134 134 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome mondo_mondo_1060108_medgen_c4015357_omim_616158_orphanet_438213_orphanet_438216 MONDO:MONDO:1060108,MedGen:C4015357,OMIM:616158,Orphanet:438213,Orphanet:438216 134 134 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Intellectual disability, autosomal dominant 9 mondo_mondo_0013656_medgen_c5393830_omim_614255_orphanet_662367 MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367 134 134 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Combined immunodeficiency with skin granulomas mondo_mondo_0009306_medgen_c2673536_omim_233650_orphanet_157949 MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949 133 133 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence P3H1 Osteogenesis imperfecta type 8 mondo_mondo_0012581_medgen_c1970458_omim_610915 MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915 133 133 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Glycogen storage disease IV, classic hepatic medgen_c1856301 MedGen:C1856301 133 133 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUMF1 Multiple sulfatase deficiency mondo_mondo_0010088_medgen_c0268263_omim_272200_orphanet_585 MONDO:MONDO:0010088,MedGen:C0268263,OMIM:272200,Orphanet:585 132 132 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A1 Epilepsy with myoclonic atonic seizures human_phenotype_ontology_hp_0011170_mondo_mondo_0014633_medgen_c0393702_omim_616421_orphanet_1942 Human_Phenotype_Ontology:HP:0011170,MONDO:MONDO:0014633,MedGen:C0393702,OMIM:616421,Orphanet:1942 132 132 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCE Myoclonic dystonia 11 mondo_mondo_0008044_medgen_c1834570_omim_159900_orphanet_36899 MONDO:MONDO:0008044,MedGen:C1834570,OMIM:159900,Orphanet:36899 132 132 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 132 132 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Neuronal ceroid lipofuscinosis 7 mondo_mondo_0012588_medgen_c1838571_omim_610951_orphanet_168491_orphanet_228366 MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951,Orphanet:168491,Orphanet:228366 132 132 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMT Glycine encephalopathy human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 132 132 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 Citrin deficiency mondo_mondo_0016602_medgen_c1997910_orphanet_247582 MONDO:MONDO:0016602,MedGen:C1997910,Orphanet:247582 131 131 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Hereditary spastic paraplegia 30 mondo_mondo_0012476_medgen_c5235139_orphanet_101010 MONDO:MONDO:0012476,MedGen:C5235139,Orphanet:101010 131 131 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Retinitis pigmentosa 71 mondo_mondo_0014618_medgen_c4225342_omim_616394_orphanet_791 MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791 131 131 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Nephropathic cystinosis mondo_mondo_0100151_medgen_c2931187_omim_219800_orphanet_213_orphanet_411629 MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629 131 131 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 mondo_mondo_0013154_medgen_c3150411_omim_613150_orphanet_588_orphanet_899 MONDO:MONDO:0013154,MedGen:C3150411,OMIM:613150,Orphanet:588,Orphanet:899 130 130 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PFKM Glycogen storage disease, type VII mondo_mondo_0009295_medgen_c0017926_omim_232800_orphanet_371 MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371 130 130 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP164 Nephronophthisis 15 mondo_mondo_0013917_medgen_c3541853_omim_614845_orphanet_3156 MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156 130 130 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Short-rib thoracic dysplasia 10 with or without polydactyly mondo_mondo_0014284_medgen_c3810175_omim_615630_orphanet_474 MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474 129 129 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCB Autosomal recessive limb-girdle muscular dystrophy type 2E mondo_mondo_0011423_medgen_c1858593_omim_604286_orphanet_119 MONDO:MONDO:0011423,MedGen:C1858593,OMIM:604286,Orphanet:119 128 128 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PANK2 Pigmentary pallidal degeneration mondo_mondo_0009319_medgen_c0018523_omim_234200_orphanet_157850 MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200,Orphanet:157850 128 128 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JAK3 T-B+ severe combined immunodeficiency due to JAK3 deficiency mondo_mondo_0010938_medgen_c1833275_omim_600802_orphanet_35078 MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078 128 128 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B1 Deficiency of steroid 11-beta-monooxygenase mondo_mondo_0008729_medgen_c0268292_omim_202010_orphanet_90795 MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795 128 128 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Retinitis pigmentosa 26 mondo_mondo_0012024_medgen_c1842127_omim_608380_orphanet_791 MONDO:MONDO:0012024,MedGen:C1842127,OMIM:608380,Orphanet:791 128 128 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASD1 Myoclonic dystonia 11 mondo_mondo_0008044_medgen_c1834570_omim_159900_orphanet_36899 MONDO:MONDO:0008044,MedGen:C1834570,OMIM:159900,Orphanet:36899 128 128 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Congenital myasthenic syndrome 4A mondo_mondo_0011600_medgen_c4225413_omim_605809_orphanet_590 MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590 128 128 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBT Maple syrup urine disease mondo_mondo_0009563_mesh_d008375_medgen_c0024776_omim_ps248600_orphanet_511 MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511 127 127 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Essential thrombocythemia mondo_mondo_0005029_mesh_d013920_medgen_c0040028_orphanet_3318 MONDO:MONDO:0005029,MeSH:D013920,MedGen:C0040028,Orphanet:3318 125 125 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIAA0586 Short-rib thoracic dysplasia 14 with polydactyly mondo_mondo_0014688_medgen_c4225286_omim_616546_orphanet_397715 MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715 125 125 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type mondo_mondo_0009161_medgen_c2700425_omim_225410_orphanet_1901 MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901 125 125 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Infantile neuroaxonal dystrophy mondo_mondo_0024457_medgen_c0270724_omim_256600_orphanet_35069 MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069 124 124 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HGSNAT Retinitis pigmentosa 73 mondo_mondo_0014687_medgen_c4225287_omim_616544_orphanet_791 MONDO:MONDO:0014687,MedGen:C4225287,OMIM:616544,Orphanet:791 124 124 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD9 Acyl-CoA dehydrogenase 9 deficiency mondo_mondo_0012624_medgen_c4747517_omim_611126_orphanet_99901 MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901 124 124 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Mucolipidosis type IV mondo_mondo_0009653_medgen_c0238286_omim_252650_orphanet_578 MONDO:MONDO:0009653,MedGen:C0238286,OMIM:252650,Orphanet:578 123 123 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Dyskeratosis congenita, autosomal dominant 2 mondo_mondo_0013521_medgen_c3151443_omim_613989 MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989 122 122 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Leigh syndrome mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 122 122 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Hyperkalemic periodic paralysis human_phenotype_ontology_hp_0007215_mondo_mondo_0008224_medgen_c0238357_omim_170500_orphanet_682 Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682 122 122 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Walker-Warburg congenital muscular dystrophy mondo_mondo_0000171_medgen_c0265221_omim_ps236670_orphanet_899 MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899 122 122 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAREM2 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency mondo_mondo_0012173_medgen_c3711645_omim_609016_orphanet_5 MONDO:MONDO:0012173,MedGen:C3711645,OMIM:609016,Orphanet:5 122 122 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C Severe combined immunodeficiency due to DCLRE1C deficiency mondo_mondo_0011225_medgen_c1865370_omim_602450_orphanet_275 MONDO:MONDO:0011225,MedGen:C1865370,OMIM:602450,Orphanet:275 122 122 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 mondo_mondo_0013155_medgen_c3150412_omim_613151 MONDO:MONDO:0013155,MedGen:C3150412,OMIM:613151 121 121 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Autosomal recessive limb-girdle muscular dystrophy type 2O mondo_mondo_0013161_medgen_c3150417_omim_613157_orphanet_206564 MONDO:MONDO:0013161,MedGen:C3150417,OMIM:613157,Orphanet:206564 121 121 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOD1 Amyotrophic lateral sclerosis type 1 mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 121 121 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED23 Arginase deficiency mondo_mondo_0008814_medgen_c0268548_omim_207800_orphanet_90 MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90 121 121 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3A Tatton-Brown-Rahman overgrowth syndrome mondo_mondo_0014382_medgen_c4014545_omim_615879_orphanet_404443 MONDO:MONDO:0014382,MedGen:C4014545,OMIM:615879,Orphanet:404443 121 121 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 121 121 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECPR2 Hereditary spastic paraplegia 49 mondo_mondo_0014016_medgen_c3542549_omim_615031_orphanet_320385 MONDO:MONDO:0014016,MedGen:C3542549,OMIM:615031,Orphanet:320385 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLX4 Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMHD1 Aicardi-Goutieres syndrome 5 mondo_mondo_0013059_medgen_c2749659_omim_612952_orphanet_51 MONDO:MONDO:0013059,MedGen:C2749659,OMIM:612952,Orphanet:51 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Cone-rod dystrophy 13 mondo_mondo_0011987_medgen_c2750720_omim_608194_orphanet_1872 MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 Familial hemophagocytic lymphohistiocytosis 2 mondo_mondo_0011337_medgen_c1863727_omim_603553_orphanet_540 MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAFAH1B1 Lissencephaly due to LIS1 mutation mondo_mondo_0011830_medgen_c4749301_omim_607432_orphanet_95232 MONDO:MONDO:0011830,MedGen:C4749301,OMIM:607432,Orphanet:95232 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6A Kabuki syndrome 2 mondo_mondo_0010465_medgen_c3275495_omim_300867_orphanet_2322 MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Dilated cardiomyopathy 1HH mondo_mondo_0013479_medgen_c3151293_omim_613881_orphanet_154 MONDO:MONDO:0013479,MedGen:C3151293,OMIM:613881,Orphanet:154 120 120 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS Thrombocytopenia 1 mondo_mondo_0010743_medgen_c1839163_omim_313900_orphanet_268322_orphanet_852 MONDO:MONDO:0010743,MedGen:C1839163,OMIM:313900,Orphanet:268322,Orphanet:852 119 119 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC3A1 Cystinuria human_phenotype_ontology_hp_0003131_mondo_mondo_0009067_medgen_c0010691_omim_220100_orphanet_214 Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214 119 119 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Chromosome 2q32-q33 deletion syndrome mondo_mondo_0012864_medgen_c2676739_omim_612313_orphanet_251019 MONDO:MONDO:0012864,MedGen:C2676739,OMIM:612313,Orphanet:251019 119 119 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Nephrotic syndrome, type 2 mondo_mondo_0010974_medgen_c1868672_omim_600995_orphanet_656 MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656 119 119 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN Imerslund-Grasbeck syndrome mondo_mondo_0009853_medgen_c4551825_omim_ps261100_orphanet_35858 MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858 119 119 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Bardet-Biedl syndrome 12 mondo_mondo_0014440_medgen_c1859570_omim_615989_orphanet_110 MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989,Orphanet:110 119 119 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS12 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 119 119 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPRL3 Epilepsy, familial focal, with variable foci 3 mondo_mondo_0014925_medgen_c4310708_omim_617118 MONDO:MONDO:0014925,MedGen:C4310708,OMIM:617118 118 118 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Ocular cystinosis mondo_mondo_0009064_medgen_c2931013_omim_219750_orphanet_213_orphanet_411641 MONDO:MONDO:0009064,MedGen:C2931013,OMIM:219750,Orphanet:213,Orphanet:411641 118 118 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Senior-Loken syndrome 8 mondo_mondo_0014579_medgen_c4225376_omim_616307_orphanet_3156 MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156 117 117 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAS X-linked severe congenital neutropenia mondo_mondo_0010294_medgen_c1845987_omim_300299_orphanet_86788 MONDO:MONDO:0010294,MedGen:C1845987,OMIM:300299,Orphanet:86788 117 117 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 mondo_mondo_0009667_medgen_c3151519_omim_253280 MONDO:MONDO:0009667,MedGen:C3151519,OMIM:253280 117 117 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HOGA1 Primary hyperoxaluria type 3 mondo_mondo_0013327_medgen_c3150878_omim_613616_orphanet_416_orphanet_93600 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600 117 117 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 117 117 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Pelizaeus-Merzbacher disease human_phenotype_ontology_hp_0003269_mondo_mondo_0010714_medgen_c0205711_omim_312080_orphanet_702 Human_Phenotype_Ontology:HP:0003269,MONDO:MONDO:0010714,MedGen:C0205711,OMIM:312080,Orphanet:702 116 116 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Pelizaeus-Merzbacher disease human_phenotype_ontology_hp_0003269_mondo_mondo_0010714_medgen_c0205711_omim_312080_orphanet_702 Human_Phenotype_Ontology:HP:0003269,MONDO:MONDO:0010714,MedGen:C0205711,OMIM:312080,Orphanet:702 116 116 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKB Glycogen storage disease IXb mondo_mondo_0009868_medgen_c0543514_omim_261750_orphanet_79240 MONDO:MONDO:0009868,MedGen:C0543514,OMIM:261750,Orphanet:79240 116 116 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Familial melanoma mondo_mondo_0018961_medgen_c1512419_orphanet_618 MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 116 116 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOX12B Autosomal recessive congenital ichthyosis 2 mondo_mondo_0009439_medgen_c3888093_omim_242100_orphanet_281122_orphanet_79394 MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394 116 116 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Asphyxiating thoracic dystrophy 5 mondo_mondo_0013717_medgen_c3280598_omim_614376_orphanet_474 MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474 115 115 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYMP Mitochondrial DNA depletion syndrome 1 mondo_mondo_0011283_medgen_c4551995_omim_603041_orphanet_298 MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298 115 115 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFR2 Hemochromatosis type 3 mondo_mondo_0011417_medgen_c1858664_omim_604250_orphanet_225123 MONDO:MONDO:0011417,MedGen:C1858664,OMIM:604250,Orphanet:225123 115 115 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX3 Waardenburg syndrome type 1 mondo_mondo_0008670_medgen_c1847800_omim_193500_orphanet_894 MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894 115 115 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 115 115 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Waardenburg syndrome type 2A mondo_mondo_0008671_medgen_c1860339_omim_193510_orphanet_3440 MONDO:MONDO:0008671,MedGen:C1860339,OMIM:193510,Orphanet:3440 115 115 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Spermatogenic failure 18 mondo_mondo_0054615_medgen_c4539783_omim_617576 MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576 115 115 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGA Aspartylglucosaminuria human_phenotype_ontology_hp_0012068_mondo_mondo_0008830_medgen_c0268225_omim_208400_orphanet_93 Human_Phenotype_Ontology:HP:0012068,MONDO:MONDO:0008830,MedGen:C0268225,OMIM:208400,Orphanet:93 115 115 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Idiopathic Pulmonary Fibrosis mondo_mondo_0800504_mesh_d054990_medgen_c1800706_orphanet_2032 MONDO:MONDO:0800504,MeSH:D054990,MedGen:C1800706,Orphanet:2032 114 114 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 Deficiency of galactokinase mondo_mondo_0009255_medgen_c0268155_omim_230200_orphanet_352_orphanet_79237 MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237 114 114 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH1 Ciliary dyskinesia, primary, 37 mondo_mondo_0033204_medgen_c4539798_omim_617577 MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577 114 114 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Juvenile nephropathic cystinosis mondo_mondo_0009066_medgen_c0268626_omim_219900_orphanet_213_orphanet_411634 MONDO:MONDO:0009066,MedGen:C0268626,OMIM:219900,Orphanet:213,Orphanet:411634 114 114 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSPP1 Joubert syndrome 21 mondo_mondo_0014288_medgen_c3810212_omim_615636 MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636 114 114 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome mondo_mondo_0014606_medgen_c4225351_omim_616364_orphanet_468678 MONDO:MONDO:0014606,MedGen:C4225351,OMIM:616364,Orphanet:468678 113 113 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTC1 Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 113 113 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMP2 Danon disease mondo_mondo_0010281_medgen_c0878677_omim_300257_orphanet_34587 MONDO:MONDO:0010281,MedGen:C0878677,OMIM:300257,Orphanet:34587 112 112 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Combined immunodeficiency with skin granulomas mondo_mondo_0009306_medgen_c2673536_omim_233650_orphanet_157949 MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949 111 111 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 mondo_mondo_0013160_medgen_c3150416_omim_613156 MONDO:MONDO:0013160,MedGen:C3150416,OMIM:613156 111 111 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX12 Peroxisome biogenesis disorder 3A (Zellweger) mondo_mondo_0013927_medgen_c3553929_omim_614859_orphanet_912 MONDO:MONDO:0013927,MedGen:C3553929,OMIM:614859,Orphanet:912 111 111 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGS Hyperammonemia, type III mondo_mondo_0009377_medgen_c0268543_omim_237310_orphanet_927 MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927 111 111 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXL2 Blepharophimosis, ptosis, and epicanthus inversus syndrome mondo_mondo_0007201_medgen_c0220663_omim_110100_orphanet_126 MONDO:MONDO:0007201,MedGen:C0220663,OMIM:110100,Orphanet:126 111 111 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC1 Axenfeld-Rieger syndrome type 3 mondo_mondo_0011233_medgen_c2678503_omim_602482_orphanet_782 MONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482,Orphanet:782 111 111 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 ALG1-congenital disorder of glycosylation mondo_mondo_0012052_medgen_c2931005_omim_608540_orphanet_79327 MONDO:MONDO:0012052,MedGen:C2931005,OMIM:608540,Orphanet:79327 111 111 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTTP Abetalipoproteinaemia human_phenotype_ontology_hp_0008181_mondo_mondo_0008692_medgen_c0000744_omim_200100_orphanet_14 Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14 110 110 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1C Beckwith-Wiedemann syndrome mondo_mondo_0007534_medgen_c0004903_omim_130650_orphanet_116 MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116 110 110 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Parathyroid carcinoma human_phenotype_ontology_hp_0006780_mondo_mondo_0012004_medgen_c0687150_omim_608266_orphanet_143 Human_Phenotype_Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266,Orphanet:143 110 110 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT2 Autosomal recessive limb-girdle muscular dystrophy type 2N mondo_mondo_0013162_medgen_c3150418_omim_613158_orphanet_206559 MONDO:MONDO:0013162,MedGen:C3150418,OMIM:613158,Orphanet:206559 109 109 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH2 Myopathy, proximal, and ophthalmoplegia mondo_mondo_0011577_medgen_c1854106_omim_605637_orphanet_363677_orphanet_79091 MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091 109 109 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS1 Hermansky-Pudlak syndrome 1 mondo_mondo_0008748_medgen_c2931875_omim_203300_orphanet_231500_orphanet_79430 MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430 109 109 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAMT Deficiency of guanidinoacetate methyltransferase mondo_mondo_0012999_medgen_c0574080_omim_612736_orphanet_382 MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382 109 109 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Congenital myasthenic syndrome 10 mondo_mondo_0009690_medgen_c1850792_omim_254300_orphanet_590 MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590 109 109 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DES Desmin-related myofibrillar myopathy mondo_mondo_0011076_medgen_c1832370_omim_601419_orphanet_363543_orphanet_98909 MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419,Orphanet:363543,Orphanet:98909 109 109 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Dystonia 12 mondo_mondo_0007496_medgen_c1868681_omim_128235_orphanet_71517 MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517 109 109 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 108 108 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHIP PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome mondo_mondo_0035133_medgen_c4693860_omim_617991_orphanet_589905 MONDO:MONDO:0035133,MedGen:C4693860,OMIM:617991,Orphanet:589905 107 107 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMAB Methylmalonic aciduria, cblB type mondo_mondo_0009614_medgen_c1855102_omim_251110_orphanet_28_orphanet_79311 MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311 107 107 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSK Pyknodysostosis mondo_mondo_0009940_medgen_c0238402_omim_265800_orphanet_763 MONDO:MONDO:0009940,MedGen:C0238402,OMIM:265800,Orphanet:763 107 107 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Pheochromocytoma human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 106 106 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MANBA Beta-D-mannosidosis mondo_mondo_0009562_medgen_c4048196_omim_248510_orphanet_118 MONDO:MONDO:0009562,MedGen:C4048196,OMIM:248510,Orphanet:118 106 106 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM161A Retinitis pigmentosa 28 mondo_mondo_0011630_medgen_c1419614_omim_606068_orphanet_791 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791 106 106 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Myofibrillar myopathy 6 mondo_mondo_0013061_medgen_c2751831_omim_612954_orphanet_199340 MONDO:MONDO:0013061,MedGen:C2751831,OMIM:612954,Orphanet:199340 106 106 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP Fanconi anemia complementation group C mondo_mondo_0009213_medgen_c3468041_omim_227645_orphanet_84 MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84 106 106 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFR2 Hereditary hemochromatosis mondo_mondo_0006507_medgen_c0392514_omim_ps235200 MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 Citrullinemia, type II, adult-onset mondo_mondo_0011326_medgen_cn295299_omim_603471_orphanet_247585 MONDO:MONDO:0011326,MedGen:CN295299,OMIM:603471,Orphanet:247585 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Alzheimer disease 3 mondo_mondo_0011913_medgen_c1843013_omim_607822_orphanet_1020 MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822,Orphanet:1020 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIG4 DNA ligase IV deficiency mondo_mondo_0011686_medgen_c1847827_omim_606593_orphanet_99812 MONDO:MONDO:0011686,MedGen:C1847827,OMIM:606593,Orphanet:99812 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP1 Intellectual disability-severe speech delay-mild dysmorphism syndrome mondo_mondo_0013352_medgen_c4013764_omim_613670_orphanet_391372 MONDO:MONDO:0013352,MedGen:C4013764,OMIM:613670,Orphanet:391372 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP17A1 Deficiency of steroid 17-alpha-monooxygenase mondo_mondo_0008730_medgen_c0268285_omim_202110_orphanet_90793 MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Leber congenital amaurosis 7 mondo_mondo_0013449_medgen_c3151192_omim_613829_orphanet_65 MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829,Orphanet:65 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN5 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 105 105 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCG Autosomal recessive limb-girdle muscular dystrophy type 2C mondo_mondo_0009677_medgen_c0410173_omim_253700_orphanet_353 MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700,Orphanet:353 104 104 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SELENON Eichsfeld type congenital muscular dystrophy mondo_mondo_0011271_medgen_c0410180_omim_602771 MONDO:MONDO:0011271,MedGen:C0410180,OMIM:602771 104 104 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive mondo_mondo_0011086_medgen_c1832322_omim_601457_orphanet_331206 MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206 104 104 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B1 Congenital adrenal hypoplasia, X-linked mondo_mondo_0010264_medgen_c0342482_omim_300200_orphanet_95702 MONDO:MONDO:0010264,MedGen:C0342482,OMIM:300200,Orphanet:95702 104 104 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPU Developmental and epileptic encephalopathy, 54 mondo_mondo_0033363_medgen_c4479319_omim_617391 MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 104 104 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Usher syndrome type 1C mondo_mondo_0010171_medgen_c1848604_omim_276904_orphanet_231169_orphanet_886 MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886 103 103 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1C Autosomal recessive nonsyndromic hearing loss 18A mondo_mondo_0011192_medgen_c1865870_omim_602092_orphanet_90636 MONDO:MONDO:0011192,MedGen:C1865870,OMIM:602092,Orphanet:90636 103 103 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Carney-Stratakis syndrome mondo_mondo_0011740_medgen_c1847319_omim_606864_orphanet_97286 MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286 103 103 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Greig cephalopolysyndactyly syndrome mondo_mondo_0008287_medgen_c0265306_omim_175700_orphanet_380 MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380 103 103 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK8 Combined immunodeficiency due to DOCK8 deficiency mondo_mondo_0009478_medgen_c4722305_omim_243700_orphanet_217390 MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390 103 103 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI2 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 103 103 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN Imerslund-Grasbeck syndrome type 1 mondo_mondo_0100156_medgen_c4016819_omim_261100 MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100 103 103 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 103 103 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 102 102 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLC1 Megalencephalic leukoencephalopathy with subcortical cysts 1 mondo_mondo_0024555_medgen_c5779875_omim_604004_orphanet_2478 MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004,Orphanet:2478 102 102 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 102 102 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GUSB Mucopolysaccharidosis type 7 mondo_mondo_0009662_medgen_c0085132_omim_253220_orphanet_584 MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220,Orphanet:584 102 102 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN Walker-Warburg congenital muscular dystrophy mondo_mondo_0000171_medgen_c0265221_omim_ps236670_orphanet_899 MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899 102 102 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUBN Proteinuria, chronic benign mondo_mondo_0030042_medgen_c5394384_omim_618884 MONDO:MONDO:0030042,MedGen:C5394384,OMIM:618884 102 102 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN5 Neuronal ceroid lipofuscinosis 5 mondo_mondo_0009745_medgen_c1850442_omim_256731_orphanet_168491_orphanet_228360 MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731,Orphanet:168491,Orphanet:228360 102 102 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAT Familial infantile myasthenia mondo_mondo_0009689_medgen_c0393929_omim_254210_orphanet_590 MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590 102 102 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Tubulinopathy mondo_mondo_0100153_medgen_cn850169 MONDO:MONDO:0100153,MedGen:CN850169 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Cowden syndrome 3 mondo_mondo_0014045_medgen_cn166604_orphanet_201 MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTS 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency mondo_mondo_0009863_medgen_c0878676_omim_261640_orphanet_13_orphanet_238583 MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:13,Orphanet:238583 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1A Neuropathy, hereditary sensory, type 2C mondo_mondo_0013634_medgen_c3280168_omim_614213_orphanet_970 MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 Febrile seizures, familial, 8 mondo_mondo_0011891_medgen_c1969810_omim_607681_orphanet_36387 MONDO:MONDO:0011891,MedGen:C1969810,OMIM:607681,Orphanet:36387 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COLQ Congenital myasthenic syndrome 5 mondo_mondo_0011281_medgen_c1864233_omim_603034_orphanet_590 MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Hypokalemic periodic paralysis, type 1 mondo_mondo_0042979_medgen_c3714580_omim_170400_orphanet_681 MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681 101 101 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10A Odonto-onycho-dermal dysplasia mondo_mondo_0009773_medgen_c0796093_omim_257980_orphanet_2721 MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPS1 Trichorhinophalangeal syndrome, type III medgen_c1860823_omim_190351_orphanet_77258 MedGen:C1860823,OMIM:190351,Orphanet:77258 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Paragangliomas with sensorineural hearing loss medgen_c1868633 MedGen:C1868633 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type 1 mondo_mondo_0016002_medgen_c0268342_omim_225400_orphanet_1900 MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Congenital disorder of deglycosylation mondo_mondo_0031376_medgen_c3808991_omim_ps615273 MONDO:MONDO:0031376,MedGen:C3808991,OMIM:PS615273 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F11 Plasma factor XI deficiency plasma_factor_xi_deficiency . 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 Bethlem myopathy 2 mondo_mondo_0034022_medgen_c4225313_omim_616471_orphanet_536516_orphanet_610 MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Intellectual developmental disorder with autism and macrocephaly mondo_mondo_0014017_medgen_c3554373_omim_615032_orphanet_642675 MONDO:MONDO:0014017,MedGen:C3554373,OMIM:615032,Orphanet:642675 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS4 Bardet-Biedl syndrome 4 mondo_mondo_0014433_medgen_c2936864_omim_615982_orphanet_110 MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982,Orphanet:110 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS4 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 100 100 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 99 99 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 99 99 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP2 Familial hemophagocytic lymphohistiocytosis 5 mondo_mondo_0013135_medgen_c2751293_omim_613101_orphanet_540 MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540 99 99 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A11 Corneal dystrophy-perceptive deafness syndrome mondo_mondo_0009015_medgen_c1857572_omim_217400_orphanet_1490 MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490 99 99 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Peroxisome biogenesis disorder 9B mondo_mondo_0013945_medgen_c2749346_omim_614879_orphanet_773 MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879,Orphanet:773 99 99 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Cone-rod dystrophy 2 mondo_mondo_0007362_medgen_c3489532_omim_120970_orphanet_1872 MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orphanet:1872 99 99 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Syndromic X-linked intellectual disability Najm type mondo_mondo_0010417_medgen_c2677903_omim_300749_orphanet_163937 MONDO:MONDO:0010417,MedGen:C2677903,OMIM:300749,Orphanet:163937 99 99 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTR Methylcobalamin deficiency type cblG mondo_mondo_0009609_medgen_c1855128_omim_250940_orphanet_2170_orphanet_622 MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622 98 98 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LCA5 Leber congenital amaurosis 5 mondo_mondo_0011473_medgen_c1858301_omim_604537_orphanet_65 MONDO:MONDO:0011473,MedGen:C1858301,OMIM:604537,Orphanet:65 98 98 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM20 Dilated cardiomyopathy 1DD mondo_mondo_0013168_medgen_c2750995_omim_613172_orphanet_154 MONDO:MONDO:0013168,MedGen:C2750995,OMIM:613172,Orphanet:154 97 97 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Episodic kinesigenic dyskinesia mondo_mondo_0044202_medgen_c1868682_omim_ps128200_orphanet_98809 MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809 97 97 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF3 Retinitis pigmentosa 25 mondo_mondo_0011272_medgen_c1864446_omim_602772_orphanet_791 MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791 97 97 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AHDC1 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome mondo_mondo_0014358_medgen_c4014419_omim_615829_orphanet_412069 MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069 97 97 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10A Tooth agenesis, selective, 4 mondo_mondo_0007881_medgen_c1835492_omim_150400_orphanet_99798 MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Noonan syndrome 1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Epidermolysis bullosa simplex with nail dystrophy mondo_mondo_0014661_medgen_c4225309_omim_616487 MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Hyperimmunoglobulin D with periodic fever mondo_mondo_0009849_medgen_c0398691_omim_260920_orphanet_343 MONDO:MONDO:0009849,MedGen:C0398691,OMIM:260920,Orphanet:343 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INVS Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCL Deficiency of hydroxymethylglutaryl-CoA lyase mondo_mondo_0009520_medgen_c1533587_omim_246450_orphanet_20 MONDO:MONDO:0009520,MedGen:C1533587,OMIM:246450,Orphanet:20 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant mondo_mondo_0013655_medgen_c3280282_omim_614254 MONDO:MONDO:0013655,MedGen:C3280282,OMIM:614254 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAMT Cerebral creatine deficiency syndrome mondo_mondo_0000456_medgen_c5244016_omim_ps300352_orphanet_79172 MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Malignant hyperthermia, susceptibility to, 5 mondo_mondo_0011163_medgen_c1866077_omim_601887_orphanet_423 MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHA Maple syrup urine disease type 1A mondo_mondo_0023691_medgen_c1855369_omim_248600 MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600 96 96 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA6 Hereditary spastic paraplegia 39 mondo_mondo_0012787_medgen_c2677586_omim_612020_orphanet_139480 MONDO:MONDO:0012787,MedGen:C2677586,OMIM:612020,Orphanet:139480 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Epidermolysis bullosa simplex 5B, with muscular dystrophy mondo_mondo_0009181_medgen_c2931072_omim_226670_orphanet_257 MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA2 Glycogen storage disease IXa1 mondo_mondo_0010598_medgen_c3694531_omim_306000_orphanet_264580 MONDO:MONDO:0010598,MedGen:C3694531,OMIM:306000,Orphanet:264580 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Orofaciodigital syndrome I mondo_mondo_0010702_medgen_c1510460_omim_311200_orphanet_2750 MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL Lowe syndrome mondo_mondo_0010645_medgen_c0028860_omim_309000_orphanet_534 MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphanet:534 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPA Wolman disease mondo_mondo_0019148_medgen_c0043208_omim_620151_orphanet_75233 MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151,Orphanet:75233 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome mondo_mondo_0014558_medgen_c4225396_omim_616268_orphanet_457193 MONDO:MONDO:0014558,MedGen:C4225396,OMIM:616268,Orphanet:457193 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN GRN-related frontotemporal lobar degeneration with Tdp43 inclusions mondo_mondo_0011842_medgen_c1843792_omim_607485_orphanet_100070_orphanet_282 MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBN2 Congenital contractural arachnodactyly mondo_mondo_0007363_medgen_c0220668_omim_121050_orphanet_115 MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFTUD2 Mandibulofacial dysostosis-microcephaly syndrome mondo_mondo_0012516_medgen_c1864652_omim_610536_orphanet_79113 MONDO:MONDO:0012516,MedGen:C1864652,OMIM:610536,Orphanet:79113 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL12A1 Ullrich congenital muscular dystrophy 2 mondo_mondo_0014654_medgen_c4225314_omim_616470_orphanet_75840 MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIITA MHC class II deficiency mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 95 95 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Autosomal recessive nonsyndromic hearing loss 7 mondo_mondo_0010967_medgen_c1832978_omim_600974_orphanet_90636 MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636 94 94 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Retinitis pigmentosa 4 mondo_mondo_0013395_medgen_c3151001_omim_613731_orphanet_791 MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731,Orphanet:791 94 94 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Multiple endocrine neoplasia, type 2 mondo_mondo_0019003_medgen_c4048306_orphanet_653 MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653 94 94 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POT1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 94 94 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Epidermolysis bullosa simplex 5C, with pyloric atresia mondo_mondo_0012807_medgen_c2677349_omim_612138_orphanet_158684 MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684 94 94 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHGDH PHGDH deficiency mondo_mondo_0011152_medgen_c1866174_omim_601815_orphanet_79351 MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351 94 94 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETHE1 Ethylmalonic encephalopathy mondo_mondo_0011229_medgen_c1865349_omim_602473_orphanet_51188 MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:51188 94 94 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 94 94 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Mevalonic aciduria mondo_mondo_0012481_medgen_c1959626_omim_610377_orphanet_29 MONDO:MONDO:0012481,MedGen:C1959626,OMIM:610377,Orphanet:29 93 93 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPA Lysosomal acid lipase deficiency mondo_mondo_0800449_medgen_c5574740_omim_ps278000_orphanet_275761 MONDO:MONDO:0800449,MedGen:C5574740,OMIM:PS278000,Orphanet:275761 93 93 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTHL1 Familial adenomatous polyposis 3 mondo_mondo_0014630_medgen_c4225157_omim_616415_orphanet_220460_orphanet_454840 MONDO:MONDO:0014630,MedGen:C4225157,OMIM:616415,Orphanet:220460,Orphanet:454840 92 92 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MVK Porokeratosis 3, disseminated superficial actinic type mondo_mondo_0008293_medgen_c1867981_omim_175900 MONDO:MONDO:0008293,MedGen:C1867981,OMIM:175900 92 92 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD5 Intellectual disability, autosomal dominant 1 mondo_mondo_0007974_medgen_c1969562_omim_156200_orphanet_228402 MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402 92 92 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 91 91 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Coffin-Lowry syndrome mondo_mondo_0010561_medgen_c0265252_omim_303600_orphanet_192 MONDO:MONDO:0010561,MedGen:C0265252,OMIM:303600,Orphanet:192 91 91 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Combined immunodeficiency due to partial RAG1 deficiency mondo_mondo_0012359_medgen_c1835931_omim_609889_orphanet_231154 MONDO:MONDO:0012359,MedGen:C1835931,OMIM:609889,Orphanet:231154 91 91 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Syndromic X-linked intellectual disability Claes-Jensen type mondo_mondo_0010355_medgen_c1845243_omim_300534_orphanet_85279 MONDO:MONDO:0010355,MedGen:C1845243,OMIM:300534,Orphanet:85279 91 91 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO11 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities mondo_mondo_0060760_medgen_c4748135_omim_618089 MONDO:MONDO:0060760,MedGen:C4748135,OMIM:618089 91 91 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK5 Ichthyosis linearis circumflexa human_phenotype_ontology_hp_0025810_mondo_mondo_0043106_medgen_c0265962 Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency mondo_mondo_0013310_medgen_c1860042_omim_613571_orphanet_95699 MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNKP Developmental and epileptic encephalopathy, 12 mondo_mondo_0013389_medgen_c3150988_omim_613722 MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM6B Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities mondo_mondo_0032790_medgen_c5193134_omim_618505 MONDO:MONDO:0032790,MedGen:C5193134,OMIM:618505 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTG GNPTG-mucolipidosis mondo_mondo_0009652_medgen_c1854896_omim_252605_orphanet_423470_orphanet_577 MONDO:MONDO:0009652,MedGen:C1854896,OMIM:252605,Orphanet:423470,Orphanet:577 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCL Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIS3L2 Perlman syndrome mondo_mondo_0009965_medgen_c0796113_omim_267000_orphanet_2849 MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDC Deficiency of aromatic-L-amino-acid decarboxylase mondo_mondo_0012084_medgen_c1291564_omim_608643_orphanet_35708 MONDO:MONDO:0012084,MedGen:C1291564,OMIM:608643,Orphanet:35708 90 90 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Wilms tumor 1 mondo_mondo_0008679_medgen_cn033288_omim_194070_orphanet_654 MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654 89 89 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Enhanced S-cone syndrome mondo_mondo_0100288_medgen_c1849394_omim_ps268100_orphanet_53540 MONDO:MONDO:0100288,MedGen:C1849394,OMIM:PS268100,Orphanet:53540 89 89 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-5 Atrial septal defect 7 mondo_mondo_0007173_medgen_c3276096_omim_108900_orphanet_1479 MONDO:MONDO:0007173,MedGen:C3276096,OMIM:108900,Orphanet:1479 89 89 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPL Hyperlipoproteinemia, type I mondo_mondo_0009387_medgen_c0023817_omim_238600_orphanet_309015_orphanet_444490 MONDO:MONDO:0009387,MedGen:C0023817,OMIM:238600,Orphanet:309015,Orphanet:444490 89 89 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRG2 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 medgen_c1843244_orphanet_64280 MedGen:C1843244,Orphanet:64280 89 89 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Bardet-Biedl syndrome 9 mondo_mondo_0014437_medgen_c1859567_omim_615986_orphanet_110 MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986,Orphanet:110 89 89 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG2A Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome mondo_mondo_0014698_medgen_c4225276_omim_616577_orphanet_457351 MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351 89 89 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UMOD Familial juvenile hyperuricemic nephropathy type 1 mondo_mondo_0008073_medgen_c4551496_omim_162000_orphanet_209886_orphanet_34149_orphanet_88950 MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950 88 88 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 Peroxisome biogenesis disorder, complementation group 7 medgen_c1864399 MedGen:C1864399 88 88 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Adams-Oliver syndrome 5 mondo_mondo_0014459_medgen_c4014970_omim_616028_orphanet_974 MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974 88 88 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADHB Mitochondrial trifunctional protein deficiency mondo_mondo_0012172_medgen_c1969443_omim_ps609015_orphanet_746 MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746 88 88 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Pallister-Hall syndrome mondo_mondo_0007804_medgen_c0265220_omim_146510_orphanet_672 MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672 88 88 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAT1 Neonatal-onset encephalopathy with rigidity and seizures mondo_mondo_0013784_medgen_c3281029_omim_614498_orphanet_435845 MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845 88 88 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASNS Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome mondo_mondo_0014258_medgen_c3809971_omim_615574_orphanet_391376 MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574,Orphanet:391376 88 88 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZDHHC24 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB Ehlers-Danlos syndrome due to tenascin-X deficiency mondo_mondo_0011670_medgen_c1848029_omim_606408_orphanet_230839 MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Autosomal recessive limb-girdle muscular dystrophy type 2Q mondo_mondo_0013390_medgen_c3150989_omim_613723_orphanet_254361 MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 Ataxia-telangiectasia-like disorder mondo_mondo_0011457_medgen_c1858391_omim_ps604391 MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Meckel syndrome, type 1 mondo_mondo_0009571_medgen_c3714506_omim_249000_orphanet_564 MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphanet:564 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Melnick-Fraser syndrome mondo_mondo_0007029_medgen_c0265234_omim_ps113650_orphanet_107 MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK7 Developmental and epileptic encephalopathy, 23 mondo_mondo_0014371_medgen_c4014492_omim_615859_orphanet_411986 MONDO:MONDO:0014371,MedGen:C4014492,OMIM:615859,Orphanet:411986 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Dent disease type 1 mondo_mondo_0010225_medgen_c1848336_omim_300009_orphanet_1652_orphanet_93622 MONDO:MONDO:0010225,MedGen:C1848336,OMIM:300009,Orphanet:1652,Orphanet:93622 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Infantile-onset ascending hereditary spastic paralysis mondo_mondo_0011797_medgen_c2931441_omim_607225_orphanet_293168 MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225,Orphanet:293168 87 87 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VRK1 Pontocerebellar hypoplasia type 1A gene_100852400_mondo_mondo_0011866_medgen_c1843504_omim_607596_orphanet_2254_orphanet_88616 Gene:100852400,MONDO:MONDO:0011866,MedGen:C1843504,OMIM:607596,Orphanet:2254,Orphanet:88616 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAFAZZIN 3-Methylglutaconic aciduria type 2 mondo_mondo_0010543_medgen_c0574083_omim_302060_orphanet_111 MONDO:MONDO:0010543,MedGen:C0574083,OMIM:302060,Orphanet:111 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRD5A2 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency mondo_mondo_0009923_medgen_c0268297_omim_264600_orphanet_753 MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600,Orphanet:753 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F4 X-linked mixed hearing loss with perilymphatic gusher mondo_mondo_0010576_medgen_c1844678_omim_304400_orphanet_383 MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEC Epidermolysis bullosa simplex, Ogna type mondo_mondo_0007555_medgen_c0432317_omim_131950_orphanet_79401 MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTHFR Neural tube defects, folate-sensitive mondo_mondo_0011120_medgen_c1866558_omim_601634_orphanet_823 MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634,Orphanet:823 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSG2 Arrhythmogenic right ventricular dysplasia 10 mondo_mondo_0012434_medgen_c1857777_omim_610193 MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CP Deficiency of ferroxidase human_phenotype_ontology_hp_0025498_mondo_mondo_0011426_medgen_c0878682_omim_604290_orphanet_48818 Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L GRACILE syndrome mondo_mondo_0011308_medgen_c1864002_omim_603358_orphanet_53693 MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358,Orphanet:53693 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS9 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder mondo_mondo_0014379_medgen_c4014538_omim_615873_orphanet_404448 MONDO:MONDO:0014379,MedGen:C4014538,OMIM:615873,Orphanet:404448 86 86 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBA1A Lissencephaly due to TUBA1A mutation mondo_mondo_0012703_medgen_c4305153_omim_611603_orphanet_171680 MONDO:MONDO:0012703,MedGen:C4305153,OMIM:611603,Orphanet:171680 85 85 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS1 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A mondo_mondo_0009643_medgen_c1854988_omim_252150_orphanet_308386_orphanet_833 MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833 85 85 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT122 Cranioectodermal dysplasia 1 mondo_mondo_0021093_medgen_c0432235_omim_218330_orphanet_1515 MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515 85 85 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 Lesch-Nyhan syndrome mondo_mondo_0010298_medgen_c0023374_omim_300322_orphanet_510 MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510 85 85 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 Dystonia 5 mondo_mondo_0007495_medgen_c1851920_omim_128230_orphanet_98808 MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230,Orphanet:98808 85 85 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAREM2 Mitochondrial trifunctional protein deficiency mondo_mondo_0012172_medgen_c1969443_omim_ps609015_orphanet_746 MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746 85 85 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD40LG Hyper-IgM syndrome type 1 mondo_mondo_0010626_medgen_c0398689_omim_308230_orphanet_101088 MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088 85 85 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 Bardet-Biedl syndrome 7 mondo_mondo_0014435_medgen_c1859565_omim_615984_orphanet_110 MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984,Orphanet:110 85 85 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF276 Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Holt-Oram syndrome mondo_mondo_0007732_medgen_c0265264_omim_142900_orphanet_392 MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900,Orphanet:392 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAR Congenital lipoid adrenal hyperplasia due to STAR deficency mondo_mondo_0008725_medgen_c0342474_omim_201710_orphanet_418_orphanet_90790 MONDO:MONDO:0008725,MedGen:C0342474,OMIM:201710,Orphanet:418,Orphanet:90790 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC23B Congenital dyserythropoietic anemia, type II mondo_mondo_0009134_medgen_c1306589_omim_224100_orphanet_98873 MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Congenital myasthenic syndrome 11 mondo_mondo_0014588_medgen_c4225367_omim_616326_orphanet_590 MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326,Orphanet:590 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Malan overgrowth syndrome mondo_mondo_0013885_medgen_c3553660_omim_614753_orphanet_420179 MONDO:MONDO:0013885,MedGen:C3553660,OMIM:614753,Orphanet:420179 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Bardet-Biedl syndrome 13 mondo_mondo_0014441_medgen_c2673873_omim_615990_orphanet_110 MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990,Orphanet:110 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP3 Brachyolmia-amelogenesis imperfecta syndrome mondo_mondo_0011018_medgen_c1832594_omim_601216_orphanet_2899 MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB2 Pierson syndrome mondo_mondo_0012184_medgen_c1836876_omim_609049_orphanet_2670 MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049,Orphanet:2670 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIT Gastrointestinal stromal tumor human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAS Autoimmune lymphoproliferative syndrome type 1 mondo_mondo_0011158_medgen_c1328840_omim_601859_orphanet_3261 MONDO:MONDO:0011158,MedGen:C1328840,OMIM:601859,Orphanet:3261 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1B Multiple endocrine neoplasia type 4 mondo_mondo_0012552_medgen_c1970712_omim_610755_orphanet_276152 MONDO:MONDO:0012552,MedGen:C1970712,OMIM:610755,Orphanet:276152 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADS Deficiency of butyryl-CoA dehydrogenase mondo_mondo_0008722_medgen_c0342783_omim_201470_orphanet_26792 MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792 84 84 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Drash syndrome mondo_mondo_0008682_medgen_c0950121_omim_194080_orphanet_220 MONDO:MONDO:0008682,MedGen:C0950121,OMIM:194080,Orphanet:220 83 83 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMU Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mondo_mondo_0013111_medgen_c3278664_omim_613070_orphanet_217371 MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371 83 83 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Norman-Roberts syndrome mondo_mondo_0009760_medgen_c0796089_omim_257320_orphanet_89844 MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844 83 83 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 83 83 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MRE11 Ataxia-telangiectasia-like disorder 1 mondo_mondo_0024557_medgen_c4012790_omim_604391_orphanet_251347 MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347 83 83 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEF2C Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language mondo_mondo_0013266_medgen_c3150700_omim_613443_orphanet_228384_orphanet_664410 MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410 83 83 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 Acrocallosal syndrome mondo_mondo_0008708_medgen_c0796147_omim_200990_orphanet_36 MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36 83 83 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 82 82 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROP1 Pituitary hormone deficiency, combined, 2 mondo_mondo_0009878_medgen_c0878683_omim_262600 MONDO:MONDO:0009878,MedGen:C0878683,OMIM:262600 82 82 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUCA1 Fucosidosis mondo_mondo_0009254_medgen_c0016788_omim_230000_orphanet_349 MONDO:MONDO:0009254,MedGen:C0016788,OMIM:230000,Orphanet:349 82 82 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESCO2 Roberts-SC phocomelia syndrome mondo_mondo_0100253_medgen_c0392475_omim_268300_orphanet_3103 MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103 82 82 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Ectopic tissue medgen_c0008519 MedGen:C0008519 82 82 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSC Papillon-Lefèvre syndrome mondo_mondo_0009490_medgen_c0030360_omim_245000_orphanet_678 MONDO:MONDO:0009490,MedGen:C0030360,OMIM:245000,Orphanet:678 82 82 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS7 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 82 82 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Alpha thalassemia-X-linked intellectual disability syndrome mondo_mondo_0010519_medgen_c1845055_omim_301040_orphanet_847 MONDO:MONDO:0010519,MedGen:C1845055,OMIM:301040,Orphanet:847 82 82 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Gorlin syndrome mondo_mondo_0007187_medgen_c0004779_omim_ps109400_orphanet_377 MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377 81 81 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Renal coloboma syndrome mondo_mondo_0007352_medgen_c1852759_omim_120330_orphanet_1475 MONDO:MONDO:0007352,MedGen:C1852759,OMIM:120330,Orphanet:1475 81 81 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly mondo_mondo_0009894_medgen_c0024507_omim_263520 MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 81 81 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMD X-linked Emery-Dreifuss muscular dystrophy mondo_mondo_0010680_medgen_c0751337_orphanet_261_orphanet_98863 MONDO:MONDO:0010680,MedGen:C0751337,Orphanet:261,Orphanet:98863 81 81 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG4 Intellectual developmental disorder 62 mondo_mondo_0032919_medgen_c5394083_omim_618793 MONDO:MONDO:0032919,MedGen:C5394083,OMIM:618793 81 81 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB1 Retinitis pigmentosa 45 mondo_mondo_0013413_medgen_c3151066_omim_613767_orphanet_791 MONDO:MONDO:0013413,MedGen:C3151066,OMIM:613767,Orphanet:791 81 81 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCOR Oculofaciocardiodental syndrome mondo_mondo_0010261_medgen_c1846265_omim_300166_orphanet_2712 MONDO:MONDO:0010261,MedGen:C1846265,OMIM:300166,Orphanet:2712 81 81 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA2 Deficiency of adenosine deaminase 2 mondo_mondo_0014306_medgen_c3887654_omim_615688_orphanet_404553 MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553 81 81 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRMU Aminoglycoside-induced deafness mondo_mondo_0010799_medgen_c1838854_omim_580000_orphanet_168609 MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000,Orphanet:168609 80 80 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 Aplastic anemia human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 80 80 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRSAM1 Charcot-Marie-Tooth disease axonal type 2P gene_431712_mondo_mondo_0013753_medgen_c3280797_omim_614436_orphanet_300319_orphanet_99941 Gene:431712,MONDO:MONDO:0013753,MedGen:C3280797,OMIM:614436,Orphanet:300319,Orphanet:99941 80 80 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD3 Snijders Blok-Campeau syndrome mondo_mondo_0032600_medgen_c4748701_omim_618205_orphanet_599082 MONDO:MONDO:0032600,MedGen:C4748701,OMIM:618205,Orphanet:599082 80 80 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCM2 Cerebral cavernous malformation 2 mondo_mondo_0011304_medgen_c1864041_omim_603284_orphanet_221061 MONDO:MONDO:0011304,MedGen:C1864041,OMIM:603284,Orphanet:221061 80 80 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANOS1 Hypogonadotropic hypogonadism 1 with or without anosmia mondo_mondo_0010635_medgen_c1563719_omim_308700_orphanet_478 MONDO:MONDO:0010635,MedGen:C1563719,OMIM:308700,Orphanet:478 80 80 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 79 79 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome mondo_mondo_0009393_medgen_c0268540_omim_238970_orphanet_415 MONDO:MONDO:0009393,MedGen:C0268540,OMIM:238970,Orphanet:415 79 79 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINA1 Alpha-1-antitrypsin deficiency mondo_mondo_0013282_medgen_c0221757_omim_613490_orphanet_60 MONDO:MONDO:0013282,MedGen:C0221757,OMIM:613490,Orphanet:60 79 79 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC Pheochromocytoma/paraganglioma syndrome 3 mondo_mondo_0011544_medgen_c1854336_omim_605373_orphanet_29072 MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072 79 79 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Nephronophthisis 4 mondo_mondo_0011752_medgen_c1847013_omim_606966_orphanet_655 MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655 79 79 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 79 79 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB2 LAMB2-related infantile-onset nephrotic syndrome mondo_mondo_0013621_medgen_c3280113_omim_614199_orphanet_306507 MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507 79 79 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Zellweger spectrum disorders mondo_mondo_0019609_medgen_c0043459_orphanet_912 MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 79 79 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF276 Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Frasier syndrome mondo_mondo_0007635_mesh_d052159_medgen_c0950122_omim_136680_orphanet_347 MONDO:MONDO:0007635,MeSH:D052159,MedGen:C0950122,OMIM:136680,Orphanet:347 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 Saethre-Chotzen syndrome mondo_mondo_0007042_medgen_c0175699_omim_101400_orphanet_794 MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400,Orphanet:794 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRNT1 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome mondo_mondo_0014487_medgen_c4015172_omim_616084_orphanet_369861 MONDO:MONDO:0014487,MedGen:C4015172,OMIM:616084,Orphanet:369861 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX5 Aortic valve disease 2 mondo_mondo_0013902_medgen_c3542024_omim_614823 MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC39A4 Hereditary acrodermatitis enteropathica mondo_mondo_0008713_medgen_c0221036_omim_201100_orphanet_37 MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A3 Congenital secretory diarrhea, chloride type mondo_mondo_0008964_medgen_c0267662_omim_214700_orphanet_53689 MONDO:MONDO:0008964,MedGen:C0267662,OMIM:214700,Orphanet:53689 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Holoprosencephaly 3 mondo_mondo_0007733_medgen_c1840529_omim_142945_orphanet_2162 MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF11 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability mondo_mondo_0007918_medgen_c1835265_omim_152950_orphanet_2526 MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F5 Congenital factor V deficiency mondo_mondo_0009210_medgen_c0015499_omim_227400_orphanet_326 MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXIN2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Familial hemiplegic migraine mondo_mondo_0000700_medgen_c0338484_omim_ps141500 MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500 78 78 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SON ZTTK syndrome mondo_mondo_0014936_medgen_c4310696_omim_617140_orphanet_500150 MONDO:MONDO:0014936,MedGen:C4310696,OMIM:617140,Orphanet:500150 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMCHD1 Facioscapulohumeral muscular dystrophy 2 mondo_mondo_0008031_medgen_c1834671_omim_158901_orphanet_269 MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901,Orphanet:269 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Charcot-Marie-Tooth disease type 4C mondo_mondo_0011113_medgen_c1866636_omim_601596_orphanet_99949 MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 Neuronopathy, distal hereditary motor, autosomal recessive 4 mondo_mondo_0012608_medgen_c1970211_omim_611067_orphanet_206580 MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX2 Peroxisome biogenesis disorder 5A (Zellweger) mondo_mondo_0013932_medgen_c3553940_omim_614866_orphanet_912 MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866,Orphanet:912 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB2 Leukocyte adhesion deficiency 1 mondo_mondo_0007293_medgen_c0398738_omim_116920_orphanet_2968_orphanet_99842 MONDO:MONDO:0007293,MedGen:C0398738,OMIM:116920,Orphanet:2968,Orphanet:99842 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN Dilated cardiomyopathy 1X mondo_mondo_0012704_medgen_c1969024_omim_611615_orphanet_154 MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFA Multiple acyl-CoA dehydrogenase deficiency mondo_mondo_0009282_medgen_c0268596_omim_231680_orphanet_26791 MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTNAP2 Cortical dysplasia-focal epilepsy syndrome mondo_mondo_0012400_medgen_c2750246_omim_610042_orphanet_163681_orphanet_221150 MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V1B1 Renal tubular acidosis with progressive nerve deafness mondo_mondo_0009968_medgen_c0403554_omim_267300 MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300 77 77 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPA Xeroderma pigmentosum group A mondo_mondo_0010210_medgen_c0268135_omim_278700_orphanet_910 MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700,Orphanet:910 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF20 Developmental delay with variable intellectual impairment and behavioral abnormalities mondo_mondo_0032745_medgen_c5193092_omim_618430 MONDO:MONDO:0032745,MedGen:C5193092,OMIM:618430 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBK1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 mondo_mondo_0014641_medgen_c4225325_omim_616439_orphanet_275872 MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439,Orphanet:275872 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Mitochondrial complex IV deficiency, nuclear type 1 mondo_mondo_0700250_medgen_c5435656_omim_220110 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUOX Sulfite oxidase deficiency human_phenotype_ontology_hp_0003643_mondo_mondo_0010089_medgen_c0268624_omim_272300_orphanet_833_orphanet_99731 Human_Phenotype_Ontology:HP:0003643,MONDO:MONDO:0010089,MedGen:C0268624,OMIM:272300,Orphanet:833,Orphanet:99731 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX2 Anophthalmia/microphthalmia-esophageal atresia syndrome mondo_mondo_0008799_medgen_c1859773_omim_206900_orphanet_77298 MONDO:MONDO:0008799,MedGen:C1859773,OMIM:206900,Orphanet:77298 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROS1 Thrombophilia due to protein S deficiency, autosomal recessive mondo_mondo_0013791_medgen_c3281092_omim_614514_orphanet_743 MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLEKHG5 Charcot-Marie-Tooth disease recessive intermediate C mondo_mondo_0014154_medgen_c3809309_omim_615376_orphanet_369867 MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA15 Intellectual disability, autosomal dominant 50 mondo_mondo_0030916_medgen_c4540470_omim_617787 MONDO:MONDO:0030916,MedGen:C4540470,OMIM:617787 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Charcot-Marie-Tooth disease type 4A mondo_mondo_0008961_medgen_c1859198_omim_214400_orphanet_99948 MONDO:MONDO:0008961,MedGen:C1859198,OMIM:214400,Orphanet:99948 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCE Fanconi anemia complementation group E mondo_mondo_0010953_medgen_c3160739_omim_600901_orphanet_84 MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901,Orphanet:84 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 Cockayne syndrome type 1 mondo_mondo_0019569_medgen_c0751039_omim_216400_orphanet_191_orphanet_90321 MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400,Orphanet:191,Orphanet:90321 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELANE Neutropenia, severe congenital, 1, autosomal dominant mondo_mondo_0042490_medgen_c1859966_omim_202700 MONDO:MONDO:0042490,MedGen:C1859966,OMIM:202700 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BUB1B Mosaic variegated aneuploidy syndrome 1 mondo_mondo_0009759_medgen_c1850343_omim_257300_orphanet_1052 MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052 76 76 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 Citrullinemia mondo_mondo_0015991_medgen_c0175683_omim_ps215700_orphanet_187 MONDO:MONDO:0015991,MedGen:C0175683,OMIM:PS215700,Orphanet:187 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 Bardet-Biedl syndrome 16 mondo_mondo_0014444_medgen_c3889474_omim_615993_orphanet_110 MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RELN Familial temporal lobe epilepsy 7 mondo_mondo_0014639_medgen_c4225327_omim_616436_orphanet_101046 MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 Joubert syndrome with renal defect mondo_mondo_0012308_medgen_c1846790_omim_609583_orphanet_220497 MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583,Orphanet:220497 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS McKusick-Kaufman syndrome mondo_mondo_0009367_medgen_c0948368_omim_236700_orphanet_2473 MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KANSL1 Koolen-de Vries syndrome mondo_mondo_0012496_medgen_c1864871_omim_610443_orphanet_96169 MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FHL1 X-linked myopathy with postural muscle atrophy mondo_mondo_0010401_medgen_c2678055_omim_300696_orphanet_178461 MONDO:MONDO:0010401,MedGen:C2678055,OMIM:300696,Orphanet:178461 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 FGFR2-related craniosynostosis fgfr2_related_craniosynostosis MedGen:CN231480 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EGFR EGFR-related lung cancer egfr_related_lung_cancer MedGen:CN130014 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP21A2 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY medgen_c2936858_omim_201910 MedGen:C2936858,OMIM:201910 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATL1 Hereditary spastic paraplegia 3A mondo_mondo_0008437_medgen_c2931355_omim_182600_orphanet_100984 MONDO:MONDO:0008437,MedGen:C2931355,OMIM:182600,Orphanet:100984 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC9 Dilated cardiomyopathy 1O mondo_mondo_0012062_medgen_c1837839_omim_608569_orphanet_154 MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154 75 75 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM37 Mulibrey nanism syndrome mondo_mondo_0009664_medgen_c0524582_omim_253250_orphanet_2576 MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM127 Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A20 Carnitine acylcarnitine translocase deficiency mondo_mondo_0008918_medgen_c0342791_omim_212138_orphanet_159 MONDO:MONDO:0008918,MedGen:C0342791,OMIM:212138,Orphanet:159 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC23B Cowden syndrome 7 mondo_mondo_0014802_medgen_c4225179_omim_616858_orphanet_201 MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Carney complex, type 1 mondo_mondo_0008057_medgen_c2607929_omim_160980_orphanet_1359 MONDO:MONDO:0008057,MedGen:C2607929,OMIM:160980,Orphanet:1359 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGO Hyperphosphatasia with intellectual disability syndrome 2 mondo_mondo_0013882_medgen_c3553637_omim_614749_orphanet_247262 MONDO:MONDO:0013882,MedGen:C3553637,OMIM:614749,Orphanet:247262 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGG Intellectual disability, autosomal recessive 53 mondo_mondo_0014832_medgen_c4310794_omim_616917_orphanet_488635 MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 Peroxisome biogenesis disorder 6A (Zellweger) mondo_mondo_0013936_medgen_c3553947_omim_614870_orphanet_912 MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP2 Donnai-Barrow syndrome mondo_mondo_0009104_medgen_c1857277_omim_222448_orphanet_2143 MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNS Mucopolysaccharidosis, MPS-III-D mondo_mondo_0009658_medgen_c0086650_omim_252940_orphanet_581_orphanet_79272 MONDO:MONDO:0009658,MedGen:C0086650,OMIM:252940,Orphanet:581,Orphanet:79272 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELAC2 Combined oxidative phosphorylation defect type 17 mondo_mondo_0014190_medgen_c3809526_omim_615440_orphanet_369913 MONDO:MONDO:0014190,MedGen:C3809526,OMIM:615440,Orphanet:369913 74 74 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Loeys-Dietz syndrome 4 mondo_mondo_0013897_medgen_c3553762_omim_614816 MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDCCAG8 Senior-Loken syndrome 7 mondo_mondo_0013326_medgen_c3150877_omim_613615_orphanet_3156 MONDO:MONDO:0013326,MedGen:C3150877,OMIM:613615,Orphanet:3156 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Pick disease mondo_mondo_0008243_medgen_c0236642_omim_172700_orphanet_282 MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,Orphanet:282 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Thrombophilia due to protein C deficiency, autosomal dominant mondo_mondo_0008316_medgen_c2674321_omim_176860_orphanet_745 MONDO:MONDO:0008316,MedGen:C2674321,OMIM:176860,Orphanet:745 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNB1 Developmental and epileptic encephalopathy, 26 mondo_mondo_0014477_medgen_c4015119_omim_616056_orphanet_442835 MONDO:MONDO:0014477,MedGen:C4015119,OMIM:616056,Orphanet:442835 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRN Neuronal ceroid lipofuscinosis 11 mondo_mondo_0013866_medgen_c3539123_omim_614706_orphanet_314629_orphanet_79262 MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Anterior segment dysgenesis 6 mondo_mondo_0015016_medgen_c4310623_omim_617315 MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSC Periodontitis, aggressive mondo_mondo_0980757_medgen_c4551681 MONDO:MONDO:0980757,MedGen:C4551681 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSC Haim-Munk syndrome mondo_mondo_0009491_medgen_c1855627_omim_245010_orphanet_2342 MONDO:MONDO:0009491,MedGen:C1855627,OMIM:245010,Orphanet:2342 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A2 Kufor-Rakeb syndrome mondo_mondo_0011706_medgen_c1847640_omim_606693_orphanet_306674_orphanet_314632 MONDO:MONDO:0011706,MedGen:C1847640,OMIM:606693,Orphanet:306674,Orphanet:314632 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL1 Bohring-Opitz syndrome mondo_mondo_0011510_medgen_c0796232_omim_605039_orphanet_97297 MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRG1 Bilateral frontoparietal polymicrogyria mondo_mondo_0011738_medgen_c1847352_omim_606854_orphanet_101070 MONDO:MONDO:0011738,MedGen:C1847352,OMIM:606854,Orphanet:101070 73 73 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX9 Camptomelic dysplasia mondo_mondo_0007251_medgen_c1861922_omim_114290_orphanet_140 MONDO:MONDO:0007251,MedGen:C1861922,OMIM:114290,Orphanet:140 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A3 Biotin-responsive basal ganglia disease mondo_mondo_0011841_medgen_c1843807_omim_607483_orphanet_199348_orphanet_65284 MONDO:MONDO:0011841,MedGen:C1843807,OMIM:607483,Orphanet:199348,Orphanet:65284 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 Allan-Herndon-Dudley syndrome mondo_mondo_0010354_medgen_c0795889_omim_300523_orphanet_59 MONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523,Orphanet:59 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 mondo_mondo_0018996_medgen_c1853761_omim_606002_orphanet_64753 MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX2 Focal segmental glomerulosclerosis 7 mondo_mondo_0014451_medgen_c4014925_omim_616002_orphanet_656 MONDO:MONDO:0014451,MedGen:C4014925,OMIM:616002,Orphanet:656 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NTHL1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Branchiootorenal syndrome 1 mondo_mondo_0007236_medgen_c4551702_omim_113650_orphanet_107 MONDO:MONDO:0007236,MedGen:C4551702,OMIM:113650,Orphanet:107 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFI CFI-related disorder cfi_related_disorder MedGen:CN239325 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAR Aicardi-Goutieres syndrome 6 mondo_mondo_0014007_medgen_c3539013_omim_615010_orphanet_51 MONDO:MONDO:0014007,MedGen:C3539013,OMIM:615010,Orphanet:51 72 72 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Autosomal dominant nonsyndromic hearing loss 65 mondo_mondo_0014470_medgen_c3892048_omim_616044_orphanet_90635 MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635 71 71 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 71 71 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXMIF X-linked intellectual disability, Cantagrel type mondo_mondo_0010483_medgen_c3806730_omim_300912_orphanet_85277 MONDO:MONDO:0010483,MedGen:C3806730,OMIM:300912,Orphanet:85277 71 71 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Popliteal pterygium syndrome mondo_mondo_0017435_medgen_c0265259_orphanet_294963 MONDO:MONDO:0017435,MedGen:C0265259,Orphanet:294963 71 71 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAR Symmetrical dyschromatosis of extremities mondo_mondo_0007483_medgen_c0406775_omim_127400_orphanet_41 MONDO:MONDO:0007483,MedGen:C0406775,OMIM:127400,Orphanet:41 71 71 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSEN1 Acne inversa, familial, 3 mondo_mondo_0013398_medgen_c3151038_omim_613737 MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Acromesomelic dysplasia 1, Maroteaux type mondo_mondo_0011275_medgen_c1864356_omim_602875_orphanet_40 MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875,Orphanet:40 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MBD4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2E O'Donnell-Luria-Rodan syndrome mondo_mondo_0032793_medgen_c5193138_omim_618512 MONDO:MONDO:0032793,MedGen:C5193138,OMIM:618512 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL12RB1 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency mondo_mondo_0013955_medgen_c4013949_omim_614891_orphanet_319552 MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOK7 Fetal akinesia deformation sequence 3 mondo_mondo_0100103_medgen_c4760599_omim_618389 MONDO:MONDO:0100103,MedGen:C4760599,OMIM:618389 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSA Combined deficiency of sialidase AND beta galactosidase mondo_mondo_0009737_medgen_c0268233_omim_256540_orphanet_351 MONDO:MONDO:0009737,MedGen:C0268233,OMIM:256540,Orphanet:351 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNS Cystinosis mondo_mondo_0016239_medgen_c4316899_orphanet_213 MONDO:MONDO:0016239,MedGen:C4316899,Orphanet:213 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP13A2 Autosomal recessive spastic paraplegia type 78 mondo_mondo_0014975_medgen_c5567893_omim_617225_orphanet_513436 MONDO:MONDO:0014975,MedGen:C5567893,OMIM:617225,Orphanet:513436 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3B1 Hermansky-Pudlak syndrome 2 mondo_mondo_0011997_medgen_c1842362_omim_608233_orphanet_183678_orphanet_79430 MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTS13 Upshaw-Schulman syndrome mondo_mondo_0010122_medgen_c1268935_omim_274150_orphanet_93583 MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583 70 70 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBC1D24 Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SI Sucrase-isomaltase deficiency mondo_mondo_0009114_medgen_c1283620_omim_222900_orphanet_35122 MONDO:MONDO:0009114,MedGen:C1283620,OMIM:222900,Orphanet:35122 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Rhizomelic chondrodysplasia punctata type 1 mondo_mondo_0008972_medgen_c1859133_omim_215100_orphanet_177_orphanet_309789 MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100,Orphanet:177,Orphanet:309789 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX5 Peroxisome biogenesis disorder 2B mondo_mondo_0008736_medgen_c3550234_omim_202370_orphanet_44 MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTRR Neural tube defects, folate-sensitive mondo_mondo_0011120_medgen_c1866558_omim_601634_orphanet_823 MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634,Orphanet:823 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA1 Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome mondo_mondo_0014419_medgen_c4014821_omim_615960_orphanet_370022 MONDO:MONDO:0014419,MedGen:C4014821,OMIM:615960,Orphanet:370022 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 Junctional epidermolysis bullosa with pyloric atresia mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy mondo_mondo_0011132_medgen_c1866426_omim_601705_orphanet_169095 MONDO:MONDO:0011132,MedGen:C1866426,OMIM:601705,Orphanet:169095 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSC2 Arrhythmogenic right ventricular dysplasia 11 mondo_mondo_0012506_medgen_c1864850_omim_610476 MONDO:MONDO:0012506,MedGen:C1864850,OMIM:610476 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Pili torti-deafness syndrome mondo_mondo_0009872_medgen_c0266006_omim_262000_orphanet_123 MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000,Orphanet:123 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 Interstitial lung disease due to ABCA3 deficiency mondo_mondo_0012582_medgen_c1970456_omim_610921_orphanet_440402 MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402 69 69 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 11p partial monosomy syndrome mondo_mondo_0008681_medgen_c0206115_omim_194072_orphanet_893 MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome mondo_mondo_0014892_medgen_c4310740_omim_617061_orphanet_476126 MONDO:MONDO:0014892,MedGen:C4310740,OMIM:617061,Orphanet:476126 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAT Tyrosinemia type II mondo_mondo_0010160_medgen_c0268487_omim_276600_orphanet_28378 MONDO:MONDO:0010160,MedGen:C0268487,OMIM:276600,Orphanet:28378 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT3 Hyper-IgE recurrent infection syndrome 1, autosomal dominant mondo_mondo_0007818_medgen_c2936739_omim_147060_orphanet_2314 MONDO:MONDO:0007818,MedGen:C2936739,OMIM:147060,Orphanet:2314 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUF60 8q24.3 microdeletion syndrome mondo_mondo_0014263_medgen_c3810023_omim_615583_orphanet_508488 MONDO:MONDO:0014263,MedGen:C3810023,OMIM:615583,Orphanet:508488 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C Kleefstra syndrome 2 mondo_mondo_0054701_medgen_c4540395_omim_617768 MONDO:MONDO:0054701,MedGen:C4540395,OMIM:617768 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Orofacial cleft 6, susceptibility to mondo_mondo_0012141_medgen_c1837213_omim_608864 MONDO:MONDO:0012141,MedGen:C1837213,OMIM:608864 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMBS Acute intermittent porphyria mondo_mondo_0008294_medgen_c0162565_omim_176000_orphanet_79276 MONDO:MONDO:0008294,MedGen:C0162565,OMIM:176000,Orphanet:79276 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C Histiocytic medullary reticulosis mondo_mondo_0011338_medgen_c2700553_omim_603554_orphanet_39041 MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL7 3M syndrome 1 mondo_mondo_0010117_medgen_c2678312_omim_273750_orphanet_2616 MONDO:MONDO:0010117,MedGen:C2678312,OMIM:273750,Orphanet:2616 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Intellectual disability, autosomal dominant 14 mondo_mondo_0013819_medgen_c3553247_omim_614607_orphanet_1465 MONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607,Orphanet:1465 68 68 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations mondo_mondo_0011435_medgen_c1858535_omim_604317_orphanet_2512 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 67 67 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP11 Achondrogenesis, type IA mondo_mondo_0008701_medgen_c0265273_omim_200600_orphanet_932_orphanet_93299 MONDO:MONDO:0008701,MedGen:C0265273,OMIM:200600,Orphanet:932,Orphanet:93299 67 67 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC Gastrointestinal stromal tumor human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 67 67 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP Sphingolipid activator protein 1 deficiency mondo_mondo_0009590_medgen_c0268262_omim_249900_orphanet_512 MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orphanet:512 67 67 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIX Marshall-Smith syndrome mondo_mondo_0011244_medgen_c0265211_omim_602535_orphanet_561 MONDO:MONDO:0011244,MedGen:C0265211,OMIM:602535,Orphanet:561 67 67 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay mondo_mondo_0014556_medgen_c4225398_omim_616266_orphanet_562528 MONDO:MONDO:0014556,MedGen:C4225398,OMIM:616266,Orphanet:562528 67 67 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Ceroid lipofuscinosis, neuronal, 6A mondo_mondo_0011144_medgen_c5551375_omim_601780_orphanet_168491_orphanet_228363 MONDO:MONDO:0011144,MedGen:C5551375,OMIM:601780,Orphanet:168491,Orphanet:228363 67 67 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADSL Adenylosuccinate lyase deficiency mondo_mondo_0007068_medgen_c0268126_omim_103050_orphanet_46 MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46 67 67 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCN2 Transcobalamin II deficiency mondo_mondo_0010149_medgen_c0342701_omim_275350_orphanet_859 MONDO:MONDO:0010149,MedGen:C0342701,OMIM:275350,Orphanet:859 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 mondo_mondo_0014823_medgen_c5567480_omim_616900_orphanet_488632 MONDO:MONDO:0014823,MedGen:C5567480,OMIM:616900,Orphanet:488632 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Histiocytic medullary reticulosis mondo_mondo_0011338_medgen_c2700553_omim_603554_orphanet_39041 MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Metachondromatosis mondo_mondo_0007979_medgen_c0410530_omim_156250_orphanet_2499 MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:2499 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MMADHC Methylmalonic aciduria and homocystinuria type cblD mondo_mondo_0010185_medgen_c1848552_omim_277410_orphanet_622_orphanet_79283 MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKKS Bardet-Biedl syndrome 6 mondo_mondo_0011523_medgen_c1858054_omim_605231_orphanet_110 MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GCH1 GTP cyclohydrolase I deficiency mondo_mondo_0100184_medgen_c0268467 MONDO:MONDO:0100184,MedGen:C0268467 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL4 Mitochondrial DNA depletion syndrome 13 mondo_mondo_0014198_medgen_c3809592_omim_615471_orphanet_369897 MONDO:MONDO:0014198,MedGen:C3809592,OMIM:615471,Orphanet:369897 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APRT Adenine phosphoribosyltransferase deficiency mondo_mondo_0013869_medgen_c0268120_omim_614723_orphanet_976 MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACOX1 Acyl-CoA oxidase deficiency mondo_mondo_0009919_medgen_c1849678_omim_264470_orphanet_2971 MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971 66 66 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT1 Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome mondo_mondo_0013599_medgen_c3279990_omim_614162_orphanet_391487 MONDO:MONDO:0013599,MedGen:C3279990,OMIM:614162,Orphanet:391487 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A1 Bartter disease type 1 mondo_mondo_0100344_medgen_c1866495_omim_601678_orphanet_112_orphanet_620217 MONDO:MONDO:0100344,MedGen:C1866495,OMIM:601678,Orphanet:112,Orphanet:620217 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QARS1 Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome mondo_mondo_0014335_medgen_c4014239_omim_615760_orphanet_404437 MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Charcot-Marie-Tooth disease, type I mondo_mondo_0019011_medgen_c0751036_orphanet_65753 MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK Congenital myasthenic syndrome 9 mondo_mondo_0014587_medgen_c4225368_omim_616325_orphanet_590 MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTO1 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency mondo_mondo_0013865_medgen_c4749921_omim_614702_orphanet_314637 MONDO:MONDO:0013865,MedGen:C4749921,OMIM:614702,Orphanet:314637 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Van der Woude syndrome mondo_mondo_0019508_medgen_c0175697_orphanet_888 MONDO:MONDO:0019508,MedGen:C0175697,Orphanet:888 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2B Poirier-Bienvenu neurodevelopmental syndrome mondo_mondo_0032889_medgen_c5231482_omim_618732_orphanet_689397 MONDO:MONDO:0032889,MedGen:C5231482,OMIM:618732,Orphanet:689397 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTB Baraitser-Winter syndrome 1 mondo_mondo_0009470_medgen_c1855722_omim_243310_orphanet_2649_orphanet_2995 MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995 65 65 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK1 Neuropathy, hereditary sensory and autonomic, type 2A mondo_mondo_0024309_medgen_c2752089_omim_201300_orphanet_970 MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Muscle eye brain disease mondo_mondo_0018939_medgen_c0457133_orphanet_588_orphanet_899 MONDO:MONDO:0018939,MedGen:C0457133,Orphanet:588,Orphanet:899 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Aicardi-Goutieres syndrome 1 mondo_mondo_0009165_medgen_c0796126_omim_225750_orphanet_51 MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMPRSS3 Autosomal recessive nonsyndromic hearing loss 8 mondo_mondo_0010987_medgen_c1832827_omim_601072_orphanet_90636 MONDO:MONDO:0010987,MedGen:C1832827,OMIM:601072,Orphanet:90636 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC7A9 Cystinuria human_phenotype_ontology_hp_0003131_mondo_mondo_0009067_medgen_c0010691_omim_220100_orphanet_214 Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence REEP1 Hereditary spastic paraplegia 31 mondo_mondo_0012453_medgen_c1853247_omim_610250_orphanet_101011 MONDO:MONDO:0012453,MedGen:C1853247,OMIM:610250,Orphanet:101011 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM3 Immunodeficiency 23 mondo_mondo_0014353_medgen_c4014371_omim_615816_orphanet_443811 MONDO:MONDO:0014353,MedGen:C4014371,OMIM:615816,Orphanet:443811 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF2 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 mondo_mondo_0009310_medgen_c1856245_omim_233710_orphanet_379 MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 Senior-Loken syndrome 5 mondo_mondo_0012225_medgen_c1836517_omim_609254_orphanet_3156 MONDO:MONDO:0012225,MedGen:C1836517,OMIM:609254,Orphanet:3156 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD2B Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome mondo_mondo_0014034_medgen_c3554448_omim_615074_orphanet_363686 MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074,Orphanet:363686 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBA Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative mondo_mondo_0009308_medgen_c1856255_omim_233690_orphanet_379 MONDO:MONDO:0009308,MedGen:C1856255,OMIM:233690,Orphanet:379 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG5 COG5-congenital disorder of glycosylation mondo_mondo_0013325_medgen_c3150876_omim_613612_orphanet_263487 MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A1 Brody myopathy mondo_mondo_0010977_medgen_c1832918_omim_601003_orphanet_53347 MONDO:MONDO:0010977,MedGen:C1832918,OMIM:601003,Orphanet:53347 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 Leber congenital amaurosis 4 mondo_mondo_0011458_medgen_c1858386_omim_604393 MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393 64 64 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WAC DeSanto-Shinawi syndrome due to WAC point mutation mondo_mondo_0014741_medgen_c5681129_omim_616708_orphanet_284169_orphanet_466950 MONDO:MONDO:0014741,MedGen:C5681129,OMIM:616708,Orphanet:284169,Orphanet:466950 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Retinitis pigmentosa 40 mondo_mondo_0013429_medgen_c3151107_omim_613801_orphanet_791 MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARN Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 mondo_mondo_0014612_medgen_c4225347_omim_616371_orphanet_2032 MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome mondo_mondo_0014320_medgen_c3810363_omim_615722_orphanet_401777 MONDO:MONDO:0014320,MedGen:C3810363,OMIM:615722,Orphanet:401777 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH2 Hajdu-Cheney syndrome mondo_mondo_0007057_medgen_c0917715_omim_102500_orphanet_955 MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HDAC8 Cornelia de Lange syndrome 5 mondo_mondo_0010471_medgen_c3550903_omim_300882_orphanet_199 MONDO:MONDO:0010471,MedGen:C3550903,OMIM:300882,Orphanet:199 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRTAP Osteogenesis imperfecta type 7 mondo_mondo_0012536_medgen_c1853162_omim_610682 MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Aicardi-Goutieres syndrome 1 mondo_mondo_0009165_medgen_c0796126_omim_225750_orphanet_51 MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 63 63 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWIST1 TWIST1-related craniosynostosis mondo_mondo_0007399_medgen_c4551902_omim_123100_orphanet_63440 MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPO Deficiency of iodide peroxidase mondo_mondo_0010133_medgen_c1291299_omim_274500_orphanet_95716 MONDO:MONDO:0010133,MedGen:C1291299,OMIM:274500,Orphanet:95716 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TK2 Mitochondrial disease mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A3 Autosomal recessive hypophosphatemic bone disease mondo_mondo_0009431_medgen_c1853271_omim_241530_orphanet_157215 MONDO:MONDO:0009431,MedGen:C1853271,OMIM:241530,Orphanet:157215 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYGL Glycogen storage disease, type VI mondo_mondo_0009294_medgen_c0017925_omim_232700_orphanet_369 MONDO:MONDO:0009294,MedGen:C0017925,OMIM:232700,Orphanet:369 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PARN Dyskeratosis congenita, autosomal recessive 6 mondo_mondo_0014600_medgen_c4225356_omim_616353 MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLYCD Deficiency of malonyl-CoA decarboxylase mondo_mondo_0009556_medgen_c0342793_omim_248360_orphanet_943 MONDO:MONDO:0009556,MedGen:C0342793,OMIM:248360,Orphanet:943 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Blepharophimosis - intellectual disability syndrome, SBBYS type mondo_mondo_0011365_medgen_c1863557_omim_603736_orphanet_3047 MONDO:MONDO:0011365,MedGen:C1863557,OMIM:603736,Orphanet:3047 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HAX1 Kostmann syndrome mondo_mondo_0012548_medgen_c5235141_omim_610738_orphanet_99749 MONDO:MONDO:0012548,MedGen:C5235141,OMIM:610738,Orphanet:99749 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA3 Hypoparathyroidism, deafness, renal disease syndrome mondo_mondo_0007797_medgen_c1840333_omim_146255_orphanet_2237 MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 mondo_mondo_0009678_medgen_c0410174_omim_253800_orphanet_272_orphanet_588_orphanet_899 MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Melanoma-pancreatic cancer syndrome mondo_mondo_0011713_medgen_c1838547_omim_606719_orphanet_404560 MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719,Orphanet:404560 62 62 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF2 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 Axenfeld-Rieger syndrome type 1 mondo_mondo_0008386_medgen_c3714873_omim_180500_orphanet_782 MONDO:MONDO:0008386,MedGen:C3714873,OMIM:180500,Orphanet:782 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDCD10 Cerebral cavernous malformation 3 mondo_mondo_0011305_medgen_c1864040_omim_603285_orphanet_221061 MONDO:MONDO:0011305,MedGen:C1864040,OMIM:603285,Orphanet:221061 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MUSK Fetal akinesia deformation sequence 1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCPH1 Microcephaly 1, primary, autosomal recessive mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS4 Hermansky-Pudlak syndrome 4 mondo_mondo_0013556_medgen_c3484357_omim_614073_orphanet_231500_orphanet_79430 MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBF3 Hypotonia, ataxia, and delayed development syndrome mondo_mondo_0015021_medgen_c4310618_omim_617330_orphanet_658843 MONDO:MONDO:0015021,MedGen:C4310618,OMIM:617330,Orphanet:658843 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Charcot-Marie-Tooth disease axonal type 2O mondo_mondo_0013644_medgen_c3280220_omim_614228_orphanet_284232 MONDO:MONDO:0013644,MedGen:C3280220,OMIM:614228,Orphanet:284232 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27B1 Vitamin D-dependent rickets, type 1A mondo_mondo_0020723_medgen_cn283242_omim_264700 MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Glaucoma 3A mondo_mondo_0009277_medgen_c1856439_omim_231300_orphanet_98976_orphanet_98977 MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Congenital glaucoma mondo_mondo_0020366_medgen_c0020302 MONDO:MONDO:0020366,MedGen:C0020302 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFH Age related macular degeneration 4 mondo_mondo_0012540_medgen_c1853147_omim_610698 MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B1 Benign recurrent intrahepatic cholestasis type 1 mondo_mondo_0009469_medgen_c4551899_omim_243300_orphanet_65682_orphanet_99960 MONDO:MONDO:0009469,MedGen:C4551899,OMIM:243300,Orphanet:65682,Orphanet:99960 61 61 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XIAP X-linked lymphoproliferative disease due to XIAP deficiency mondo_mondo_0010385_medgen_c1845076_omim_300635_orphanet_2442_orphanet_538934 MONDO:MONDO:0010385,MedGen:C1845076,OMIM:300635,Orphanet:2442,Orphanet:538934 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC11 Autosomal recessive limb-girdle muscular dystrophy type R18 mondo_mondo_0014144_medgen_c4517996_omim_615356_orphanet_369840 MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM127 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA2 Nicolaides-Baraitser syndrome mondo_mondo_0011053_medgen_c1303073_omim_601358_orphanet_3051 MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC17A5 Sialic acid storage disease, severe infantile type mondo_mondo_0010027_medgen_c1096902_omim_269920_orphanet_309324_orphanet_834 MONDO:MONDO:0010027,MedGen:C1096902,OMIM:269920,Orphanet:309324,Orphanet:834 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1B Intellectual developmental disorder with seizures and language delay mondo_mondo_0033559_medgen_c5436574_omim_619000 MONDO:MONDO:0033559,MedGen:C5436574,OMIM:619000 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAI1 Smith-Magenis syndrome mondo_mondo_0008434_medgen_c0795864_omim_182290_orphanet_819 MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX26 Peroxisome biogenesis disorder 7A (Zellweger) mondo_mondo_0013938_medgen_c3888385_omim_614872_orphanet_912 MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK3 Wolcott-Rallison dysplasia mondo_mondo_0009192_medgen_c0432217_omim_226980_orphanet_1667 MONDO:MONDO:0009192,MedGen:C0432217,OMIM:226980,Orphanet:1667 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8A Autosomal recessive ataxia due to ubiquinone deficiency mondo_mondo_0012784_medgen_c2677589_omim_612016_orphanet_139485 MONDO:MONDO:0012784,MedGen:C2677589,OMIM:612016,Orphanet:139485 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN8 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA2D2 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID2 Coffin-Siris syndrome 6 mondo_mondo_0033492_medgen_c4540499_omim_617808 MONDO:MONDO:0033492,MedGen:C4540499,OMIM:617808 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGRN Congenital myasthenic syndrome 8 mondo_mondo_0014052_medgen_c3808739_omim_615120_orphanet_590 MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590 60 60 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC7A Multiple gastrointestinal atresias mondo_mondo_0009465_medgen_c0220744_orphanet_2300 MONDO:MONDO:0009465,MedGen:C0220744,Orphanet:2300 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB Vesicoureteral reflux 8 mondo_mondo_0014422_medgen_c4014831_omim_615963_orphanet_289365 MONDO:MONDO:0014422,MedGen:C4014831,OMIM:615963,Orphanet:289365 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN3 Orofacial-digital syndrome IV mondo_mondo_0009794_medgen_c0406727_omim_258860_orphanet_2753 MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A5 Hyperekplexia 3 mondo_mondo_0013827_medgen_c3553288_omim_614618_orphanet_3197 MONDO:MONDO:0013827,MedGen:C3553288,OMIM:614618,Orphanet:3197 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEPSECS Pontocerebellar hypoplasia type 2D mondo_mondo_0013438_medgen_c3151140_omim_613811_orphanet_247198_orphanet_2524 MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:247198,Orphanet:2524 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL1 Townes-Brocks syndrome 1 mondo_mondo_0054581_medgen_c4551481_omim_107480_orphanet_857 MONDO:MONDO:0054581,MedGen:C4551481,OMIM:107480,Orphanet:857 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant mondo_mondo_0007509_medgen_c3888065_omim_129490_orphanet_1810_orphanet_238468 MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 LEOPARD syndrome 1 mondo_mondo_0100082_medgen_c4551484_omim_151100_orphanet_500 MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100,Orphanet:500 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Nephronophthisis 3 mondo_mondo_0011456_medgen_c1858392_omim_604387_orphanet_655 MONDO:MONDO:0011456,MedGen:C1858392,OMIM:604387,Orphanet:655 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Brain-lung-thyroid syndrome mondo_mondo_0012593_medgen_c1970269_omim_610978_orphanet_209905 MONDO:MONDO:0012593,MedGen:C1970269,OMIM:610978,Orphanet:209905 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF5 Mitochondrial complex I deficiency, nuclear type 16 mondo_mondo_0032621_medgen_c4748785_omim_618238 MONDO:MONDO:0032621,MedGen:C4748785,OMIM:618238 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEAL2 Gray platelet syndrome mondo_mondo_0007686_medgen_c0272302_omim_139090_orphanet_721 MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYLK Aortic aneurysm, familial thoracic 7 mondo_mondo_0013418_medgen_c3151077_omim_613780 MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MKS1 Joubert syndrome 28 mondo_mondo_0014928_medgen_c4310705_omim_617121 MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFRP Isolated microphthalmia 5 mondo_mondo_0012605_medgen_c1970236_omim_611040_orphanet_251279 MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant mondo_mondo_0007509_medgen_c3888065_omim_129490_orphanet_1810_orphanet_238468 MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B2 Corticosterone methyl oxidase type II deficiency corticosterone_methyl_oxidase_type_ii_deficiency . 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ2 Catecholaminergic polymorphic ventricular tachycardia 1 mondo_mondo_0011484_medgen_c1631597_omim_604772_orphanet_3286 MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C1QTNF5 Isolated microphthalmia 5 mondo_mondo_0012605_medgen_c1970236_omim_611040_orphanet_251279 MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC2 Dubin-Johnson syndrome mondo_mondo_0009380_medgen_c0022350_omim_237500_orphanet_234 MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Progressive familial intrahepatic cholestasis type 3 mondo_mondo_0011214_medgen_c1865643_omim_602347_orphanet_79305 MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305 59 59 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB3 Rienhoff syndrome mondo_mondo_0014262_medgen_c3810012_omim_615582 MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN3 Joubert syndrome 18 mondo_mondo_0013896_medgen_c3553758_omim_614815_orphanet_2754 MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QDPR Dihydropteridine reductase deficiency mondo_mondo_0009862_medgen_c0268465_omim_261630_orphanet_226_orphanet_238583 MONDO:MONDO:0009862,MedGen:C0268465,OMIM:261630,Orphanet:226,Orphanet:238583 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPC2 Niemann-Pick disease, type C2 mondo_mondo_0011873_medgen_c1843366_omim_607625_orphanet_646 MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2C KMT2C-related NDD kmt2c_related_ndd . 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Developmental and epileptic encephalopathy, 14 mondo_mondo_0013989_medgen_c3554195_omim_614959_orphanet_293181 MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA7 Congenital muscular dystrophy due to integrin alpha-7 deficiency mondo_mondo_0013177_medgen_c2750786_omim_613204_orphanet_34520 MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNRNPK Au-Kline syndrome mondo_mondo_0014700_medgen_c4225274_omim_616580_orphanet_2729_orphanet_453499_orphanet_453504 MONDO:MONDO:0014700,MedGen:C4225274,OMIM:616580,Orphanet:2729,Orphanet:453499,Orphanet:453504 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Maturity-onset diabetes of the young type 1 mondo_mondo_0007452_medgen_c1852093_omim_125850_orphanet_552 MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCL Fanconi anemia complementation group L mondo_mondo_0013566_medgen_c3469528_omim_614083_orphanet_84 MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083,Orphanet:84 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLTC Intellectual disability, autosomal dominant 56 mondo_mondo_0030922_medgen_c4693389_omim_617854 MONDO:MONDO:0030922,MedGen:C4693389,OMIM:617854 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A4 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss mondo_mondo_0011268_medgen_c5399980_omim_602722 MONDO:MONDO:0011268,MedGen:C5399980,OMIM:602722 58 58 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Nephronophthisis 13 mondo_mondo_0013718_medgen_c3280612_omim_614377_orphanet_655 MONDO:MONDO:0013718,MedGen:C3280612,OMIM:614377,Orphanet:655 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX1B Generalized epilepsy with febrile seizures plus, type 9 mondo_mondo_0014517_medgen_c4015395_omim_616172_orphanet_36387 MONDO:MONDO:0014517,MedGen:C4015395,OMIM:616172,Orphanet:36387 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPAG1 Primary ciliary dyskinesia 28 mondo_mondo_0014216_medgen_c3809706_omim_615505_orphanet_244 MONDO:MONDO:0014216,MedGen:C3809706,OMIM:615505,Orphanet:244 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX5 Lamb-Shaffer syndrome mondo_mondo_0014778_medgen_c4225202_omim_616803_orphanet_313884_orphanet_313892_orphanet_530983 MONDO:MONDO:0014778,MedGen:C4225202,OMIM:616803,Orphanet:313884,Orphanet:313892,Orphanet:530983 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 Neonatal intrahepatic cholestasis due to citrin deficiency mondo_mondo_0011601_medgen_c1853942_omim_605814_orphanet_247598 MONDO:MONDO:0011601,MedGen:C1853942,OMIM:605814,Orphanet:247598 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Histiocytic medullary reticulosis mondo_mondo_0011338_medgen_c2700553_omim_603554_orphanet_39041 MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NMNAT1 Leber congenital amaurosis 9 mondo_mondo_0012056_medgen_c1837873_omim_608553_orphanet_65 MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CR2 Immunodeficiency, common variable, 7 mondo_mondo_0013862_medgen_c3542922_omim_614699_orphanet_1572_orphanet_696894 MONDO:MONDO:0013862,MedGen:C3542922,OMIM:614699,Orphanet:1572,Orphanet:696894 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Bartter disease type 3 mondo_mondo_0011822_medgen_c1846343_omim_607364_orphanet_112_orphanet_93605 MONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364,Orphanet:112,Orphanet:93605 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASAH1 Farber lipogranulomatosis mondo_mondo_0009218_medgen_c0268255_omim_228000_orphanet_333 MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000,Orphanet:333 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP5Z1 Hereditary spastic paraplegia 48 mondo_mondo_0013342_medgen_c3150901_omim_613647_orphanet_306511 MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS1 Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 57 57 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 Cranioectodermal dysplasia 2 mondo_mondo_0013323_medgen_c3150874_omim_613610_orphanet_1515 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA7 Leber congenital amaurosis 3 mondo_mondo_0011415_medgen_c1858677_omim_604232 MONDO:MONDO:0011415,MedGen:C1858677,OMIM:604232 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB9B Hereditary spastic paraplegia 2 mondo_mondo_0010733_medgen_c0751604_omim_312920_orphanet_99015 MONDO:MONDO:0010733,MedGen:C0751604,OMIM:312920,Orphanet:99015 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLP1 Hereditary spastic paraplegia 2 mondo_mondo_0010733_medgen_c0751604_omim_312920_orphanet_99015 MONDO:MONDO:0010733,MedGen:C0751604,OMIM:312920,Orphanet:99015 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Neurodegeneration with brain iron accumulation 2B mondo_mondo_0012444_medgen_c1857747_omim_610217_orphanet_35069 MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217,Orphanet:35069 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO2 Arthrogryposis, distal, with impaired proprioception and touch mondo_mondo_0014941_medgen_c4310692_omim_617146 MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIFR Stuve-Wiedemann syndrome mondo_mondo_0031280_medgen_c0796176_omim_ps601559_orphanet_3206 MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLRAP1 Hypercholesterolemia, familial, 4 mondo_mondo_0011374_medgen_c1863512_omim_603813_orphanet_391665 MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPRT1 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency mondo_mondo_0010299_medgen_c0268117_omim_300323_orphanet_79233 MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFAP Alexander disease mondo_mondo_0008752_medgen_c0270726_omim_203450_orphanet_58 MONDO:MONDO:0008752,MedGen:C0270726,OMIM:203450,Orphanet:58 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Peroxisome biogenesis disorder 1A (Zellweger) mondo_mondo_0008953_medgen_c4721541_omim_214100 MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 mondo_mondo_0014071_medgen_c3554638_omim_615181_orphanet_588_orphanet_899 MONDO:MONDO:0014071,MedGen:C3554638,OMIM:615181,Orphanet:588,Orphanet:899 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASH1L Intellectual disability, autosomal dominant 52 mondo_mondo_0030918_medgen_c4540478_omim_617796 MONDO:MONDO:0030918,MedGen:C4540478,OMIM:617796 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMN Imerslund-Grasbeck syndrome mondo_mondo_0009853_medgen_c4551825_omim_ps261100_orphanet_35858 MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858 56 56 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF462 Weiss-Kruszka syndrome mondo_mondo_0032836_medgen_c5568107_omim_618619_orphanet_502430 MONDO:MONDO:0032836,MedGen:C5568107,OMIM:618619,Orphanet:502430 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR35 Short-rib thoracic dysplasia 7 with or without polydactyly mondo_mondo_0013569_medgen_c3279792_omim_614091_orphanet_498497_orphanet_93271 MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Orphanet:498497,Orphanet:93271 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSFM Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 mondo_mondo_0012512_medgen_c1864840_omim_610505_orphanet_168566 MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT1 Immunodeficiency 31B mondo_mondo_0013427_medgen_c3151088_omim_613796_orphanet_391311 MONDO:MONDO:0013427,MedGen:C3151088,OMIM:613796,Orphanet:391311 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPINK5 Netherton syndrome mondo_mondo_0009735_medgen_c5574950_omim_256500_orphanet_634 MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOX11 Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism mondo_mondo_0014376_medgen_c4014528_omim_615866_orphanet_1465 MONDO:MONDO:0014376,MedGen:C4014528,OMIM:615866,Orphanet:1465 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Intellectual disability, autosomal dominant 29 mondo_mondo_0014482_medgen_c4015141_omim_616078_orphanet_436151 MONDO:MONDO:0014482,MedGen:C4015141,OMIM:616078,Orphanet:436151 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS19 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Fetal akinesia deformation sequence 2 mondo_mondo_0100102_medgen_c4760576_omim_618388 MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism mondo_mondo_0011897_medgen_cn034185_omim_607694_orphanet_137639_orphanet_447893_orphanet_447896_orphanet_77295_orphanet_88637 MONDO:MONDO:0011897,MedGen:CN034185,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD2 Primary ciliary dyskinesia 23 mondo_mondo_0014193_medgen_c3809548_omim_615451_orphanet_244 MONDO:MONDO:0014193,MedGen:C3809548,OMIM:615451,Orphanet:244 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYT1L Intellectual disability, autosomal dominant 39 mondo_mondo_0014678_medgen_c4225296_omim_616521 MONDO:MONDO:0014678,MedGen:C4225296,OMIM:616521 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH11 Aortic aneurysm, familial thoracic 4 mondo_mondo_0007568_medgen_c1851504_omim_132900 MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMBRD1 Methylmalonic aciduria and homocystinuria type cblF mondo_mondo_0010183_medgen_c1848578_omim_277380_orphanet_79284 MONDO:MONDO:0010183,MedGen:C1848578,OMIM:277380,Orphanet:79284 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM X-linked hydrocephalus syndrome mondo_mondo_0010611_medgen_c0265216_omim_307000_orphanet_2182 MONDO:MONDO:0010611,MedGen:C0265216,OMIM:307000,Orphanet:2182 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Andersen Tawil syndrome mondo_mondo_0008222_medgen_c1563715_omim_170390_orphanet_37553 MONDO:MONDO:0008222,MedGen:C1563715,OMIM:170390,Orphanet:37553 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6B Genitopatellar syndrome mondo_mondo_0011640_medgen_c1853566_omim_606170_orphanet_85201 MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures mondo_mondo_0060759_medgen_c4748127_omim_618088_orphanet_597623 MONDO:MONDO:0060759,MedGen:C4748127,OMIM:618088,Orphanet:597623 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL7R Immunodeficiency 104 mondo_mondo_0012163_medgen_c5676890_omim_608971 MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD3B2 3 beta-Hydroxysteroid dehydrogenase deficiency mondo_mondo_0008727_mesh_c538236_medgen_c0342471_omim_201810_orphanet_90791 MONDO:MONDO:0008727,MeSH:C538236,MedGen:C0342471,OMIM:201810,Orphanet:90791 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Epilepsy, childhood absence, susceptibility to, 5 mondo_mondo_0012843_medgen_c2677087_omim_612269_orphanet_64280 MONDO:MONDO:0012843,MedGen:C2677087,OMIM:612269,Orphanet:64280 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FARS2 Combined oxidative phosphorylation defect type 14 mondo_mondo_0013986_medgen_c4755312_omim_614946_orphanet_319519 MONDO:MONDO:0013986,MedGen:C4755312,OMIM:614946,Orphanet:319519 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ELANE Cyclical neutropenia human_phenotype_ontology_hp_0040289_mondo_mondo_0008090_medgen_c0221023_omim_162800_orphanet_2686 Human_Phenotype_Ontology:HP:0040289,MONDO:MONDO:0008090,MedGen:C0221023,OMIM:162800,Orphanet:2686 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Intellectual disability, autosomal dominant 13 mondo_mondo_0013805_medgen_c3281202_omim_614563 MONDO:MONDO:0013805,MedGen:C3281202,OMIM:614563 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX41 DDX41-related hematologic malignancy predisposition syndrome mondo_mondo_0014809_medgen_c4225174_omim_616871_orphanet_488647 MONDO:MONDO:0014809,MedGen:C4225174,OMIM:616871,Orphanet:488647 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTLA4 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency mondo_mondo_0014493_medgen_c4015214_omim_616100_orphanet_436159 MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC39 Primary ciliary dyskinesia 14 mondo_mondo_0013434_medgen_c3151136_omim_613807_orphanet_244 MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCHE Deficiency of butyrylcholinesterase mondo_mondo_0015270_medgen_c1283400_omim_617936_orphanet_132 MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAN Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans mondo_mondo_0100462_medgen_c3665488_omim_165800_orphanet_251262 MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262 55 55 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Autosomal recessive spinocerebellar ataxia 12 mondo_mondo_0013687_medgen_c3280452_omim_614322_orphanet_284282 MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322,Orphanet:284282 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA Familial isolated deficiency of vitamin E mondo_mondo_0010188_medgen_c1848533_omim_277460_orphanet_96 MONDO:MONDO:0010188,MedGen:C1848533,OMIM:277460,Orphanet:96 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 TP63-Related Spectrum Disorders tp63_related_spectrum_disorders . 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYN1 Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders mondo_mondo_0010339_medgen_c5774177_omim_300491_orphanet_85294 MONDO:MONDO:0010339,MedGen:C5774177,OMIM:300491,Orphanet:85294 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A2 Oculocutaneous albinism type 4 mondo_mondo_0011683_medgen_c1847836_omim_606574_orphanet_79435 MONDO:MONDO:0011683,MedGen:C1847836,OMIM:606574,Orphanet:79435 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX2 Cleidocranial dysostosis mondo_mondo_0007340_medgen_c0008928_omim_119600_orphanet_1452 MONDO:MONDO:0007340,MedGen:C0008928,OMIM:119600,Orphanet:1452 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA PIK3CA related overgrowth syndrome mondo_mondo_1040002_medgen_c4728213_orphanet_530313 MONDO:MONDO:1040002,MedGen:C4728213,Orphanet:530313 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHS Nance-Horan syndrome mondo_mondo_0010545_medgen_c0796085_omim_302350_orphanet_627 MONDO:MONDO:0010545,MedGen:C0796085,OMIM:302350,Orphanet:627 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Charcot-Marie-Tooth disease type 1B mondo_mondo_0007307_medgen_c0270912_omim_118200_orphanet_101082 MONDO:MONDO:0007307,MedGen:C0270912,OMIM:118200,Orphanet:101082 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALE UDPglucose-4-epimerase deficiency mondo_mondo_0009257_medgen_c0751161_omim_230350_orphanet_352_orphanet_79238 MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXF1 Alveolar capillary dysplasia with pulmonary venous misalignment mondo_mondo_0009934_medgen_c2960310_omim_265380_orphanet_210122 MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FMO3 Trimethylaminuria human_phenotype_ontology_hp_0003614_mondo_mondo_0011182_medgen_c0342739_omim_602079 Human_Phenotype_Ontology:HP:0003614,MONDO:MONDO:0011182,MedGen:C0342739,OMIM:602079 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCAF17 Woodhouse-Sakati syndrome mondo_mondo_0009419_medgen_c0342286_omim_241080_orphanet_3464 MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DARS2 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome mondo_mondo_0012622_medgen_c1970180_omim_611105_orphanet_137898 MONDO:MONDO:0012622,MedGen:C1970180,OMIM:611105,Orphanet:137898 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN3 Juvenile neuronal ceroid lipofuscinosis mondo_mondo_0019262_medgen_cn293564_orphanet_79264 MONDO:MONDO:0019262,MedGen:CN293564,Orphanet:79264 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations mondo_mondo_0007738_medgen_c1837657_omim_143095_orphanet_263463 MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095,Orphanet:263463 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCS1L Mitochondrial complex III deficiency nuclear type 1 mondo_mondo_0007415_medgen_c3541471_omim_124000_orphanet_254902 MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000,Orphanet:254902 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AAAS Glucocorticoid deficiency with achalasia mondo_mondo_0009279_medgen_c0271742_omim_231550_orphanet_869 MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550,Orphanet:869 54 54 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT1 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency mondo_mondo_0013956_medgen_c4013950_omim_614892_orphanet_319595 MONDO:MONDO:0013956,MedGen:C4013950,OMIM:614892,Orphanet:319595 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPEN Radio-Tartaglia syndrome mondo_mondo_0859143_medgen_c5543339_omim_619312_orphanet_662234 MONDO:MONDO:0859143,MedGen:C5543339,OMIM:619312,Orphanet:662234 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A2 Fanconi-Bickel syndrome mondo_mondo_0009216_medgen_c3495427_omim_227810_orphanet_2088 MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 Mucopolysaccharidosis type 1 mondo_mondo_0001586_medgen_c0023786_orphanet_579 MONDO:MONDO:0001586,MedGen:C0023786,Orphanet:579 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NRXN1 Pitt-Hopkins-like syndrome 2 mondo_mondo_0013690_medgen_c3280479_omim_614325_orphanet_221150 MONDO:MONDO:0013690,MedGen:C3280479,OMIM:614325,Orphanet:221150 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MLC1 Megalencephalic leukoencephalopathy with subcortical cysts mondo_mondo_0011391_medgen_c1858854_orphanet_2478 MONDO:MONDO:0011391,MedGen:C1858854,Orphanet:2478 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Tietz syndrome mondo_mondo_0007077_medgen_c0391816_omim_103500_orphanet_42665 MONDO:MONDO:0007077,MedGen:C0391816,OMIM:103500,Orphanet:42665 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMX1B Nail-patella syndrome mondo_mondo_0008061_medgen_c0027341_omim_161200_orphanet_2614 MONDO:MONDO:0008061,MedGen:C0027341,OMIM:161200,Orphanet:2614 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYAL1 Deficiency of hyaluronoglucosaminidase mondo_mondo_0011093_medgen_c1291490_omim_601492_orphanet_67041 MONDO:MONDO:0011093,MedGen:C1291490,OMIM:601492,Orphanet:67041 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Heimler syndrome 1 medgen_c4551980_omim_234580_orphanet_3220 MedGen:C4551980,OMIM:234580,Orphanet:3220 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 Arterial calcification, generalized, of infancy, 1 mondo_mondo_0008817_medgen_c4551985_omim_208000_orphanet_51608 MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN1B Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVPR2 Diabetes insipidus, nephrogenic, X-linked mondo_mondo_0010581_medgen_c1563705_omim_304800_orphanet_223 MONDO:MONDO:0010581,MedGen:C1563705,OMIM:304800,Orphanet:223 53 53 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 mondo_mondo_0013553_medgen_c3279748_omim_614069_orphanet_2268 MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIOBP Autosomal recessive nonsyndromic hearing loss 28 mondo_mondo_0012355_medgen_c1853276_omim_609823_orphanet_90636 MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mondo_mondo_0008641_medgen_c1860518_omim_192315_orphanet_247691_orphanet_3421_orphanet_63261_orphanet_71291 MONDO:MONDO:0008641,MedGen:C1860518,OMIM:192315,Orphanet:247691,Orphanet:3421,Orphanet:63261,Orphanet:71291 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC13A5 Developmental and epileptic encephalopathy, 25 mondo_mondo_0014392_medgen_c4014621_omim_615905_orphanet_442835 MONDO:MONDO:0014392,MedGen:C4014621,OMIM:615905,Orphanet:442835 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 46,XY sex reversal 3 mondo_mondo_0013066_medgen_c3489793_omim_612965 MONDO:MONDO:0013066,MedGen:C3489793,OMIM:612965 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Charcot-Marie-Tooth disease type 2A2 mondo_mondo_0012231_medgen_c4721887_omim_609260_orphanet_99947 MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIPA Cholesteryl ester storage disease mondo_mondo_0019149_medgen_c0008384_omim_278000_orphanet_75234 MONDO:MONDO:0019149,MedGen:C0008384,OMIM:278000,Orphanet:75234 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS1 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase deficiency mondo_mondo_0011614_medgen_c2751532_omim_605911_orphanet_35701 MONDO:MONDO:0011614,MedGen:C2751532,OMIM:605911,Orphanet:35701 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GAN Giant axonal neuropathy 1 mondo_mondo_0009749_medgen_c1850386_omim_256850_orphanet_643 MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850,Orphanet:643 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBP1 Fructose-biphosphatase deficiency mondo_mondo_0009251_medgen_c0016756_omim_229700_orphanet_348 MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTCF CTCF-related neurodevelopmental disorder mondo_mondo_0014213_medgen_c3809686_omim_615502_orphanet_363611 MONDO:MONDO:0014213,MedGen:C3809686,OMIM:615502,Orphanet:363611 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST6 Macular corneal dystrophy mondo_mondo_0009020_medgen_c1636149_omim_217800_orphanet_98969 MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFH Factor H deficiency mondo_mondo_0012350_medgen_c0398777_omim_609814 MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRPF1 Intellectual developmental disorder with dysmorphic facies and ptosis mondo_mondo_0015022_medgen_c4310617_omim_617333_orphanet_698090 MONDO:MONDO:0015022,MedGen:C4310617,OMIM:617333,Orphanet:698090 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUTS2 Autism spectrum disorder due to AUTS2 deficiency mondo_mondo_0014361_medgen_c4014435_omim_615834_orphanet_352490 MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mondo_mondo_0008641_medgen_c1860518_omim_192315_orphanet_247691_orphanet_3421_orphanet_63261_orphanet_71291 MONDO:MONDO:0008641,MedGen:C1860518,OMIM:192315,Orphanet:247691,Orphanet:3421,Orphanet:63261,Orphanet:71291 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX Intellectual disability, X-linked, with or without seizures, ARX-related mondo_mondo_0010317_medgen_c0796244_omim_300419_orphanet_777 MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419,Orphanet:777 52 52 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM6 Intestinal hypomagnesemia 1 mondo_mondo_0011176_medgen_c1865974_omim_602014_orphanet_30924 MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TREX1 Chilblain lupus 1 mondo_mondo_0012500_medgen_c0024145_omim_610448 MONDO:MONDO:0012500,MedGen:C0024145,OMIM:610448 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT3 STAT3 gain of function medgen_c4288261 MedGen:C4288261 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC3 Cornelia de Lange syndrome 3 mondo_mondo_0012555_medgen_c1853099_omim_610759_orphanet_199 MONDO:MONDO:0012555,MedGen:C1853099,OMIM:610759,Orphanet:199 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 mondo_mondo_0013756_medgen_c3280800_omim_614441_orphanet_2796 MONDO:MONDO:0013756,MedGen:C3280800,OMIM:614441,Orphanet:2796 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RANBP2 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome mondo_mondo_0016619_medgen_c0406702_orphanet_248 MONDO:MONDO:0016619,MedGen:C0406702,Orphanet:248 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence QRICH1 Ververi-Brady syndrome mondo_mondo_0979877_medgen_c4693824_omim_ps617982 MONDO:MONDO:0979877,MedGen:C4693824,OMIM:PS617982 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREPL Myasthenic syndrome, congenital, 22 mondo_mondo_0044299_medgen_c4479088_omim_616224 MONDO:MONDO:0044299,MedGen:C4479088,OMIM:616224 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PBX1 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay mondo_mondo_0060549_medgen_c4539968_omim_617641_orphanet_656130 MONDO:MONDO:0060549,MedGen:C4539968,OMIM:617641,Orphanet:656130 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Autosomal recessive nonsyndromic hearing loss 18B mondo_mondo_0013985_medgen_c3554163_omim_614945_orphanet_90636 MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPTN Amyotrophic lateral sclerosis type 12 mondo_mondo_0013264_medgen_c3150692_omim_613435_orphanet_803 MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGEL2 Schaaf-Yang syndrome mondo_mondo_0014243_medgen_c5575066_omim_615547_orphanet_398069 MONDO:MONDO:0014243,MedGen:C5575066,OMIM:615547,Orphanet:398069 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2B Dystonia 28, childhood-onset mondo_mondo_0015004_medgen_c4310633_omim_617284_orphanet_589618 MONDO:MONDO:0015004,MedGen:C4310633,OMIM:617284,Orphanet:589618 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HJV Hemochromatosis type 2A mondo_mondo_0011216_medgen_c1865614_omim_602390_orphanet_79230 MONDO:MONDO:0011216,MedGen:C1865614,OMIM:602390,Orphanet:79230 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Bernard Soulier syndrome mondo_mondo_0009276_mesh_d001606_medgen_c0005129_omim_231200_orphanet_274 MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Epilepsy, childhood absence, susceptibility to, 1 mondo_mondo_0020759_medgen_c1838604_omim_600131_orphanet_64280 MONDO:MONDO:0020759,MedGen:C1838604,OMIM:600131,Orphanet:64280 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 Vanishing white matter disease mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EDAR Autosomal recessive hypohidrotic ectodermal dysplasia syndrome mondo_mondo_0016619_medgen_c0406702_orphanet_248 MONDO:MONDO:0016619,MedGen:C0406702,Orphanet:248 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECEL1 Distal arthrogryposis type 5D mondo_mondo_0014028_medgen_c3554415_omim_615065_orphanet_329457 MONDO:MONDO:0014028,MedGen:C3554415,OMIM:615065,Orphanet:329457 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT3 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies mondo_mondo_0032864_medgen_c5231456_omim_618672 MONDO:MONDO:0032864,MedGen:C5231456,OMIM:618672 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Autosomal recessive multiple pterygium syndrome mondo_mondo_0009926_medgen_c0265261_omim_265000_orphanet_2990 MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS5 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRIP Chilblain lupus 1 mondo_mondo_0012500_medgen_c0024145_omim_610448 MONDO:MONDO:0012500,MedGen:C0024145,OMIM:610448 51 51 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND11 Intellectual disability, autosomal dominant 30 mondo_mondo_0014486_medgen_c4015167_omim_616083_orphanet_436151_orphanet_694304 MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083,Orphanet:436151,Orphanet:694304 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Developmental and epileptic encephalopathy, 1 mondo_mondo_0010632_medgen_c3463992_omim_308350 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIP12 Clark-Baraitser syndrome mondo_mondo_0030914_medgen_c2931130_omim_617752_orphanet_600731 MONDO:MONDO:0030914,MedGen:C2931130,OMIM:617752,Orphanet:600731 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A3 Autism spectrum disorder - epilepsy - arthrogryposis syndrome mondo_mondo_0014248_medgen_c3809910_omim_615553_orphanet_370943 MONDO:MONDO:0014248,MedGen:C3809910,OMIM:615553,Orphanet:370943 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A38 Sideroblastic anemia 2 mondo_mondo_0008785_medgen_c4225425_omim_205950_orphanet_260305 MONDO:MONDO:0008785,MedGen:C4225425,OMIM:205950,Orphanet:260305 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKG2 Glycogen storage disease IXc mondo_mondo_0013091_medgen_c2751643_omim_613027_orphanet_264580 MONDO:MONDO:0013091,MedGen:C2751643,OMIM:613027,Orphanet:264580 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OFD1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPR2 Tall stature-scoliosis-macrodactyly of the great toes syndrome mondo_mondo_0014401_medgen_c4014690_omim_615923_orphanet_329191 MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923,Orphanet:329191 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 NPHP3-related Meckel-like syndrome mondo_mondo_0009966_medgen_c2673885_omim_267010_orphanet_3032 MONDO:MONDO:0009966,MedGen:C2673885,OMIM:267010,Orphanet:3032 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYPN Dilated cardiomyopathy 1KK mondo_mondo_0014100_medgen_c3714995_omim_615248_orphanet_154_orphanet_75249 MONDO:MONDO:0014100,MedGen:C3714995,OMIM:615248,Orphanet:154,Orphanet:75249 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFN2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ1 Bartter disease type 2 mondo_mondo_0009424_medgen_c1855849_omim_241200_orphanet_112_orphanet_620220 MONDO:MONDO:0009424,MedGen:C1855849,OMIM:241200,Orphanet:112,Orphanet:620220 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INVS Infantile nephronophthisis mondo_mondo_0011190_medgen_c1865872_omim_602088_orphanet_655_orphanet_93591 MONDO:MONDO:0011190,MedGen:C1865872,OMIM:602088,Orphanet:655,Orphanet:93591 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLE1 Lethal congenital contractural syndrome Finnish type lethal_congenital_contractural_syndrome_finnish_type . 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence G6PC3 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency mondo_mondo_0012930_medgen_c2751630_omim_612541_orphanet_331176 MONDO:MONDO:0012930,MedGen:C2751630,OMIM:612541,Orphanet:331176 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2OS Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2AK4 Familial pulmonary capillary hemangiomatosis mondo_mondo_0009329_medgen_c0340848_omim_234810_orphanet_199241 MONDO:MONDO:0009329,MedGen:C0340848,OMIM:234810,Orphanet:199241 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSNK2A1 Okur-Chung neurodevelopmental syndrome mondo_mondo_0014893_medgen_c4310739_omim_617062_orphanet_689422 MONDO:MONDO:0014893,MedGen:C4310739,OMIM:617062,Orphanet:689422 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEBPA Acute myeloid leukemia human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AOPEP Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA12 Autosomal recessive congenital ichthyosis 4B mondo_mondo_0009443_medgen_c0598226_omim_242500_orphanet_457 MONDO:MONDO:0009443,MedGen:C0598226,OMIM:242500,Orphanet:457 50 50 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNK1 Pseudohypoaldosteronism type 2C mondo_mondo_0013778_medgen_c1840391_omim_614492_orphanet_757_orphanet_88940 MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Cranioectodermal dysplasia 4 mondo_mondo_0013719_medgen_c3280616_omim_614378_orphanet_1515 MONDO:MONDO:0013719,MedGen:C3280616,OMIM:614378,Orphanet:1515 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 mondo_mondo_0014777_medgen_c4225203_omim_616801_orphanet_371364_orphanet_700333 MONDO:MONDO:0014777,MedGen:C4225203,OMIM:616801,Orphanet:371364,Orphanet:700333 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TLK2 Intellectual disability, autosomal dominant 57 mondo_mondo_0054837_medgen_c4748003_omim_618050 MONDO:MONDO:0054837,MedGen:C4748003,OMIM:618050 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THRB Thyroid hormone resistance, generalized, autosomal dominant mondo_mondo_0008569_medgen_c2937288_omim_188570 MONDO:MONDO:0008569,MedGen:C2937288,OMIM:188570 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A10 Arterial tortuosity syndrome mondo_mondo_0008818_medgen_c1859726_omim_208050_orphanet_3342 MONDO:MONDO:0008818,MedGen:C1859726,OMIM:208050,Orphanet:3342 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIN3A SIN3A-related intellectual disability syndrome due to a point mutation mondo_mondo_0044700_medgen_c4310804_omim_613406_orphanet_500166_orphanet_94065 MONDO:MONDO:0044700,MedGen:C4310804,OMIM:613406,Orphanet:500166,Orphanet:94065 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Pheochromocytoma/paraganglioma syndrome 1 mondo_mondo_0008192_medgen_c3494181_omim_168000_orphanet_29072 MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB27A Griscelli syndrome type 2 mondo_mondo_0011872_medgen_c1868679_omim_607624_orphanet_381_orphanet_79477 MONDO:MONDO:0011872,MedGen:C1868679,OMIM:607624,Orphanet:381,Orphanet:79477 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP4 Senior-Loken syndrome 4 mondo_mondo_0011756_medgen_c1846979_omim_606996_orphanet_3156 MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYOC Open-angle glaucoma human_phenotype_ontology_hp_0012108_mondo_mondo_0005338_medgen_c0017612 Human_Phenotype_Ontology:HP:0012108,MONDO:MONDO:0005338,MedGen:C0017612 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MITF Melanoma, cutaneous malignant, susceptibility to, 8 mondo_mondo_0013759_medgen_c3152204_omim_614456_orphanet_293822 MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MESP2 Spondylocostal dysostosis 2, autosomal recessive mondo_mondo_0012097_medgen_c1837549_omim_608681_orphanet_2311 MONDO:MONDO:0012097,MedGen:C1837549,OMIM:608681,Orphanet:2311 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HYDIN Primary ciliary dyskinesia 5 mondo_mondo_0012088_medgen_c1837615_omim_608647_orphanet_244 MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSS Glutathione synthetase deficiency with 5-oxoprolinuria human_phenotype_ontology_hp_0003343_mondo_mondo_0009947_medgen_c0398746_omim_266130_orphanet_289846 Human_Phenotype_Ontology:HP:0003343,MONDO:MONDO:0009947,MedGen:C0398746,OMIM:266130,Orphanet:289846 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAN1 Karyomegalic interstitial nephritis mondo_mondo_0013898_medgen_c3553774_omim_614817_orphanet_401996 MONDO:MONDO:0013898,MedGen:C3553774,OMIM:614817,Orphanet:401996 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F7 Congenital factor VII deficiency mondo_mondo_0009211_medgen_c0272320_omim_227500_orphanet_327 MONDO:MONDO:0009211,MedGen:C0272320,OMIM:227500,Orphanet:327 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHTKD1 2-aminoadipic 2-oxoadipic aciduria mondo_mondo_0008774_medgen_c1859817_omim_204750_orphanet_79154 MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG8 ALG8 congenital disorder of glycosylation mondo_mondo_0011969_medgen_c2931002_omim_608104_orphanet_79325 MONDO:MONDO:0011969,MedGen:C2931002,OMIM:608104,Orphanet:79325 49 49 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SZT2 Developmental and epileptic encephalopathy, 18 mondo_mondo_0014201_medgen_c3809624_omim_615476_orphanet_369894 MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC9A6 Christianson syndrome mondo_mondo_0010278_medgen_c2678194_omim_300243_orphanet_85278 MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:85278 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome mondo_mondo_0013875_medgen_c4040739_omim_614739_orphanet_352328 MONDO:MONDO:0013875,MedGen:C4040739,OMIM:614739,Orphanet:352328 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2B Aicardi-Goutieres syndrome 2 mondo_mondo_0012429_medgen_c3489724_omim_610181_orphanet_51 MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Juvenile myelomonocytic leukemia human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 Renal-hepatic-pancreatic dysplasia 1 mondo_mondo_0008833_medgen_c3715199_omim_208540 MONDO:MONDO:0008833,MedGen:C3715199,OMIM:208540 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT80 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Fraser syndrome 2 mondo_mondo_0054738_medgen_c4540036_omim_617666 MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EBP Chondrodysplasia punctata 2 X-linked dominant mondo_mondo_0020603_medgen_c0282102_omim_302960_orphanet_35173 MONDO:MONDO:0020603,MedGen:C0282102,OMIM:302960,Orphanet:35173 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Epidermolysis bullosa, junctional 4, intermediate mondo_mondo_0030750_medgen_c2608084_omim_619787 MONDO:MONDO:0030750,MedGen:C2608084,OMIM:619787 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAMTA1 Cerebellar dysfunction with variable cognitive and behavioral abnormalities mondo_mondo_0013886_medgen_c3553661_omim_614756_orphanet_314647 MONDO:MONDO:0013886,MedGen:C3553661,OMIM:614756,Orphanet:314647 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Cardio-facio-cutaneous syndrome mondo_mondo_0015280_medgen_c1275081_omim_ps115150_orphanet_1340 MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALOXE3 Autosomal recessive congenital ichthyosis 3 mondo_mondo_0011680_medgen_c3539888_omim_606545 MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545 48 48 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB20 Primrose syndrome mondo_mondo_0009798_medgen_c0796121_omim_259050_orphanet_3042 MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZBTB18 Intellectual disability, autosomal dominant 22 mondo_mondo_0012869_medgen_cn029689_omim_612337 MONDO:MONDO:0012869,MedGen:CN029689,OMIM:612337 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Nephronophthisis 12 mondo_mondo_0013442_medgen_c3151186_omim_613820_orphanet_655 MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCF12 TCF12-related craniosynostosis mondo_mondo_0014128_medgen_c3715051_omim_615314_orphanet_35098_orphanet_35099_orphanet_672979 MONDO:MONDO:0014128,MedGen:C3715051,OMIM:615314,Orphanet:35098,Orphanet:35099,Orphanet:672979 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ST3GAL5 GM3 synthase deficiency mondo_mondo_0018274_medgen_c1836824_omim_609056_orphanet_171714_orphanet_370933 MONDO:MONDO:0018274,MedGen:C1836824,OMIM:609056,Orphanet:171714,Orphanet:370933 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A11 Congenital hereditary endothelial dystrophy of cornea mondo_mondo_0009019_medgen_c1857569_omim_217700_orphanet_293603 MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH4A Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS6KA3 Intellectual disability, X-linked 19 mondo_mondo_0010447_medgen_c0796225_omim_300844_orphanet_777 MONDO:MONDO:0010447,MedGen:C0796225,OMIM:300844,Orphanet:777 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROGDI Amelocerebrohypohidrotic syndrome mondo_mondo_0009185_medgen_c0406740_omim_226750_orphanet_1946 MONDO:MONDO:0009185,MedGen:C0406740,OMIM:226750,Orphanet:1946 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Multiple endocrine neoplasia type 2A mondo_mondo_0008234_mesh_d018813_medgen_c0025268_omim_171400_orphanet_247698_orphanet_653 MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKLR Pyruvate kinase deficiency of red cells mondo_mondo_0009950_medgen_c0340968_omim_266200_orphanet_766 MONDO:MONDO:0009950,MedGen:C0340968,OMIM:266200,Orphanet:766 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 Nephronophthisis 1 mondo_mondo_0009728_medgen_c1855681_omim_256100_orphanet_655_orphanet_93592 MONDO:MONDO:0009728,MedGen:C1855681,OMIM:256100,Orphanet:655,Orphanet:93592 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mondo_mondo_0009747_medgen_c1850406_omim_256810_orphanet_255229 MONDO:MONDO:0009747,MedGen:C1850406,OMIM:256810,Orphanet:255229 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Short QT syndrome type 3 mondo_mondo_0012314_medgen_c1865018_omim_609622_orphanet_51083 MONDO:MONDO:0012314,MedGen:C1865018,OMIM:609622,Orphanet:51083 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJC2 Hypomyelinating leukodystrophy 2 mondo_mondo_0012125_medgen_c1837355_omim_608804_orphanet_280270_orphanet_280282 MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804,Orphanet:280270,Orphanet:280282 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA8 Cataract 1 multiple types mondo_mondo_0007285_medgen_c1861828_omim_116200_orphanet_1377 MONDO:MONDO:0007285,MedGen:C1861828,OMIM:116200,Orphanet:1377 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 GATA binding protein 1 related thrombocytopenia with dyserythropoiesis mondo_mondo_0100089_medgen_c1845837 MONDO:MONDO:0100089,MedGen:C1845837 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Xeroderma pigmentosum, group F mondo_mondo_0010215_medgen_c0268140_omim_278760 MONDO:MONDO:0010215,MedGen:C0268140,OMIM:278760 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I2 Short-rib thoracic dysplasia 11 with or without polydactyly mondo_mondo_0014287_medgen_c3810200_omim_615633_orphanet_474_orphanet_93271 MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP24A1 Hypercalcemia, infantile, 1 mondo_mondo_0020739_medgen_cn031131_omim_143880_orphanet_300547 MONDO:MONDO:0020739,MedGen:CN031131,OMIM:143880,Orphanet:300547 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome mondo_mondo_0008322_medgen_c0410538_omim_177170_orphanet_750 MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK13 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder mondo_mondo_0044302_medgen_c4479246_omim_617360_orphanet_646278 MONDO:MONDO:0044302,MedGen:C4479246,OMIM:617360,Orphanet:646278 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Cardiofaciocutaneous syndrome 1 mondo_mondo_0007265_medgen_cn029449_omim_115150_orphanet_1340 MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Cholestasis, intrahepatic, of pregnancy, 3 mondo_mondo_0013995_medgen_c3554241_omim_614972_orphanet_69665 MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665 47 47 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Intellectual developmental disorder, autosomal dominant 64 mondo_mondo_0030934_medgen_c5543067_omim_619188 MONDO:MONDO:0030934,MedGen:C5543067,OMIM:619188 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WWOX Developmental and epileptic encephalopathy, 28 mondo_mondo_0014533_medgen_c4015519_omim_616211_orphanet_442835 MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TJP2 Cholestasis, progressive familial intrahepatic, 4 mondo_mondo_0014381_medgen_c2931067_omim_615878_orphanet_480483_orphanet_79304 MONDO:MONDO:0014381,MedGen:C2931067,OMIM:615878,Orphanet:480483,Orphanet:79304 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCE1 Familial meningioma mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD3 Aneurysm-osteoarthritis syndrome mondo_mondo_0013426_medgen_c3151087_omim_613795_orphanet_284984 MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAPSN Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PINK1 Autosomal recessive early-onset Parkinson disease 6 mondo_mondo_0011613_medgen_c1853833_omim_605909_orphanet_2828 MONDO:MONDO:0011613,MedGen:C1853833,OMIM:605909,Orphanet:2828 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 Zellweger spectrum disorders mondo_mondo_0019609_medgen_c0043459_orphanet_912 MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS2 Steroid-resistant nephrotic syndrome human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Osteoporosis with pseudoglioma mondo_mondo_0009820_medgen_c0432252_omim_259770_orphanet_2788 MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770,Orphanet:2788 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA2 Developmental and epileptic encephalopathy, 32 mondo_mondo_0014607_medgen_c4225350_omim_616366_orphanet_442835 MONDO:MONDO:0014607,MedGen:C4225350,OMIM:616366,Orphanet:442835 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IQCB1 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 Bardet-Biedl syndrome 20 mondo_mondo_0023670_medgen_c4310707_omim_619471 MONDO:MONDO:0023670,MedGen:C4310707,OMIM:619471 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRA1 Hereditary hyperekplexia mondo_mondo_0021022_medgen_c4084968_omim_ps149400_orphanet_3197 MONDO:MONDO:0021022,MedGen:C4084968,OMIM:PS149400,Orphanet:3197 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FBXO7 Parkinsonian-pyramidal syndrome mondo_mondo_0009830_medgen_c1850100_omim_260300_orphanet_171695 MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300,Orphanet:171695 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B1 Glucocorticoid-remediable aldosteronism mondo_mondo_0007080_medgen_c3838731_omim_103900_orphanet_403 MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11A Dias-Logan syndrome mondo_mondo_0014914_medgen_c4310833_omim_617101 MONDO:MONDO:0014914,MedGen:C4310833,OMIM:617101 46 46 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYMP Mitochondrial neurogastrointestinal encephalomyopathy mondo_mondo_0017575_medgen_c0872218_orphanet_298 MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Retinitis pigmentosa 14 mondo_mondo_0010827_medgen_c1838603_omim_600132_orphanet_791 MONDO:MONDO:0010827,MedGen:C1838603,OMIM:600132,Orphanet:791 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR2 Loeys-Dietz syndrome 2 mondo_mondo_0012427_medgen_c2674574_omim_610168_orphanet_284973_orphanet_558 MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168,Orphanet:284973,Orphanet:558 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNJ1 Early-onset Parkinson disease 20 mondo_mondo_0014233_medgen_c3809824_omim_615530_orphanet_391411 MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC29A3 H syndrome mondo_mondo_0011273_medgen_c1864445_omim_602782_orphanet_168569 MONDO:MONDO:0011273,MedGen:C1864445,OMIM:602782,Orphanet:168569 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A5 Developmental and epileptic encephalopathy, 34 mondo_mondo_0014718_medgen_c4225257_omim_616645_orphanet_293181 MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645,Orphanet:293181 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHC Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 SHORT syndrome mondo_mondo_0010026_medgen_c0878684_omim_269880_orphanet_3163 MONDO:MONDO:0010026,MedGen:C0878684,OMIM:269880,Orphanet:3163 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHOX2B Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX12 Peroxisome biogenesis disorder type 3B mondo_mondo_0009959_medgen_c3550693_omim_266510_orphanet_44_orphanet_772 MONDO:MONDO:0009959,MedGen:C3550693,OMIM:266510,Orphanet:44,Orphanet:772 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6A Retinitis pigmentosa 43 mondo_mondo_0013437_medgen_c3151139_omim_613810_orphanet_791 MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 46,XY disorder of sex development mondo_mondo_0020040_medgen_c2751824_orphanet_98085 MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 Charcot-Marie-Tooth disease, axonal, type 2EE mondo_mondo_0032728_medgen_c5193076_omim_618400 MONDO:MONDO:0032728,MedGen:C5193076,OMIM:618400 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Congenital amegakaryocytic thrombocytopenia 1 mondo_mondo_0800452_medgen_c5882667_omim_604498_orphanet_3319 MONDO:MONDO:0800452,MedGen:C5882667,OMIM:604498,Orphanet:3319 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MERTK Retinitis pigmentosa 38 mondo_mondo_0013469_medgen_c3151228_omim_613862_orphanet_791 MONDO:MONDO:0013469,MedGen:C3151228,OMIM:613862,Orphanet:791 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LMOD3 Nemaline myopathy 10 mondo_mondo_0014513_medgen_c4015360_omim_616165 MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Autosomal recessive limb-girdle muscular dystrophy type 2T mondo_mondo_0014142_medgen_c4518000_omim_615352_orphanet_363623 MONDO:MONDO:0014142,MedGen:C4518000,OMIM:615352,Orphanet:363623 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA1 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EXOSC3 Pontocerebellar hypoplasia type 1B mondo_mondo_0013853_medgen_c3553449_omim_614678_orphanet_2254 MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678,Orphanet:2254 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1 Developmental and epileptic encephalopathy, 31A mondo_mondo_0014598_medgen_c4225357_omim_616346_orphanet_2382 MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI1 Kartagener syndrome mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF5 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF3 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4F22 Autosomal recessive congenital ichthyosis 5 gene_50992_mondo_mondo_0011485_medgen_c1858133_omim_604777_orphanet_313 Gene:50992,MONDO:MONDO:0011485,MedGen:C1858133,OMIM:604777,Orphanet:313 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTC1 Cerebroretinal microangiopathy with calcifications and cysts 1 mondo_mondo_0024564_medgen_c4552029_omim_612199_orphanet_313838 MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199,Orphanet:313838 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRPPA Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 mondo_mondo_0013835_medgen_c3553330_omim_614643_orphanet_899 MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Retinitis pigmentosa 61 mondo_mondo_0013610_medgen_c3280041_omim_614180_orphanet_791 MONDO:MONDO:0013610,MedGen:C3280041,OMIM:614180,Orphanet:791 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN8 Neuronal ceroid lipofuscinosis 8 mondo_mondo_0010830_medgen_c1838570_omim_600143_orphanet_168491_orphanet_228354_orphanet_79264 MONDO:MONDO:0010830,MedGen:C1838570,OMIM:600143,Orphanet:168491,Orphanet:228354,Orphanet:79264 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARX X-linked lissencephaly with abnormal genitalia mondo_mondo_0010268_medgen_c1846171_omim_300215_orphanet_452 MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215,Orphanet:452 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 Hereditary spastic paraplegia 47 mondo_mondo_0013551_medgen_c3279738_omim_614066_orphanet_280763 MONDO:MONDO:0013551,MedGen:C3279738,OMIM:614066,Orphanet:280763 45 45 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYM2 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities mondo_mondo_0859190_medgen_c5561984_omim_619522 MONDO:MONDO:0859190,MedGen:C5561984,OMIM:619522 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR Hypothyroidism due to TSH receptor mutations mondo_mondo_0010142_medgen_c3493776_omim_275200_orphanet_90673 MONDO:MONDO:0010142,MedGen:C3493776,OMIM:275200,Orphanet:90673 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM231 Meckel syndrome, type 11 mondo_mondo_0014164_medgen_c3809352_omim_615397_orphanet_564 MONDO:MONDO:0014164,MedGen:C3809352,OMIM:615397,Orphanet:564 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SYNJ1 Developmental and epileptic encephalopathy, 53 mondo_mondo_0033362_medgen_c4479313_omim_617389 MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SURF1 Charcot-Marie-Tooth disease type 4K mondo_mondo_0014733_medgen_c4225246_omim_616684_orphanet_391351 MONDO:MONDO:0014733,MedGen:C4225246,OMIM:616684,Orphanet:391351 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC35A2 SLC35A2-congenital disorder of glycosylation mondo_mondo_0010478_medgen_c3806688_omim_300896_orphanet_356961 MONDO:MONDO:0010478,MedGen:C3806688,OMIM:300896,Orphanet:356961 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart mondo_mondo_0014857_medgen_c5567477_omim_616975_orphanet_494344 MONDO:MONDO:0014857,MedGen:C5567477,OMIM:616975,Orphanet:494344 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCG Spinocerebellar ataxia type 14 mondo_mondo_0011540_medgen_c1854369_omim_605361_orphanet_98763 MONDO:MONDO:0011540,MedGen:C1854369,OMIM:605361,Orphanet:98763 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Autosomal recessive Parkinson disease 14 mondo_mondo_0013060_medgen_c2751842_omim_612953_orphanet_199351 MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953,Orphanet:199351 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX26 Peroxisome biogenesis disorder 7B mondo_mondo_0013939_medgen_c3553951_omim_614873_orphanet_44 MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OBSL1 3M syndrome 2 mondo_mondo_0013039_medgen_c2752041_omim_612921_orphanet_2616 MONDO:MONDO:0013039,MedGen:C2752041,OMIM:612921,Orphanet:2616 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR5A1 Oligosynaptic infertility mondo_mondo_0009776_medgen_c0403810_omim_258150 MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO5B Congenital microvillous atrophy mondo_mondo_0009635_medgen_c0341306_omim_251850_orphanet_2290 MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF10 MEGF10-related myopathy mondo_mondo_0013731_medgen_c3280679_omim_614399_orphanet_439212 MONDO:MONDO:0013731,MedGen:C3280679,OMIM:614399,Orphanet:439212 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK1BP1 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome mondo_mondo_0035133_medgen_c4693860_omim_617991_orphanet_589905 MONDO:MONDO:0035133,MedGen:C4693860,OMIM:617991,Orphanet:589905 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HUWE1 Intellectual disability, X-linked syndromic, Turner type mondo_mondo_0010407_medgen_c2678046_omim_309590_orphanet_3056_orphanet_85328 MONDO:MONDO:0010407,MedGen:C2678046,OMIM:309590,Orphanet:3056,Orphanet:85328 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence GREB1L Renal hypodysplasia/aplasia 3 mondo_mondo_0024520_medgen_c4540497_omim_617805 MONDO:MONDO:0024520,MedGen:C4540497,OMIM:617805 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATAD1 Peroxisome biogenesis disorder 1B mondo_mondo_0011101_medgen_c0282527_omim_601539_orphanet_44 MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Fanconi anemia complementation group Q mondo_mondo_0014108_medgen_c3808988_omim_615272_orphanet_84 MONDO:MONDO:0014108,MedGen:C3808988,OMIM:615272,Orphanet:84 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome mondo_mondo_0014714_medgen_c5567650_omim_616632_orphanet_477814 MONDO:MONDO:0014714,MedGen:C5567650,OMIM:616632,Orphanet:477814 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4V2 Bietti crystalline corneoretinal dystrophy mondo_mondo_0008865_medgen_c1859486_omim_210370_orphanet_41751 MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370,Orphanet:41751 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP19A1 Aromatase deficiency mondo_mondo_0013301_medgen_c1960539_omim_613546_orphanet_91 MONDO:MONDO:0013301,MedGen:C1960539,OMIM:613546,Orphanet:91 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSD Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN16 Primary hypomagnesemia mondo_mondo_0009550_medgen_c0268448_omim_248250_orphanet_31043 MONDO:MONDO:0009550,MedGen:C0268448,OMIM:248250,Orphanet:31043 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A2 ALG9 congenital disorder of glycosylation mondo_mondo_0012117_medgen_c2931006_omim_608776_orphanet_79328 MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK Sengers syndrome mondo_mondo_0008922_medgen_c1859317_omim_212350_orphanet_1369 MONDO:MONDO:0008922,MedGen:C1859317,OMIM:212350,Orphanet:1369 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG5 Sitosterolemia mondo_mondo_0008863_medgen_c0342907_omim_ps210250_orphanet_2882 MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA12 Autosomal recessive congenital ichthyosis 4A mondo_mondo_0011026_medgen_c1832550_omim_601277_orphanet_313 MONDO:MONDO:0011026,MedGen:C1832550,OMIM:601277,Orphanet:313 44 44 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence WNT10A Schöpf-Schulz-Passarge syndrome mondo_mondo_0009145_medgen_c1857069_omim_224750_orphanet_50944 MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR19 Spermatogenic failure 72 mondo_mondo_0030809_medgen_c5676980_omim_619867 MONDO:MONDO:0030809,MedGen:C5676980,OMIM:619867 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYK2 Immunodeficiency 35 mondo_mondo_0012682_medgen_c1969086_omim_611521_orphanet_331226 MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Leber congenital amaurosis 15 mondo_mondo_0013457_medgen_c3151206_omim_613843_orphanet_65 MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843,Orphanet:65 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLX4 Fanconi anemia complementation group P mondo_mondo_0013499_medgen_c3469542_omim_613951_orphanet_84 MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC20A2 Idiopathic basal ganglia calcification 1 mondo_mondo_0024538_medgen_c4551624_omim_213600_orphanet_1980 MONDO:MONDO:0024538,MedGen:C4551624,OMIM:213600,Orphanet:1980 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL4 Duane-radial ray syndrome mondo_mondo_0011812_medgen_c1623209_omim_607323_orphanet_93293_orphanet_959 MONDO:MONDO:0011812,MedGen:C1623209,OMIM:607323,Orphanet:93293,Orphanet:959 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFX5 MHC class II deficiency mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCE1 Nephrotic syndrome, type 3 mondo_mondo_0012546_medgen_c1853124_omim_610725_orphanet_656 MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX10 Peroxisome biogenesis disorder 6B mondo_mondo_0013937_medgen_c3553948_omim_614871_orphanet_44 MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2F1-AS1 Bosch-Boonstra-Schaaf optic atrophy syndrome mondo_mondo_0014320_medgen_c3810363_omim_615722_orphanet_401777 MONDO:MONDO:0014320,MedGen:C3810363,OMIM:615722,Orphanet:401777 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Thrombocythemia 2 mondo_mondo_0011173_medgen_c3275998_omim_601977 MONDO:MONDO:0011173,MedGen:C3275998,OMIM:601977 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN2 Majeed syndrome mondo_mondo_0012316_medgen_c1864997_omim_609628_orphanet_77297 MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL40 Nemaline myopathy 8 mondo_mondo_0014138_medgen_c3809209_omim_615348_orphanet_171430 MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNT1 Autosomal dominant nocturnal frontal lobe epilepsy 5 mondo_mondo_0014002_medgen_c3554306_omim_615005_orphanet_98784 MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB4 Epidermolysis bullosa, junctional 5A, intermediate mondo_mondo_0030768_medgen_c5676956_omim_619816 MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Glanzmann thrombasthenia 2 mondo_mondo_0031009_medgen_c5543273_omim_619267 MONDO:MONDO:0031009,MedGen:C5543273,OMIM:619267 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C mondo_mondo_0014212_medgen_c1854990_omim_615501_orphanet_308400_orphanet_833 MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXP3 Insulin-dependent diabetes mellitus secretory diarrhea syndrome mondo_mondo_0010580_medgen_c0342288_omim_304790_orphanet_37042 MONDO:MONDO:0010580,MedGen:C0342288,OMIM:304790,Orphanet:37042 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN Autosomal recessive limb-girdle muscular dystrophy type 2M mondo_mondo_0012699_medgen_c1969040_omim_611588_orphanet_206554 MONDO:MONDO:0012699,MedGen:C1969040,OMIM:611588,Orphanet:206554 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD1 Aarskog syndrome mondo_mondo_0010589_medgen_c0175701_omim_305400_orphanet_915 MONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400,Orphanet:915 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDX11 Warsaw breakage syndrome mondo_mondo_0013252_medgen_c3150658_omim_613398_orphanet_280558 MONDO:MONDO:0013252,MedGen:C3150658,OMIM:613398,Orphanet:280558 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis mondo_mondo_0010644_medgen_c1839874_omim_308990_orphanet_1652_orphanet_93622 MONDO:MONDO:0010644,MedGen:C1839874,OMIM:308990,Orphanet:1652,Orphanet:93622 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFH Basal laminar drusen mondo_mondo_0007472_medgen_c0730295_omim_126700_orphanet_75376 MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK5RAP2 Microcephaly 3, primary, autosomal recessive mondo_mondo_0011488_medgen_c1858108_omim_604804_orphanet_2512 MONDO:MONDO:0011488,MedGen:C1858108,OMIM:604804,Orphanet:2512 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP2 Nephrogenic diabetes insipidus human_phenotype_ontology_hp_0009806_mondo_mondo_0016383_medgen_c0162283_orphanet_223 Human_Phenotype_Ontology:HP:0009806,MONDO:MONDO:0016383,MedGen:C0162283,Orphanet:223 43 43 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS33B Arthrogryposis, renal dysfunction, and cholestasis 1 mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM231 Joubert syndrome 20 mondo_mondo_0013994_medgen_c3554235_omim_614970_orphanet_475 MONDO:MONDO:0013994,MedGen:C3554235,OMIM:614970,Orphanet:475 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence THAP1 Torsion dystonia 6 mondo_mondo_0011264_medgen_c1414216_omim_602629_orphanet_98806 MONDO:MONDO:0011264,MedGen:C1414216,OMIM:602629,Orphanet:98806 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAOK1 Developmental delay with or without intellectual impairment or behavioral abnormalities mondo_mondo_0859199_medgen_c5562004_omim_619575 MONDO:MONDO:0859199,MedGen:C5562004,OMIM:619575 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SP110 Hepatic veno-occlusive disease-immunodeficiency syndrome mondo_mondo_0009338_medgen_c1856128_omim_235550_orphanet_79124 MONDO:MONDO:0009338,MedGen:C1856128,OMIM:235550,Orphanet:79124 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A1 Congenital glucose-galactose malabsorption mondo_mondo_0011731_medgen_c0268186_omim_606824_orphanet_35710 MONDO:MONDO:0011731,MedGen:C0268186,OMIM:606824,Orphanet:35710 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC40A1 Hemochromatosis type 4 mondo_mondo_0011631_medgen_c1853733_omim_606069_orphanet_139491 MONDO:MONDO:0011631,MedGen:C1853733,OMIM:606069,Orphanet:139491 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Paramyotonia congenita of Von Eulenburg mondo_mondo_0008195_medgen_c0221055_omim_168300_orphanet_684 MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBCK1 Polyglucosan body myopathy type 1 mondo_mondo_0014389_medgen_c4014605_omim_615895_orphanet_329173_orphanet_397937 MONDO:MONDO:0014389,MedGen:C4014605,OMIM:615895,Orphanet:329173,Orphanet:397937 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 PTPN11-related disorder ptpn11_related_disorder . 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLGARF Progressive sclerosing poliodystrophy mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIEZO1 Lymphatic malformation 6 mondo_mondo_0014797_medgen_c4225184_omim_616843_orphanet_568062 MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPTN Glaucoma 1, open angle, E medgen_c1842026 MedGen:C1842026 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPHN1 X-linked intellectual disability-cerebellar hypoplasia syndrome mondo_mondo_0010337_medgen_c1845366_omim_300486_orphanet_137831 MONDO:MONDO:0010337,MedGen:C1845366,OMIM:300486,Orphanet:137831 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSD2 Rauch-Steindl syndrome mondo_mondo_0859219_medgen_c5562061_omim_619695_orphanet_659642 MONDO:MONDO:0859219,MedGen:C5562061,OMIM:619695,Orphanet:659642 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NBEA Neurodevelopmental disorder with or without early-onset generalized epilepsy mondo_mondo_0030930_medgen_c5436914_omim_619157 MONDO:MONDO:0030930,MedGen:C5436914,OMIM:619157 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NALCN Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 mondo_mondo_0024567_medgen_c3809454_omim_615419_orphanet_371364_orphanet_700336 MONDO:MONDO:0024567,MedGen:C3809454,OMIM:615419,Orphanet:371364,Orphanet:700336 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPL Primary myelofibrosis mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5B Intellectual disability, autosomal recessive 65 mondo_mondo_0020850_medgen_c4748219_omim_618109 MONDO:MONDO:0020850,MedGen:C4748219,OMIM:618109 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HNF4A Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Developmental and epileptic encephalopathy, 17 mondo_mondo_0014199_medgen_c3809606_omim_615473_orphanet_1934 MONDO:MONDO:0014199,MedGen:C3809606,OMIM:615473,Orphanet:1934 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Crouzon syndrome human_phenotype_ontology_hp_0004439_mondo_mondo_0007405_mesh_d003394_medgen_c0010273_omim_123500_orphanet_207 Human_Phenotype_Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500,Orphanet:207 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPHB4 Capillary malformation-arteriovenous malformation 2 mondo_mondo_0020785_medgen_c4748670_omim_618196_orphanet_693912 MONDO:MONDO:0020785,MedGen:C4748670,OMIM:618196,Orphanet:693912 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIAPH1 Autosomal dominant nonsyndromic hearing loss 1 mondo_mondo_0007424_medgen_c1852282_omim_124900_orphanet_90635 MONDO:MONDO:0007424,MedGen:C1852282,OMIM:124900,Orphanet:90635 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBT Maple syrup urine disease type 2 mondo_mondo_0023693_medgen_c1855371_omim_620699 MONDO:MONDO:0023693,MedGen:C1855371,OMIM:620699 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD4 Sifrim-Hitz-Weiss syndrome mondo_mondo_0014946_medgen_c4310688_omim_617159_orphanet_653712 MONDO:MONDO:0014946,MedGen:C4310688,OMIM:617159,Orphanet:653712 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8B1 Progressive familial intrahepatic cholestasis type 1 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Alternating hemiplegia of childhood 2 mondo_mondo_0013900_medgen_c3553788_omim_614820_orphanet_2131 MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Hereditary spastic paraplegia 50 mondo_mondo_0013048_medgen_c2752008_omim_612936_orphanet_280763 MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACADSB Deficiency of 2-methylbutyryl-CoA dehydrogenase human_phenotype_ontology_hp_0020147_mondo_mondo_0012392_medgen_c1864912_omim_610006_orphanet_79157 Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157 42 42 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB8 Oocyte maturation defect 2 mondo_mondo_0021573_medgen_c4225210_omim_616780 MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC21B Asphyxiating thoracic dystrophy 4 mondo_mondo_0013441_medgen_c3151185_omim_613819_orphanet_474 MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 Pierpont syndrome mondo_mondo_0011213_medgen_c1865644_omim_602342_orphanet_487825 MONDO:MONDO:0011213,MedGen:C1865644,OMIM:602342,Orphanet:487825 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Noonan syndrome 4 mondo_mondo_0012547_medgen_c1853120_omim_610733_orphanet_648 MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733,Orphanet:648 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETX Amyotrophic lateral sclerosis type 4 mondo_mondo_0011223_medgen_c1865409_omim_602433_orphanet_357043 MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNASEH2A Aicardi-Goutieres syndrome 4 mondo_mondo_0012472_medgen_c1835912_omim_610333_orphanet_51 MONDO:MONDO:0012472,MedGen:C1835912,OMIM:610333,Orphanet:51 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPO Pyridoxal phosphate-responsive seizures mondo_mondo_0012407_medgen_c1864723_omim_610090_orphanet_79096 MONDO:MONDO:0012407,MedGen:C1864723,OMIM:610090,Orphanet:79096 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 PLA2G6-associated neurodegeneration mondo_mondo_0017998_medgen_cn204472_orphanet_329303 MONDO:MONDO:0017998,MedGen:CN204472,Orphanet:329303 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHKA1 Glycogen storage disease IXd mondo_mondo_0010362_medgen_c1845151_omim_300559_orphanet_715 MONDO:MONDO:0010362,MedGen:C1845151,OMIM:300559,Orphanet:715 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX7 Rhizomelic chondrodysplasia punctata mondo_mondo_0015776_medgen_c0282529_omim_ps215100_orphanet_177 MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100,Orphanet:177 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPTN Primary open angle glaucoma mondo_mondo_0100553_medgen_c0339573_omim_137760 MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAN1B1 Rafiq syndrome mondo_mondo_0013624_medgen_c3280127_omim_614202_orphanet_88616 MONDO:MONDO:0013624,MedGen:C3280127,OMIM:614202,Orphanet:88616 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIFR Stüve-Wiedemann syndrome 1 mondo_mondo_0800043_medgen_c5676888_omim_601559_orphanet_3206 MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L2HGDH L-2-hydroxyglutaric aciduria human_phenotype_ontology_hp_0040144_mondo_mondo_0009370_medgen_c1855995_omim_236792_orphanet_79314 Human_Phenotype_Ontology:HP:0040144,MONDO:MONDO:0009370,MedGen:C1855995,OMIM:236792,Orphanet:79314 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS6 Hermansky-Pudlak syndrome 6 mondo_mondo_0013558_medgen_c3888007_omim_614075_orphanet_231512_orphanet_79430 MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 mondo_mondo_0014140_medgen_c3809216_omim_615350_orphanet_588 MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350,Orphanet:588 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Charcot-Marie-Tooth disease axonal type 2K mondo_mondo_0011916_medgen_c1842983_omim_607831_orphanet_101097_orphanet_99944 MONDO:MONDO:0011916,MedGen:C1842983,OMIM:607831,Orphanet:101097,Orphanet:99944 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GANAB Polycystic kidney disease 3 with or without polycystic liver disease mondo_mondo_0010916_medgen_c3887964_omim_600666 MONDO:MONDO:0010916,MedGen:C3887964,OMIM:600666 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECHS1 Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency mondo_mondo_0014563_medgen_c4225391_omim_616277_orphanet_255241_orphanet_653880 MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277,Orphanet:255241,Orphanet:653880 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCX Lissencephaly type 1 due to doublecortin gene mutation mondo_mondo_0010239_medgen_c4551968_omim_300067_orphanet_2148 MONDO:MONDO:0010239,MedGen:C4551968,OMIM:300067,Orphanet:2148 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCLRE1C Athabaskan severe combined immunodeficiency medgen_c1865371 MedGen:C1865371 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF3R Autosomal recessive severe congenital neutropenia due to CSF3R deficiency mondo_mondo_0014865_medgen_c4310764_omim_617014_orphanet_420702 MONDO:MONDO:0014865,MedGen:C4310764,OMIM:617014,Orphanet:420702 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNG Lethal multiple pterygium syndrome mondo_mondo_0009668_medgen_c1854678_omim_253290_orphanet_33108 MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP83 Nephronophthisis 18 mondo_mondo_0014374_medgen_c3890591_omim_615862_orphanet_655 MONDO:MONDO:0014374,MedGen:C3890591,OMIM:615862,Orphanet:655 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD46 Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AQP2 Diabetes insipidus, nephrogenic, autosomal mondo_mondo_0007451_medgen_c1563706_omim_125800_orphanet_223 MONDO:MONDO:0007451,MedGen:C1563706,OMIM:125800,Orphanet:223 41 41 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP9X Intellectual disability, X-linked 99, syndromic, female-restricted mondo_mondo_0010502_medgen_c4225416_omim_300968 MONDO:MONDO:0010502,MedGen:C4225416,OMIM:300968 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Retinitis pigmentosa 76 mondo_mondo_0014929_medgen_c4310704_omim_617123 MONDO:MONDO:0014929,MedGen:C4310704,OMIM:617123 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNRC6B Global developmental delay with speech and behavioral abnormalities mondo_mondo_0030995_medgen_c5543226_omim_619243 MONDO:MONDO:0030995,MedGen:C5543226,OMIM:619243 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Hypertrophic cardiomyopathy 2 mondo_mondo_0007266_medgen_c1861864_omim_115195 MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Dilated cardiomyopathy 1D mondo_mondo_0011095_medgen_c1832243_omim_601494_orphanet_154_orphanet_54260 MONDO:MONDO:0011095,MedGen:C1832243,OMIM:601494,Orphanet:154,Orphanet:54260 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAB2 Congenital heart defects, multiple types, 2 mondo_mondo_0014000_medgen_c3554279_omim_614980 MONDO:MONDO:0014000,MedGen:C3554279,OMIM:614980 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SALL1 Townes syndrome mondo_mondo_0007142_mesh_c536974_medgen_c0265246_omim_ps107480_orphanet_857 MONDO:MONDO:0007142,MeSH:C536974,MedGen:C0265246,OMIM:PS107480,Orphanet:857 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAD21 Cornelia de Lange syndrome 4 mondo_mondo_0013864_medgen_c3553517_omim_614701_orphanet_199 MONDO:MONDO:0013864,MedGen:C3553517,OMIM:614701,Orphanet:199 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP1 Warburg micro syndrome 1 mondo_mondo_0010822_medgen_c1838625_omim_600118_orphanet_2510 MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1C Hypomyelinating leukodystrophy 11 mondo_mondo_0014666_medgen_c4225305_omim_616494_orphanet_88637 MONDO:MONDO:0014666,MedGen:C4225305,OMIM:616494,Orphanet:88637 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHYH Phytanic acid storage disease mondo_mondo_0009958_medgen_c0034960_omim_266500_orphanet_773 MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGM1 PGM1-congenital disorder of glycosylation mondo_mondo_0013968_medgen_c2752015_omim_614921_orphanet_319646 MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5DC1 Metaphyseal chondrodysplasia, Schmid type mondo_mondo_0007983_medgen_c0265289_omim_156500_orphanet_174 MONDO:MONDO:0007983,MedGen:C0265289,OMIM:156500,Orphanet:174 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFAF5 Mitochondrial complex I deficiency mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss mondo_mondo_0015912_medgen_c5200934_omim_155100_orphanet_182050 MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MME Charcot-Marie-Tooth disease axonal type 2T mondo_mondo_0014866_medgen_c4015635_omim_617017_orphanet_443950 MONDO:MONDO:0014866,MedGen:C4015635,OMIM:617017,Orphanet:443950 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KMT5B Intellectual disability, autosomal dominant 51 mondo_mondo_0030917_medgen_c4540474_omim_617788_orphanet_684226 MONDO:MONDO:0030917,MedGen:C4540474,OMIM:617788,Orphanet:684226 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Focal segmental glomerulosclerosis 5 mondo_mondo_0013191_medgen_c2750475_omim_613237_orphanet_656 MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYS1 Glycogen storage disease due to muscle and heart glycogen synthase deficiency mondo_mondo_0012693_medgen_c1969054_omim_611556_orphanet_137625 MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNPAT Rhizomelic chondrodysplasia punctata type 2 mondo_mondo_0009112_medgen_c1857242_omim_222765_orphanet_177_orphanet_309796 MONDO:MONDO:0009112,MedGen:C1857242,OMIM:222765,Orphanet:177,Orphanet:309796 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome mondo_mondo_0014369_medgen_c4014479_omim_615849_orphanet_420584 MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKTN Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 mondo_mondo_0013156_medgen_c2751052_omim_613152 MONDO:MONDO:0013156,MedGen:C2751052,OMIM:613152 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FA2H Hereditary spastic paraplegia 35 mondo_mondo_0012866_medgen_c3496228_omim_612319_orphanet_171629 MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319,Orphanet:171629 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFNB1 Craniofrontonasal syndrome mondo_mondo_0010570_medgen_c0220767_omim_304110_orphanet_1520 MONDO:MONDO:0010570,MedGen:C0220767,OMIM:304110,Orphanet:1520 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF2 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL10A1 Metaphyseal chondrodysplasia, Schmid type mondo_mondo_0007983_medgen_c0265289_omim_156500_orphanet_174 MONDO:MONDO:0007983,MedGen:C0265289,OMIM:156500,Orphanet:174 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFH Hemolytic uremic syndrome, atypical, susceptibility to, 1 mondo_mondo_0009335_medgen_c2749604_omim_235400_orphanet_2134_orphanet_90038 MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BAG3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMT Glycine encephalopathy 1 mondo_mondo_0958179_medgen_cn376801_omim_605899 MONDO:MONDO:0958179,MedGen:CN376801,OMIM:605899 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG12 ALG12-congenital disorder of glycosylation mondo_mondo_0011783_medgen_c2931001_omim_607143_orphanet_79324 MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324 40 40 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VSX2 Isolated microphthalmia 2 mondo_mondo_0012409_medgen_c1864720_omim_610093_orphanet_2542 MONDO:MONDO:0012409,MedGen:C1864720,OMIM:610093,Orphanet:2542 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Retinitis pigmentosa 51 mondo_mondo_0013274_medgen_c3150715_omim_613464_orphanet_791 MONDO:MONDO:0013274,MedGen:C3150715,OMIM:613464,Orphanet:791 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRDN Catecholaminergic polymorphic ventricular tachycardia 1 mondo_mondo_0011484_medgen_c1631597_omim_604772_orphanet_3286 MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPP1 Autosomal recessive spinocerebellar ataxia 7 mondo_mondo_0012235_medgen_c1836474_omim_609270_orphanet_284324 MONDO:MONDO:0012235,MedGen:C1836474,OMIM:609270,Orphanet:284324 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TFAP2A Branchiooculofacial syndrome mondo_mondo_0007235_mesh_d019280_medgen_c0376524_omim_113620_orphanet_1297 MONDO:MONDO:0007235,MeSH:D019280,MedGen:C0376524,OMIM:113620,Orphanet:1297 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 Paget disease of bone 2, early-onset mondo_mondo_0011183_medgen_c4085251_omim_602080 MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SQSTM1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 mondo_mondo_0007105_medgen_c5779877_omim_105550_orphanet_275872 MONDO:MONDO:0007105,MedGen:C5779877,OMIM:105550,Orphanet:275872 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTAN1 Developmental and epileptic encephalopathy, 5 mondo_mondo_0013277_medgen_c3150731_omim_613477_orphanet_3451 MONDO:MONDO:0013277,MedGen:C3150731,OMIM:613477,Orphanet:3451 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 Familial hemophagocytic lymphohistiocytosis mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGQ Epilepsy mondo_mondo_0005027_mesh_d004827_medgen_c0014544 MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOGL Autosomal recessive nonsyndromic hearing loss 84B mondo_mondo_0013984_medgen_c3554159_omim_614944_orphanet_90636 MONDO:MONDO:0013984,MedGen:C3554159,OMIM:614944,Orphanet:90636 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPLAH 5-Oxoprolinase deficiency human_phenotype_ontology_hp_0040142_mondo_mondo_0009825_medgen_c0268525_omim_260005_orphanet_33572 Human_Phenotype_Ontology:HP:0040142,MONDO:MONDO:0009825,MedGen:C0268525,OMIM:260005,Orphanet:33572 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MID1 X-linked Opitz G/BBB syndrome mondo_mondo_0010222_medgen_c2936904_omim_300000_orphanet_2745 MONDO:MONDO:0010222,MedGen:C2936904,OMIM:300000,Orphanet:2745 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEGF8 MEGF8-related Carpenter syndrome mondo_mondo_0013998_medgen_c3554247_omim_614976_orphanet_65759 MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYS2 Glycogen storage disorder due to hepatic glycogen synthase deficiency mondo_mondo_0009414_medgen_c1855861_omim_240600_orphanet_2089 MONDO:MONDO:0009414,MedGen:C1855861,OMIM:240600,Orphanet:2089 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR2 Pfeiffer syndrome mondo_mondo_0007043_medgen_c0220658_omim_101600_orphanet_710 MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCF Fanconi anemia complementation group F mondo_mondo_0011325_medgen_c3469526_omim_603467_orphanet_84 MONDO:MONDO:0011325,MedGen:C3469526,OMIM:603467,Orphanet:84 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2OS Fanconi anemia complementation group D2 mondo_mondo_0009214_medgen_c3160738_omim_227646_orphanet_84 MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F13A1 Factor XIII, A subunit, deficiency of human_phenotype_ontology_hp_0040233_mondo_mondo_0013187_medgen_c2750514_omim_613225_orphanet_331 Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Dilated cardiomyopathy 1J mondo_mondo_0011541_medgen_c1854368_omim_605362_orphanet_217622 MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362,Orphanet:217622 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ESCO2 Juberg-Hayward syndrome mondo_mondo_0008992_medgen_c0796099_omim_216100_orphanet_2319 MONDO:MONDO:0008992,MedGen:C0796099,OMIM:216100,Orphanet:2319 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CP Hermansky-Pudlak syndrome 3 mondo_mondo_0013555_medgen_c3888001_omim_614072_orphanet_231512_orphanet_79430 MONDO:MONDO:0013555,MedGen:C3888001,OMIM:614072,Orphanet:231512,Orphanet:79430 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCNKB Bartter disease type 4B mondo_mondo_0000909_medgen_c4310805_omim_613090_orphanet_112 MONDO:MONDO:0000909,MedGen:C4310805,OMIM:613090,Orphanet:112 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 X-linked recessive nephrolithiasis with renal failure mondo_mondo_0010687_medgen_c0403720_omim_310468_orphanet_1652_orphanet_93622 MONDO:MONDO:0010687,MedGen:C0403720,OMIM:310468,Orphanet:1652,Orphanet:93622 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARHGEF9 Developmental and epileptic encephalopathy, 8 mondo_mondo_0010375_medgen_c1845102_omim_300607_orphanet_163985_orphanet_2076 MONDO:MONDO:0010375,MedGen:C1845102,OMIM:300607,Orphanet:163985,Orphanet:2076 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD2 Pontocerebellar hypoplasia type 9 mondo_mondo_0014351_medgen_c4014354_omim_615809_orphanet_369920 MONDO:MONDO:0014351,MedGen:C4014354,OMIM:615809,Orphanet:369920 39 39 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 Crigler-Najjar syndrome type 1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB4A Hypomyelinating leukodystrophy 6 mondo_mondo_0012905_medgen_c2676244_omim_612438_orphanet_139441 MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRAPPC9 Intellectual disability, autosomal recessive 13 mondo_mondo_0013173_medgen_c2750791_omim_613192_orphanet_88616 MONDO:MONDO:0013173,MedGen:C2750791,OMIM:613192,Orphanet:88616 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Cardiomyopathy, familial restrictive, 3 mondo_mondo_0012900_medgen_c2676271_omim_612422_orphanet_75249 MONDO:MONDO:0012900,MedGen:C2676271,OMIM:612422,Orphanet:75249 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC6 Epidermodysplasia verruciformis mondo_mondo_0009176_medgen_c0014522_orphanet_302 MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBL1XR1 Intellectual disability, autosomal dominant 41 mondo_mondo_0014842_medgen_c4310784_omim_616944_orphanet_2823 MONDO:MONDO:0014842,MedGen:C4310784,OMIM:616944,Orphanet:2823 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC Autosomal recessive nonsyndromic hearing loss 16 mondo_mondo_0011364_medgen_c1863561_omim_603720_orphanet_90636 MONDO:MONDO:0011364,MedGen:C1863561,OMIM:603720,Orphanet:90636 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPATA22 Canavan Disease, Familial Form medgen_c0751663 MedGen:C0751663 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Hypokalemic periodic paralysis, type 2 mondo_mondo_0013234_medgen_c2750061_omim_613345_orphanet_681 MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 Retinitis pigmentosa 2 mondo_mondo_0010723_medgen_c2681923_omim_312600_orphanet_791 MONDO:MONDO:0010723,MedGen:C2681923,OMIM:312600,Orphanet:791 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROR2 Autosomal recessive Robinow syndrome mondo_mondo_0009999_medgen_c5399974_omim_268310_orphanet_1507_orphanet_97360 MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU4F3 Autosomal dominant nonsyndromic hearing loss 15 mondo_mondo_0011226_medgen_c1865366_omim_602459_orphanet_90635 MONDO:MONDO:0011226,MedGen:C1865366,OMIM:602459,Orphanet:90635 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA2 Neutral lipid storage myopathy mondo_mondo_0012545_medgen_c1853136_omim_610717_orphanet_98908 MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Megalencephaly-capillary malformation-polymicrogyria syndrome mondo_mondo_0011240_medgen_c1865285_omim_602501_orphanet_60040 MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX13 Peroxisome biogenesis disorder 11A (Zellweger) mondo_mondo_0013949_medgen_c3554000_omim_614883_orphanet_912 MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883,Orphanet:912 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAGA Alpha-N-acetylgalactosaminidase deficiency type 1 mondo_mondo_0012221_medgen_c1836544_omim_609241_orphanet_3137_orphanet_79279_orphanet_79281 MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241,Orphanet:3137,Orphanet:79279,Orphanet:79281 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAGT1 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia mondo_mondo_0010455_medgen_c3275445_omim_300853_orphanet_317476 MONDO:MONDO:0010455,MedGen:C3275445,OMIM:300853,Orphanet:317476 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARP7 Microcephalic primordial dwarfism, Alazami type mondo_mondo_0014031_medgen_c3554439_omim_615071_orphanet_319671 MONDO:MONDO:0014031,MedGen:C3554439,OMIM:615071,Orphanet:319671 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B3 Testosterone 17-beta-dehydrogenase deficiency mondo_mondo_0009916_medgen_c0268296_omim_264300_orphanet_752 MONDO:MONDO:0009916,MedGen:C0268296,OMIM:264300,Orphanet:752 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPS5 Hermansky-Pudlak syndrome 5 mondo_mondo_0013557_medgen_c3888004_omim_614074_orphanet_231512_orphanet_79430 MONDO:MONDO:0013557,MedGen:C3888004,OMIM:614074,Orphanet:231512,Orphanet:79430 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIVEP2 Intellectual disability, autosomal dominant 43 mondo_mondo_0014858_medgen_c4707429_omim_616977 MONDO:MONDO:0014858,MedGen:C4707429,OMIM:616977 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GMPPB Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 mondo_mondo_0014141_medgen_c3809221_omim_615351 MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GFPT1 Congenital myasthenic syndrome 12 mondo_mondo_0012518_medgen_c3552335_omim_610542_orphanet_353327_orphanet_590 MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTCD Glutamate formiminotransferase deficiency mondo_mondo_0009240_medgen_c0268609_omim_229100_orphanet_51208 MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM1 BNAR syndrome mondo_mondo_0012165_medgen_c2750433_omim_608980_orphanet_217266 MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGD4 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FAM20A Amelogenesis imperfecta type 1G mondo_mondo_0008771_medgen_c2931783_omim_204690_orphanet_1031_orphanet_171836 MONDO:MONDO:0008771,MedGen:C2931783,OMIM:204690,Orphanet:1031,Orphanet:171836 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F7 Factor VII deficiency mondo_mondo_0002244_mesh_d005168_medgen_c0015503 MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EFEMP2 Cutis laxa, autosomal recessive, type 1B mondo_mondo_0013754_medgen_c3280798_omim_614437_orphanet_90349 MONDO:MONDO:0013754,MedGen:C3280798,OMIM:614437,Orphanet:90349 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUX1 Global developmental delay with or without impaired intellectual development mondo_mondo_0032680_medgen_c5193032_omim_618330 MONDO:MONDO:0032680,MedGen:C5193032,OMIM:618330 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL27A1 Steel syndrome mondo_mondo_0014061_medgen_c3554594_omim_615155_orphanet_438117 MONDO:MONDO:0014061,MedGen:C3554594,OMIM:615155,Orphanet:438117 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN5 Hypophosphatemic rickets, X-linked recessive mondo_mondo_0010358_medgen_c1845168_omim_300554_orphanet_1652_orphanet_93622 MONDO:MONDO:0010358,MedGen:C1845168,OMIM:300554,Orphanet:1652,Orphanet:93622 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIC Intellectual disability, autosomal dominant 45 mondo_mondo_0030910_medgen_c4539848_omim_617600 MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHKB Megaconial type congenital muscular dystrophy mondo_mondo_0011246_medgen_c1865233_omim_602541_orphanet_280671 MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C3 Complement component 3 deficiency mondo_mondo_0013417_medgen_c3151071_omim_613779_orphanet_280133 MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779,Orphanet:280133 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASPA Canavan Disease, Familial Form medgen_c0751663 MedGen:C0751663 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACP5 Spondyloenchondrodysplasia with immune dysregulation mondo_mondo_0011939_medgen_c1842763_omim_607944_orphanet_1855 MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944,Orphanet:1855 38 38 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XDH Hereditary xanthinuria type 1 mondo_mondo_0010209_medgen_c0268118_omim_278300_orphanet_3467_orphanet_93601 MONDO:MONDO:0010209,MedGen:C0268118,OMIM:278300,Orphanet:3467,Orphanet:93601 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3B Oculocerebrofacial syndrome, Kaufman type mondo_mondo_0009485_medgen_c1855663_omim_244450_orphanet_2707 MONDO:MONDO:0009485,MedGen:C1855663,OMIM:244450,Orphanet:2707 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB2B Complex cortical dysplasia with other brain malformations 7 mondo_mondo_0012399_medgen_c3552236_omim_610031_orphanet_300573 MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Charcot-Marie-Tooth disease axonal type 2C mondo_mondo_0011633_medgen_c1853710_omim_606071_orphanet_99937 MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC8 Epidermodysplasia verruciformis mondo_mondo_0009176_medgen_c0014522_orphanet_302 MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMC1A Developmental and epileptic encephalopathy, 85, with or without midline brain defects mondo_mondo_0026771_medgen_c5393312_omim_301044 MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD6 Radioulnar synostosis human_phenotype_ontology_hp_0002974_human_phenotype_ontology_hp_0003962_mondo_mondo_0017985_medgen_c0158761_orphanet_3269 Human_Phenotype_Ontology:HP:0002974,Human_Phenotype_Ontology:HP:0003962,MONDO:MONDO:0017985,MedGen:C0158761,Orphanet:3269 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A2 Familial renal glucosuria mondo_mondo_0009297_medgen_c3245525_omim_233100_orphanet_69076 MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH2D1A X-linked lymphoproliferative disease due to SH2D1A deficiency mondo_mondo_0024551_medgen_c5399825_omim_308240_orphanet_2442_orphanet_538931 MONDO:MONDO:0024551,MedGen:C5399825,OMIM:308240,Orphanet:2442,Orphanet:538931 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCD Autosomal recessive limb-girdle muscular dystrophy type 2F mondo_mondo_0011028_medgen_c1832525_omim_601287_orphanet_219 MONDO:MONDO:0011028,MedGen:C1832525,OMIM:601287,Orphanet:219 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPN11 Noonan syndrome and Noonan-related syndrome mondo_mondo_0020297_medgen_c5681679_orphanet_98733 MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROS1 Thrombophilia due to protein S deficiency, autosomal dominant mondo_mondo_0012868_medgen_c3278211_omim_612336_orphanet_26349_orphanet_743 MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHB Pyruvate dehydrogenase E1-beta deficiency mondo_mondo_0013580_medgen_c3279841_omim_614111_orphanet_255138_orphanet_765 MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111,Orphanet:255138,Orphanet:765 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUS1 Congenital disorder of glycosylation, type IAA mondo_mondo_0014904_medgen_c4310727_omim_617082 MONDO:MONDO:0014904,MedGen:C4310727,OMIM:617082 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR0B1 46,XY sex reversal 2 mondo_mondo_0010226_medgen_c1848296_omim_300018 MONDO:MONDO:0010226,MedGen:C1848296,OMIM:300018 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP1 Senior-Loken syndrome 1 mondo_mondo_0009962_medgen_c4551559_omim_266900_orphanet_3156 MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphanet:3156 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Cryopyrin associated periodic syndrome mondo_mondo_0016168_medgen_c2316212_orphanet_208650 MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCOS Xanthinuria type II mondo_mondo_0011346_medgen_c1863688_omim_603592_orphanet_3467_orphanet_93602 MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Late-infantile neuronal ceroid lipofuscinosis mondo_mondo_0015674_medgen_c0022340 MONDO:MONDO:0015674,MedGen:C0022340 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAT1A Hepatic methionine adenosyltransferase deficiency mondo_mondo_0009607_mesh_c564683_medgen_c0268621_omim_250850_orphanet_168598 MONDO:MONDO:0009607,MeSH:C564683,MedGen:C0268621,OMIM:250850,Orphanet:168598 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP4 Cenani-Lenz syndactyly syndrome mondo_mondo_0008931_medgen_c1859309_omim_212780_orphanet_3258 MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD Tyrosinemia type III mondo_mondo_0010162_medgen_c0268623_omim_276710_orphanet_69723 MONDO:MONDO:0010162,MedGen:C0268623,OMIM:276710,Orphanet:69723 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB1 Intellectual disability, autosomal dominant 42 mondo_mondo_0014855_medgen_c4310774_omim_616973_orphanet_488613 MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA3 Cataract 14 multiple types mondo_mondo_0011162_medgen_c1866078_omim_601885_orphanet_91492 MONDO:MONDO:0011162,MedGen:C1866078,OMIM:601885,Orphanet:91492 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRRS1L Developmental and epileptic encephalopathy, 37 mondo_mondo_0014859_medgen_c4310770_omim_616981 MONDO:MONDO:0014859,MedGen:C4310770,OMIM:616981 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM1 Oculotrichoanal syndrome mondo_mondo_0009560_medgen_c1855425_omim_248450_orphanet_2717 MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAAF11 Primary ciliary dyskinesia 19 mondo_mondo_0013979_medgen_c3543826_omim_614935_orphanet_244 MONDO:MONDO:0013979,MedGen:C3543826,OMIM:614935,Orphanet:244 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTN2 Epilepsy, familial adult myoclonic, 5 mondo_mondo_0014167_medgen_c3809374_omim_615400_orphanet_86814 MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLPB 3-methylglutaconic aciduria, type VIIB mondo_mondo_0014561_medgen_c5676893_omim_616271_orphanet_445038 MONDO:MONDO:0014561,MedGen:C5676893,OMIM:616271,Orphanet:445038 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCN6 Progressive pseudorheumatoid dysplasia mondo_mondo_0008827_medgen_c0432215_omim_208230_orphanet_1159 MONDO:MONDO:0008827,MedGen:C0432215,OMIM:208230,Orphanet:1159 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC40 Primary ciliary dyskinesia 15 mondo_mondo_0013435_medgen_c3151137_omim_613808_orphanet_244 MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS5 Bardet-Biedl syndrome 5 mondo_mondo_0014434_medgen_c3892039_omim_615983_orphanet_110 MONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983,Orphanet:110 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Bardet-Biedl syndrome 3 mondo_mondo_0010832_medgen_c1859564_omim_600151_orphanet_110 MONDO:MONDO:0010832,MedGen:C1859564,OMIM:600151,Orphanet:110 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO10 Autosomal recessive spinocerebellar ataxia 10 mondo_mondo_0013392_medgen_c3150998_omim_613728_orphanet_284289 MONDO:MONDO:0013392,MedGen:C3150998,OMIM:613728,Orphanet:284289 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD4 Methylmalonic acidemia with homocystinuria, type cblJ mondo_mondo_0013925_medgen_c3553915_omim_614857_orphanet_369955 MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955 37 37 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC2 Holoprosencephaly 5 mondo_mondo_0012322_medgen_c1864827_omim_609637_orphanet_2162 MONDO:MONDO:0012322,MedGen:C1864827,OMIM:609637,Orphanet:2162 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR72 Amelogenesis imperfecta hypomaturation type 2A3 mondo_mondo_0013181_medgen_c2750771_omim_613211_orphanet_88661 MONDO:MONDO:0013181,MedGen:C2750771,OMIM:613211,Orphanet:88661 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR26 Skraban-Deardorff syndrome mondo_mondo_0054636_medgen_c4539927_omim_617616_orphanet_513456 MONDO:MONDO:0054636,MedGen:C4539927,OMIM:617616,Orphanet:513456 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM237 Joubert syndrome 14 mondo_mondo_0013745_medgen_c3280766_omim_614424 MONDO:MONDO:0013745,MedGen:C3280766,OMIM:614424 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUFU Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A11 Corneal dystrophy, Fuchs endothelial, 4 mondo_mondo_0013204_medgen_c2750450_omim_613268_orphanet_98974 MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268,Orphanet:98974 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKN Autosomal recessive juvenile Parkinson disease 2 mondo_mondo_0010820_medgen_c1868675_omim_600116_orphanet_2828 MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNP Purine-nucleoside phosphorylase deficiency mondo_mondo_0013171_medgen_c0268125_omim_613179_orphanet_760 MONDO:MONDO:0013171,MedGen:C0268125,OMIM:613179,Orphanet:760 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Immunodeficiency 36 with lymphoproliferation mondo_mondo_0014453_medgen_c4014934_omim_616005_orphanet_397596_orphanet_693681 MONDO:MONDO:0014453,MedGen:C4014934,OMIM:616005,Orphanet:397596,Orphanet:693681 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP3 Familial cold autoinflammatory syndrome 1 mondo_mondo_0007349_medgen_c4551895_omim_120100_orphanet_47045 MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHLRC1 Lafora disease mondo_mondo_0009697_medgen_c0751783_omim_ps254780_orphanet_501 MONDO:MONDO:0009697,MedGen:C0751783,OMIM:PS254780,Orphanet:501 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYCN Feingold syndrome type 1 mondo_mondo_0008115_medgen_c4551774_omim_164280_orphanet_1305_orphanet_391641 MONDO:MONDO:0008115,MedGen:C4551774,OMIM:164280,Orphanet:1305,Orphanet:391641 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOGS MOGS-congenital disorder of glycosylation mondo_mondo_0011629_medgen_c1853736_omim_606056_orphanet_79330 MONDO:MONDO:0011629,MedGen:C1853736,OMIM:606056,Orphanet:79330 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED17 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly mondo_mondo_0013351_medgen_c3150921_omim_613668_orphanet_402364 MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668,Orphanet:402364 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ4 Autosomal dominant nonsyndromic hearing loss 2A mondo_mondo_0010817_medgen_c2677637_omim_600101_orphanet_90635 MONDO:MONDO:0010817,MedGen:C2677637,OMIM:600101,Orphanet:90635 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IGF1R Growth delay due to insulin-like growth factor I resistance mondo_mondo_0010038_medgen_c1849157_omim_270450_orphanet_73273 MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYG1 Polyglucosan body myopathy type 2 mondo_mondo_0014526_medgen_c4015452_omim_616199_orphanet_456369 MONDO:MONDO:0014526,MedGen:C4015452,OMIM:616199,Orphanet:456369 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRA1 Hyperekplexia 1 mondo_mondo_0007868_medgen_c4551954_omim_149400_orphanet_3197 MONDO:MONDO:0007868,MedGen:C4551954,OMIM:149400,Orphanet:3197 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI2 Holoprosencephaly 9 mondo_mondo_0012563_medgen_c1835819_omim_610829_orphanet_2162 MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUS Amyotrophic lateral sclerosis type 6 mondo_mondo_0011951_medgen_c2931786_omim_608030_orphanet_275872_orphanet_803 MONDO:MONDO:0011951,MedGen:C2931786,OMIM:608030,Orphanet:275872,Orphanet:803 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFB Multiple acyl-CoA dehydrogenase deficiency mondo_mondo_0009282_medgen_c0268596_omim_231680_orphanet_26791 MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 Hypophosphatemic rickets, autosomal recessive, 2 mondo_mondo_0013219_medgen_c2750078_omim_613312_orphanet_289176 MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DSPP Dentinogenesis imperfecta type 2 mondo_mondo_0007441_medgen_c2973527_omim_125490_orphanet_166260 MONDO:MONDO:0007441,MedGen:C2973527,OMIM:125490,Orphanet:166260 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL1 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures mondo_mondo_0032877_medgen_c5231470_omim_618709 MONDO:MONDO:0032877,MedGen:C5231470,OMIM:618709 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYBA Chronic granulomatous disease mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRPPA Autosomal recessive limb-girdle muscular dystrophy type 2U mondo_mondo_0014474_medgen_c5190987_omim_616052_orphanet_352479 MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Usher syndrome type 3A mondo_mondo_0010170_medgen_c5779850_omim_276902 MONDO:MONDO:0010170,MedGen:C5779850,OMIM:276902 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDCA7L Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLTP1 Alkuraya-Kucinskas syndrome mondo_mondo_0060631_medgen_c4693347_omim_617822_orphanet_610569 MONDO:MONDO:0060631,MedGen:C4693347,OMIM:617822,Orphanet:610569 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BCL11B Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities mondo_mondo_0060763_medgen_c4748152_omim_618092_orphanet_662829 MONDO:MONDO:0060763,MedGen:C4748152,OMIM:618092,Orphanet:662829 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AXDND1 Nephrotic syndrome, type 2 mondo_mondo_0010974_medgen_c1868672_omim_600995_orphanet_656 MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL6 Retinitis pigmentosa 55 mondo_mondo_0013312_medgen_c3150808_omim_613575_orphanet_791 MONDO:MONDO:0013312,MedGen:C3150808,OMIM:613575,Orphanet:791 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG8 Polycystic liver disease 3 with or without kidney cysts mondo_mondo_0054743_medgen_c4693472_omim_617874 MONDO:MONDO:0054743,MedGen:C4693472,OMIM:617874 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABAT Gamma-aminobutyric acid transaminase deficiency mondo_mondo_0013166_medgen_c0342708_omim_613163_orphanet_2066 MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066 36 36 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF142 Neurodevelopmental disorder with impaired speech and hyperkinetic movements mondo_mondo_0032741_medgen_c5193088_omim_618425 MONDO:MONDO:0032741,MedGen:C5193088,OMIM:618425 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 mondo_mondo_0013546_medgen_c3279699_omim_614052_orphanet_1194 MONDO:MONDO:0013546,MedGen:C3279699,OMIM:614052,Orphanet:1194 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Autosomal recessive nonsyndromic hearing loss 21 mondo_mondo_0011351_medgen_c1863655_omim_603629_orphanet_90636 MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN1 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRY 46,XY sex reversal 1 mondo_mondo_0020712_medgen_c2748896_omim_400044_orphanet_242 MONDO:MONDO:0020712,MedGen:C2748896,OMIM:400044,Orphanet:242 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A2 Brown-Vialetto-van Laere syndrome 2 mondo_mondo_0013867_medgen_c3553538_omim_614707_orphanet_572550_orphanet_97229 MONDO:MONDO:0013867,MedGen:C3553538,OMIM:614707,Orphanet:572550,Orphanet:97229 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL11 Diamond-Blackfan anemia human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis 1 mondo_mondo_0020790_medgen_c4551964_omim_607313_orphanet_2744 MONDO:MONDO:0020790,MedGen:C4551964,OMIM:607313,Orphanet:2744 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRMT7 Short stature-brachydactyly-obesity-global developmental delay syndrome mondo_mondo_0014944_medgen_c4310689_omim_617157_orphanet_464288 MONDO:MONDO:0014944,MedGen:C4310689,OMIM:617157,Orphanet:464288 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis mondo_mondo_0008726_medgen_c3150099_omim_201750_orphanet_63269 MONDO:MONDO:0008726,MedGen:C3150099,OMIM:201750,Orphanet:63269 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF6 Borjeson-Forssman-Lehmann syndrome mondo_mondo_0010537_medgen_c0265339_omim_301900_orphanet_127 MONDO:MONDO:0010537,MedGen:C0265339,OMIM:301900,Orphanet:127 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6B Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAPSS2 Spondyloepimetaphyseal dysplasia, PAPSS2 type mondo_mondo_0019666_medgen_c2748516_omim_612847_orphanet_93282 MONDO:MONDO:0019666,MedGen:C2748516,OMIM:612847,Orphanet:93282 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OPA3 3-Methylglutaconic aciduria type 3 mondo_mondo_0009787_medgen_c0574084_omim_258501_orphanet_67047 MONDO:MONDO:0009787,MedGen:C0574084,OMIM:258501,Orphanet:67047 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR3C2 Autosomal dominant pseudohypoaldosteronism type 1 mondo_mondo_0008329_medgen_c1449842_omim_177735_orphanet_171871_orphanet_756 MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPL Hyperlipidemia, familial combined, LPL related human_phenotype_ontology_hp_0008158_mondo_mondo_0007759_medgen_c0020474_omim_144250 Human_Phenotype_Ontology:HP:0008158,MONDO:MONDO:0007759,MedGen:C0020474,OMIM:144250 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IBA57 Multiple mitochondrial dysfunctions syndrome 3 mondo_mondo_0014132_medgen_c3809165_omim_615330_orphanet_363424 MONDO:MONDO:0014132,MedGen:C3809165,OMIM:615330,Orphanet:363424 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HIBCH 3-hydroxyisobutyryl-CoA hydrolase deficiency human_phenotype_ontology_hp_6000215_mondo_mondo_0009603_medgen_c0342738_omim_250620_orphanet_88639 Human_Phenotype_Ontology:HP:6000215,MONDO:MONDO:0009603,MedGen:C0342738,OMIM:250620,Orphanet:88639 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HFE Hereditary hemochromatosis mondo_mondo_0006507_medgen_c0392514_omim_ps235200 MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GYG1 Glycogen storage disease XV mondo_mondo_0013291_medgen_c3150754_omim_613507_orphanet_263297 MONDO:MONDO:0013291,MedGen:C3150754,OMIM:613507,Orphanet:263297 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALNT3 Tumoral calcinosis, hyperphosphatemic, familial, 1 mondo_mondo_0100252_medgen_c4692564_omim_211900_orphanet_53715 MONDO:MONDO:0100252,MedGen:C4692564,OMIM:211900,Orphanet:53715 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Epilepsy, idiopathic generalized, susceptibility to, 13 mondo_mondo_0012627_medgen_c4013473_omim_611136_orphanet_307_orphanet_64280 MONDO:MONDO:0012627,MedGen:C4013473,OMIM:611136,Orphanet:307,Orphanet:64280 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH9 Ciliary dyskinesia, primary, 40 mondo_mondo_0032664_medgen_c4749028_omim_618300 MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE Atypical hemolytic-uremic syndrome mondo_mondo_0016244_medgen_c2931788_orphanet_2134 MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DBT Maple syrup urine disease type 1A mondo_mondo_0023691_medgen_c1855369_omim_248600 MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 CYP1B1-related glaucoma with or without anterior segment dysgenesis mondo_mondo_0800472_medgen_cn375931 MONDO:MONDO:0800472,MedGen:CN375931 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL4B X-linked intellectual disability Cabezas type gene_114890_mondo_mondo_0010306_medgen_c1845861_omim_300354_orphanet_85289_orphanet_85293 Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354,Orphanet:85289,Orphanet:85293 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 Retinitis pigmentosa 49 mondo_mondo_0013405_medgen_c3151059_omim_613756_orphanet_791 MONDO:MONDO:0013405,MedGen:C3151059,OMIM:613756,Orphanet:791 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP152 Microcephaly 9, primary, autosomal recessive mondo_mondo_0013923_medgen_c3553886_omim_614852_orphanet_2512 MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD36 Platelet-type bleeding disorder 10 mondo_mondo_0012031_medgen_c1842090_omim_608404 MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Congenital myasthenic syndrome 4C mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 35 35 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF469 Brittle cornea syndrome 1 mondo_mondo_0024543_medgen_c0268344_omim_229200_orphanet_90354 MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 Gilbert syndrome mondo_mondo_0007745_medgen_c0017551_omim_143500 MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC7A Gastrointestinal defects and immunodeficiency syndrome 1 mondo_mondo_0800030_medgen_c5968858_omim_243150_orphanet_436252 MONDO:MONDO:0800030,MedGen:C5968858,OMIM:243150,Orphanet:436252 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPM1 Congenital stationary night blindness 1C mondo_mondo_0013183_medgen_c2750747_omim_613216_orphanet_215 MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN1 Developmental delay, impaired speech, and behavioral abnormalities mondo_mondo_0859178_medgen_c5561957_omim_619475 MONDO:MONDO:0859178,MedGen:C5561957,OMIM:619475 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC3 Trichohepatoenteric syndrome 1 mondo_mondo_0024541_medgen_c4551982_omim_222470_orphanet_84064 MONDO:MONDO:0024541,MedGen:C4551982,OMIM:222470,Orphanet:84064 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RIT1 Noonan syndrome 8 mondo_mondo_0014143_medgen_c3809233_omim_615355_orphanet_648 MONDO:MONDO:0014143,MedGen:C3809233,OMIM:615355,Orphanet:648 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RHO Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Hirschsprung disease, susceptibility to, 1 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome mondo_mondo_0008828_medgen_c1859690_omim_208250_orphanet_2848 MONDO:MONDO:0008828,MedGen:C1859690,OMIM:208250,Orphanet:2848 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRF1 Lymphoma, non-Hodgkin, familial mondo_mondo_0011508_medgen_c4721532_omim_605027 MONDO:MONDO:0011508,MedGen:C4721532,OMIM:605027 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PORCN Focal dermal hypoplasia mondo_mondo_0010592_medgen_c0016395_omim_305600_orphanet_2092 MONDO:MONDO:0010592,MedGen:C0016395,OMIM:305600,Orphanet:2092 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP1 Intellectual disability, autosomal recessive 42 mondo_mondo_0014348_medgen_c4014343_omim_615802_orphanet_88616 MONDO:MONDO:0014348,MedGen:C4014343,OMIM:615802,Orphanet:88616 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX16 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCARE Retinitis pigmentosa 54 mondo_mondo_0013263_medgen_c3150691_omim_613428_orphanet_791 MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR4A2 Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism mondo_mondo_0859257_medgen_c5677001_omim_619911_orphanet_660017 MONDO:MONDO:0859257,MedGen:C5677001,OMIM:619911,Orphanet:660017 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFKB1 Immunodeficiency, common variable, 12 mondo_mondo_0014697_medgen_c4225277_omim_616576_orphanet_1572_orphanet_696874 MONDO:MONDO:0014697,MedGen:C4225277,OMIM:616576,Orphanet:1572,Orphanet:696874 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEFL Charcot-Marie-Tooth disease type 2E mondo_mondo_0011894_medgen_c1843225_omim_607684_orphanet_99939 MONDO:MONDO:0011894,MedGen:C1843225,OMIM:607684,Orphanet:99939 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2 mondo_mondo_0014085_medgen_c3554691_omim_615219_orphanet_2185 MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC56 Costello syndrome mondo_mondo_0009026_medgen_c0587248_omim_218040_orphanet_3071 MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Exudative vitreoretinopathy 4 mondo_mondo_0011151_medgen_c1866176_omim_601813_orphanet_891 MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orphanet:891 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNA1 Episodic ataxia type 1 mondo_mondo_0008047_medgen_c1719788_omim_160120_orphanet_37612_orphanet_972 MONDO:MONDO:0008047,MedGen:C1719788,OMIM:160120,Orphanet:37612,Orphanet:972 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HRAS Costello syndrome mondo_mondo_0009026_medgen_c0587248_omim_218040_orphanet_3071 MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HMGCL Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency mondo_mondo_0012173_medgen_c3711645_omim_609016_orphanet_5 MONDO:MONDO:0012173,MedGen:C3711645,OMIM:609016,Orphanet:5 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRIA2 Neurodevelopmental disorder with language impairment and behavioral abnormalities mondo_mondo_0030060_medgen_c5394502_omim_618917 MONDO:MONDO:0030060,MedGen:C5394502,OMIM:618917 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC3 Wilms tumor 1 mondo_mondo_0008679_medgen_cn033288_omim_194070_orphanet_654 MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLMN Glomuvenous malformation mondo_mondo_0007672_medgen_c1841984_omim_138000_orphanet_83454 MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F2 Congenital prothrombin deficiency mondo_mondo_0013361_medgen_c0272317_omim_613679_orphanet_325 MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA1 Branchiootic syndrome 1 mondo_mondo_0011258_medgen_c1865143_omim_602588 MONDO:MONDO:0011258,MedGen:C1865143,OMIM:602588 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EIF2B5 Leukoencephalopathy with vanishing white matter 5 mondo_mondo_0957873_medgen_c5779973_omim_620315 MONDO:MONDO:0957873,MedGen:C5779973,OMIM:620315 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK6 Adams-Oliver syndrome 2 mondo_mondo_0013635_medgen_c3280182_omim_614219_orphanet_974 MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHDDS Retinitis pigmentosa 59 mondo_mondo_0013468_medgen_c3151227_omim_613861_orphanet_791 MONDO:MONDO:0013468,MedGen:C3151227,OMIM:613861,Orphanet:791 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ4 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome mondo_mondo_0014562_medgen_c5568562_omim_616276_orphanet_457185 MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRND Lethal multiple pterygium syndrome mondo_mondo_0009668_medgen_c1854678_omim_253290_orphanet_33108 MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC88C Hydrocephalus, nonsyndromic, autosomal recessive 1 mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ2 Catecholaminergic polymorphic ventricular tachycardia 2 mondo_mondo_0012762_medgen_c2677794_omim_611938_orphanet_3286 MONDO:MONDO:0012762,MedGen:C2677794,OMIM:611938,Orphanet:3286 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRWD3 Intellectual disability, X-linked 93 mondo_mondo_0010393_medgen_c1970841_omim_300659 MONDO:MONDO:0010393,MedGen:C1970841,OMIM:300659 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARL13B Joubert syndrome 8 mondo_mondo_0012855_medgen_c2676771_omim_612291_orphanet_475 MONDO:MONDO:0012855,MedGen:C2676771,OMIM:612291,Orphanet:475 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKS6 Nephronophthisis 16 mondo_mondo_0014158_medgen_c3809320_omim_615382_orphanet_655 MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD17 Chopra-Amiel-Gordon syndrome mondo_mondo_0859186_medgen_c5561975_omim_619504 MONDO:MONDO:0859186,MedGen:C5561975,OMIM:619504 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 Cutis laxa, autosomal dominant 3 mondo_mondo_0014706_medgen_c4225268_omim_616603_orphanet_90348 MONDO:MONDO:0014706,MedGen:C4225268,OMIM:616603,Orphanet:90348 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE Renal tubular dysgenesis of genetic origin mondo_mondo_0009970_medgen_c5681536_omim_267430_orphanet_97369 MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369 34 34 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZIC3 Heterotaxy, visceral, 1, X-linked mondo_mondo_0010607_medgen_c1844020_omim_306955_orphanet_450 MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955,Orphanet:450 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 Joubert syndrome 2 mondo_mondo_0011963_medgen_c1842577_omim_608091_orphanet_2318 MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091,Orphanet:2318 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 Joubert syndrome 24 mondo_mondo_0014724_medgen_c4084841_omim_616654_orphanet_475 MONDO:MONDO:0014724,MedGen:C4084841,OMIM:616654,Orphanet:475 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX1 DiGeorge syndrome mondo_mondo_0008564_medgen_c0012236_omim_188400_orphanet_567 MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400,Orphanet:567 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD2 Luscan-Lumish syndrome mondo_mondo_0014791_medgen_c4085873_omim_616831_orphanet_597738 MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Recombinase activating gene 2 deficiency mondo_mondo_0000573_medgen_cn257931 MONDO:MONDO:0000573,MedGen:CN257931 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRC Immunodeficiency 104 mondo_mondo_0012163_medgen_c5676890_omim_608971 MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPM1D Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold mondo_mondo_0044318_medgen_c4479517_omim_617450_orphanet_653767 MONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450,Orphanet:653767 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PNPLA1 Autosomal recessive congenital ichthyosis 10 mondo_mondo_0014011_medgen_c3554355_omim_615024_orphanet_79394 MONDO:MONDO:0014011,MedGen:C3554355,OMIM:615024,Orphanet:79394 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3R1 Agammaglobulinemia 7, autosomal recessive mondo_mondo_0014083_medgen_c3554689_omim_615214 MONDO:MONDO:0014083,MedGen:C3554689,OMIM:615214 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD3 Primary ciliary dyskinesia 30 mondo_mondo_0014465_medgen_c4015016_omim_616037_orphanet_244 MONDO:MONDO:0014465,MedGen:C4015016,OMIM:616037,Orphanet:244 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS4 Mitochondrial complex I deficiency, nuclear type 1 mondo_mondo_0100224_medgen_cn257533_omim_252010 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR2 Charcot-Marie-Tooth disease type 4B1 mondo_mondo_0011066_medgen_c1832399_omim_601382_orphanet_99955 MONDO:MONDO:0011066,MedGen:C1832399,OMIM:601382,Orphanet:99955 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MERTK Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ3 Benign neonatal seizures mondo_mondo_0016027_medgen_c0220669_omim_ps121200_orphanet_1949 MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRF6 Van der Woude syndrome 1 mondo_mondo_0007333_medgen_c4551864_omim_119300 MONDO:MONDO:0007333,MedGen:C4551864,OMIM:119300 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IRAK4 Immunodeficiency 67 mondo_mondo_0011888_medgen_c1843256_omim_607676_orphanet_70592 MONDO:MONDO:0011888,MedGen:C1843256,OMIM:607676,Orphanet:70592 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFIH1 Aicardi-Goutieres syndrome 7 mondo_mondo_0014367_medgen_c3888244_omim_615846_orphanet_51 MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPHN Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATM Arginine:glycine amidinotransferase deficiency mondo_mondo_0012996_medgen_c2675179_omim_612718_orphanet_35704 MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC4 Cockayne syndrome mondo_mondo_0016006_medgen_c0009207_orphanet_191 MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNMT3B Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency mondo_mondo_0000133_medgen_c0398788_omim_ps242860_orphanet_2268 MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COMP Multiple epiphyseal dysplasia type 1 mondo_mondo_0007561_medgen_c1838280_omim_132400_orphanet_93308 MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD11 BENTA disease mondo_mondo_0014645_medgen_c4551967_omim_616452_orphanet_464336 MONDO:MONDO:0014645,MedGen:C4551967,OMIM:616452,Orphanet:464336 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A2 Migraine, familial hemiplegic, 2 mondo_mondo_0011232_medgen_c1865322_omim_602481_orphanet_569 MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANTXR2 Hyaline fibromatosis syndrome mondo_mondo_0009229_medgen_c5574677_omim_228600_orphanet_2028_orphanet_498474 MONDO:MONDO:0009229,MedGen:C5574677,OMIM:228600,Orphanet:2028,Orphanet:498474 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMT Glycine encephalopathy 2 mondo_mondo_0958192_medgen_c5830559_omim_620398 MONDO:MONDO:0958192,MedGen:C5830559,OMIM:620398 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG3 ALG3-congenital disorder of glycosylation mondo_mondo_0010998_medgen_c1832736_omim_601110_orphanet_79321 MONDO:MONDO:0010998,MedGen:C1832736,OMIM:601110,Orphanet:79321 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AICDA Hyper-IgM syndrome type 2 mondo_mondo_0011528_medgen_c1720956_omim_605258_orphanet_101089 MONDO:MONDO:0011528,MedGen:C1720956,OMIM:605258,Orphanet:101089 33 33 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 Nephrotic syndrome, type 4 mondo_mondo_0009733_medgen_c3151568_omim_256370_orphanet_656 MONDO:MONDO:0009733,MedGen:C3151568,OMIM:256370,Orphanet:656 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDPCP Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13D Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome mondo_mondo_0011811_medgen_c1846492_omim_607317_orphanet_95434 MONDO:MONDO:0011811,MedGen:C1846492,OMIM:607317,Orphanet:95434 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS1 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy mondo_mondo_0060621_medgen_c4540493_omim_617802 MONDO:MONDO:0060621,MedGen:C4540493,OMIM:617802 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USH1G Usher syndrome type 1G mondo_mondo_0011748_medgen_c1847089_omim_606943_orphanet_231169_orphanet_886 MONDO:MONDO:0011748,MedGen:C1847089,OMIM:606943,Orphanet:231169,Orphanet:886 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Susceptibility to mononeuropathy of the median nerve, mild mondo_mondo_0013237_medgen_c3150596_omim_613353 MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SERPINF1 Osteogenesis imperfecta type 6 mondo_mondo_0013515_medgen_c3279564_omim_613982_orphanet_666 MONDO:MONDO:0013515,MedGen:C3279564,OMIM:613982,Orphanet:666 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC63 Polycystic liver disease 2 mondo_mondo_0014860_medgen_c4310769_omim_617004_orphanet_2924 MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Mitochondrial DNA depletion syndrome 1 mondo_mondo_0011283_medgen_c4551995_omim_603041_orphanet_298 MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Potassium-aggravated myotonia mondo_mondo_0018959_medgen_c2931826_omim_608390_orphanet_612_orphanet_99734_orphanet_99735_orphanet_99736 MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Congenital myasthenic syndrome 16 mondo_mondo_0013620_medgen_c3280112_omim_614198_orphanet_590 MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH12 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1 mondo_mondo_0024553_medgen_c4551958_omim_600462_orphanet_2598 MONDO:MONDO:0024553,MedGen:C4551958,OMIM:600462,Orphanet:2598 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU3F3 Snijders blok-fisher syndrome mondo_mondo_0032830_medgen_c5231424_omim_618604_orphanet_656135 MONDO:MONDO:0032830,MedGen:C5231424,OMIM:618604,Orphanet:656135 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3B Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism mondo_mondo_0013722_medgen_c3280644_omim_614381_orphanet_85186_orphanet_88637 MONDO:MONDO:0013722,MedGen:C3280644,OMIM:614381,Orphanet:85186,Orphanet:88637 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NGLY1 Congenital disorder of deglycosylation 1 mondo_mondo_0800044_medgen_cn306977_omim_615273_orphanet_404454 MONDO:MONDO:0800044,MedGen:CN306977,OMIM:615273,Orphanet:404454 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHX3 Non-acquired combined pituitary hormone deficiency with spine abnormalities mondo_mondo_0009091_medgen_c3489787_omim_221750_orphanet_231720 MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750,Orphanet:231720 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI1 Autosomal dominant epilepsy with auditory features mondo_mondo_0010898_medgen_c1838062_orphanet_101046 MONDO:MONDO:0010898,MedGen:C1838062,Orphanet:101046 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDB3 Myofibrillar myopathy 4 mondo_mondo_0012277_medgen_c4721886_omim_609452_orphanet_98912 MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIRREL2 Finnish congenital nephrotic syndrome mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JUP Naxos disease mondo_mondo_0011017_medgen_c1832600_omim_601214_orphanet_34217 MONDO:MONDO:0011017,MedGen:C1832600,OMIM:601214,Orphanet:34217 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INF2 Charcot-Marie-Tooth disease dominant intermediate E mondo_mondo_0013758_medgen_c4302667_omim_614455_orphanet_93114 MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPD Hawkinsinuria human_phenotype_ontology_hp_0034457_mondo_mondo_0007700_medgen_c2931042_omim_140350_orphanet_2118 Human_Phenotype_Ontology:HP:0034457,MONDO:MONDO:0007700,MedGen:C2931042,OMIM:140350,Orphanet:2118 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBE1 Adult polyglucosan body disease mondo_mondo_0009897_medgen_c1849722_omim_263570_orphanet_206583 MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB3 Developmental and epileptic encephalopathy, 43 mondo_mondo_0014921_medgen_c4310712_omim_617113 MONDO:MONDO:0014921,MedGen:C4310712,OMIM:617113 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCF Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP7B1 Hereditary spastic paraplegia 5A mondo_mondo_0010047_medgen_c1849115_omim_270800_orphanet_100986 MONDO:MONDO:0010047,MedGen:C1849115,OMIM:270800,Orphanet:100986 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP1B1 Primary congenital glaucoma human_phenotype_ontology_hp_0008007_mondo_mondo_0000365_medgen_c1533041 Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B2 Corticosterone methyloxidase type 2 deficiency mondo_mondo_0012524_medgen_c3463917_omim_610600_orphanet_427 MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CUL3 Neurodevelopmental disorder with or without autism or seizures mondo_mondo_0030994_medgen_c5543225_omim_619239 MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLRN1 Usher syndrome type 3 mondo_mondo_0016485_medgen_c1568248_orphanet_231183 MONDO:MONDO:0016485,MedGen:C1568248,Orphanet:231183 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLN6 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) mondo_mondo_0008768_medgen_c5561927_omim_204300_orphanet_700477 MONDO:MONDO:0008768,MedGen:C5561927,OMIM:204300,Orphanet:700477 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN7 Autosomal recessive osteopetrosis 4 mondo_mondo_0012676_medgen_c1969106_omim_611490_orphanet_667 MONDO:MONDO:0012676,MedGen:C1969106,OMIM:611490,Orphanet:667 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD11 Severe combined immunodeficiency due to CARD11 deficiency mondo_mondo_0014081_medgen_c3554686_omim_615206_orphanet_357237 MONDO:MONDO:0014081,MedGen:C3554686,OMIM:615206,Orphanet:357237 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATRX Intellectual disability-hypotonic facies syndrome, X-linked, 1 mondo_mondo_0010663_medgen_c4759781_omim_309580_orphanet_73220_orphanet_93970_orphanet_93971_orphanet_93972_orphanet_93973_orphanet_93974_orphanet_93975 MONDO:MONDO:0010663,MedGen:C4759781,OMIM:309580,Orphanet:73220,Orphanet:93970,Orphanet:93971,Orphanet:93972,Orphanet:93973,Orphanet:93974,Orphanet:93975 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP8A2 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 mondo_mondo_0014104_medgen_c3808977_omim_615268_orphanet_1766 MONDO:MONDO:0014104,MedGen:C3808977,OMIM:615268,Orphanet:1766 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP6V0A2 Cutis laxa with osteodystrophy mondo_mondo_0018163_medgen_c0268355_omim_219200_orphanet_357058 MONDO:MONDO:0018163,MedGen:C0268355,OMIM:219200,Orphanet:357058 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARFGEF1 Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures mondo_mondo_0859263_medgen_c5575272_omim_619964 MONDO:MONDO:0859263,MedGen:C5575272,OMIM:619964 32 32 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZAP70 Combined immunodeficiency due to ZAP70 deficiency mondo_mondo_0010023_medgen_c2931299_omim_269840_orphanet_911 MONDO:MONDO:0010023,MedGen:C2931299,OMIM:269840,Orphanet:911 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF13B Immunodeficiency, common variable, 2 mondo_mondo_0009413_medgen_c3150354_omim_240500_orphanet_1572 MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBCD Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome mondo_mondo_0044646_medgen_c5567454_omim_617193_orphanet_496641 MONDO:MONDO:0044646,MedGen:C5567454,OMIM:617193,Orphanet:496641 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT2 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection mondo_mondo_0014715_medgen_c4225260_omim_616636_orphanet_431166 MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636,Orphanet:431166 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Floating-Harbor syndrome mondo_mondo_0007621_medgen_c0729582_omim_136140_orphanet_2044 MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SOS1 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PGAP3 Hyperphosphatasia with intellectual disability syndrome 4 mondo_mondo_0014318_medgen_c3810354_omim_615716_orphanet_247262 MONDO:MONDO:0014318,MedGen:C3810354,OMIM:615716,Orphanet:247262 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OCRL Dent disease type 2 mondo_mondo_0010359_medgen_c1845167_omim_300555_orphanet_1652_orphanet_93623 MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555,Orphanet:1652,Orphanet:93623 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NHEJ1 Cernunnos-XLF deficiency mondo_mondo_0012650_medgen_c1969799_omim_611291_orphanet_169079 MONDO:MONDO:0012650,MedGen:C1969799,OMIM:611291,Orphanet:169079 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDP Atrophia bulborum hereditaria human_phenotype_ontology_hp_6000262_mondo_mondo_0010691_medgen_c0266526_omim_310600_orphanet_649 Human_Phenotype_Ontology:HP:6000262,MONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600,Orphanet:649 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR2 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAX Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPB1 Charcot-Marie-Tooth disease axonal type 2F mondo_mondo_0011687_medgen_c1847823_omim_606595_orphanet_99940 MONDO:MONDO:0011687,MedGen:C1847823,OMIM:606595,Orphanet:99940 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPR143 Ocular albinism, type I mondo_mondo_0021019_medgen_c0342684_omim_300500_orphanet_54 MONDO:MONDO:0021019,MedGen:C0342684,OMIM:300500,Orphanet:54 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNRHR Hypogonadotropic hypogonadism 7 with or without anosmia mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Idiopathic generalized epilepsy mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Epilepsy, childhood absence 4 medgen_c1970160_orphanet_307 MedGen:C1970160,Orphanet:307 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Spondylocarpotarsal synostosis syndrome mondo_mondo_0010094_medgen_c1848934_omim_272460_orphanet_3275 MONDO:MONDO:0010094,MedGen:C1848934,OMIM:272460,Orphanet:3275 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYM Dyggve-Melchior-Clausen syndrome mondo_mondo_0009130_medgen_c0265286_omim_223800_orphanet_239 MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800,Orphanet:239 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mondo_mondo_0009636_medgen_cn074093_omim_251880_orphanet_279934 MONDO:MONDO:0009636,MedGen:CN074093,OMIM:251880,Orphanet:279934 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B2 Corticosterone 18-monooxygenase deficiency mondo_mondo_0008751_medgen_c0268293_omim_203400_orphanet_427 MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN4 Intellectual disability, X-linked 49 mondo_mondo_0010250_medgen_c0796221_omim_300114_orphanet_485350_orphanet_777 MONDO:MONDO:0010250,MedGen:C0796221,OMIM:300114,Orphanet:485350,Orphanet:777 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP104 Joubert syndrome 25 mondo_mondo_0014770_medgen_c4084842_omim_616781_orphanet_475 MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C17ORF107 Congenital myasthenic syndrome 4B mondo_mondo_0014586_medgen_c4225369_omim_616324_orphanet_590 MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Congenital generalized lipodystrophy type 2 mondo_mondo_0010020_medgen_c1720863_omim_269700_orphanet_528_orphanet_696289 MONDO:MONDO:0010020,MedGen:C1720863,OMIM:269700,Orphanet:528,Orphanet:696289 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP2A2 Keratosis follicularis mondo_mondo_0007417_medgen_c0022595_omim_124200_orphanet_218 MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200,Orphanet:218 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 de Barsy syndrome mondo_mondo_0017569_medgen_c0268354_orphanet_2962 MONDO:MONDO:0017569,MedGen:C0268354,Orphanet:2962 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH18A1 Autosomal dominant spastic paraplegia type 9 mondo_mondo_0015091_medgen_c1832669 MONDO:MONDO:0015091,MedGen:C1832669 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC2 ABCC2-related disorder abcc2_related_disorder . 31 31 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPAN1 Muscular dystrophy-dystroglycanopathy mondo_mondo_0018276_medgen_c5679911_orphanet_370953 MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNX14 Autosomal recessive spinocerebellar ataxia 20 mondo_mondo_0014601_medgen_c5190595_omim_616354_orphanet_397709 MONDO:MONDO:0014601,MedGen:C5190595,OMIM:616354,Orphanet:397709 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIL1 Marinesco-Sjögren syndrome mondo_mondo_0009567_medgen_c0024814_omim_248800_orphanet_559 MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SH3TC2 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SF3B4 Nager syndrome mondo_mondo_0007943_medgen_c0265245_omim_154400_orphanet_245 MONDO:MONDO:0007943,MedGen:C0265245,OMIM:154400,Orphanet:245 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETD1A Neurodevelopmental disorder with speech impairment and dysmorphic facies mondo_mondo_0033630_medgen_c5436699_omim_619056 MONDO:MONDO:0033630,MedGen:C5436699,OMIM:619056 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Shwachman-Diamond syndrome 1 mondo_mondo_0044204_medgen_c4692625_omim_260400 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNF43 Sessile serrated polyposis cancer syndrome mondo_mondo_0014919_medgen_c4310714_omim_617108_orphanet_157798 MONDO:MONDO:0014919,MedGen:C4310714,OMIM:617108,Orphanet:157798 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMND1 Combined oxidative phosphorylation defect type 11 mondo_mondo_0013969_medgen_c5190991_omim_614922_orphanet_324535 MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922,Orphanet:324535 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RDH5 Pigmentary retinal dystrophy human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG1 Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS7 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature mondo_mondo_0032687_medgen_c5193039_omim_618342 MONDO:MONDO:0032687,MedGen:C5193039,OMIM:618342 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAT1 Neu-Laxova syndrome 2 mondo_mondo_0014466_medgen_c4015019_omim_616038_orphanet_2671_orphanet_583602 MONDO:MONDO:0014466,MedGen:C4015019,OMIM:616038,Orphanet:2671,Orphanet:583602 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PITX2 Anterior segment dysgenesis 4 mondo_mondo_0007662_medgen_c1842031_omim_137600_orphanet_91483 MONDO:MONDO:0007662,MedGen:C1842031,OMIM:137600,Orphanet:91483 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NUS1 Intellectual disability, autosomal dominant 55, with seizures mondo_mondo_0030921_medgen_c4693371_omim_617831 MONDO:MONDO:0030921,MedGen:C4693371,OMIM:617831 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH1 Aortic valve disease 1 mondo_mondo_0024523_medgen_c3887892_omim_109730 MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO18B Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome mondo_mondo_0014689_medgen_c4225285_omim_616549_orphanet_447974 MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED13 Intellectual developmental disorder 61 mondo_mondo_0032485_medgen_c5231400_omim_618009 MONDO:MONDO:0032485,MedGen:C5231400,OMIM:618009 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAX Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARGE1 Muscular dystrophy-dystroglycanopathy type B6 mondo_mondo_0012138_medgen_c1837229_omim_608840 MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM MASA syndrome mondo_mondo_0010559_medgen_c0795953_omim_303350_orphanet_2466 MONDO:MONDO:0010559,MedGen:C0795953,OMIM:303350,Orphanet:2466 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL41 Nemaline myopathy 9 mondo_mondo_0014326_medgen_c3810384_omim_615731 MONDO:MONDO:0014326,MedGen:C3810384,OMIM:615731 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNAO1 Neurodevelopmental disorder with involuntary movements mondo_mondo_0060491_medgen_c4479569_omim_617493 MONDO:MONDO:0060491,MedGen:C4479569,OMIM:617493 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXC2 Distichiasis-lymphedema syndrome mondo_mondo_0007922_medgen_c0265345_omim_153400_orphanet_33001 MONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400,Orphanet:33001 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERMT1 Kindler syndrome mondo_mondo_0008260_medgen_c0406557_omim_173650_orphanet_2908_orphanet_306539 MONDO:MONDO:0008260,MedGen:C0406557,OMIM:173650,Orphanet:2908,Orphanet:306539 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FA2H Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC8 UV-sensitive syndrome 2 mondo_mondo_0013829_medgen_c3553298_omim_614621_orphanet_178338 MONDO:MONDO:0013829,MedGen:C3553298,OMIM:614621,Orphanet:178338 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2LI1 Sitosterolemia mondo_mondo_0008863_medgen_c0342907_omim_ps210250_orphanet_2882 MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DOCK2 DOCK2 deficiency mondo_mondo_0014637_medgen_c4225328_omim_616433_orphanet_447737 MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAI2 Primary ciliary dyskinesia 9 mondo_mondo_0012906_medgen_c2676235_omim_612444_orphanet_244 MONDO:MONDO:0012906,MedGen:C2676235,OMIM:612444,Orphanet:244 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD2 Hereditary spastic paraplegia 54 mondo_mondo_0014018_medgen_c3539495_omim_615033_orphanet_320380 MONDO:MONDO:0014018,MedGen:C3539495,OMIM:615033,Orphanet:320380 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP2U1 Hereditary spastic paraplegia 56 mondo_mondo_0014015_medgen_c3539507_omim_615030_orphanet_320411 MONDO:MONDO:0014015,MedGen:C3539507,OMIM:615030,Orphanet:320411 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11B1 Congenital adrenal hyperplasia human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP11A1 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency mondo_mondo_0013400_medgen_c3151055_omim_613743_orphanet_168558 MONDO:MONDO:0013400,MedGen:C3151055,OMIM:613743,Orphanet:168558 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHAMP1 Intellectual disability, autosomal dominant 40 mondo_mondo_0014699_medgen_c5676894_omim_616579_orphanet_692193 MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579,Orphanet:692193 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CENPF Stromme syndrome mondo_mondo_0009477_medgen_c1855705_omim_243605_orphanet_444069_orphanet_506307 MONDO:MONDO:0009477,MedGen:C1855705,OMIM:243605,Orphanet:444069,Orphanet:506307 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDKN2A Melanoma and neural system tumor syndrome mondo_mondo_0007967_medgen_c1835042_omim_155755_orphanet_252206 MONDO:MONDO:0007967,MedGen:C1835042,OMIM:155755,Orphanet:252206 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASK Intellectual disability, CASK-related, X-linked intellectual_disability_cask_related_x_linked MedGen:CN043158 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSCL2 Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPAT2 Congenital generalized lipodystrophy type 1 mondo_mondo_0012071_medgen_c1720862_omim_608594_orphanet_528_orphanet_696189 MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594,Orphanet:528,Orphanet:696189 30 30 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZC4H2 Wieacker-Wolff syndrome gene_4183_mondo_mondo_0010758_medgen_c0796200_omim_314580_orphanet_3454_orphanet_85283 Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580,Orphanet:3454,Orphanet:85283 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence YY1 Gabriele de Vries syndrome mondo_mondo_0044738_medgen_c4479652_omim_617557_orphanet_506358 MONDO:MONDO:0044738,MedGen:C4479652,OMIM:617557,Orphanet:506358 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WASHC5 Hereditary spastic paraplegia 8 mondo_mondo_0011339_medgen_c1863704_omim_603563_orphanet_100989 MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563,Orphanet:100989 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VLDLR Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 mondo_mondo_0024542_medgen_c4551552_omim_224050_orphanet_1766 MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP53 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss mondo_mondo_0030503_medgen_c5562043_omim_619658 MONDO:MONDO:0030503,MedGen:C5562043,OMIM:619658 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 Crigler-Najjar syndrome, type II mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSHR Familial hyperthyroidism due to mutations in TSH receptor mondo_mondo_0012203_medgen_c1836706_omim_609152_orphanet_424 MONDO:MONDO:0012203,MedGen:C1836706,OMIM:609152,Orphanet:424 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFRSF1A TNF receptor-associated periodic fever syndrome (TRAPS) mondo_mondo_0007727_medgen_c1275126_omim_142680_orphanet_32960 MONDO:MONDO:0007727,MedGen:C1275126,OMIM:142680,Orphanet:32960 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERC Dyskeratosis congenita, autosomal dominant 1 mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX3 Ulnar-mammary syndrome mondo_mondo_0008411_medgen_c1866994_omim_181450_orphanet_3138 MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBR1 Intellectual developmental disorder with autism and speech delay mondo_mondo_0011627_medgen_c1853755_omim_606053 MONDO:MONDO:0011627,MedGen:C1853755,OMIM:606053 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUCLG1 Mitochondrial DNA depletion syndrome 9 mondo_mondo_0009504_medgen_c3151476_omim_245400_orphanet_17 MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRRM2 Intellectual developmental disorder, autosomal dominant 72 mondo_mondo_0957397_medgen_c5830612_omim_620439_orphanet_652487 MONDO:MONDO:0957397,MedGen:C5830612,OMIM:620439,Orphanet:652487 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCC2 Coffin-Siris syndrome 8 mondo_mondo_0032702_medgen_c5193054_omim_618362 MONDO:MONDO:0032702,MedGen:C5193054,OMIM:618362 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC6A19 Neutral 1 amino acid transport defect mondo_mondo_0009324_medgen_c0018609_omim_234500_orphanet_2116 MONDO:MONDO:0009324,MedGen:C0018609,OMIM:234500,Orphanet:2116 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHAF2 Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 mondo_mondo_0011451_medgen_c5399977_omim_604377_orphanet_1561 MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SAMHD1 Aicardi Goutieres syndrome mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPL5 Diamond-Blackfan anemia 6 mondo_mondo_0012937_medgen_c2931850_omim_612561_orphanet_124 MONDO:MONDO:0012937,MedGen:C2931850,OMIM:612561,Orphanet:124 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PTPRQ Autosomal recessive nonsyndromic hearing loss 84A mondo_mondo_0013249_medgen_c3150654_omim_613391_orphanet_90636 MONDO:MONDO:0013249,MedGen:C3150654,OMIM:613391,Orphanet:90636 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6A Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NT5C2 Hereditary spastic paraplegia 45 mondo_mondo_0013165_medgen_c3888209_omim_613162_orphanet_320396 MONDO:MONDO:0013165,MedGen:C3888209,OMIM:613162,Orphanet:320396 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFV1 Mitochondrial complex I deficiency, nuclear type 4 mondo_mondo_0032609_medgen_c4748753_omim_618225 MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCAPH2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 mondo_mondo_0011451_medgen_c5399977_omim_604377_orphanet_1561 MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO3A Autosomal recessive nonsyndromic hearing loss 30 mondo_mondo_0011774_medgen_c1846784_omim_607101_orphanet_90636 MONDO:MONDO:0011774,MedGen:C1846784,OMIM:607101,Orphanet:90636 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MEIS2 Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies mondo_mondo_0010970_medgen_c1832950_omim_600987 MONDO:MONDO:0010970,MedGen:C1832950,OMIM:600987 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MED12 FG syndrome 1 mondo_mondo_0010590_medgen_c5399762_omim_305450_orphanet_93932 MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450,Orphanet:93932 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC4R BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 medgen_c4759928_omim_618406 MedGen:C4759928,OMIM:618406 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF5A Hereditary spastic paraplegia 10 mondo_mondo_0011408_medgen_c1858712_omim_604187_orphanet_100991 MONDO:MONDO:0011408,MedGen:C1858712,OMIM:604187,Orphanet:100991 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HECW2 Neurodevelopmental disorder with hypotonia, seizures, and absent language mondo_mondo_0014995_medgen_c4310643_omim_617268 MONDO:MONDO:0014995,MedGen:C4310643,OMIM:617268 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Oculodentodigital dysplasia, autosomal recessive mondo_mondo_0009768_medgen_c2749477_omim_257850_orphanet_2710 MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850,Orphanet:2710 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FYCO1 Cataract 18 mondo_mondo_0012395_medgen_c1864908_omim_610019_orphanet_91492_orphanet_98991_orphanet_98992_orphanet_98995 MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM1 Trigonocephaly 2 mondo_mondo_0013774_medgen_c3280974_omim_614485_orphanet_3366 MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 Osteogenesis imperfecta type 11 mondo_mondo_0012592_medgen_c3151218_omim_610968_orphanet_666 MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FIG4 Charcot-Marie-Tooth disease type 4J mondo_mondo_0012640_medgen_c1970011_omim_611228_orphanet_139515 MONDO:MONDO:0012640,MedGen:C1970011,OMIM:611228,Orphanet:139515 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FECH Protoporphyria, erythropoietic, 1 mondo_mondo_0008319_medgen_c4692546_omim_177000_orphanet_79278 MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Xeroderma pigmentosum, group G mondo_mondo_0010216_medgen_c0268141_omim_278780 MONDO:MONDO:0010216,MedGen:C0268141,OMIM:278780 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPM2A Progressive myoclonic epilepsy mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPM2A Lafora disease mondo_mondo_0009697_medgen_c0751783_omim_ps254780_orphanet_501 MONDO:MONDO:0009697,MedGen:C0751783,OMIM:PS254780,Orphanet:501 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ECM1 Lipid proteinosis mondo_mondo_0009530_medgen_c0023795_omim_247100_orphanet_530 MONDO:MONDO:0009530,MedGen:C0023795,OMIM:247100,Orphanet:530 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPAGT1 DPAGT1-congenital disorder of glycosylation mondo_mondo_0011964_medgen_c2931004_omim_608093_orphanet_86309 MONDO:MONDO:0011964,MedGen:C2931004,OMIM:608093,Orphanet:86309 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 mondo_mondo_0013726_medgen_c3280660_omim_614388_orphanet_330050 MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388,Orphanet:330050 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A2 Ehlers-Danlos syndrome, classic type, 1 mondo_mondo_0019567_medgen_c0268335_omim_130000 MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDAN1 Anemia, congenital dyserythropoietic, type 1a mondo_mondo_0009135_medgen_c5574667_omim_224120 MONDO:MONDO:0009135,MedGen:C5574667,OMIM:224120 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCNO Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CCDC88C Spinocerebellar ataxia type 40 mondo_mondo_0014475_medgen_c4518336_omim_616053_orphanet_423275 MONDO:MONDO:0014475,MedGen:C4518336,OMIM:616053,Orphanet:423275 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN1 Autosomal recessive spastic paraplegia type 76 mondo_mondo_0014827_medgen_c5567483_omim_616907_orphanet_488594 MONDO:MONDO:0014827,MedGen:C5567483,OMIM:616907,Orphanet:488594 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Congenital stationary night blindness 2A mondo_mondo_0010241_medgen_c1848172_omim_300071_orphanet_215 MONDO:MONDO:0010241,MedGen:C1848172,OMIM:300071,Orphanet:215 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GAT3 Larsen-like syndrome, B3GAT3 type mondo_mondo_0009511_medgen_c3278404_omim_245600_orphanet_284139 MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIP Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA2 Sneddon syndrome mondo_mondo_0008436_medgen_c0282492_omim_182410_orphanet_820 MONDO:MONDO:0008436,MedGen:C0282492,OMIM:182410,Orphanet:820 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTL6B Developmental and epileptic encephalopathy, 76 mondo_mondo_0032768_medgen_c5193113_omim_618468 MONDO:MONDO:0032768,MedGen:C5193113,OMIM:618468 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG2 Visceral myopathy 1 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Baraitser-winter syndrome 2 mondo_mondo_0013812_medgen_c3281235_omim_614583_orphanet_2995 MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995 29 29 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VDR Vitamin D-dependent rickets type II with alopecia mondo_mondo_0010186_medgen_c0342646_omim_277440_orphanet_93160 MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 mondo_mondo_0013501_medgen_c5436279_omim_613954_orphanet_275872_orphanet_803 MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBGCP6 Microcephaly and chorioretinopathy 1 mondo_mondo_0009624_medgen_c3278481_omim_251270 MONDO:MONDO:0009624,MedGen:C3278481,OMIM:251270 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TK2 Mitochondrial DNA depletion syndrome, myopathic form mondo_mondo_0012301_medgen_c3149750_omim_609560_orphanet_254875 MONDO:MONDO:0012301,MedGen:C3149750,OMIM:609560,Orphanet:254875 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TET3 Beck-Fahrner syndrome mondo_mondo_0032922_medgen_c5394097_omim_618798_orphanet_684216 MONDO:MONDO:0032922,MedGen:C5394097,OMIM:618798,Orphanet:684216 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN2 Meckel syndrome, type 8 mondo_mondo_0013482_medgen_c3836857_omim_613885_orphanet_564 MONDO:MONDO:0013482,MedGen:C3836857,OMIM:613885,Orphanet:564 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIRT4 Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language mondo_mondo_0971172_medgen_c5935628_omim_620851_orphanet_686488 MONDO:MONDO:0971172,MedGen:C5935628,OMIM:620851,Orphanet:686488 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN9A Channelopathy-associated congenital insensitivity to pain, autosomal recessive mondo_mondo_0009459_medgen_c1855739_omim_243000_orphanet_88642_orphanet_970 MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU4-2 Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language mondo_mondo_0971172_medgen_c5935628_omim_620851_orphanet_686488 MONDO:MONDO:0971172,MedGen:C5935628,OMIM:620851,Orphanet:686488 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP Metachromatic leukodystrophy mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX9 Tooth agenesis, selective, 3 mondo_mondo_0011477_medgen_c1970291_omim_604625_orphanet_99798 MONDO:MONDO:0011477,MedGen:C1970291,OMIM:604625,Orphanet:99798 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOA Autosomal recessive nonsyndromic hearing loss 22 mondo_mondo_0011762_medgen_c1846896_omim_607039_orphanet_90636 MONDO:MONDO:0011762,MedGen:C1846896,OMIM:607039,Orphanet:90636 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NIPAL4 Autosomal recessive congenital ichthyosis 6 mondo_mondo_0012847_medgen_c2677065_omim_612281_orphanet_313_orphanet_79394 MONDO:MONDO:0012847,MedGen:C2677065,OMIM:612281,Orphanet:313,Orphanet:79394 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYRF Cardiac-urogenital syndrome mondo_mondo_0032653_medgen_c4748946_omim_618280_orphanet_647811 MONDO:MONDO:0032653,MedGen:C4748946,OMIM:618280,Orphanet:647811 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCCC2 Methylcrotonyl-CoA carboxylase deficiency mondo_mondo_0018950_medgen_c4551505_omim_ps210200_orphanet_6 MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAPT Frontotemporal dementia human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP4 Sclerosteosis 2 mondo_mondo_0013679_medgen_c3280402_omim_614305_orphanet_3152 MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP4 Congenital myasthenic syndrome 17 mondo_mondo_0014578_medgen_c4225377_omim_616304_orphanet_590 MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPIN1 Myoglobinuria, acute recurrent, autosomal recessive mondo_mondo_0009992_medgen_c1849386_omim_268200_orphanet_99845 MONDO:MONDO:0009992,MedGen:C1849386,OMIM:268200,Orphanet:99845 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LHCGR Leydig cell agenesis mondo_mondo_0009384_medgen_c0266432_omim_238320 MONDO:MONDO:0009384,MedGen:C0266432,OMIM:238320 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LARS2 Perrault syndrome 4 mondo_mondo_0014126_medgen_c3809105_omim_615300_orphanet_2855 MONDO:MONDO:0014126,MedGen:C3809105,OMIM:615300,Orphanet:2855 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCTD7 Progressive myoclonic epilepsy type 3 mondo_mondo_0012721_medgen_c2673257_omim_611726_orphanet_263516 MONDO:MONDO:0012721,MedGen:C2673257,OMIM:611726,Orphanet:263516 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ2 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BB Bernard Soulier syndrome mondo_mondo_0009276_mesh_d001606_medgen_c0005129_omim_231200_orphanet_274 MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLE1 Lethal arthrogryposis-anterior horn cell disease syndrome mondo_mondo_0012750_medgen_c5193016_omim_611890_orphanet_53696 MONDO:MONDO:0012750,MedGen:C5193016,OMIM:611890,Orphanet:53696 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GJA1 Oculodentodigital dysplasia mondo_mondo_0008111_medgen_c0812437_omim_164200_orphanet_2710 MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200,Orphanet:2710 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FREM2 Isolated cryptophthalmia mondo_mondo_0007410_medgen_c1852453_omim_123570_orphanet_91396 MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC3 Xeroderma pigmentosum group B mondo_mondo_0012531_medgen_c0268136_omim_610651 MONDO:MONDO:0012531,MedGen:C0268136,OMIM:610651 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DIPK1A Diamond-Blackfan anemia 6 mondo_mondo_0012937_medgen_c2931850_omim_612561_orphanet_124 MONDO:MONDO:0012937,MedGen:C2931850,OMIM:612561,Orphanet:124 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DEAF1 Intellectual disability, autosomal dominant 24 mondo_mondo_0014357_medgen_c4014414_omim_615828 MONDO:MONDO:0014357,MedGen:C4014414,OMIM:615828 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSRP3 Hypertrophic cardiomyopathy 12 mondo_mondo_0012804_medgen_c2677491_omim_612124 MONDO:MONDO:0012804,MedGen:C2677491,OMIM:612124 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNKSR2 Intellectual disability, X-linked, syndromic, Houge type mondo_mondo_0030909_medgen_c4538788_omim_301008 MONDO:MONDO:0030909,MedGen:C4538788,OMIM:301008 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNA1 Lethal multiple pterygium syndrome mondo_mondo_0009668_medgen_c1854678_omim_253290_orphanet_33108 MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFI Atypical hemolytic-uremic syndrome with I factor anomaly mondo_mondo_0013041_medgen_c2752039_omim_612923_orphanet_2134 MONDO:MONDO:0013041,MedGen:C2752039,OMIM:612923,Orphanet:2134 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly mondo_mondo_0014577_medgen_c4225378_omim_616300_orphanet_474 MONDO:MONDO:0014577,MedGen:C4225378,OMIM:616300,Orphanet:474 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMN Imerslund-Grasbeck syndrome type 2 mondo_mondo_0100157_medgen_c4016948_omim_618882 MONDO:MONDO:0100157,MedGen:C4016948,OMIM:618882 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA2 Aortic aneurysm, familial thoracic 6 mondo_mondo_0012730_medgen_c2673186_omim_611788 MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACOX1 Mitchell syndrome mondo_mondo_0030073_medgen_c5394554_omim_618960_orphanet_631248 MONDO:MONDO:0030073,MedGen:C5394554,OMIM:618960,Orphanet:631248 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACAD8 Deficiency of isobutyryl-CoA dehydrogenase mondo_mondo_0012648_medgen_c1969809_omim_611283_orphanet_79159 MONDO:MONDO:0012648,MedGen:C1969809,OMIM:611283,Orphanet:79159 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 ABCB4-related disorder abcb4_related_disorder . 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA3 Hereditary pulmonary alveolar proteinosis mondo_mondo_0012580_medgen_c3711368_omim_ps265120_orphanet_264675 MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675 28 28 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZNF292 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 Lucey-Driscoll syndrome mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM2 Arthrogryposis, distal, type 1A mondo_mondo_0007157_medgen_c0220662_omim_108120_orphanet_1146 MONDO:MONDO:0007157,MedGen:C0220662,OMIM:108120,Orphanet:1146 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 mondo_mondo_0013878_medgen_c3553617_omim_614742_orphanet_88 MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAP1 MHC class I deficiency mondo_mondo_0011476_medgen_c1858266_omim_ps604571_orphanet_34592 MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAF1 Intellectual disability, X-linked, syndromic 33 mondo_mondo_0010500_medgen_c4225418_omim_300966_orphanet_480907 MONDO:MONDO:0010500,MedGen:C4225418,OMIM:300966,Orphanet:480907 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SUCLA2 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mondo_mondo_0012791_medgen_c5980207_omim_612073_orphanet_1933 MONDO:MONDO:0012791,MedGen:C5980207,OMIM:612073,Orphanet:1933 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STX11 Familial hemophagocytic lymphohistiocytosis 4 mondo_mondo_0011336_medgen_c1863728_omim_603552_orphanet_540 MONDO:MONDO:0011336,MedGen:C1863728,OMIM:603552,Orphanet:540 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRA6 Matthew-Wood syndrome mondo_mondo_0011010_medgen_c1832661_omim_601186_orphanet_2470 MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAT5B Growth hormone insensitivity with immune dysregulation 1, autosomal recessive mondo_mondo_0100211_medgen_c5435698_omim_245590_orphanet_220465 MONDO:MONDO:0100211,MedGen:C5435698,OMIM:245590,Orphanet:220465 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 Hypercalcemia, infantile, 2 mondo_mondo_0014851_medgen_c4310473_omim_616963_orphanet_300547 MONDO:MONDO:0014851,MedGen:C4310473,OMIM:616963,Orphanet:300547 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SET Intellectual disability, autosomal dominant 58 mondo_mondo_0020847_medgen_c4748195_omim_618106 MONDO:MONDO:0020847,MedGen:C4748195,OMIM:618106 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH3 Primary ciliary dyskinesia 32 mondo_mondo_0014657_medgen_c4225311_omim_616481_orphanet_244 MONDO:MONDO:0014657,MedGen:C4225311,OMIM:616481,Orphanet:244 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RRM2B Mitochondrial DNA depletion syndrome 8a mondo_mondo_0012792_medgen_c2749861_omim_612075_orphanet_255235 MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075,Orphanet:255235 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS19 Diamond-Blackfan anemia 1 mondo_mondo_0007110_medgen_c2676137_omim_105650_orphanet_124 MONDO:MONDO:0007110,MedGen:C2676137,OMIM:105650,Orphanet:124 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Familial medullary thyroid carcinoma mondo_mondo_0007958_medgen_c1833921_omim_155240_orphanet_653_orphanet_99361 MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240,Orphanet:653,Orphanet:99361 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Seizures, benign familial infantile, 2 mondo_mondo_0011593_medgen_c1853995_omim_605751_orphanet_306 MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751,Orphanet:306 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Retinitis pigmentosa 41 mondo_mondo_0012796_medgen_c2677516_omim_612095_orphanet_791 MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095,Orphanet:791 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPARG PPARG-related familial partial lipodystrophy mondo_mondo_0011448_medgen_c1720861_omim_604367_orphanet_79083 MONDO:MONDO:0011448,MedGen:C1720861,OMIM:604367,Orphanet:79083 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POU1F1 Pituitary hormone deficiency, combined, 1 mondo_mondo_0024464_medgen_c2751608_omim_613038 MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR1C Treacher Collins syndrome 3 mondo_mondo_0009558_medgen_c1855433_omim_248390_orphanet_861 MONDO:MONDO:0009558,MedGen:C1855433,OMIM:248390,Orphanet:861 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CD Immunodeficiency 14 mondo_mondo_0014222_medgen_c3714976_omim_615513_orphanet_397596_orphanet_693661 MONDO:MONDO:0014222,MedGen:C3714976,OMIM:615513,Orphanet:397596,Orphanet:693661 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHGDH Neu-Laxova syndrome 1 mondo_mondo_0009736_medgen_c4551478_omim_256520_orphanet_2671_orphanet_583607 MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF3 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEPD Prolidase deficiency mondo_mondo_0008221_medgen_c0268532_omim_170100_orphanet_742 MONDO:MONDO:0008221,MedGen:C0268532,OMIM:170100,Orphanet:742 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDRG1 Charcot-Marie-Tooth disease type 4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYH9 MYH9-related disorder medgen_c1854520 MedGen:C1854520 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LIAS Lipoic acid synthetase deficiency mondo_mondo_0013762_medgen_c3280887_omim_614462_orphanet_401859 MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462,Orphanet:401859 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence L1CAM L1 syndrome mondo_mondo_0017140_medgen_c5779710_orphanet_275543 MONDO:MONDO:0017140,MedGen:C5779710,Orphanet:275543 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence JUP Arrhythmogenic right ventricular dysplasia 12 mondo_mondo_0012684_medgen_c1969081_omim_611528 MONDO:MONDO:0012684,MedGen:C1969081,OMIM:611528 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HADH Deficiency of 3-hydroxyacyl-CoA dehydrogenase mondo_mondo_0017715_medgen_c1291230_omim_231530_orphanet_309127_orphanet_71212 MONDO:MONDO:0017715,MedGen:C1291230,OMIM:231530,Orphanet:309127,Orphanet:71212 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPI Hemolytic anemia due to glucophosphate isomerase deficiency mondo_mondo_0013275_medgen_c0272064_omim_613470_orphanet_712 MONDO:MONDO:0013275,MedGen:C0272064,OMIM:613470,Orphanet:712 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Charcot-Marie-Tooth disease recessive intermediate A mondo_mondo_0012014_medgen_c1842197_omim_608340_orphanet_217055 MONDO:MONDO:0012014,MedGen:C1842197,OMIM:608340,Orphanet:217055 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FUS Tremor, hereditary essential, 4 mondo_mondo_0013888_medgen_c3539195_omim_614782 MONDO:MONDO:0013888,MedGen:C3539195,OMIM:614782 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EZH2 Weaver syndrome mondo_mondo_0010193_medgen_c0265210_omim_277590_orphanet_3447 MONDO:MONDO:0010193,MedGen:C0265210,OMIM:277590,Orphanet:3447 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EYA4 Autosomal dominant nonsyndromic hearing loss 10 mondo_mondo_0011031_medgen_c1832476_omim_601316_orphanet_90635 MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316,Orphanet:90635 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC5 Cerebrooculofacioskeletal syndrome 3 mondo_mondo_0014696_medgen_c1851443_omim_616570 MONDO:MONDO:0014696,MedGen:C1851443,OMIM:616570 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2I1 Short-rib thoracic dysplasia 8 with or without polydactyly mondo_mondo_0014214_medgen_c3809691_omim_615503_orphanet_93271 MONDO:MONDO:0014214,MedGen:C3809691,OMIM:615503,Orphanet:93271 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPAGT1 Congenital myasthenic syndrome 13 mondo_mondo_0013883_medgen_c3553645_omim_614750_orphanet_353327_orphanet_590 MONDO:MONDO:0013883,MedGen:C3553645,OMIM:614750,Orphanet:353327,Orphanet:590 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGAT1 Congenital diarrhea 7 with exudative enteropathy mondo_mondo_0014375_medgen_c4014516_omim_615863_orphanet_329242 MONDO:MONDO:0014375,MedGen:C4014516,OMIM:615863,Orphanet:329242 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DDHD1 Hereditary spastic paraplegia 28 mondo_mondo_0012256_medgen_c1836295_omim_609340_orphanet_101008 MONDO:MONDO:0012256,MedGen:C1836295,OMIM:609340,Orphanet:101008 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSRP3 Dilated cardiomyopathy 1M mondo_mondo_0011840_medgen_c1843808_omim_607482_orphanet_154 MONDO:MONDO:0011840,MedGen:C1843808,OMIM:607482,Orphanet:154 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRX Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A3 Ullrich congenital muscular dystrophy 1A mondo_mondo_0009681_medgen_c0410179_omim_254090_orphanet_75840 MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A1 Ullrich congenital muscular dystrophy 1A mondo_mondo_0009681_medgen_c0410179_omim_254090_orphanet_75840 MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Knobloch syndrome mondo_mondo_0800166_medgen_c1849409_omim_ps267750_orphanet_1571 MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL17A1 Epithelial recurrent erosion dystrophy mondo_mondo_0007381_medgen_c1852551_omim_122400_orphanet_293381 MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400,Orphanet:293381 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence BICRA Coffin-Siris syndrome 12 mondo_mondo_0025699_medgen_c5444111_omim_619325 MONDO:MONDO:0025699,MedGen:C5444111,OMIM:619325 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AUH 3-methylglutaconic aciduria type 1 mondo_mondo_0009610_medgen_c0342727_omim_250950_orphanet_67046 MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950,Orphanet:67046 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4B1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Miyoshi muscular dystrophy 3 mondo_mondo_0013222_medgen_c2750076_omim_613319_orphanet_399096 MONDO:MONDO:0013222,MedGen:C2750076,OMIM:613319,Orphanet:399096 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALS2 Amyotrophic lateral sclerosis type 2, juvenile mondo_mondo_0008780_medgen_c1859807_omim_205100_orphanet_300605 MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100,Orphanet:300605 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AK2 Reticular dysgenesis mondo_mondo_0009973_medgen_c0272167_omim_267500_orphanet_33355 MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACTG1 Autosomal dominant nonsyndromic hearing loss 20 mondo_mondo_0011480_medgen_c1858172_omim_604717_orphanet_90635 MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635 27 27 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR73 Galloway-Mowat syndrome 1 mondo_mondo_0033005_medgen_c4551772_omim_251300_orphanet_2065_orphanet_83472 MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13C Autosomal recessive early-onset Parkinson disease 23 mondo_mondo_0014796_medgen_c4225186_omim_616840_orphanet_2828 MONDO:MONDO:0014796,MedGen:C4225186,OMIM:616840,Orphanet:2828 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence USP7 Hao-Fountain syndrome mondo_mondo_0014805_medgen_c5393908_orphanet_643549 MONDO:MONDO:0014805,MedGen:C5393908,Orphanet:643549 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TWNK Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 mondo_mondo_0012241_medgen_c1836439_omim_609286 MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPC6 Focal segmental glomerulosclerosis 2 mondo_mondo_0011390_medgen_c1858915_omim_603965_orphanet_656 MONDO:MONDO:0011390,MedGen:C1858915,OMIM:603965,Orphanet:656 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOR1AIP1 Autosomal recessive limb-girdle muscular dystrophy type 2Y mondo_mondo_0014900_medgen_c4511482_omim_617072_orphanet_424261 MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT1 Nemaline myopathy 5 mondo_mondo_0011539_medgen_c1854380_omim_605355_orphanet_98902 MONDO:MONDO:0011539,MedGen:C1854380,OMIM:605355,Orphanet:98902 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFB2 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TECTA Autosomal dominant nonsyndromic hearing loss 12 mondo_mondo_0011102_medgen_c1832187_omim_601543_orphanet_90635 MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Pulmonary hypertension, primary, 1 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIM1 Combined immunodeficiency due to STIM1 deficiency mondo_mondo_0013008_medgen_c2748557_omim_612783_orphanet_169090_orphanet_317430 MONDO:MONDO:0013008,MedGen:C2748557,OMIM:612783,Orphanet:169090,Orphanet:317430 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRCAP Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SNORD118 Leukoencephalopathy with calcifications and cysts mondo_mondo_0013803_medgen_c3281200_omim_614561_orphanet_542310 MONDO:MONDO:0013803,MedGen:C3281200,OMIM:614561,Orphanet:542310 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCE1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMAD9 Pulmonary hypertension, primary, 2 mondo_mondo_0014134_medgen_c3888002_omim_615342_orphanet_422 MONDO:MONDO:0014134,MedGen:C3888002,OMIM:615342,Orphanet:422 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC5A5 Thyroid dyshormonogenesis 1 mondo_mondo_0020716_medgen_c1848805_omim_274400_orphanet_95716 MONDO:MONDO:0020716,MedGen:C1848805,OMIM:274400,Orphanet:95716 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A1 Hurler syndrome mondo_mondo_0011758_medgen_c0086795_omim_607014_orphanet_93473 MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014,Orphanet:93473 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A46 Neuropathy, hereditary motor and sensory, type 6B mondo_mondo_0014671_medgen_c4225302_omim_616505 MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC19A2 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness mondo_mondo_0009575_medgen_c0342287_omim_249270_orphanet_49827 MONDO:MONDO:0009575,MedGen:C0342287,OMIM:249270,Orphanet:49827 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHOX Leri-Weill dyschondrosteosis mondo_mondo_0007481_medgen_c0265309_omim_127300_orphanet_240 MONDO:MONDO:0007481,MedGen:C0265309,OMIM:127300,Orphanet:240 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHD Hereditary pheochromocytoma and paraganglioma mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SDHAF2 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1B Brugada syndrome 5 mondo_mondo_0013015_medgen_c2748541_omim_612838_orphanet_130_orphanet_871 MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBDS Aplastic anemia human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RTTN Microcephalic primordial dwarfism due to RTTN deficiency mondo_mondo_0018764_medgen_c3553831_omim_614833_orphanet_468631 MONDO:MONDO:0018764,MedGen:C3553831,OMIM:614833,Orphanet:468631 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RORA Intellectual developmental disorder with or without epilepsy or cerebellar ataxia mondo_mondo_0060745_medgen_c4748041_omim_618060 MONDO:MONDO:0060745,MedGen:C4748041,OMIM:618060 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROM1 Cone-rod dystrophy 12 mondo_mondo_0012983_medgen_c2675210_omim_612657_orphanet_1872 MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP3CA Developmental and epileptic encephalopathy 91 mondo_mondo_0020630_medgen_c4540199_omim_617711 MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLR3A Neonatal pseudo-hydrocephalic progeroid syndrome mondo_mondo_0009910_medgen_c0406586_omim_264090_orphanet_3455 MONDO:MONDO:0009910,MedGen:C0406586,OMIM:264090,Orphanet:3455 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POLH Xeroderma pigmentosum variant type mondo_mondo_0010214_medgen_c1848410_omim_278750_orphanet_90342 MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750,Orphanet:90342 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX2 Zellweger spectrum disorders mondo_mondo_0019609_medgen_c0043459_orphanet_912 MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NR2E3 Retinitis pigmentosa 37 mondo_mondo_0012625_medgen_c1970163_omim_611131_orphanet_791 MONDO:MONDO:0012625,MedGen:C1970163,OMIM:611131,Orphanet:791 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDRG1 Charcot-Marie-Tooth disease type 4D mondo_mondo_0011085_medgen_c1832334_omim_601455_orphanet_99950 MONDO:MONDO:0011085,MedGen:C1832334,OMIM:601455,Orphanet:99950 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MFSD8 Macular dystrophy with central cone involvement mondo_mondo_0014515_medgen_c4015371_omim_616170 MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARVELD2 Autosomal recessive nonsyndromic hearing loss 49 mondo_mondo_0012420_medgen_c1857811_omim_610153_orphanet_90636 MONDO:MONDO:0012420,MedGen:C1857811,OMIM:610153,Orphanet:90636 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 Cardiofaciocutaneous syndrome 3 mondo_mondo_0014113_medgen_c3809006_omim_615279_orphanet_1340 MONDO:MONDO:0014113,MedGen:C3809006,OMIM:615279,Orphanet:1340 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP1B Periventricular nodular heterotopia 9 mondo_mondo_0030061_medgen_c5394503_omim_618918 MONDO:MONDO:0030061,MedGen:C5394503,OMIM:618918 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LGI1 Epilepsy, familial temporal lobe, 1 mondo_mondo_0700090_medgen_cn030884_omim_600512_orphanet_101046 MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF1C Spastic ataxia 2 mondo_mondo_0012651_medgen_c1969796_omim_611302_orphanet_397946 MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IKBKB Severe combined immunodeficiency due to IKK2 deficiency mondo_mondo_0014267_medgen_c4747743_omim_615592_orphanet_397787 MONDO:MONDO:0014267,MedGen:C4747743,OMIM:615592,Orphanet:397787 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Bernard-Soulier syndrome, type A2, autosomal dominant mondo_mondo_0007930_medgen_c3277076_omim_153670_orphanet_274 MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOXE3 Congenital primary aphakia mondo_mondo_0012456_medgen_c1853230_omim_610256_orphanet_83461 MONDO:MONDO:0012456,MedGen:C1853230,OMIM:610256,Orphanet:83461 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETFA Glutaric acidemia type 2A glutaric_acidemia_type_2a . 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DUOXA2 Thyroglobulin synthesis defect mondo_mondo_0010137_medgen_c0342196_omim_274900_orphanet_95716 MONDO:MONDO:0010137,MedGen:C0342196,OMIM:274900,Orphanet:95716 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF1R Hereditary diffuse leukoencephalopathy with spheroids mondo_mondo_0030796_medgen_c3711381_omim_ps221820_orphanet_313808 MONDO:MONDO:0030796,MedGen:C3711381,OMIM:PS221820,Orphanet:313808 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A2 Porencephaly 2 mondo_mondo_0013773_medgen_c3280970_omim_614483_orphanet_2940_orphanet_99810 MONDO:MONDO:0013773,MedGen:C3280970,OMIM:614483,Orphanet:2940,Orphanet:99810 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG7 COG7 congenital disorder of glycosylation mondo_mondo_0012118_medgen_c2931010_omim_608779_orphanet_79333 MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFI Factor I deficiency mondo_mondo_0012594_medgen_c3463916_omim_610984_orphanet_200418 MONDO:MONDO:0012594,MedGen:C3463916,OMIM:610984,Orphanet:200418 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BLOC1S6 Hermansky-Pudlak syndrome 9 mondo_mondo_0013606_medgen_c3280026_omim_614171_orphanet_280663_orphanet_79430 MONDO:MONDO:0013606,MedGen:C3280026,OMIM:614171,Orphanet:280663,Orphanet:79430 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG9 ALG9 congenital disorder of glycosylation mondo_mondo_0012117_medgen_c2931006_omim_608776_orphanet_79328 MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE Microvascular complications of diabetes, susceptibility to, 3 mondo_mondo_0012963_medgen_c2675470_omim_612624 MONDO:MONDO:0012963,MedGen:C2675470,OMIM:612624 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ACE Hemorrhage, intracerebral, susceptibility to mondo_mondo_0100533_medgen_c3281105_omim_614519 MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519 26 26 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence XDH Xanthinuria type II mondo_mondo_0011346_medgen_c1863688_omim_603592_orphanet_3467_orphanet_93602 MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS33B Cholestasis, progressive familial intrahepatic, 12 mondo_mondo_0031040_medgen_c5774311_omim_620010 MONDO:MONDO:0031040,MedGen:C5774311,OMIM:620010 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VCP Inclusion body myopathy with Paget disease of bone and frontotemporal dementia mondo_mondo_0000507_medgen_c1833662_omim_ps167320_orphanet_52430 MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TUBB3 Complex cortical dysplasia with other brain malformations 1 mondo_mondo_0013541_medgen_c3808397_omim_614039_orphanet_300570 MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPK1 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency mondo_mondo_0013761_medgen_c3280866_omim_614458_orphanet_293955 MONDO:MONDO:0013761,MedGen:C3280866,OMIM:614458,Orphanet:293955 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM260 Structural heart defects and renal anomalies syndrome mondo_mondo_0044321_medgen_c4479549_omim_617478_orphanet_689822 MONDO:MONDO:0044321,MedGen:C4479549,OMIM:617478,Orphanet:689822 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM127 Pheochromocytoma human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMC1 Autosomal dominant nonsyndromic hearing loss 36 mondo_mondo_0011708_medgen_c1847626_omim_606705_orphanet_90635 MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TGFBR1 Loeys-Dietz syndrome 1 mondo_mondo_0012212_medgen_c4551955_omim_609192_orphanet_60030 MONDO:MONDO:0012212,MedGen:C4551955,OMIM:609192,Orphanet:60030 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRC Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIM1 Stormorken syndrome mondo_mondo_0008497_medgen_c1861451_omim_185070_orphanet_3204 MONDO:MONDO:0008497,MedGen:C1861451,OMIM:185070,Orphanet:3204 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness mondo_mondo_0060496_medgen_c4479603_omim_617519 MONDO:MONDO:0060496,MedGen:C4479603,OMIM:617519 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC38A8 Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome mondo_mondo_0012216_medgen_c3807873_omim_609218_orphanet_397618 MONDO:MONDO:0012216,MedGen:C3807873,OMIM:609218,Orphanet:397618 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC27A4 Ichthyosis prematurity syndrome mondo_mondo_0012089_medgen_c1837610_omim_608649_orphanet_88621 MONDO:MONDO:0012089,MedGen:C1837610,OMIM:608649,Orphanet:88621 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC16A2 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCYL1 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome mondo_mondo_0014744_medgen_c5569084_omim_616719_orphanet_466794 MONDO:MONDO:0014744,MedGen:C5569084,OMIM:616719,Orphanet:466794 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Congenital myopathy 22A, classic mondo_mondo_0957247_medgen_c5830453_omim_620351 MONDO:MONDO:0957247,MedGen:C5830453,OMIM:620351 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCARB2 Action myoclonus-renal failure syndrome mondo_mondo_0009699_mesh_d020191_medgen_c0751779_omim_254900_orphanet_163696 MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPS26 Diamond-Blackfan anemia 10 mondo_mondo_0013217_medgen_c2750080_omim_613309_orphanet_124 MONDO:MONDO:0013217,MedGen:C2750080,OMIM:613309,Orphanet:124 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RFXANK MHC class II deficiency mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR1 Autosomal recessive cutis laxa type 2B mondo_mondo_0013051_medgen_c2751987_omim_612940_orphanet_357064 MONDO:MONDO:0013051,MedGen:C2751987,OMIM:612940,Orphanet:357064 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Episodic kinesigenic dyskinesia 1 mondo_mondo_0100352_medgen_c4552000_omim_128200_orphanet_98809 MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKAR1A Amelogenesis imperfecta type 1G mondo_mondo_0008771_medgen_c2931783_omim_204690_orphanet_1031_orphanet_171836 MONDO:MONDO:0008771,MedGen:C2931783,OMIM:204690,Orphanet:1031,Orphanet:171836 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PREPL Cystinuria human_phenotype_ontology_hp_0003131_mondo_mondo_0009067_medgen_c0010691_omim_220100_orphanet_214 Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRDM5 Brittle cornea syndrome 2 mondo_mondo_0013605_medgen_c3280011_omim_614170_orphanet_90354 MONDO:MONDO:0013605,MedGen:C3280011,OMIM:614170,Orphanet:90354 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 mondo_mondo_0013904_medgen_c3553813_omim_614830_orphanet_899 MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POGZ Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDHX Pyruvate dehydrogenase E3-binding protein deficiency mondo_mondo_0009503_medgen_c1855553_omim_245349_orphanet_255182 MONDO:MONDO:0009503,MedGen:C1855553,OMIM:245349,Orphanet:255182 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH2 Alagille syndrome due to a NOTCH2 point mutation mondo_mondo_0012439_medgen_c1857761_omim_610205_orphanet_261629_orphanet_52 MONDO:MONDO:0012439,MedGen:C1857761,OMIM:610205,Orphanet:261629,Orphanet:52 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYO6 Autosomal dominant nonsyndromic hearing loss 22 mondo_mondo_0011660_medgen_c2931767_omim_606346_orphanet_228012 MONDO:MONDO:0011660,MedGen:C2931767,OMIM:606346,Orphanet:228012 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LPL Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LDLRAP1 Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ10 EAST syndrome mondo_mondo_0013005_medgen_c2748572_omim_612780_orphanet_199343 MONDO:MONDO:0013005,MedGen:C2748572,OMIM:612780,Orphanet:199343 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL17RA Immunodeficiency 51 mondo_mondo_0013500_medgen_c4310803_omim_613953_orphanet_1334 MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953,Orphanet:1334 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPDL Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB2 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Hypochondroplasia mondo_mondo_0007793_medgen_c0410529_omim_146000_orphanet_429 MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000,Orphanet:429 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYLD Familial cylindromatosis mondo_mondo_0007565_medgen_c1851526_omim_132700_orphanet_211_orphanet_79493 MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700,Orphanet:211,Orphanet:79493 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CXCR4 WHIM syndrome 1 mondo_mondo_8000006_medgen_c5542296_omim_193670_orphanet_51636 MONDO:MONDO:8000006,MedGen:C5542296,OMIM:193670,Orphanet:51636 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CPAP Microcephaly 6, primary, autosomal recessive mondo_mondo_0012029_medgen_c1842109_omim_608393_orphanet_2512 MONDO:MONDO:0012029,MedGen:C1842109,OMIM:608393,Orphanet:2512 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Autosomal recessive nonsyndromic hearing loss 53 mondo_mondo_0012333_medgen_c1864746_omim_609706_orphanet_90636 MONDO:MONDO:0012333,MedGen:C1864746,OMIM:609706,Orphanet:90636 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CD46 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly mondo_mondo_0013040_medgen_c2752040_omim_612922_orphanet_2134 MONDO:MONDO:0013040,MedGen:C2752040,OMIM:612922,Orphanet:2134 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1S Congenital myopathy 18 mondo_mondo_0859514_medgen_c5830283_omim_620246 MONDO:MONDO:0859514,MedGen:C5830283,OMIM:620246 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures mondo_mondo_0859286_medgen_c5774213_omim_620029 MONDO:MONDO:0859286,MedGen:C5774213,OMIM:620029 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C19ORF12 Neurodegeneration with brain iron accumulation 4 mondo_mondo_0013674_medgen_c3280371_omim_614298_orphanet_289560 MONDO:MONDO:0013674,MedGen:C3280371,OMIM:614298,Orphanet:289560 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia mondo_mondo_0008842_medgen_c1859598_omim_208920_orphanet_1168 MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMPD2 Hereditary spastic paraplegia 63 mondo_mondo_0014305_medgen_c3810295_omim_615686_orphanet_401805 MONDO:MONDO:0014305,MedGen:C3810295,OMIM:615686,Orphanet:401805 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGPS Rhizomelic chondrodysplasia punctata type 3 mondo_mondo_0010823_medgen_c1838612_omim_600121_orphanet_177_orphanet_309803 MONDO:MONDO:0010823,MedGen:C1838612,OMIM:600121,Orphanet:177,Orphanet:309803 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AGK Cataract 38 mondo_mondo_0013859_medgen_c3553494_omim_614691_orphanet_91492 MONDO:MONDO:0013859,MedGen:C3553494,OMIM:614691,Orphanet:91492 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADA Severe combined immunodeficiency disease human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCG8 Sitosterolemia 1 mondo_mondo_0020747_medgen_c2749759_omim_210250 MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250 25 25 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMYND10 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZMIZ1 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies mondo_mondo_0032855_medgen_c5231448_omim_618659 MONDO:MONDO:0032855,MedGen:C5231448,OMIM:618659 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDFY3 Microcephaly 18, primary, autosomal dominant mondo_mondo_0054593_medgen_c4479608_omim_617520 MONDO:MONDO:0054593,MedGen:C4479608,OMIM:617520 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence VARS2 Combined oxidative phosphorylation defect type 20 mondo_mondo_0014397_medgen_c4014660_omim_615917_orphanet_420728 MONDO:MONDO:0014397,MedGen:C4014660,OMIM:615917,Orphanet:420728 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Skeletal dysplasia human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRDN Catecholaminergic polymorphic ventricular tachycardia 5 mondo_mondo_0014191_medgen_c3809536_omim_615441_orphanet_3286 MONDO:MONDO:0014191,MedGen:C3809536,OMIM:615441,Orphanet:3286 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM3 Congenital myopathy 4B, autosomal recessive mondo_mondo_0012239_medgen_c5829889_omim_609284_orphanet_171433_orphanet_171439_orphanet_171881 MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284,Orphanet:171433,Orphanet:171439,Orphanet:171881 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM107 Leukoencephalopathy with calcifications and cysts mondo_mondo_0013803_medgen_c3281200_omim_614561_orphanet_542310 MONDO:MONDO:0013803,MedGen:C3281200,OMIM:614561,Orphanet:542310 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCTN1 Joubert syndrome 13 mondo_mondo_0013608_medgen_c3280031_omim_614173_orphanet_475 MONDO:MONDO:0013608,MedGen:C3280031,OMIM:614173,Orphanet:475 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TAP2 MHC class I deficiency mondo_mondo_0011476_medgen_c1858266_omim_ps604571_orphanet_34592 MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STIM1 Myopathy with tubular aggregates mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD4 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies mondo_mondo_0032838_medgen_c5231431_omim_618622_orphanet_664923 MONDO:MONDO:0032838,MedGen:C5231431,OMIM:618622,Orphanet:664923 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCB1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC52A3 Brown-Vialetto-van Laere syndrome 1 mondo_mondo_0024537_medgen_c0796274_omim_211530_orphanet_572543_orphanet_97229 MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC45A2 SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR medgen_c2673584_omim_227240 MedGen:C2673584,OMIM:227240 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKIC2 Trichohepatoenteric syndrome 2 mondo_mondo_0013818_medgen_c3281289_omim_614602_orphanet_84064 MONDO:MONDO:0013818,MedGen:C3281289,OMIM:614602,Orphanet:84064 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIGMAR1 Amyotrophic lateral sclerosis type 16 mondo_mondo_0013715_medgen_c3280587_omim_614373_orphanet_300605 MONDO:MONDO:0013715,MedGen:C3280587,OMIM:614373,Orphanet:300605 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCA Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SEC63 Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCN4A Congenital myopathy 22B, severe fetal mondo_mondo_0957265_medgen_c5830501_omim_620369 MONDO:MONDO:0957265,MedGen:C5830501,OMIM:620369 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET RET-related disorder ret_related_disorder . 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PYCR2 Hypomyelinating leukodystrophy 10 mondo_mondo_0014632_medgen_c4225332_omim_616420_orphanet_481152 MONDO:MONDO:0014632,MedGen:C4225332,OMIM:616420,Orphanet:481152 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRKCSH Polycystic liver disease 1 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PQBP1 Renpenning syndrome mondo_mondo_0010653_medgen_c0796135_omim_309500_orphanet_3242 MONDO:MONDO:0010653,MedGen:C0796135,OMIM:309500,Orphanet:3242 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP1R12A Genitourinary and/or brain malformation syndrome mondo_mondo_0032934_medgen_c5394158_omim_618820 MONDO:MONDO:0032934,MedGen:C5394158,OMIM:618820 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMK Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 mondo_mondo_0014101_medgen_c3808964_omim_615249_orphanet_899 MONDO:MONDO:0014101,MedGen:C3808964,OMIM:615249,Orphanet:899 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1L1 Heterotaxy, visceral, 8, autosomal mondo_mondo_0014967_medgen_c4310668_omim_617205 MONDO:MONDO:0014967,MedGen:C4310668,OMIM:617205 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PJVK Autosomal recessive nonsyndromic hearing loss 59 mondo_mondo_0012445_medgen_c1857744_omim_610220_orphanet_90636 MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6C Cone dystrophy 4 mondo_mondo_0013129_medgen_c2751308_omim_613093_orphanet_49382 MONDO:MONDO:0013129,MedGen:C2751308,OMIM:613093,Orphanet:49382 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PDE6A Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTX2 Syndromic microphthalmia type 5 mondo_mondo_0012413_medgen_c1864690_omim_610125_orphanet_178364 MONDO:MONDO:0012413,MedGen:C1864690,OMIM:610125,Orphanet:178364 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIA Brain malformations with or without urinary tract defects mondo_mondo_0100478_medgen_c4478940_omim_613735 MONDO:MONDO:0100478,MedGen:C4478940,OMIM:613735 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXN Dilated cardiomyopathy 1CC mondo_mondo_0013147_medgen_c2751084_omim_613122_orphanet_154 MONDO:MONDO:0013147,MedGen:C2751084,OMIM:613122,Orphanet:154 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 mondo_mondo_0013507_medgen_c3151409_omim_613960_orphanet_379 MONDO:MONDO:0013507,MedGen:C3151409,OMIM:613960,Orphanet:379 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTOR Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome mondo_mondo_0014716_medgen_c4225259_omim_616638_orphanet_457485 MONDO:MONDO:0014716,MedGen:C4225259,OMIM:616638,Orphanet:457485 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence MSL3 Basilicata-Akhtar syndrome mondo_mondo_0026730_medgen_c5231394_omim_301032 MONDO:MONDO:0026730,MedGen:C5231394,OMIM:301032 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPV17 Mitochondrial DNA depletion syndrome, hepatocerebral form mondo_mondo_0100512_medgen_c3711385_orphanet_254871 MONDO:MONDO:0100512,MedGen:C3711385,Orphanet:254871 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MALT1 Combined immunodeficiency due to MALT1 deficiency mondo_mondo_0014197_medgen_c3809583_omim_615468_orphanet_397964 MONDO:MONDO:0014197,MedGen:C3809583,OMIM:615468,Orphanet:397964 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAK Retinitis pigmentosa 62 mondo_mondo_0013611_medgen_c3280042_omim_614181_orphanet_791 MONDO:MONDO:0013611,MedGen:C3280042,OMIM:614181,Orphanet:791 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRAS Noonan syndrome 3 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 Multiple epiphyseal dysplasia, Al-Gazali type mondo_mondo_0011778_medgen_c1846722_omim_607131_orphanet_166024 MONDO:MONDO:0011778,MedGen:C1846722,OMIM:607131,Orphanet:166024 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF7 Hydrolethalus syndrome 2 mondo_mondo_0013585_medgen_c3279899_omim_614120_orphanet_2189 MONDO:MONDO:0013585,MedGen:C3279899,OMIM:614120,Orphanet:2189 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNMA1 Generalized epilepsy-paroxysmal dyskinesia syndrome mondo_mondo_0012276_medgen_c5574945_omim_609446_orphanet_79137 MONDO:MONDO:0012276,MedGen:C5574945,OMIM:609446,Orphanet:79137 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPA Inosine triphosphatase deficiency mondo_mondo_0013461_medgen_c0342800_omim_613850 MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGB3 Bleeding disorder, platelet-type, 24 mondo_mondo_0030996_medgen_c5543280_omim_619271 MONDO:MONDO:0030996,MedGen:C5543280,OMIM:619271 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA2 Hereditary spastic paraplegia 46 mondo_mondo_0013737_medgen_c2828721_omim_614409_orphanet_320391 MONDO:MONDO:0013737,MedGen:C2828721,OMIM:614409,Orphanet:320391 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRA1 Developmental and epileptic encephalopathy, 19 mondo_mondo_0014328_medgen_c3810400_omim_615744_orphanet_33069 MONDO:MONDO:0014328,MedGen:C3810400,OMIM:615744,Orphanet:33069 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FKBP10 Bruck syndrome 1 mondo_mondo_0009806_medgen_c1850168_omim_259450_orphanet_1149_orphanet_2771 MONDO:MONDO:0009806,MedGen:C1850168,OMIM:259450,Orphanet:1149,Orphanet:2771 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Familial dysfibrinogenemia mondo_mondo_0014452_medgen_c0272350_omim_616004_orphanet_335_orphanet_98881 MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Congenital afibrinogenemia mondo_mondo_0008737_medgen_c2584774_omim_202400_orphanet_335_orphanet_98880 MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FERMT3 Leukocyte adhesion deficiency 3 mondo_mondo_0013016_medgen_c2748536_omim_612840_orphanet_2968_orphanet_99844 MONDO:MONDO:0013016,MedGen:C2748536,OMIM:612840,Orphanet:2968,Orphanet:99844 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FASTKD2 Combined oxidative phosphorylation deficiency 44 mondo_mondo_0030020_medgen_c5394293_omim_618855 MONDO:MONDO:0030020,MedGen:C5394293,OMIM:618855 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F5 Factor V deficiency human_phenotype_ontology_hp_0003225_mondo_mondo_0020586_medgen_c4317320_orphanet_326 Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F10 Hereditary factor X deficiency disease mondo_mondo_0009212_medgen_c0272327_omim_227600_orphanet_328 MONDO:MONDO:0009212,MedGen:C0272327,OMIM:227600,Orphanet:328 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DRC1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLL3 Spondylocostal dysostosis 1, autosomal recessive mondo_mondo_0020692_medgen_cn032975_omim_277300_orphanet_2311 MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CRLF1 Cold-induced sweating syndrome 1 mondo_mondo_0010091_medgen_c1848947_omim_272430_orphanet_1545_orphanet_157820 MONDO:MONDO:0010091,MedGen:C1848947,OMIM:272430,Orphanet:1545,Orphanet:157820 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Otospondylomegaepiphyseal dysplasia, autosomal recessive mondo_mondo_0044206_medgen_cn034493_omim_215150_orphanet_1427 MONDO:MONDO:0044206,MedGen:CN034493,OMIM:215150,Orphanet:1427 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNOT1 Vissers-Bodmer syndrome mondo_mondo_0033618_medgen_c5436647_omim_619033 MONDO:MONDO:0033618,MedGen:C5436647,OMIM:619033 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHST14 Ehlers-Danlos syndrome, musculocontractural type mondo_mondo_0011142_medgen_c1866294_orphanet_2953 MONDO:MONDO:0011142,MedGen:C1866294,Orphanet:2953 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDK10 Al Kaissi syndrome mondo_mondo_0044324_medgen_c4540156_omim_617694 MONDO:MONDO:0044324,MedGen:C4540156,OMIM:617694 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CANT1 Desbuquois dysplasia 1 mondo_mondo_0009629_medgen_c4012146_omim_251450_orphanet_1425 MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1C Timothy syndrome mondo_mondo_0010979_mesh_c536962_medgen_c1832916_omim_601005_orphanet_65283 MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C10ORF105 Pituitary adenoma 5, multiple types mondo_mondo_0054601_medgen_c4539685_omim_617540 MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALT7 Ehlers-Danlos syndrome progeroid type mondo_mondo_0007526_medgen_cn030853_orphanet_75496 MONDO:MONDO:0007526,MedGen:CN030853,Orphanet:75496 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANO5 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AFG3L2 Spinocerebellar ataxia type 28 mondo_mondo_0012450_medgen_c1853249_omim_610246_orphanet_101109 MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246,Orphanet:101109 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAM17 Inflammatory skin and bowel disease, neonatal, 1 mondo_mondo_0013693_medgen_c3280501_omim_614328_orphanet_294023 MONDO:MONDO:0013693,MedGen:C3280501,OMIM:614328,Orphanet:294023 24 24 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBA5 Developmental and epileptic encephalopathy, 44 mondo_mondo_0014933_medgen_c4310700_omim_617132 MONDO:MONDO:0014933,MedGen:C4310700,OMIM:617132 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC8 Bardet-Biedl syndrome 8 mondo_mondo_0014436_medgen_c1859566_omim_615985_orphanet_110 MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Sarcotubular myopathy mondo_mondo_0009683_medgen_c0270968_omim_254110_orphanet_1878 MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM1 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TP63 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 mondo_mondo_0011428_medgen_c1858562_omim_604292_orphanet_1896 MONDO:MONDO:0011428,MedGen:C1858562,OMIM:604292,Orphanet:1896 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TONSL Sponastrime dysplasia mondo_mondo_0010068_medgen_c1300260_omim_271510_orphanet_93357 MONDO:MONDO:0010068,MedGen:C1300260,OMIM:271510,Orphanet:93357 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TERT Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STUB1 Autosomal recessive spinocerebellar ataxia 16 mondo_mondo_0014339_medgen_c5190574_omim_615768_orphanet_412057 MONDO:MONDO:0014339,MedGen:C5190574,OMIM:615768,Orphanet:412057 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STAG1 Intellectual disability, autosomal dominant 47 mondo_mondo_0030912_medgen_c4539951_omim_617635_orphanet_502434 MONDO:MONDO:0030912,MedGen:C4539951,OMIM:617635,Orphanet:502434 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPTA1 Hereditary spherocytosis type 3 mondo_mondo_0010053_medgen_c2678338_omim_270970_orphanet_822 MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPR Dopa-responsive dystonia due to sepiapterin reductase deficiency mondo_mondo_0012994_medgen_c0268468_omim_612716_orphanet_70594 MONDO:MONDO:0012994,MedGen:C0268468,OMIM:612716,Orphanet:70594 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SKI Shprintzen-Goldberg syndrome mondo_mondo_0008426_medgen_c1321551_omim_182212_orphanet_2462 MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SHH Solitary median maxillary central incisor syndrome human_phenotype_ontology_hp_0001568_human_phenotype_ontology_hp_0001573_human_phenotype_ontology_hp_0006315_human_phenotype_ontology_hp_0006356_mondo_mondo_0007819_medgen_c1840235_omim_147250 Human_Phenotype_Ontology:HP:0001568,Human_Phenotype_Ontology:HP:0001573,Human_Phenotype_Ontology:HP:0006315,Human_Phenotype_Ontology:HP:0006356,MONDO:MONDO:0007819,MedGen:C1840235,OMIM:147250 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SGCD Dilated cardiomyopathy 1L mondo_mondo_0011702_medgen_c1847667_omim_606685_orphanet_154 MONDO:MONDO:0011702,MedGen:C1847667,OMIM:606685,Orphanet:154 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RSPH1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RBM10 TARP syndrome mondo_mondo_0010711_medgen_c1839463_omim_311900_orphanet_2886 MONDO:MONDO:0010711,MedGen:C1839463,OMIM:311900,Orphanet:2886 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAG2 Inborn error of immunity mondo_mondo_0003778_medgen_c0398686_orphanet_101997 MONDO:MONDO:0003778,MedGen:C0398686,Orphanet:101997 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRX Charcot-Marie-Tooth disease type 4F mondo_mondo_0013959_medgen_c3540453_omim_614895_orphanet_99952 MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRSS56 Isolated microphthalmia 6 mondo_mondo_0013293_medgen_c3150757_omim_613517_orphanet_2542 MONDO:MONDO:0013293,MedGen:C3150757,OMIM:613517,Orphanet:2542 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROS1 Protein S deficiency disease mondo_mondo_0002304_mesh_d018455_medgen_c0242666 MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2R5D Hogue-Janssens syndrome 1 mondo_mondo_0014602_medgen_c5779996_omim_616355_orphanet_457279 MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PMP22 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Neurodegeneration with brain iron accumulation mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLA2G6 Iron accumulation in brain human_phenotype_ontology_hp_0012675_medgen_c4021076 Human_Phenotype_Ontology:HP:0012675,MedGen:C4021076 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIK3CA Cowden syndrome mondo_mondo_0016063_medgen_c0018553_omim_ps158350_orphanet_201 MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3 mondo_mondo_0014165_medgen_c3809356_omim_615398_orphanet_369837 MONDO:MONDO:0014165,MedGen:C3809356,OMIM:615398,Orphanet:369837 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ODAD1 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NSUN2 Intellectual disability, autosomal recessive 5 mondo_mondo_0012613_medgen_c1970199_omim_611091_orphanet_88616 MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091,Orphanet:88616 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NKX2-1 Benign hereditary chorea mondo_mondo_0021011_medgen_c0393584_omim_118700_orphanet_1429 MONDO:MONDO:0021011,MedGen:C0393584,OMIM:118700,Orphanet:1429 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NFIB Macrocephaly, acquired, with impaired intellectual development mondo_mondo_0032658_medgen_c4748993_omim_618286 MONDO:MONDO:0032658,MedGen:C4748993,OMIM:618286 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEXN Hypertrophic cardiomyopathy 20 mondo_mondo_0013477_medgen_c3151267_omim_613876 MONDO:MONDO:0013477,MedGen:C3151267,OMIM:613876 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEU1 Sialidosis type 2 mondo_mondo_0009738_medgen_c4282398_omim_256550_orphanet_812_orphanet_87876 MONDO:MONDO:0009738,MedGen:C4282398,OMIM:256550,Orphanet:812,Orphanet:87876 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK8 Nephronophthisis 9 mondo_mondo_0013444_medgen_c3151188_omim_613824_orphanet_655 MONDO:MONDO:0013444,MedGen:C3151188,OMIM:613824,Orphanet:655 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS6 Mitochondrial complex I deficiency, nuclear type 9 mondo_mondo_0032615_medgen_c4748767_omim_618232 MONDO:MONDO:0032615,MedGen:C4748767,OMIM:618232 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MORC2 Charcot-Marie-Tooth disease axonal type 2Z mondo_mondo_0014736_medgen_c5569025_omim_616688_orphanet_466768 MONDO:MONDO:0014736,MedGen:C5569025,OMIM:616688,Orphanet:466768 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MOCS2 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 mondo_mondo_0009644_medgen_c1854989_omim_252160_orphanet_308393_orphanet_833 MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160,Orphanet:308393,Orphanet:833 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MC2R Glucocorticoid deficiency 1 mondo_mondo_0024536_medgen_c4049650_omim_202200_orphanet_361 MONDO:MONDO:0024536,MedGen:C4049650,OMIM:202200,Orphanet:361 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MARK2 Autism spectrum disorder mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP6 Tooth agenesis, selective, 7 mondo_mondo_0014749_medgen_c4225231_omim_616724_orphanet_99798 MONDO:MONDO:0014749,MedGen:C4225231,OMIM:616724,Orphanet:99798 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM4B Intellectual developmental disorder, autosomal dominant 65 mondo_mondo_0023657_medgen_c5543371_omim_619320 MONDO:MONDO:0023657,MedGen:C5543371,OMIM:619320 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Permanent neonatal diabetes mellitus mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPPL1 Opsismodysplasia mondo_mondo_0009785_medgen_c0432219_omim_258480_orphanet_2746 MONDO:MONDO:0009785,MedGen:C0432219,OMIM:258480,Orphanet:2746 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IL10RA Inflammatory bowel disease 28 mondo_mondo_0013153_medgen_c2751053_omim_613148_orphanet_238569 MONDO:MONDO:0013153,MedGen:C2751053,OMIM:613148,Orphanet:238569 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPG2 Schwartz-Jampel syndrome type 1 mondo_mondo_0100435_medgen_c4551479_omim_255800 MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence HACE1 Spastic paraplegia-severe developmental delay-epilepsy syndrome mondo_mondo_0014764_medgen_c4225215_omim_616756_orphanet_464282 MONDO:MONDO:0014764,MedGen:C4225215,OMIM:616756,Orphanet:464282 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence H1-4 Rahman syndrome mondo_mondo_0044323_medgen_c4479637_omim_617537_orphanet_642763 MONDO:MONDO:0044323,MedGen:C4479637,OMIM:617537,Orphanet:642763 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPC3 Simpson-Golabi-Behmel syndrome type 1 mondo_mondo_0020602_medgen_c0796154_omim_312870_orphanet_373 MONDO:MONDO:0020602,MedGen:C0796154,OMIM:312870,Orphanet:373 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP9 Bernard Soulier syndrome mondo_mondo_0009276_mesh_d001606_medgen_c0005129_omim_231200_orphanet_274 MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 GLI3-related disorder gli3_related_disorder MedGen:CN239292 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHR Laron-type isolated somatotropin defect mondo_mondo_0009877_medgen_c0271568_omim_262500_orphanet_633 MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GATA6 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome mondo_mondo_0010802_medgen_c2931296_omim_600001_orphanet_2255 MONDO:MONDO:0010802,MedGen:C2931296,OMIM:600001,Orphanet:2255 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GABRB2 Developmental and epileptic encephalopathy 92 mondo_mondo_0020631_medgen_c4693362_omim_617829 MONDO:MONDO:0020631,MedGen:C4693362,OMIM:617829 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTL Neuroferritinopathy mondo_mondo_0011638_medgen_c1853578_omim_606159_orphanet_157846 MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FRMD7 Nystagmus 1, congenital, X-linked mondo_mondo_0010693_medgen_c1839580_omim_310700 MONDO:MONDO:0010693,MedGen:C1839580,OMIM:310700 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FOLR1 Cerebral folate transport deficiency mondo_mondo_0013110_medgen_c2751584_omim_613068_orphanet_217382 MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068,Orphanet:217382 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Achondroplasia mondo_mondo_0007037_medgen_c0001080_omim_100800_orphanet_15 MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800,Orphanet:15 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ERF TWIST1-related craniosynostosis mondo_mondo_0007399_medgen_c4551902_omim_123100_orphanet_63440 MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 Hypopigmentation-punctate palmoplantar keratoderma syndrome mondo_mondo_0014227_medgen_c3809781_omim_615522_orphanet_324561 MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNM2 Charcot-Marie-Tooth disease dominant intermediate B mondo_mondo_0011674_medgen_c1847902_omim_606482_orphanet_100044_orphanet_228179 MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJB2 Neuronopathy, distal hereditary motor, autosomal recessive 5 mondo_mondo_0013947_medgen_c4749918_omim_614881_orphanet_314485 MONDO:MONDO:0013947,MedGen:C4749918,OMIM:614881,Orphanet:314485 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DKC1 Dyskeratosis congenita, X-linked mondo_mondo_0010584_medgen_c1148551_omim_305000 MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCDC2 Isolated neonatal sclerosing cholangitis mondo_mondo_0018816_medgen_c4479344_omim_617394_orphanet_480556 MONDO:MONDO:0018816,MedGen:C4479344,OMIM:617394,Orphanet:480556 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence D2HGDH D-2-hydroxyglutaric aciduria 1 mondo_mondo_0024554_medgen_c3152055_omim_600721_orphanet_79315 MONDO:MONDO:0024554,MedGen:C3152055,OMIM:600721,Orphanet:79315 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Otospondylomegaepiphyseal dysplasia, autosomal dominant mondo_mondo_0008490_medgen_c1848488_omim_184840_orphanet_166100_orphanet_3450 MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLDN19 Renal hypomagnesemia 5 with ocular involvement mondo_mondo_0009548_medgen_c4721891_omim_248190_orphanet_2196 MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN2 Leukoencephalopathy with mild cerebellar ataxia and white matter edema mondo_mondo_0014292_medgen_c4554120_omim_615651_orphanet_363540 MONDO:MONDO:0014292,MedGen:C4554120,OMIM:615651,Orphanet:363540 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNB1 Congenital myasthenic syndrome 2A mondo_mondo_0014581_medgen_c4225374_omim_616313_orphanet_590 MONDO:MONDO:0014581,MedGen:C4225374,OMIM:616313,Orphanet:590 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD3 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CERKL Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP152 Seckel syndrome 5 mondo_mondo_0013443_medgen_c3151187_omim_613823_orphanet_808 MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BSND Bartter syndrome mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B4GALNT1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence B3GALT6 Ehlers-Danlos syndrome, spondylodysplastic type, 2 mondo_mondo_0014139_medgen_c3809210_omim_615349_orphanet_536467_orphanet_75496 MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVP Neurohypophyseal diabetes insipidus mondo_mondo_0007450_medgen_c0342394_omim_125700_orphanet_178029_orphanet_30925 MONDO:MONDO:0007450,MedGen:C0342394,OMIM:125700,Orphanet:178029,Orphanet:30925 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Sarcotubular myopathy mondo_mondo_0009683_medgen_c0270968_omim_254110_orphanet_1878 MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMER1 Osteopathia striata with cranial sclerosis mondo_mondo_0010310_medgen_c0432268_omim_300373_orphanet_2780 MONDO:MONDO:0010310,MedGen:C0432268,OMIM:300373,Orphanet:2780 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALG1 Congenital disorder of glycosylation mondo_mondo_0015286_medgen_c0282577_orphanet_137 MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALDH4A1 Hyperprolinemia type 2 mondo_mondo_0009401_medgen_c2931835_omim_239510_orphanet_79101 MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ALAS2 X-linked sideroblastic anemia 1 mondo_mondo_0020721_medgen_c4551511_omim_300751_orphanet_75563 MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL4 Ectopia lentis 2, isolated, autosomal recessive mondo_mondo_0009152_medgen_c3541474_omim_225100_orphanet_1885 MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB4 Low phospholipid associated cholelithiasis mondo_mondo_0010939_medgen_c2609268_omim_600803_orphanet_69663 MONDO:MONDO:0010939,MedGen:C2609268,OMIM:600803,Orphanet:69663 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 Combined oxidative phosphorylation defect type 8 mondo_mondo_0013570_medgen_c4518839_omim_614096_orphanet_319504 MONDO:MONDO:0013570,MedGen:C4518839,OMIM:614096,Orphanet:319504 23 23 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VPS33B Keratoderma-ichthyosis-deafness syndrome, autosomal recessive mondo_mondo_0859278_medgen_c5774200_omim_620009 MONDO:MONDO:0859278,MedGen:C5774200,OMIM:620009 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROD Familial porphyria cutanea tarda mondo_mondo_0008296_medgen_c0268323_omim_176100_orphanet_101330_orphanet_443062 MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UPF3B Syndromic X-linked intellectual disability 14 mondo_mondo_0010398_medgen_c1970822_omim_300676_orphanet_776 MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676,Orphanet:776 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UNG Hyper-IgM syndrome type 5 mondo_mondo_0011971_medgen_c1720958_omim_608106_orphanet_101092 MONDO:MONDO:0011971,MedGen:C1720958,OMIM:608106,Orphanet:101092 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A9 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A8 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A7 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A6 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A5 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A4 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A3 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A10 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGT1A1 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 medgen_c1866173_omim_601816 MedGen:C1866173,OMIM:601816 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UGDH Epileptic encephalopathy human_phenotype_ontology_hp_0200134_medgen_c0543888 Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TYRP1 Oculocutaneous albinism type 3 mondo_mondo_0008747_medgen_c0342683_omim_203290_orphanet_79433 MONDO:MONDO:0008747,MedGen:C0342683,OMIM:203290,Orphanet:79433 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TULP1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRPV4 Metatropic dysplasia mondo_mondo_0007986_medgen_c0265281_omim_156530_orphanet_2635 MONDO:MONDO:0007986,MedGen:C0265281,OMIM:156530,Orphanet:2635 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNXB Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNI3 Hypertrophic cardiomyopathy 7 mondo_mondo_0013369_medgen_c1860752_omim_613690 MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like 1 mondo_mondo_0800045_medgen_c4225218_omim_616744_orphanet_674762 MONDO:MONDO:0800045,MedGen:C4225218,OMIM:616744,Orphanet:674762 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM216 Meckel syndrome, type 2 mondo_mondo_0011296_medgen_c1864148_omim_603194_orphanet_564 MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194,Orphanet:564 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCAP Hypertrophic cardiomyopathy 25 mondo_mondo_0011843_medgen_c4225408_omim_607487 MONDO:MONDO:0011843,MedGen:C4225408,OMIM:607487 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX4 Coxopodopatellar syndrome mondo_mondo_0007841_medgen_c1840061_omim_147891_orphanet_1509 MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1A Pseudohypoaldosteronism, type IB1, autosomal recessive mondo_mondo_0009917_medgen_c5774176_omim_264350_orphanet_171876_orphanet_756 MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCAPER Intellectual developmental disorder and retinitis pigmentosa; IDDRP mondo_mondo_0032594_medgen_c4748658_omim_618195 MONDO:MONDO:0032594,MedGen:C4748658,OMIM:618195 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ROR2 Brachydactyly type B1 mondo_mondo_0007220_medgen_c1862112_omim_113000_orphanet_572385_orphanet_93383 MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Multiple endocrine neoplasia type 2B mondo_mondo_0008082_mesh_d018814_medgen_c0025269_omim_162300_orphanet_247709_orphanet_653 MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB23 RAB23-related Carpenter syndrome mondo_mondo_0008710_medgen_c4551510_omim_201000_orphanet_65759 MONDO:MONDO:0008710,MedGen:C4551510,OMIM:201000,Orphanet:65759 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB23 Carpenter syndrome mondo_mondo_0019012_medgen_c1275078_omim_ps201000_orphanet_65759 MONDO:MONDO:0019012,MedGen:C1275078,OMIM:PS201000,Orphanet:65759 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PXDN Anterior segment dysgenesis 7 mondo_mondo_0010015_medgen_c3151617_omim_269400_orphanet_289499 MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PURA Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Neuroocular syndrome mondo_mondo_0859193_medgen_c5551362_omim_ps619539 MONDO:MONDO:0859193,MedGen:C5551362,OMIM:PS619539 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence POMK Limb-girdle muscular dystrophy due to POMK deficiency mondo_mondo_0014489_medgen_c4015184_omim_616094_orphanet_445110 MONDO:MONDO:0014489,MedGen:C4015184,OMIM:616094,Orphanet:445110 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLCB1 Developmental and epileptic encephalopathy, 12 mondo_mondo_0013389_medgen_c3150988_omim_613722 MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2 mondo_mondo_0010466_medgen_c3275508_omim_300868_orphanet_300496 MONDO:MONDO:0010466,MedGen:C3275508,OMIM:300868,Orphanet:300496 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis mondo_mondo_0014679_medgen_c4225295_omim_616531 MONDO:MONDO:0014679,MedGen:C4225295,OMIM:616531 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF21A Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures mondo_mondo_0032883_medgen_c5231476_omim_618725 MONDO:MONDO:0032883,MedGen:C5231476,OMIM:618725 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX2 Peroxisome biogenesis disorder 5B mondo_mondo_0013933_medgen_c3542026_omim_614867_orphanet_44 MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867,Orphanet:44 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDE1 Aortic aneurysm, familial thoracic 4 mondo_mondo_0007568_medgen_c1851504_omim_132900 MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NAA10 Ogden syndrome mondo_mondo_0010457_medgen_c3275447_omim_300855_orphanet_276432 MONDO:MONDO:0010457,MedGen:C3275447,OMIM:300855,Orphanet:276432 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MTMR10 Karyomegalic interstitial nephritis mondo_mondo_0013898_medgen_c3553774_omim_614817_orphanet_401996 MONDO:MONDO:0013898,MedGen:C3553774,OMIM:614817,Orphanet:401996 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MCOLN1 Lisch epithelial corneal dystrophy mondo_mondo_0010425_medgen_c2749050_omim_620763_orphanet_98955 MONDO:MONDO:0010425,MedGen:C2749050,OMIM:620763,Orphanet:98955 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LTBP4 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies mondo_mondo_0013170_medgen_c2750804_omim_613177_orphanet_221145 MONDO:MONDO:0013170,MedGen:C2750804,OMIM:613177,Orphanet:221145 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRRC37A2 Progressive myoclonic epilepsy mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Autosomal dominant osteopetrosis 1 mondo_mondo_0011877_medgen_c1843330_omim_607634_orphanet_2783 MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT5 Epidermolysis bullosa simplex mondo_mondo_0017610_medgen_c0079298_omim_ps131760_orphanet_304 MONDO:MONDO:0017610,MedGen:C0079298,OMIM:PS131760,Orphanet:304 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KIF14 Microcephaly 20, primary, autosomal recessive mondo_mondo_0054761_medgen_c4693572_omim_617914 MONDO:MONDO:0054761,MedGen:C4693572,OMIM:617914 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KDM5C Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNV2 Cone dystrophy with supernormal rod response mondo_mondo_0012475_medgen_c1835897_omim_610356_orphanet_209932 MONDO:MONDO:0012475,MedGen:C1835897,OMIM:610356,Orphanet:209932 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPR1 Spinocerebellar ataxia type 29 mondo_mondo_0007298_medgen_c1861732_omim_117360_orphanet_208513 MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360,Orphanet:208513 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence IMPG2 Retinitis pigmentosa 56 mondo_mondo_0013314_medgen_c3150819_omim_613581_orphanet_791 MONDO:MONDO:0013314,MedGen:C3150819,OMIM:613581,Orphanet:791 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IHH Brachydactyly type A1 human_phenotype_ontology_hp_0009371_mondo_mondo_0007215_medgen_c1862151_omim_112500_orphanet_93388 Human_Phenotype_Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT80 Asphyxiating thoracic dystrophy 2 mondo_mondo_0012644_medgen_c1970005_omim_611263_orphanet_474 MONDO:MONDO:0012644,MedGen:C1970005,OMIM:611263,Orphanet:474 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HINT1 Autosomal recessive axonal neuropathy with neuromyotonia mondo_mondo_0007646_medgen_c5700127_omim_137200_orphanet_324442 MONDO:MONDO:0007646,MedGen:C5700127,OMIM:137200,Orphanet:324442 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GOSR2 Progressive myoclonic epilepsy mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GHRHR Isolated growth hormone deficiency, type 4 mondo_mondo_0032567_medgen_c4722273_omim_618157_orphanet_684247 MONDO:MONDO:0032567,MedGen:C4722273,OMIM:618157,Orphanet:684247 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GDAP1 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive mondo_mondo_0011898_medgen_c1843183_omim_607706_orphanet_101097 MONDO:MONDO:0011898,MedGen:C1843183,OMIM:607706,Orphanet:101097 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FTL Hereditary hyperferritinemia with congenital cataracts mondo_mondo_0010952_medgen_c1833213_omim_600886_orphanet_163 MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR3 Thanatophoric dysplasia type 1 mondo_mondo_0008546_medgen_c1868678_omim_187600_orphanet_1860_orphanet_2655 MONDO:MONDO:0008546,MedGen:C1868678,OMIM:187600,Orphanet:1860,Orphanet:2655 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNHD1 Spermatogenic failure 65 mondo_mondo_0030531_medgen_c5562067_omim_619712 MONDO:MONDO:0030531,MedGen:C5562067,OMIM:619712 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DLG3 Intellectual disability, X-linked 90 mondo_mondo_0010452_medgen_c3275443_omim_300850_orphanet_777 MONDO:MONDO:0010452,MedGen:C3275443,OMIM:300850,Orphanet:777 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DCC Mirror movements 1 mondo_mondo_0008002_medgen_c1834870_omim_157600_orphanet_238722 MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP27A1 CYP27A1-related disorder cyp27a1_related_disorder . 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTSF Neuronal ceroid lipofuscinosis 13 mondo_mondo_0014147_medgen_c3715049_omim_615362_orphanet_352709_orphanet_79262 MONDO:MONDO:0014147,MedGen:C3715049,OMIM:615362,Orphanet:352709,Orphanet:79262 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CSF2RA Surfactant metabolism dysfunction, pulmonary, 4 mondo_mondo_0010424_medgen_c2677877_omim_300770_orphanet_264675 MONDO:MONDO:0010424,MedGen:C2677877,OMIM:300770,Orphanet:264675 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG6 COG6-congenital disorder of glycosylation mondo_mondo_0013810_medgen_c3553230_omim_614576_orphanet_464443 MONDO:MONDO:0013810,MedGen:C3553230,OMIM:614576,Orphanet:464443 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNTN1 Compton-North congenital myopathy mondo_mondo_0012929_medgen_c2675527_omim_612540_orphanet_210163 MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540,Orphanet:210163 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CFI Age related macular degeneration 13 mondo_mondo_0014189_medgen_c3809523_omim_615439 MONDO:MONDO:0014189,MedGen:C3809523,OMIM:615439 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CARD9 Predisposition to invasive fungal disease due to CARD9 deficiency mondo_mondo_0008905_medgen_c1859353_omim_212050_orphanet_457088 MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050,Orphanet:457088 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1F Congenital stationary night blindness human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C12ORF57 Temtamy syndrome mondo_mondo_0009033_medgen_c1857512_omim_218340_orphanet_1777 MONDO:MONDO:0009033,MedGen:C1857512,OMIM:218340,Orphanet:1777 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAT1 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures mondo_mondo_0020841_medgen_c4748032_omim_618056 MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Developmental and epileptic encephalopathy 99 mondo_mondo_0030473_medgen_c5562018_omim_619606 MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ATP1A3 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome mondo_mondo_0011038_medgen_c1832466_omim_601338_orphanet_1171 MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIPL1 AIPL1-related retinopathy mondo_mondo_0100438_medgen_cn305590 MONDO:MONDO:0100438,MedGen:CN305590 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA1 Tangier disease mondo_mondo_0008783_medgen_c0039292_omim_205400_orphanet_31150 MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150 22 22 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence XPC Xeroderma pigmentosum mondo_mondo_0019600_medgen_c0043346_orphanet_910 MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UROS Cutaneous porphyria mondo_mondo_0009902_medgen_c5886774_omim_263700_orphanet_79277 MONDO:MONDO:0009902,MedGen:C5886774,OMIM:263700,Orphanet:79277 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBR1 Johanson-Blizzard syndrome mondo_mondo_0009479_medgen_c0175692_omim_243800_orphanet_2315 MONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800,Orphanet:2315 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTPA Ataxia with isolated vitamin E deficiency ataxia_with_isolated_vitamin_e_deficiency . 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Intellectual developmental disorder, autosomal dominant 63, with macrocephaly mondo_mondo_0032939_medgen_c5394205_omim_618825 MONDO:MONDO:0032939,MedGen:C5394205,OMIM:618825 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIO Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence TRIM32 Bardet-Biedl syndrome 11 mondo_mondo_0014439_medgen_c1859569_omim_615988_orphanet_110 MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TPM3 Congenital myopathy with fiber type disproportion mondo_mondo_0009711_medgen_c0546264_orphanet_2020 MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TNNT2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TIMM8A Deafness dystonia syndrome mondo_mondo_0010578_medgen_c0796074_omim_304700_orphanet_52368 MONDO:MONDO:0010578,MedGen:C0796074,OMIM:304700,Orphanet:52368 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TCAP Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TBX19 Congenital isolated adrenocorticotropic hormone deficiency human_phenotype_ontology_hp_0011748_mondo_mondo_0008720_medgen_c0342388_omim_201400_orphanet_199296 Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TARDBP Amyotrophic lateral sclerosis type 10 mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TANC2 Intellectual developmental disorder with autistic features and language delay, with or without seizures mondo_mondo_0030051_medgen_c5394447_omim_618906 MONDO:MONDO:0030051,MedGen:C5394447,OMIM:618906 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STUB1 Spinocerebellar ataxia 48 mondo_mondo_0032526_medgen_c4748158_omim_618093_orphanet_631103 MONDO:MONDO:0032526,MedGen:C4748158,OMIM:618093,Orphanet:631103 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy mondo_mondo_0012611_medgen_c1970203_omim_611087_orphanet_500533 MONDO:MONDO:0012611,MedGen:C1970203,OMIM:611087,Orphanet:500533 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPI1 Agammaglobulinemia human_phenotype_ontology_hp_0004432_human_phenotype_ontology_hp_0008328_mondo_mondo_0015977_mesh_d000361_medgen_c0001768_omim_ps601495_orphanet_183669 Human_Phenotype_Ontology:HP:0004432,Human_Phenotype_Ontology:HP:0008328,MONDO:MONDO:0015977,MeSH:D000361,MedGen:C0001768,OMIM:PS601495,Orphanet:183669 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC34A1 Hypophosphatemic nephrolithiasis/osteoporosis 1 mondo_mondo_0012850_medgen_c2676786_omim_612286_orphanet_244305 MONDO:MONDO:0012850,MedGen:C2676786,OMIM:612286,Orphanet:244305 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SLC25A13 Citrullinemia type II mondo_mondo_0016603_medgen_c1863844_orphanet_247585 MONDO:MONDO:0016603,MedGen:C1863844,Orphanet:247585 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SIGMAR1 Autosomal recessive distal spinal muscular atrophy 2 mondo_mondo_0011585_medgen_c1854023_omim_605726_orphanet_139552 MONDO:MONDO:0011585,MedGen:C1854023,OMIM:605726,Orphanet:139552 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SETBP1 Schinzel-Giedion syndrome mondo_mondo_0010010_medgen_c0265227_omim_269150_orphanet_798 MONDO:MONDO:0010010,MedGen:C0265227,OMIM:269150,Orphanet:798 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1B Pseudohypoaldosteronism, type IB2, autosomal recessive mondo_mondo_0859317_medgen_c5774255_omim_620125 MONDO:MONDO:0859317,MedGen:C5774255,OMIM:620125 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SBF2 Charcot-Marie-Tooth disease type 4B2 mondo_mondo_0011475_medgen_c1858278_omim_604563_orphanet_99956 MONDO:MONDO:0011475,MedGen:C1858278,OMIM:604563,Orphanet:99956 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RLIG1 Bardet-Biedl syndrome 14 mondo_mondo_0014442_medgen_c2673874_omim_615991_orphanet_110 MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAF1 Noonan syndrome 5 mondo_mondo_0012690_medgen_c1969057_omim_611553_orphanet_648 MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553,Orphanet:648 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PUS1 Myopathy, lactic acidosis, and sideroblastic anemia mondo_mondo_0000863_medgen_c1838103_omim_ps600462_orphanet_2598 MONDO:MONDO:0000863,MedGen:C1838103,OMIM:PS600462,Orphanet:2598 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRR12 Neuroocular syndrome 1 mondo_mondo_0971007_medgen_c5925133_omim_619539_orphanet_659904 MONDO:MONDO:0971007,MedGen:C5925133,OMIM:619539,Orphanet:659904 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PHF3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PCSK1 Obesity due to prohormone convertase I deficiency mondo_mondo_0010961_medgen_c1833053_omim_600955_orphanet_71528 MONDO:MONDO:0010961,MedGen:C1833053,OMIM:600955,Orphanet:71528 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAX9 Hypodontia human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PAK1 Intellectual developmental disorder with macrocephaly, seizures, and speech delay mondo_mondo_0032568_medgen_c4748428_omim_618158 MONDO:MONDO:0032568,MedGen:C4748428,OMIM:618158 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OXCT1 Succinyl-CoA acetoacetate transferase deficiency mondo_mondo_0009492_medgen_c0342792_omim_245050_orphanet_832 MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NPHP3 NPHP3-related disorder nphp3_related_disorder MedGen:CN379163 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NONO Syndromic X-linked intellectual disability 34 mondo_mondo_0010501_medgen_c4225417_omim_300967_orphanet_466791 MONDO:MONDO:0010501,MedGen:C4225417,OMIM:300967,Orphanet:466791 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NLRP7 Hydatidiform mole, recurrent, 1 mondo_mondo_0009273_medgen_c3463897_omim_231090_orphanet_254688_orphanet_99927 MONDO:MONDO:0009273,MedGen:C3463897,OMIM:231090,Orphanet:254688,Orphanet:99927 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NEK8 Renal-hepatic-pancreatic dysplasia 2 mondo_mondo_0014174_medgen_c3809434_omim_615415 MONDO:MONDO:0014174,MedGen:C3809434,OMIM:615415 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MYORG Basal ganglia calcification, idiopathic, 7, autosomal recessive mondo_mondo_0032673_medgen_c5193025_omim_618317 MONDO:MONDO:0032673,MedGen:C5193025,OMIM:618317 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MAP2K1 RASopathy mondo_mondo_0021060_medgen_c5555857_orphanet_536391 MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Worth disease mondo_mondo_0007764_medgen_c0432273_omim_144750_orphanet_2790 MONDO:MONDO:0007764,MedGen:C0432273,OMIM:144750,Orphanet:2790 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LRP5 Polycystic liver disease 4 with or without kidney cysts mondo_mondo_0044327_medgen_c4693479_omim_617875 MONDO:MONDO:0044327,MedGen:C4693479,OMIM:617875 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence INPP5E Joubert syndrome 1 mondo_mondo_0008944_medgen_c4551568_omim_213300 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HPDL Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities mondo_mondo_0033613_medgen_c5436628_omim_619026_orphanet_210141_orphanet_641353 MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GRK1 Oguchi disease-2 mondo_mondo_0013259_medgen_c3150678_omim_613411_orphanet_75382 MONDO:MONDO:0013259,MedGen:C3150678,OMIM:613411,Orphanet:75382 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPSM2 Chudley-McCullough syndrome mondo_mondo_0011411_medgen_c1858695_omim_604213_orphanet_314597 MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GPLD1 Succinate-semialdehyde dehydrogenase deficiency mondo_mondo_0010083_medgen_c0268631_omim_271980_orphanet_22 MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980,Orphanet:22 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GNB5 Gnb5-related intellectual disability-cardiac arrhythmia syndrome mondo_mondo_0014953_medgen_c5568877_omim_617173_orphanet_542306 MONDO:MONDO:0014953,MedGen:C5568877,OMIM:617173,Orphanet:542306 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLI3 Polydactyly, postaxial, type A1 mondo_mondo_0008266_medgen_c4282400_omim_174200 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GBA2 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALE Thrombocytopenia 13, syndromic mondo_mondo_0958333_medgen_c5935599_omim_620776 MONDO:MONDO:0958333,MedGen:C5935599,OMIM:620776 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FGA Familial visceral amyloidosis, Ostertag type mondo_mondo_0007099_medgen_c0268389_omim_105200_orphanet_85450 MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence F7 Myocardial infarction, susceptibility to mondo_mondo_0012039_medgen_c1832662_omim_608446 MONDO:MONDO:0012039,MedGen:C1832662,OMIM:608446 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ETV6 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPB41 Elliptocytosis 1 mondo_mondo_0012731_medgen_c2678497_omim_611804_orphanet_288 MONDO:MONDO:0012731,MedGen:C2678497,OMIM:611804,Orphanet:288 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ENPP1 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation mondo_mondo_0014811_medgen_c4225172_omim_616875 MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EEF1A2 Developmental and epileptic encephalopathy, 33 mondo_mondo_0014625_medgen_c4225337_omim_616409_orphanet_442835 MONDO:MONDO:0014625,MedGen:C4225337,OMIM:616409,Orphanet:442835 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DHFR Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DGKE Immunoglobulin-mediated membranoproliferative glomerulonephritis mondo_mondo_0014005_medgen_c3554330_omim_615008_orphanet_329903 MONDO:MONDO:0014005,MedGen:C3554330,OMIM:615008,Orphanet:329903 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CYP4V2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CTNND1 Blepharocheilodontic syndrome 2 mondo_mondo_0040503_medgen_c4540127_omim_617681 MONDO:MONDO:0040503,MedGen:C4540127,OMIM:617681 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ8B Nephrotic syndrome, type 9 mondo_mondo_0014257_medgen_c3809965_omim_615573_orphanet_656 MONDO:MONDO:0014257,MedGen:C3809965,OMIM:615573,Orphanet:656 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ6 Familial steroid-resistant nephrotic syndrome with sensorineural deafness mondo_mondo_0013836_medgen_c3553349_omim_614650_orphanet_280406 MONDO:MONDO:0013836,MedGen:C3553349,OMIM:614650,Orphanet:280406 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COQ2 Coenzyme Q10 deficiency, primary, 1 mondo_mondo_0011829_medgen_c3551954_omim_607426_orphanet_255249 MONDO:MONDO:0011829,MedGen:C3551954,OMIM:607426,Orphanet:255249 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COASY Neurodegeneration with brain iron accumulation 6 mondo_mondo_0014290_medgen_c4517377_omim_615643_orphanet_397725 MONDO:MONDO:0014290,MedGen:C4517377,OMIM:615643,Orphanet:397725 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM4 Jalili syndrome mondo_mondo_0009007_medgen_c3495589_omim_217080_orphanet_1873 MONDO:MONDO:0009007,MedGen:C3495589,OMIM:217080,Orphanet:1873 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNNM2 Hypomagnesemia, seizures, and intellectual disability 1 mondo_mondo_0020787_medgen_c4225333_omim_616418_orphanet_34527 MONDO:MONDO:0020787,MedGen:C4225333,OMIM:616418,Orphanet:34527 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD8 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CHD3 Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP250 Cone-rod dystrophy and hearing loss 2 mondo_mondo_0020780_medgen_c5193051_omim_618358 MONDO:MONDO:0020780,MedGen:C5193051,OMIM:618358 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CAST Obesity due to prohormone convertase I deficiency mondo_mondo_0010961_medgen_c1833053_omim_600955_orphanet_71528 MONDO:MONDO:0010961,MedGen:C1833053,OMIM:600955,Orphanet:71528 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Noonan syndrome 7 mondo_mondo_0013379_medgen_c3150970_omim_613706_orphanet_648 MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706,Orphanet:648 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BRAF Noonan syndrome mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence BBS4 BBS4-related disorder bbs4_related_disorder . 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASTN2 Bardet-Biedl syndrome 11 mondo_mondo_0014439_medgen_c1859569_omim_615988_orphanet_110 MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ASAH1 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome mondo_mondo_0008045_medgen_c1834569_omim_159950_orphanet_2590 MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950,Orphanet:2590 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARMC5 ACTH-independent macronodular adrenal hyperplasia 2 mondo_mondo_0014416_medgen_c4014803_omim_615954_orphanet_189427 MONDO:MONDO:0014416,MedGen:C4014803,OMIM:615954,Orphanet:189427 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARCN1 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay mondo_mondo_0014948_medgen_c4310686_omim_617164_orphanet_659702 MONDO:MONDO:0014948,MedGen:C4310686,OMIM:617164,Orphanet:659702 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4M1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP4E1 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ANK2 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AMHR2 Persistent Mullerian duct syndrome mondo_mondo_0009857_medgen_c1849930_omim_261550_orphanet_2856 MONDO:MONDO:0009857,MedGen:C1849930,OMIM:261550,Orphanet:2856 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AIP Somatotroph adenoma mondo_mondo_0007052_medgen_c4538355_omim_102200_orphanet_314777_orphanet_963 MONDO:MONDO:0007052,MedGen:C4538355,OMIM:102200,Orphanet:314777,Orphanet:963 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ABHD5 Triglyceride storage disease with ichthyosis mondo_mondo_0010155_medgen_c0268238_omim_275630_orphanet_98907 MONDO:MONDO:0010155,MedGen:C0268238,OMIM:275630,Orphanet:98907 21 21 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ZC4H2 Wieacker-Wolff syndrome, female-restricted mondo_mondo_0026762_medgen_c5393303_omim_301041 MONDO:MONDO:0026762,MedGen:C5393303,OMIM:301041 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WT1 WT1-related disorder wt1_related_disorder MedGen:CN377814 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence WDR74 RNU2-2 related disorder rnu2_2_related_disorder . 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence VIPAS39 Arthrogryposis, renal dysfunction, and cholestasis 2 mondo_mondo_0013255_medgen_c3150672_omim_613404_orphanet_2697 MONDO:MONDO:0013255,MedGen:C3150672,OMIM:613404,Orphanet:2697 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence UBAP1 Spastic paraplegia 80, autosomal dominant mondo_mondo_0032737_medgen_c5193084_omim_618418_orphanet_631068 MONDO:MONDO:0032737,MedGen:C5193084,OMIM:618418,Orphanet:631068 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TTC14 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TSPEAR Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis mondo_mondo_0032584_medgen_c4748560_omim_618180_orphanet_685067 MONDO:MONDO:0032584,MedGen:C4748560,OMIM:618180,Orphanet:685067 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TOMT Autosomal recessive nonsyndromic hearing loss 63 mondo_mondo_0012670_medgen_c1969621_omim_611451_orphanet_90636 MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence TEK Multiple cutaneous and mucosal venous malformations mondo_mondo_0010842_medgen_c1838437_omim_600195_orphanet_2451 MONDO:MONDO:0010842,MedGen:C1838437,OMIM:600195,Orphanet:2451 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SRRM2 Neurodevelopmental disorder mondo_mondo_0700092_mesh_d065886_medgen_c1535926 MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SPG7 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCNN1B Liddle syndrome 1 mondo_mondo_0020607_medgen_cn031472_omim_177200_orphanet_526 MONDO:MONDO:0020607,MedGen:CN031472,OMIM:177200,Orphanet:526 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SCARB2 Progressive myoclonic epilepsy mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence SATB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RP2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RNU2-2 RNU2-2 related disorder rnu2_2_related_disorder . 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RET Pheochromocytoma human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAC1 Intellectual disability, autosomal dominant 48 mondo_mondo_0030913_medgen_c4540321_omim_617751_orphanet_500159 MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RAB3GAP2 Warburg micro syndrome 2 mondo_mondo_0013641_medgen_c3280214_omim_614225_orphanet_2510 MONDO:MONDO:0013641,MedGen:C3280214,OMIM:614225,Orphanet:2510 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PSAP Combined PSAP deficiency mondo_mondo_0012719_medgen_c2673635_omim_611721_orphanet_139406 MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PRRT2 Infantile convulsions and choreoathetosis mondo_mondo_0011178_medgen_c1865926_omim_602066_orphanet_31709 MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PROC Thrombophilia due to protein C deficiency, autosomal recessive mondo_mondo_0012860_medgen_c2676759_omim_612304_orphanet_745 MONDO:MONDO:0012860,MedGen:C2676759,OMIM:612304,Orphanet:745 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPT1 Neuronal ceroid lipofuscinosis mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PPP2CA Houge-Janssens syndrome 3 mondo_mondo_0032697_medgen_c5193048_omim_618354 MONDO:MONDO:0032697,MedGen:C5193048,OMIM:618354 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PLOD2 Bruck syndrome 2 mondo_mondo_0012217_medgen_c1836602_omim_609220_orphanet_2771 MONDO:MONDO:0012217,MedGen:C1836602,OMIM:609220,Orphanet:2771 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence PEX19 Peroxisome biogenesis disorder 12A (Zellweger) mondo_mondo_0013951_medgen_c3554002_omim_614886_orphanet_912 MONDO:MONDO:0013951,MedGen:C3554002,OMIM:614886,Orphanet:912 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence OTOG Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence NDUFS1 Mitochondrial complex I deficiency, nuclear type 5 mondo_mondo_0032610_medgen_c4748754_omim_618226 MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence NARS2 Combined oxidative phosphorylation defect type 24 mondo_mondo_0014547_medgen_c4015643_omim_616239_orphanet_444458 MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence MPZ Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence LINS1 Intellectual disability, autosomal recessive 27 mondo_mondo_0013702_medgen_c3280538_omim_614340_orphanet_88616 MONDO:MONDO:0013702,MedGen:C3280538,OMIM:614340,Orphanet:88616 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KRT6A Pachyonychia congenita 3 mondo_mondo_0014324_medgen_c3714948_omim_615726_orphanet_2309 MONDO:MONDO:0014324,MedGen:C3714948,OMIM:615726,Orphanet:2309 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KLHL3 Pseudohypoaldosteronism type 2A mondo_mondo_0007772_medgen_c1840389_omim_145260_orphanet_757_orphanet_88938 MONDO:MONDO:0007772,MedGen:C1840389,OMIM:145260,Orphanet:757,Orphanet:88938 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KCNJ11 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source single_exon_hotspot_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence KAT6A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITPA Developmental and epileptic encephalopathy, 35 mondo_mondo_0014719_medgen_c4225256_omim_616647_orphanet_457375 MONDO:MONDO:0014719,MedGen:C4225256,OMIM:616647,Orphanet:457375 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA3 Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome mondo_mondo_0013881_medgen_c4518785_omim_614748_orphanet_306504 MONDO:MONDO:0013881,MedGen:C4518785,OMIM:614748,Orphanet:306504 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IFT172 IFT172-related disorder ift172_related_disorder . 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence IBA57 Hereditary spastic paraplegia 74 mondo_mondo_0014644_medgen_c5568837_omim_616451_orphanet_468661 MONDO:MONDO:0014644,MedGen:C5568837,OMIM:616451,Orphanet:468661 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HTRA1 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 mondo_mondo_0014768_medgen_c4225211_omim_616779 MONDO:MONDO:0014768,MedGen:C4225211,OMIM:616779 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence HSPG2 Lethal Kniest-like syndrome mondo_mondo_0009140_medgen_c1857100_omim_224410_orphanet_1865 MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence GSS Glutathione synthetase deficiency without 5-oxoprolinuria mondo_mondo_0009284_medgen_c1856399_omim_231900_orphanet_289849_orphanet_32 MONDO:MONDO:0009284,MedGen:C1856399,OMIM:231900,Orphanet:289849,Orphanet:32 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GP1BA Pseudo von Willebrand disease mondo_mondo_0008332_medgen_c1280798_omim_177820_orphanet_52530 MONDO:MONDO:0008332,MedGen:C1280798,OMIM:177820,Orphanet:52530 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLRB Hyperekplexia 2 mondo_mondo_0013828_medgen_c3553291_omim_614619_orphanet_3197 MONDO:MONDO:0013828,MedGen:C3553291,OMIM:614619,Orphanet:3197 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLE1 Lethal congenital contracture syndrome 1 mondo_mondo_0009670_medgen_c1854664_omim_253310_orphanet_1486 MONDO:MONDO:0009670,MedGen:C1854664,OMIM:253310,Orphanet:1486 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GLDN Lethal congenital contracture syndrome 11 mondo_mondo_0014965_medgen_c4310670_omim_617194 MONDO:MONDO:0014965,MedGen:C4310670,OMIM:617194 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence GALK1 Junctional epidermolysis bullosa with pyloric atresia mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLT4 Hereditary lymphedema type I mondo_mondo_0007919_medgen_c1704423_omim_153100_orphanet_79452 MONDO:MONDO:0007919,MedGen:C1704423,OMIM:153100,Orphanet:79452 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FLNB Larsen syndrome mondo_mondo_0007875_medgen_c0175778_omim_150250_orphanet_503 MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250,Orphanet:503 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence FANCB Fanconi anemia complementation group B mondo_mondo_0010351_medgen_c1845292_omim_300514_orphanet_84 MONDO:MONDO:0010351,MedGen:C1845292,OMIM:300514,Orphanet:84 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence EPCAM Congenital diarrhea 5 with tufting enteropathy mondo_mondo_0013184_medgen_c2750737_omim_613217_orphanet_92050 MONDO:MONDO:0013184,MedGen:C2750737,OMIM:613217,Orphanet:92050 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC1H1 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures mondo_mondo_0008026_medgen_c5780022_omim_158600_orphanet_209341_orphanet_363447 MONDO:MONDO:0008026,MedGen:C5780022,OMIM:158600,Orphanet:209341,Orphanet:363447 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPYS Dihydropyrimidinase deficiency mondo_mondo_0009111_medgen_c0342803_omim_222748_orphanet_38874 MONDO:MONDO:0009111,MedGen:C0342803,OMIM:222748,Orphanet:38874 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DPM1 Congenital disorder of glycosylation type 1E mondo_mondo_0012123_medgen_c1837396_omim_608799_orphanet_79322 MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799,Orphanet:79322 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence DNAJC19 3-methylglutaconic aciduria type 5 mondo_mondo_0012435_medgen_c1857776_omim_610198_orphanet_66634 MONDO:MONDO:0012435,MedGen:C1857776,OMIM:610198,Orphanet:66634 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL18A1 Knobloch syndrome 1 mondo_mondo_0800167_medgen_c4551775_omim_267750 MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL13A1 Congenital myasthenic syndrome 19 mondo_mondo_0014745_medgen_c4225235_omim_616720_orphanet_590 MONDO:MONDO:0014745,MedGen:C4225235,OMIM:616720,Orphanet:590 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A2 Autosomal dominant nonsyndromic hearing loss 13 mondo_mondo_0011159_medgen_c1866095_omim_601868_orphanet_90635 MONDO:MONDO:0011159,MedGen:C1866095,OMIM:601868,Orphanet:90635 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source large_gene_or_donor_burden_stress_case donor_burden_stress 0 record-level condition-associated architecture; not patient coverage or disease prevalence COG4 COG4-congenital disorder of glycosylation mondo_mondo_0013281_medgen_c4303552_omim_613489_orphanet_263501 MONDO:MONDO:0013281,MedGen:C4303552,OMIM:613489,Orphanet:263501 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CIITA MHC class II deficiency 1 mondo_mondo_0971005_medgen_cn377826_omim_209920 MONDO:MONDO:0971005,MedGen:CN377826,OMIM:209920 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP78 Cone-rod dystrophy and hearing loss 1 mondo_mondo_0020778_medgen_c5193018_omim_617236 MONDO:MONDO:0020778,MedGen:C5193018,OMIM:617236 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP41 Joubert syndrome 15 mondo_mondo_0013763_medgen_c3280897_omim_614464_orphanet_475 MONDO:MONDO:0013763,MedGen:C3280897,OMIM:614464,Orphanet:475 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CEP135 Microcephaly 8, primary, autosomal recessive mondo_mondo_0013849_medgen_c3553414_omim_614673_orphanet_2512 MONDO:MONDO:0013849,MedGen:C3553414,OMIM:614673,Orphanet:2512 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CDC73 Hyperparathyroidism 2 with jaw tumors mondo_mondo_0007768_medgen_c1704981_omim_145001_orphanet_99880 MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001,Orphanet:99880 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASQ2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_adjacent_exon_block_opportunity local_compact_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence CASP8 Autoimmune lymphoproliferative syndrome type 2B mondo_mondo_0011804_medgen_c1846545_omim_607271_orphanet_275517 MONDO:MONDO:0011804,MedGen:C1846545,OMIM:607271,Orphanet:275517 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence C6 Complement component 6 deficiency mondo_mondo_0012908_medgen_c2676232_omim_612446 MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AVPR2 Nephrogenic diabetes insipidus human_phenotype_ontology_hp_0009806_mondo_mondo_0016383_medgen_c0162283_orphanet_223 Human_Phenotype_Ontology:HP:0009806,MONDO:MONDO:0016383,MedGen:C0162283,Orphanet:223 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1A Malignant tumor of urinary bladder mondo_mondo_0001187_medgen_c0005684_omim_109800 MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AP3B2 Developmental and epileptic encephalopathy, 48 mondo_mondo_0015000_medgen_c4310637_omim_617276 MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADNP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADCY5 Dyskinesia with orofacial involvement, autosomal dominant mondo_mondo_0800028_medgen_c1847627_omim_606703_orphanet_324588 MONDO:MONDO:0800028,MedGen:C1847627,OMIM:606703,Orphanet:324588 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence ADAMTSL4 Ectopia lentis et pupillae mondo_mondo_0009153_medgen_c1644196_omim_225200_orphanet_1885 MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence AARS2 Leukoencephalopathy, progressive, with ovarian failure mondo_mondo_0014387_medgen_c4014588_omim_615889_orphanet_99853 MONDO:MONDO:0014387,MedGen:C4014588,OMIM:615889,Orphanet:99853 20 20 condition_architecture_interpretable condition_record_group_no_unit_coverage_index condition group is available; unit-level coverage index was not available in the selected source compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 0 record-level condition-associated architecture; not patient coverage or disease prevalence RMRP Anauxetic dysplasia mondo_mondo_0011773_medgen_c1846796_omim_ps607095_orphanet_93347 MONDO:MONDO:0011773,MedGen:C1846796,OMIM:PS607095,Orphanet:93347 233 233 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution RMRP:single_exon:E1 0.845494 270 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 1 record-level condition-associated architecture; not patient coverage or disease prevalence RMRP Metaphyseal chondrodysplasia, McKusick type mondo_mondo_0009595_medgen_c0220748_omim_250250_orphanet_175 MONDO:MONDO:0009595,MedGen:C0220748,OMIM:250250,Orphanet:175 186 186 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution RMRP:single_exon:E1 0.876344 270 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 1 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 alpha Thalassemia mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 157 157 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA2:single_exon:E2 0.426752 205 HBA2:exon_block:E1-E3 0.955414 835 HBA2:boundary_CDS_coverage:after_E1 0.700637 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 alpha Thalassemia mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 118 118 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA1:single_exon:E2 0.398305 205 HBA1:exon_block:E1-E3 0.915254 843 HBA1:boundary_CDS_coverage:after_E1 0.618644 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Erythrocytosis, familial, 7 mondo_mondo_0054802_medgen_c4693823_omim_617981 MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981 35 35 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA1:single_exon:E2 0.371429 205 HBA1:exon_block:E1-E3 0.942857 843 HBA1:boundary_CDS_coverage:after_E1 0.628571 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence RMRP Metaphyseal dysplasia without hypotrichosis mondo_mondo_0009601_medgen_c1834821_omim_250460 MONDO:MONDO:0009601,MedGen:C1834821,OMIM:250460 29 29 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution RMRP:single_exon:E1 0.931034 270 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 1 record-level condition-associated architecture; not patient coverage or disease prevalence RMRP Anauxetic dysplasia 1 mondo_mondo_0054560_medgen_c4551965_omim_607095_orphanet_93347 MONDO:MONDO:0054560,MedGen:C4551965,OMIM:607095,Orphanet:93347 27 27 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution RMRP:single_exon:E1 0.925926 270 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 1 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Erythrocytosis, familial, 7 mondo_mondo_0054802_medgen_c4693823_omim_617981 MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981 27 27 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA2:single_exon:E3 0.407407 239 HBA2:exon_block:E1-E3 1.000000 835 HBA2:boundary_CDS_coverage:after_E1 0.666667 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence SMN1 Werdnig-Hoffmann disease mondo_mondo_0009669_medgen_c5848259_omim_253300_orphanet_83330 MONDO:MONDO:0009669,MedGen:C5848259,OMIM:253300,Orphanet:83330 25 25 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 0 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Heinz body anemia human_phenotype_ontology_hp_0005511_mondo_mondo_0007705_medgen_c0700299_omim_140700_orphanet_178330 Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330 25 25 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA2:single_exon:E3 0.440000 239 HBA2:exon_block:E1-E3 1.000000 835 HBA2:boundary_CDS_coverage:after_E1 0.640000 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Heinz body anemia human_phenotype_ontology_hp_0005511_mondo_mondo_0007705_medgen_c0700299_omim_140700_orphanet_178330 Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330 25 25 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA1:single_exon:E1 0.400000 132 HBA1:exon_block:E1-E3 0.920000 843 HBA1:boundary_CDS_coverage:after_E1 0.520000 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBA2 Hemoglobin H disease mondo_mondo_0013512_medgen_c3161174_omim_613978_orphanet_93616 MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616 23 23 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA2:single_exon:E3 0.434783 239 HBA2:exon_block:E1-E3 1.000000 835 HBA2:boundary_CDS_coverage:after_E1 0.608696 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Methemoglobinemia, alpha type mondo_mondo_0020835_medgen_c4693798_omim_617973 MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973 23 23 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA1:single_exon:E1 0.434783 132 HBA1:exon_block:E1-E3 1.000000 843 HBA1:boundary_CDS_coverage:after_E1 0.565217 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBA1 Hemoglobin H disease mondo_mondo_0013512_medgen_c3161174_omim_613978_orphanet_93616 MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616 23 23 condition_architecture_interpretable condition_mechanism_complex_limitation gene-level mechanism-complex limitation; condition facet retained as caution HBA1:single_exon:E1 0.434783 132 HBA1:exon_block:E1-E3 0.956522 843 HBA1:boundary_CDS_coverage:after_E1 0.521739 331 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation 8 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Fabry disease human_phenotype_ontology_hp_0001071_mondo_mondo_0010526_medgen_c0002986_omim_301500_orphanet_324 Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324 1089 1089 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GLA:single_exon:E6 0.186410 198 GLA:exon_block:E3-E7 0.724518 4007 GLA:boundary_CDS_coverage:after_E1 0.841139 1093 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 27 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2 mondo_mondo_0010880_medgen_c1838163_omim_600376_orphanet_774 MONDO:MONDO:0010880,MedGen:C1838163,OMIM:600376,Orphanet:774 444 444 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit ACVRL1:single_exon:E7 0.238739 276 ACVRL1:exon_block:E3-E7 0.673423 2402 ACVRL1:boundary_CDS_coverage:after_E1 0.997748 1509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Niemann-Pick disease, type A mondo_mondo_0009756_medgen_c0268242_omim_257200_orphanet_77292 MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292 367 367 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SMPD1:single_exon:E2 0.389646 773 SMPD1:exon_block:E2-E6 0.869210 3613 SMPD1:boundary_CDS_coverage:after_E1 0.869210 1575 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 22 record-level condition-associated architecture; not patient coverage or disease prevalence ARSA Metachromatic leukodystrophy mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 346 346 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit ARSA:single_exon:E2 0.208092 241 ARSA:exon_block:E1-E5 0.725434 1999 ARSA:boundary_CDS_coverage:after_E1 0.907514 1303 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Mucopolysaccharidosis type 1 mondo_mondo_0001586_medgen_c0023786_orphanet_579 MONDO:MONDO:0001586,MedGen:C0023786,Orphanet:579 334 334 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit IDUA:single_exon:E6 0.119760 203 IDUA:exon_block:E5-E9 0.508982 1477 IDUA:boundary_CDS_coverage:after_E1 0.919162 1801 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence GCDH Glutaric aciduria, type 1 mondo_mondo_0009281_medgen_c0268595_omim_231670_orphanet_25 MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25 322 322 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GCDH:single_exon:E11 0.198758 161 GCDH:exon_block:E7-E11 0.602484 1872 GCDH:boundary_CDS_coverage:after_E1 0.993789 1314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Gaucher disease mondo_mondo_0018150_medgen_c0017205_orphanet_355 MONDO:MONDO:0018150,MedGen:C0017205,Orphanet:355 302 302 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GBA1:single_exon:E8 0.201987 225 GBA1:exon_block:E5-E9 0.715232 2970 GBA1:boundary_CDS_coverage:after_E1 0.993377 1581 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Primary hyperoxaluria, type I mondo_mondo_0009823_medgen_c0268164_omim_259900_orphanet_416_orphanet_93598 MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598 290 290 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit AGXT:single_exon:E2 0.193103 193 AGXT:exon_block:E1-E5 0.558621 4226 AGXT:boundary_CDS_coverage:after_E1 0.886207 1011 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence HBB beta Thalassemia mondo_mondo_0019402_medgen_c0005283_orphanet_848 MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848 285 285 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E2 0.392982 223 HBB:exon_block:E1-E3 0.866667 1608 HBB:boundary_CDS_coverage:after_E1 0.585965 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Niemann-Pick disease, type B mondo_mondo_0011871_medgen_c0268243_omim_607616_orphanet_77293 MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293 278 278 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SMPD1:single_exon:E2 0.374101 773 SMPD1:exon_block:E2-E6 0.859712 3613 SMPD1:boundary_CDS_coverage:after_E1 0.859712 1575 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 22 record-level condition-associated architecture; not patient coverage or disease prevalence GALT Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase mondo_mondo_0009258_medgen_c0268151_omim_230400_orphanet_352_orphanet_79239 MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239 271 271 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GALT:single_exon:E7 0.143911 123 GALT:exon_block:E6-E10 0.564576 1450 GALT:boundary_CDS_coverage:after_E1 0.933579 1055 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Anemia, nonspherocytic hemolytic, due to G6PD deficiency mondo_mondo_0010480_medgen_c2720289_omim_300908_orphanet_466026 MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026 226 226 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit G6PD:single_exon:E10 0.225664 236 G6PD:exon_block:E6-E10 0.584071 1930 G6PD:boundary_CDS_coverage:after_E1 0.991150 1545 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Congenital myasthenic syndrome 4A mondo_mondo_0011600_medgen_c4225413_omim_605809_orphanet_590 MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590 223 223 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit CHRNE:single_exon:E10 0.179372 187 CHRNE:exon_block:E7-E11 0.605381 2190 CHRNE:boundary_CDS_coverage:after_E1 0.977578 1433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 52 record-level condition-associated architecture; not patient coverage or disease prevalence FOXG1 FOXG1 disorder mondo_mondo_0100040_medgen_c3150705_omim_613454_orphanet_3095_orphanet_561854 MONDO:MONDO:0100040,MedGen:C3150705,OMIM:613454,Orphanet:3095,Orphanet:561854 214 214 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit FOXG1:single_exon:E1 0.995327 3491 single_exon_hotspot_opportunity local_compact_architecture 1 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 197 197 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit ACVRL1:single_exon:E3 0.233503 252 ACVRL1:exon_block:E3-E7 0.690355 2402 ACVRL1:boundary_CDS_coverage:after_E1 0.994924 1509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Bardet-Biedl syndrome 10 mondo_mondo_0014438_medgen_c1859568_omim_615987_orphanet_110 MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110 194 194 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit BBS10:single_exon:E2 0.876289 3314 BBS10:exon_block:E1-E2 1.000000 3942 BBS10:boundary_CDS_coverage:after_E1 0.876289 1972 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 190 190 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GCK:single_exon:E9 0.189474 234 GCK:exon_block:E5-E9 0.652632 4568 GCK:boundary_CDS_coverage:after_E1 0.994737 1350 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence GALT Galactosemia human_phenotype_ontology_hp_0004919_mondo_mondo_0018116_medgen_c0016952_omim_ps230400_orphanet_352 Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352 181 181 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GALT:single_exon:E5 0.165746 130 GALT:exon_block:E5-E9 0.541436 1250 GALT:boundary_CDS_coverage:after_E1 0.955801 1055 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Intellectual disability, X-linked 102 mondo_mondo_0010497_medgen_c5393299_omim_300958_orphanet_457260 MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260 177 177 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit DDX3X:single_exon:E13 0.163842 182 DDX3X:exon_block:E10-E14 0.531073 2384 DDX3X:boundary_CDS_coverage:after_E1 0.971751 1941 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 Charcot-Marie-Tooth Neuropathy X charcot_marie_tooth_neuropathy_x MedGen:CN118851 174 174 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GJB1:single_exon:E2 0.982759 1825 GJB1:exon_block:E1-E2 0.994253 2293 GJB1:boundary_CDS_coverage:after_E1 0.982759 849 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 GLUT1 deficiency syndrome 1, autosomal recessive medgen_c3149117 MedGen:C3149117 167 167 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SLC2A1:single_exon:E4 0.227545 241 SLC2A1:exon_block:E3-E7 0.658683 1997 SLC2A1:boundary_CDS_coverage:after_E1 0.970060 1458 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Actin accumulation myopathy mondo_mondo_0008070_medgen_c3711389_omim_161800_orphanet_98904 MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904 164 164 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit ACTA1:single_exon:E3 0.347561 325 ACTA1:exon_block:E2-E6 0.890244 1407 ACTA1:boundary_CDS_coverage:after_E1 1.000000 1131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 26 record-level condition-associated architecture; not patient coverage or disease prevalence BBS10 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 160 160 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit BBS10:single_exon:E2 0.893750 3314 BBS10:exon_block:E1-E2 1.000000 3942 BBS10:boundary_CDS_coverage:after_E1 0.893750 1972 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Long QT syndrome 2 mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 150 150 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit KCNH2:single_exon:E7 0.253333 388 KCNH2:exon_block:E6-E10 0.520000 3998 KCNH2:boundary_CDS_coverage:after_E1 0.966667 3401 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Walker-Warburg congenital muscular dystrophy mondo_mondo_0000171_medgen_c0265221_omim_ps236670_orphanet_899 MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899 145 145 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit FKRP:single_exon:E4 0.993103 3164 FKRP:exon_block:E3-E4 0.993103 10061 FKRP:boundary_CDS_coverage:after_E1 0.993103 1485 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 6 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 Charcot-Marie-Tooth disease X-linked dominant 1 mondo_mondo_0010549_medgen_c0393808_omim_302800_orphanet_101075 MONDO:MONDO:0010549,MedGen:C0393808,OMIM:302800,Orphanet:101075 119 119 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GJB1:single_exon:E2 0.966387 1825 GJB1:exon_block:E1-E2 0.991597 2293 GJB1:boundary_CDS_coverage:after_E1 0.966387 849 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Encephalopathy due to GLUT1 deficiency mondo_mondo_0011724_medgen_c4551966_omim_606777_orphanet_71277 MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777,Orphanet:71277 113 113 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SLC2A1:single_exon:E4 0.203540 241 SLC2A1:exon_block:E3-E7 0.663717 1997 SLC2A1:boundary_CDS_coverage:after_E1 0.964602 1458 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 111 111 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit KCNH2:single_exon:E7 0.468468 388 KCNH2:exon_block:E6-E10 0.702703 3998 KCNH2:boundary_CDS_coverage:after_E1 1.000000 3401 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 Charcot-Marie-Tooth disease mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 106 106 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GJB1:single_exon:E2 0.990566 1825 GJB1:exon_block:E1-E2 1.000000 2293 GJB1:boundary_CDS_coverage:after_E1 0.990566 849 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Erythrocytosis, familial, 6 mondo_mondo_0054801_medgen_c4693822_omim_617980 MONDO:MONDO:0054801,MedGen:C4693822,OMIM:617980 102 102 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E2 0.343137 223 HBB:exon_block:E1-E3 0.872549 1608 HBB:boundary_CDS_coverage:after_E1 0.578431 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Beta-thalassemia HBB/LCRB mondo_mondo_0013517_medgen_cn322236_omim_613985 MONDO:MONDO:0013517,MedGen:CN322236,OMIM:613985 102 102 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.362745 142 HBB:exon_block:E1-E3 0.862745 1608 HBB:boundary_CDS_coverage:after_E1 0.500000 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Autosomal recessive limb-girdle muscular dystrophy type 2I mondo_mondo_0011787_medgen_c1846672_omim_607155_orphanet_34515 MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515 97 97 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit FKRP:single_exon:E4 1.000000 3164 FKRP:exon_block:E3-E4 1.000000 10061 FKRP:boundary_CDS_coverage:after_E1 1.000000 1485 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 6 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 96 96 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit LMNA:single_exon:E6 0.166667 221 LMNA:exon_block:E6-E10 0.531250 1843 LMNA:boundary_CDS_coverage:after_E1 0.854167 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 49 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Mucopolysaccharidosis, MPS-I-H/S mondo_mondo_0011759_medgen_c0086431_omim_607015_orphanet_93476 MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015,Orphanet:93476 95 95 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit IDUA:single_exon:E6 0.168421 203 IDUA:exon_block:E5-E9 0.526316 1477 IDUA:boundary_CDS_coverage:after_E1 0.905263 1801 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 61 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Gaucher disease type I mondo_mondo_0009265_medgen_c1961835_omim_230800_orphanet_355_orphanet_77259 MONDO:MONDO:0009265,MedGen:C1961835,OMIM:230800,Orphanet:355,Orphanet:77259 89 89 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GBA1:single_exon:E9 0.179775 164 GBA1:exon_block:E5-E9 0.685393 2970 GBA1:boundary_CDS_coverage:after_E1 0.977528 1581 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 mondo_mondo_0013157_medgen_c3150413_omim_613153_orphanet_588_orphanet_899 MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899 85 85 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit FKRP:single_exon:E4 1.000000 3164 FKRP:exon_block:E3-E4 1.000000 10061 FKRP:boundary_CDS_coverage:after_E1 1.000000 1485 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 6 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Congenital myasthenic syndrome mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 83 83 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit CHRNE:single_exon:E10 0.204819 187 CHRNE:exon_block:E7-E11 0.674699 2190 CHRNE:boundary_CDS_coverage:after_E1 0.987952 1433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Dominant beta-thalassemia mondo_mondo_0011381_medgen_c1858990_omim_603902_orphanet_231226_orphanet_848 MONDO:MONDO:0011381,MedGen:C1858990,OMIM:603902,Orphanet:231226,Orphanet:848 82 82 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.365854 142 HBB:exon_block:E1-E3 0.841463 1608 HBB:boundary_CDS_coverage:after_E1 0.475610 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBB METHEMOGLOBINEMIA, BETA TYPE medgen_c1840779_omim_617971 MedGen:C1840779,OMIM:617971 75 75 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.386667 142 HBB:exon_block:E1-E3 0.826667 1608 HBB:boundary_CDS_coverage:after_E1 0.440000 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Heinz body anemia human_phenotype_ontology_hp_0005511_mondo_mondo_0007705_medgen_c0700299_omim_140700_orphanet_178330 Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330 74 74 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.405405 142 HBB:exon_block:E1-E3 0.824324 1608 HBB:boundary_CDS_coverage:after_E1 0.418919 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence SMPD1 Sphingomyelin/cholesterol lipidosis mondo_mondo_0001982_medgen_c0028064 MONDO:MONDO:0001982,MedGen:C0028064 73 73 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SMPD1:single_exon:E2 0.424658 773 SMPD1:exon_block:E2-E6 0.917808 3613 SMPD1:boundary_CDS_coverage:after_E1 0.917808 1575 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 22 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Malaria, susceptibility to mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 72 72 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.402778 142 HBB:exon_block:E1-E3 0.819444 1608 HBB:boundary_CDS_coverage:after_E1 0.416667 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hb SS disease mondo_mondo_0011382_medgen_c0002895_omim_603903_orphanet_232_orphanet_275752 MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232,Orphanet:275752 72 72 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.402778 142 HBB:exon_block:E1-E3 0.819444 1608 HBB:boundary_CDS_coverage:after_E1 0.416667 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hereditary persistence of fetal hemoglobin mondo_mondo_0020989_medgen_c0019025_omim_141749 MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749 69 69 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.420290 142 HBB:exon_block:E1-E3 0.826087 1608 HBB:boundary_CDS_coverage:after_E1 0.405797 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Homocystinuria human_phenotype_ontology_hp_0002156_mondo_mondo_0004737_medgen_c0019880 Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880 67 67 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit CBS:single_exon:E5 0.208955 135 CBS:exon_block:E8-E12 0.552239 4832 CBS:boundary_CDS_coverage:after_E1 1.000000 1653 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 71 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Congenital myasthenic syndrome 4C mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 66 66 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit CHRNE:single_exon:E10 0.166667 187 CHRNE:exon_block:E7-E11 0.590909 2190 CHRNE:boundary_CDS_coverage:after_E1 0.984848 1433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 52 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Mucopolysaccharidosis, MPS-I-S mondo_mondo_0011760_medgen_c0026708_omim_607016_orphanet_93474 MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016,Orphanet:93474 64 64 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit IDUA:single_exon:E6 0.140625 203 IDUA:exon_block:E6-E10 0.515625 1479 IDUA:boundary_CDS_coverage:after_E1 0.875000 1801 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 60 record-level condition-associated architecture; not patient coverage or disease prevalence CHRNE Congenital myasthenic syndrome 4B mondo_mondo_0014586_medgen_c4225369_omim_616324_orphanet_590 MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590 62 62 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit CHRNE:single_exon:E10 0.177419 187 CHRNE:exon_block:E8-E12 0.612903 3137 CHRNE:boundary_CDS_coverage:after_E1 0.951613 1433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 52 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 57 57 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit KCNH2:single_exon:E12 0.228070 273 KCNH2:exon_block:E9-E13 0.526316 3093 KCNH2:boundary_CDS_coverage:after_E1 1.000000 3401 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 63 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Trichothiodystrophy 1, photosensitive mondo_mondo_0011125_medgen_c1866504_omim_601675_orphanet_33364 MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364 56 56 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit ERCC2:single_exon:E21 0.160714 144 ERCC2:exon_block:E18-E22 0.500000 1126 ERCC2:boundary_CDS_coverage:after_E1 1.000000 2275 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 100 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Beta zero thalassemia medgen_c0271980 MedGen:C0271980 54 54 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E2 0.425926 223 HBB:exon_block:E1-E3 1.000000 1608 HBB:boundary_CDS_coverage:after_E1 0.611111 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF31 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 52 52 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit PRPF31:single_exon:E7 0.211538 170 PRPF31:exon_block:E7-E11 0.596154 4629 PRPF31:boundary_CDS_coverage:after_E1 0.961538 1497 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 59 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Emery-Dreifuss muscular dystrophy 2, autosomal dominant mondo_mondo_0021569_medgen_c0410190_omim_181350_orphanet_261_orphanet_264 MONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350,Orphanet:261,Orphanet:264 47 47 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit LMNA:single_exon:E6 0.212766 221 LMNA:exon_block:E4-E8 0.574468 2224 LMNA:boundary_CDS_coverage:after_E1 0.851064 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 49 record-level condition-associated architecture; not patient coverage or disease prevalence DDX3X Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 47 47 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit DDX3X:single_exon:E10 0.148936 161 DDX3X:exon_block:E10-E14 0.574468 2384 DDX3X:boundary_CDS_coverage:after_E1 0.978723 1941 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 74 record-level condition-associated architecture; not patient coverage or disease prevalence HBB Hemoglobinopathy mondo_mondo_0044348_medgen_c0019045 MONDO:MONDO:0044348,MedGen:C0019045 44 44 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E2 0.386364 223 HBB:exon_block:E1-E3 0.954545 1608 HBB:boundary_CDS_coverage:after_E1 0.590909 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Gaucher disease type II mondo_mondo_0009266_medgen_c0268250_omim_230900_orphanet_77260 MONDO:MONDO:0009266,MedGen:C0268250,OMIM:230900,Orphanet:77260 44 44 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GBA1:single_exon:E6 0.204545 173 GBA1:exon_block:E6-E10 0.750000 3112 GBA1:boundary_CDS_coverage:after_E1 0.977273 1581 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 45 record-level condition-associated architecture; not patient coverage or disease prevalence AGXT Primary hyperoxaluria mondo_mondo_0002474_medgen_c0020501_omim_ps259900_orphanet_416 MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416 44 44 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit AGXT:single_exon:E1 0.204545 207 AGXT:exon_block:E1-E5 0.659091 4226 AGXT:boundary_CDS_coverage:after_E1 0.795455 1011 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 45 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Childhood onset GLUT1 deficiency syndrome 2 mondo_mondo_0012805_medgen_c1842534_omim_612126_orphanet_98811 MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126,Orphanet:98811 41 41 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SLC2A1:single_exon:E4 0.243902 241 SLC2A1:exon_block:E4-E8 0.707317 1935 SLC2A1:boundary_CDS_coverage:after_E1 0.975610 1458 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence HBB BETA-PLUS-THALASSEMIA medgen_c3841475 MedGen:C3841475 41 41 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E3 0.268293 263 HBB:exon_block:E1-E3 0.658537 1608 HBB:boundary_CDS_coverage:after_E1 0.414634 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Gaucher disease type III mondo_mondo_0009267_medgen_c0268251_omim_231000_orphanet_355_orphanet_77261 MONDO:MONDO:0009267,MedGen:C0268251,OMIM:231000,Orphanet:355,Orphanet:77261 41 41 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GBA1:single_exon:E6 0.219512 173 GBA1:exon_block:E6-E10 0.756098 3112 GBA1:boundary_CDS_coverage:after_E1 0.975610 1581 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 46 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD Malaria, susceptibility to mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 40 40 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit G6PD:single_exon:E6 0.200000 159 G6PD:exon_block:E5-E9 0.650000 2444 G6PD:boundary_CDS_coverage:after_E1 1.000000 1545 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 55 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 39 39 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GUCY2D:single_exon:E13 0.153846 164 GUCY2D:exon_block:E11-E15 0.564103 2400 GUCY2D:boundary_CDS_coverage:after_E1 1.000000 3309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 88 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Gaucher disease perinatal lethal mondo_mondo_0011945_medgen_c1842704_omim_608013_orphanet_85212 MONDO:MONDO:0011945,MedGen:C1842704,OMIM:608013,Orphanet:85212 39 39 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GBA1:single_exon:E9 0.205128 164 GBA1:exon_block:E5-E9 0.769231 2970 GBA1:boundary_CDS_coverage:after_E1 0.974359 1581 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 45 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Parkinson disease, late-onset mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 38 38 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GBA1:single_exon:E6 0.263158 173 GBA1:exon_block:E6-E10 0.789474 3112 GBA1:boundary_CDS_coverage:after_E1 0.973684 1581 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 43 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome mondo_mondo_0009268_medgen_c1856476_omim_231005_orphanet_2072 MONDO:MONDO:0009268,MedGen:C1856476,OMIM:231005,Orphanet:2072 38 38 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GBA1:single_exon:E6 0.236842 173 GBA1:exon_block:E6-E10 0.763158 3112 GBA1:boundary_CDS_coverage:after_E1 0.973684 1581 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 45 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Congenital muscular dystrophy due to LMNA mutation mondo_mondo_0013178_medgen_c2750785_omim_613205_orphanet_157973 MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205,Orphanet:157973 37 37 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit LMNA:single_exon:E6 0.270270 221 LMNA:exon_block:E3-E7 0.567568 2034 LMNA:boundary_CDS_coverage:after_E1 0.756757 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 49 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Muscular dystrophy-dystroglycanopathy type B5 mondo_mondo_0011688_medgen_c1847759_omim_606612 MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612 36 36 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit FKRP:single_exon:E4 1.000000 3164 FKRP:exon_block:E3-E4 1.000000 10061 FKRP:boundary_CDS_coverage:after_E1 1.000000 1485 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 6 record-level condition-associated architecture; not patient coverage or disease prevalence ACTA1 Alpha-actinopathy mondo_mondo_0100084_medgen_cn295279 MONDO:MONDO:0100084,MedGen:CN295279 36 36 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit ACTA1:single_exon:E7 0.361111 398 ACTA1:exon_block:E3-E7 0.916667 1636 ACTA1:boundary_CDS_coverage:after_E1 1.000000 1131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 25 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 Lamellar ichthyosis mondo_mondo_0017778_medgen_c5848247_orphanet_313 MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 32 32 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit TGM1:single_exon:E3 0.218750 189 TGM1:exon_block:E3-E7 0.781250 2809 TGM1:boundary_CDS_coverage:after_E1 1.000000 2451 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 55 record-level condition-associated architecture; not patient coverage or disease prevalence GCK GCK-related disorder gck_related_disorder . 31 31 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GCK:single_exon:E9 0.258065 234 GCK:exon_block:E5-E9 0.612903 4568 GCK:boundary_CDS_coverage:after_E1 0.967742 1350 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence GBA1 Lewy body dementia mondo_mondo_0007488_medgen_c0752347_omim_127750 MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750 30 30 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GBA1:single_exon:E6 0.200000 173 GBA1:exon_block:E6-E10 0.766667 3112 GBA1:boundary_CDS_coverage:after_E1 0.966667 1581 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 43 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Familial partial lipodystrophy, Dunnigan type mondo_mondo_0007906_medgen_c1720860_omim_151660_orphanet_2348 MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660,Orphanet:2348 28 28 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit LMNA:single_exon:E1 0.178571 564 LMNA:exon_block:E4-E8 0.535714 2224 LMNA:boundary_CDS_coverage:after_E1 0.821429 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence G6PD G6PD deficiency mondo_mondo_0005775_medgen_c2939465 MONDO:MONDO:0005775,MedGen:C2939465 27 27 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit G6PD:single_exon:E6 0.185185 159 G6PD:exon_block:E5-E9 0.555556 2444 G6PD:boundary_CDS_coverage:after_E1 1.000000 1545 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 55 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 LZTR1-related disorder lztr1_related_disorder . 26 26 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit LZTR1:single_exon:E8 0.153846 140 LZTR1:exon_block:E5-E9 0.500000 3820 LZTR1:boundary_CDS_coverage:after_E1 1.000000 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 88 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Autosomal dominant distal renal tubular acidosis mondo_mondo_0008368_medgen_cn280572_omim_179800_orphanet_93608 MONDO:MONDO:0008368,MedGen:CN280572,OMIM:179800,Orphanet:93608 25 25 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SLC4A1:single_exon:E14 0.160000 174 SLC4A1:exon_block:E14-E18 0.560000 4428 SLC4A1:boundary_CDS_coverage:after_E1 1.000000 2733 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 75 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 25 25 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GUCY2D:single_exon:E11 0.200000 150 GUCY2D:exon_block:E9-E12 0.600000 1885 GUCY2D:boundary_CDS_coverage:after_E1 1.000000 3309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 78 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Von Willebrand disease type 2A mondo_mondo_0015628_medgen_c1282968_orphanet_166084 MONDO:MONDO:0015628,MedGen:C1282968,Orphanet:166084 24 24 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit VWF:single_exon:E28 0.500000 1379 VWF:exon_block:E26-E28 0.750000 4534 VWF:boundary_CDS_coverage:after_E1 1.000000 8439 large_gene_or_donor_burden_stress_case donor_burden_stress 74 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Choroidal dystrophy, central areolar, 1 mondo_mondo_0024539_medgen_c4551884_omim_215500_orphanet_75377 MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500,Orphanet:75377 24 24 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GUCY2D:single_exon:E12 0.166667 149 GUCY2D:exon_block:E10-E14 0.500000 2602 GUCY2D:boundary_CDS_coverage:after_E1 1.000000 3309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 83 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 24 24 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit CBS:single_exon:E5 0.250000 135 CBS:exon_block:E5-E9 0.541667 2478 CBS:boundary_CDS_coverage:after_E1 1.000000 1653 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 23 23 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SLC2A1:single_exon:E4 0.260870 241 SLC2A1:exon_block:E4-E8 0.608696 1935 SLC2A1:boundary_CDS_coverage:after_E1 0.956522 1458 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence FKRP Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 23 23 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit FKRP:single_exon:E4 1.000000 3164 FKRP:exon_block:E3-E4 1.000000 10061 FKRP:boundary_CDS_coverage:after_E1 1.000000 1485 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 6 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Hartsfield-Bixler-Demyer syndrome mondo_mondo_0014196_medgen_c1845146_omim_615465_orphanet_2117 MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465,Orphanet:2117 23 23 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit FGFR1:single_exon:E14 0.260870 123 FGFR1:exon_block:E11-E15 0.608696 3433 FGFR1:boundary_CDS_coverage:after_E1 1.000000 2466 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 70 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL ACADVL-related disorder acadvl_related_disorder . 23 23 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit ACADVL:single_exon:E9 0.217391 126 ACADVL:exon_block:E5-E9 0.521739 1537 ACADVL:boundary_CDS_coverage:after_E1 1.000000 1903 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence HBB HBB-related disorder hbb_related_disorder MedGen:CN239378 22 22 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.500000 142 HBB:exon_block:E1-E3 0.909091 1608 HBB:boundary_CDS_coverage:after_E1 0.409091 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 21 21 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit LMNA:single_exon:E6 0.333333 221 LMNA:exon_block:E3-E7 0.761905 2034 LMNA:boundary_CDS_coverage:after_E1 1.000000 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 49 record-level condition-associated architecture; not patient coverage or disease prevalence HBB alpha Thalassemia mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 21 21 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit HBB:single_exon:E1 0.380952 142 HBB:exon_block:E1-E3 0.809524 1608 HBB:boundary_CDS_coverage:after_E1 0.428571 349 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Cryohydrocytosis mondo_mondo_0008494_medgen_c1861453_omim_185020_orphanet_398088 MONDO:MONDO:0008494,MedGen:C1861453,OMIM:185020,Orphanet:398088 20 20 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit SLC4A1:single_exon:E17 0.300000 254 SLC4A1:exon_block:E13-E17 0.550000 4427 SLC4A1:boundary_CDS_coverage:after_E1 1.000000 2733 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 74 record-level condition-associated architecture; not patient coverage or disease prevalence GJB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 20 20 condition_architecture_interpretable condition_local_compact_architecture condition-associated records concentrate in compact local exon/block unit GJB1:single_exon:E2 1.000000 1825 GJB1:exon_block:E1-E2 1.000000 2293 GJB1:boundary_CDS_coverage:after_E1 1.000000 849 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 3 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 Multiple congenital exostosis human_phenotype_ontology_hp_0002762_mondo_mondo_0005508_medgen_c0015306_omim_ps133700_orphanet_321 Human_Phenotype_Ontology:HP:0002762,MONDO:MONDO:0005508,MedGen:C0015306,OMIM:PS133700,Orphanet:321 424 424 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage EXT1:single_exon:E1 0.415094 1742 EXT1:exon_block:E1-E5 0.679245 289362 EXT1:boundary_CDS_coverage:after_E1 0.580189 1276 compact_adjacent_exon_block_opportunity local_compact_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH19 Developmental and epileptic encephalopathy, 9 mondo_mondo_0010246_medgen_c1848137_omim_300088_orphanet_101039_orphanet_2076 MONDO:MONDO:0010246,MedGen:C1848137,OMIM:300088,Orphanet:101039,Orphanet:2076 344 344 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage PCDH19:single_exon:E1 0.825581 3823 PCDH19:exon_block:E1-E5 0.970930 68371 PCDH19:boundary_CDS_coverage:after_E1 0.168605 1297 compact_adjacent_exon_block_opportunity local_compact_architecture 22 record-level condition-associated architecture; not patient coverage or disease prevalence AR Androgen resistance syndrome mondo_mondo_0019154_medgen_c0039585_omim_300068_orphanet_754_orphanet_99429 MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429 270 270 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage AR:single_exon:E1 0.303704 2742 AR:exon_block:E1-E5 0.725926 173602 AR:boundary_CDS_coverage:after_E1 0.696296 1144 compact_adjacent_exon_block_opportunity local_compact_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence ARSB Mucopolysaccharidosis type 6 mondo_mondo_0009661_medgen_c0026709_omim_253200_orphanet_583 MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200,Orphanet:583 251 251 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage ARSB:single_exon:E1 0.266932 374 ARSB:exon_block:E1-E5 0.760956 99727 ARSB:boundary_CDS_coverage:after_E1 0.717131 1287 compact_adjacent_exon_block_opportunity local_compact_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 PRPH2-related disorder prph2_related_disorder MedGen:CN239395 240 240 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage PRPH2:single_exon:E2 0.470833 247 PRPH2:exon_block:E1-E3 0.995833 26000 PRPH2:boundary_CDS_coverage:after_E1 0.575000 457 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Oculocutaneous albinism type 1A mondo_mondo_0008745_medgen_c4551504_omim_203100_orphanet_352731_orphanet_79431 MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431 161 161 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage TYR:single_exon:E1 0.496894 898 TYR:exon_block:E1-E5 1.000000 117885 TYR:boundary_CDS_coverage:after_E1 0.503106 768 compact_adjacent_exon_block_opportunity local_compact_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence AR Kennedy disease mondo_mondo_0010735_medgen_c1839259_omim_313200_orphanet_481 MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481 161 161 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage AR:single_exon:E1 0.329193 2742 AR:exon_block:E1-E5 0.720497 173602 AR:boundary_CDS_coverage:after_E1 0.670807 1144 compact_adjacent_exon_block_opportunity local_compact_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence TYR SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN medgen_c2677190_omim_601800 MedGen:C2677190,OMIM:601800 133 133 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage TYR:single_exon:E1 0.496241 898 TYR:exon_block:E1-E5 1.000000 117885 TYR:boundary_CDS_coverage:after_E1 0.503759 768 compact_adjacent_exon_block_opportunity local_compact_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Oculocutaneous albinism type 1B mondo_mondo_0011749_medgen_c1847024_omim_606952_orphanet_352731_orphanet_352737_orphanet_79434 MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434 120 120 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage TYR:single_exon:E1 0.466667 898 TYR:exon_block:E1-E5 1.000000 117885 TYR:boundary_CDS_coverage:after_E1 0.533333 768 compact_adjacent_exon_block_opportunity local_compact_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 106 106 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage PRPH2:single_exon:E2 0.471698 247 PRPH2:exon_block:E1-E3 1.000000 26000 PRPH2:boundary_CDS_coverage:after_E1 0.566038 457 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 Exostoses, multiple, type 1 mondo_mondo_0007585_medgen_cn263289_omim_133700 MONDO:MONDO:0007585,MedGen:CN263289,OMIM:133700 73 73 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage EXT1:single_exon:E1 0.424658 1742 EXT1:exon_block:E1-E5 0.698630 289362 EXT1:boundary_CDS_coverage:after_E1 0.561644 1276 compact_adjacent_exon_block_opportunity local_compact_architecture 46 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Oculocutaneous albinism mondo_mondo_0018910_medgen_c0078918_omim_ps203100_orphanet_55 MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55 47 47 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage TYR:single_exon:E1 0.553191 898 TYR:exon_block:E1-E5 1.000000 117885 TYR:boundary_CDS_coverage:after_E1 0.446809 768 compact_adjacent_exon_block_opportunity local_compact_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence TYR TYR-related disorder tyr_related_disorder . 38 38 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage TYR:single_exon:E1 0.447368 898 TYR:exon_block:E1-E5 0.973684 117885 TYR:boundary_CDS_coverage:after_E1 0.526316 768 compact_adjacent_exon_block_opportunity local_compact_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 34 34 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage PRPH2:single_exon:E2 0.529412 247 PRPH2:exon_block:E1-E3 1.000000 26000 PRPH2:boundary_CDS_coverage:after_E1 0.558824 457 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 32 32 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage HNF1B:single_exon:E1 0.250000 519 HNF1B:exon_block:E1-E5 0.812500 34557 HNF1B:boundary_CDS_coverage:after_E1 0.750000 1327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 36 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Patterned macular dystrophy 1 mondo_mondo_0008210_medgen_c4551999_omim_169150_orphanet_99001 MONDO:MONDO:0008210,MedGen:C4551999,OMIM:169150,Orphanet:99001 31 31 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage PRPH2:single_exon:E1 0.419355 844 PRPH2:exon_block:E1-E3 1.000000 26000 PRPH2:boundary_CDS_coverage:after_E1 0.580645 457 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence TYR Oculocutaneous albinism type 1 mondo_mondo_0018135_medgen_c0268494_orphanet_352731 MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731 29 29 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage TYR:single_exon:E1 0.344828 898 TYR:exon_block:E1-E5 1.000000 117885 TYR:boundary_CDS_coverage:after_E1 0.655172 768 compact_adjacent_exon_block_opportunity local_compact_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Retinitis pigmentosa 7 mondo_mondo_0011974_medgen_c1842475_omim_608133_orphanet_791 MONDO:MONDO:0011974,MedGen:C1842475,OMIM:608133,Orphanet:791 25 25 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage PRPH2:single_exon:E1 0.520000 844 PRPH2:exon_block:E1-E3 1.000000 26000 PRPH2:boundary_CDS_coverage:after_E1 0.480000 457 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Patterned dystrophy of the retinal pigment epithelium mondo_mondo_0018973_medgen_c1868569_orphanet_63454 MONDO:MONDO:0018973,MedGen:C1868569,Orphanet:63454 25 25 condition_architecture_interpretable condition_donor_burden_stress condition-associated records require large-payload unit for coverage PRPH2:single_exon:E2 0.560000 247 PRPH2:exon_block:E1-E3 1.000000 26000 PRPH2:boundary_CDS_coverage:after_E1 0.640000 457 compact_adjacent_exon_block_opportunity local_compact_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Adrenoleukodystrophy mondo_mondo_0018544_medgen_c0162309_omim_300100_orphanet_43 MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100,Orphanet:43 444 444 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit ABCD1:single_exon:E1 0.400901 1311 ABCD1:exon_block:E1-E5 0.632883 12396 ABCD1:boundary_CDS_coverage:after_E1 0.590090 1335 compact_adjacent_exon_block_opportunity local_compact_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Charcot-Marie-Tooth disease type 2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 354 354 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit LMNA:single_exon:E1 0.257062 564 LMNA:exon_block:E1-E5 0.579096 20602 LMNA:boundary_CDS_coverage:after_E1 0.728814 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Mucopolysaccharidosis, MPS-III-B mondo_mondo_0009656_medgen_c0086648_omim_252920_orphanet_79270 MONDO:MONDO:0009656,MedGen:C0086648,OMIM:252920,Orphanet:79270 278 278 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit NAGLU:single_exon:E6 0.402878 1422 NAGLU:exon_block:E2-E6 0.766187 7052 NAGLU:boundary_CDS_coverage:after_E1 0.766187 1846 compact_adjacent_exon_block_opportunity local_compact_architecture 22 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A5 Renal carnitine transport defect mondo_mondo_0008919_medgen_c0342788_omim_212140_orphanet_158 MONDO:MONDO:0008919,MedGen:C0342788,OMIM:212140,Orphanet:158 274 274 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit SLC22A5:single_exon:E1 0.277372 656 SLC22A5:exon_block:E1-E5 0.667883 17442 SLC22A5:boundary_CDS_coverage:after_E1 0.722628 1278 compact_adjacent_exon_block_opportunity local_compact_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence EDA Hypohidrotic X-linked ectodermal dysplasia mondo_mondo_0010585_medgen_c0162359_omim_305100_orphanet_181_orphanet_238468 MONDO:MONDO:0010585,MedGen:C0162359,OMIM:305100,Orphanet:181,Orphanet:238468 243 243 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit EDA:single_exon:E4 0.238683 180 EDA:exon_block:E4-E8 0.674897 11616 EDA:boundary_CDS_coverage:after_E1 0.794239 777 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 230 230 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit HNF1A:single_exon:E2 0.282609 200 HNF1A:exon_block:E1-E5 0.860870 17871 HNF1A:boundary_CDS_coverage:after_E1 0.782609 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence NAGLU Charcot-Marie-Tooth disease axonal type 2V mondo_mondo_0014665_medgen_c5569050_omim_616491_orphanet_447964 MONDO:MONDO:0014665,MedGen:C5569050,OMIM:616491,Orphanet:447964 226 226 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit NAGLU:single_exon:E6 0.411504 1422 NAGLU:exon_block:E2-E6 0.774336 7052 NAGLU:boundary_CDS_coverage:after_E1 0.774336 1846 compact_adjacent_exon_block_opportunity local_compact_architecture 22 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 176 176 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit PEX6:single_exon:E1 0.284091 913 PEX6:exon_block:E1-E5 0.534091 9514 PEX6:boundary_CDS_coverage:after_E1 0.698864 2058 compact_adjacent_exon_block_opportunity local_compact_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHB Maple syrup urine disease mondo_mondo_0009563_mesh_d008375_medgen_c0024776_omim_ps248600_orphanet_511 MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511 165 165 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit BCKDHB:single_exon:E5 0.206061 156 BCKDHB:exon_block:E1-E5 0.606061 62360 BCKDHB:boundary_CDS_coverage:after_E1 0.793939 980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Heimler syndrome 2 medgen_c4225267_omim_616617_orphanet_3220 MedGen:C4225267,OMIM:616617,Orphanet:3220 129 129 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit PEX6:single_exon:E1 0.286822 913 PEX6:exon_block:E1-E5 0.488372 9514 PEX6:boundary_CDS_coverage:after_E1 0.713178 2058 compact_adjacent_exon_block_opportunity local_compact_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Peroxisome biogenesis disorder 4A (Zellweger) mondo_mondo_0013930_medgen_c3553936_omim_614862_orphanet_912 MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912 106 106 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit PEX6:single_exon:E1 0.264151 913 PEX6:exon_block:E1-E5 0.500000 9514 PEX6:boundary_CDS_coverage:after_E1 0.735849 2058 compact_adjacent_exon_block_opportunity local_compact_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Autosomal dominant polycystic kidney disease mondo_mondo_0004691_medgen_c0085413_orphanet_730 MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 96 96 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit PKD2:single_exon:E1 0.197917 694 PKD2:exon_block:E1-E5 0.552083 35823 PKD2:boundary_CDS_coverage:after_E1 0.791667 2309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHB Maple syrup urine disease type 1A mondo_mondo_0023691_medgen_c1855369_omim_248600 MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600 87 87 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit BCKDHB:single_exon:E1 0.206897 219 BCKDHB:exon_block:E5-E9 0.574713 104347 BCKDHB:boundary_CDS_coverage:after_E1 0.793103 980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Peroxisome biogenesis disorder 4B mondo_mondo_0013931_medgen_c3553937_omim_614863_orphanet_44_orphanet_95433 MONDO:MONDO:0013931,MedGen:C3553937,OMIM:614863,Orphanet:44,Orphanet:95433 73 73 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit PEX6:single_exon:E1 0.356164 913 PEX6:exon_block:E1-E5 0.561644 9514 PEX6:boundary_CDS_coverage:after_E1 0.630137 2058 compact_adjacent_exon_block_opportunity local_compact_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence SLC22A5 Carnitine deficiency medgen_c1142132 MedGen:C1142132 72 72 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit SLC22A5:single_exon:E1 0.222222 656 SLC22A5:exon_block:E1-E5 0.666667 17442 SLC22A5:boundary_CDS_coverage:after_E1 0.777778 1278 compact_adjacent_exon_block_opportunity local_compact_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence PEX6 Zellweger spectrum disorders mondo_mondo_0019609_medgen_c0043459_orphanet_912 MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 70 70 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit PEX6:single_exon:E1 0.300000 913 PEX6:exon_block:E1-E5 0.457143 9514 PEX6:boundary_CDS_coverage:after_E1 0.685714 2058 compact_adjacent_exon_block_opportunity local_compact_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Pseudopseudohypoparathyroidism mondo_mondo_0012912_medgen_c0033835_omim_612463_orphanet_79445 MONDO:MONDO:0012912,MedGen:C0033835,OMIM:612463,Orphanet:79445 36 36 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit GNAS:single_exon:E1 0.222222 445 GNAS:exon_block:E1-E5 0.472222 12371 GNAS:boundary_CDS_coverage:after_E1 0.722222 1043 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence PRPH2 Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 28 28 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit PRPH2:single_exon:E1 0.571429 844 PRPH2:exon_block:E1-E2 1.000000 18233 PRPH2:boundary_CDS_coverage:after_E1 0.428571 457 compact_adjacent_exon_block_opportunity local_compact_architecture 6 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Pseudohypoparathyroidism human_phenotype_ontology_hp_0000852_mondo_mondo_0019992_medgen_c0033806_orphanet_79443_orphanet_97593 Human_Phenotype_Ontology:HP:0000852,MONDO:MONDO:0019992,MedGen:C0033806,Orphanet:79443,Orphanet:97593 27 27 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit GNAS:single_exon:E1 0.185185 445 GNAS:exon_block:E1-E5 0.481481 12371 GNAS:boundary_CDS_coverage:after_E1 0.777778 1043 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS GNAS-related disorder gnas_related_disorder MedGen:CN380105 27 27 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit GNAS:single_exon:E1 0.222222 445 GNAS:exon_block:E9-E13 0.481481 1672 GNAS:boundary_CDS_coverage:after_E1 0.777778 1043 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 53 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 ABCD1-related disorder abcd1_related_disorder . 26 26 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit ABCD1:single_exon:E1 0.500000 1311 ABCD1:exon_block:E1-E5 0.730769 12396 ABCD1:boundary_CDS_coverage:after_E1 0.500000 1335 compact_adjacent_exon_block_opportunity local_compact_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Pseudohypoparathyroidism type 1C mondo_mondo_0012911_medgen_c2932716_omim_612462_orphanet_79444 MONDO:MONDO:0012911,MedGen:C2932716,OMIM:612462,Orphanet:79444 23 23 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit GNAS:single_exon:E1 0.217391 445 GNAS:exon_block:E9-E13 0.434783 1672 GNAS:boundary_CDS_coverage:after_E1 0.782609 1043 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 50 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Migalastat response migalastat_response MedGen:CN233149 22 22 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit GLA:single_exon:E1 0.272727 216 GLA:exon_block:E1-E5 0.772727 9141 GLA:boundary_CDS_coverage:after_E1 0.727273 1093 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 26 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Pseudohypoparathyroidism type 1B mondo_mondo_0011301_medgen_c1864100_omim_603233_orphanet_94089 MONDO:MONDO:0011301,MedGen:C1864100,OMIM:603233,Orphanet:94089 21 21 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit GNAS:single_exon:E1 0.285714 445 GNAS:exon_block:E5-E9 0.428571 5908 GNAS:boundary_CDS_coverage:after_E1 0.666667 1043 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 53 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Progressive osseous heteroplasia human_phenotype_ontology_hp_0025027_mondo_mondo_0008153_medgen_c0334041_omim_166350_orphanet_2762 Human_Phenotype_Ontology:HP:0025027,MONDO:MONDO:0008153,MedGen:C0334041,OMIM:166350,Orphanet:2762 21 21 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit GNAS:single_exon:E1 0.238095 445 GNAS:exon_block:E1-E5 0.428571 12371 GNAS:boundary_CDS_coverage:after_E1 0.761905 1043 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence EXT1 Chondrosarcoma human_phenotype_ontology_hp_0006765_mondo_mondo_0008977_medgen_c0008479_omim_215300_orphanet_55880 Human_Phenotype_Ontology:HP:0006765,MONDO:MONDO:0008977,MedGen:C0008479,OMIM:215300,Orphanet:55880 20 20 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit EXT1:single_exon:E1 0.400000 1742 EXT1:exon_block:E1-E2 0.550000 274719 EXT1:boundary_CDS_coverage:after_E1 0.600000 1276 compact_adjacent_exon_block_opportunity local_compact_architecture 40 record-level condition-associated architecture; not patient coverage or disease prevalence ABCD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 20 20 condition_architecture_interpretable condition_diffuse_or_moderate_architecture moderate condition-level unit coverage; no compact high-coverage unit ABCD1:single_exon:E1 0.450000 1311 ABCD1:exon_block:E1-E3 0.600000 11399 ABCD1:boundary_CDS_coverage:after_E1 0.550000 1335 compact_adjacent_exon_block_opportunity local_compact_architecture 39 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Dilated cardiomyopathy 1G mondo_mondo_0011400_medgen_c1858763_omim_604145_orphanet_154 MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154 4510 4510 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.198448 17106 TTN:exon_block:E324-E328 0.227716 19863 TTN:boundary_CDS_coverage:after_E1 0.996009 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 1686 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Autosomal recessive limb-girdle muscular dystrophy type 2J mondo_mondo_0012127_medgen_c1837342_omim_608807_orphanet_140922 MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922 4105 4105 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.196346 17106 TTN:exon_block:E324-E328 0.223630 19863 TTN:boundary_CDS_coverage:after_E1 0.995859 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 1695 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Nemaline myopathy 2 mondo_mondo_0009725_medgen_c1850569_omim_256030 MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030 1554 1554 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden NEB:single_exon:E89 0.018662 312 NEB:exon_block:E85-E89 0.065637 4430 NEB:boundary_CDS_coverage:after_E1 0.996782 25575 large_gene_or_donor_burden_stress_case donor_burden_stress 834 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 1167 1167 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.240788 17106 TTN:exon_block:E324-E328 0.272494 19863 TTN:boundary_CDS_coverage:after_E1 0.998286 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 999 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Arthrogryposis multiplex congenita 6 mondo_mondo_0030281_medgen_c5543431_omim_619334 MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334 581 581 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden NEB:single_exon:E171 0.024096 93 NEB:exon_block:E168-E172 0.091222 4543 NEB:boundary_CDS_coverage:after_E1 0.998279 25575 large_gene_or_donor_burden_stress_case donor_burden_stress 839 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Autosomal recessive ataxia, Beauce type mondo_mondo_0012549_medgen_c1853116_omim_610743_orphanet_88644 MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644 235 235 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden SYNE1:single_exon:E78 0.068085 2161 SYNE1:exon_block:E75-E79 0.097872 13071 SYNE1:boundary_CDS_coverage:after_E1 0.995745 26391 large_gene_or_donor_burden_stress_case donor_burden_stress 684 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 209 209 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.244019 17106 TTN:exon_block:E322-E326 0.267943 18875 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 747 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Primary dilated cardiomyopathy efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 201 201 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.283582 17106 TTN:exon_block:E325-E329 0.328358 19579 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 702 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Early-onset myopathy with fatal cardiomyopathy mondo_mondo_0012714_medgen_c2673677_omim_611705_orphanet_289377 MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377 192 192 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.192708 17106 TTN:exon_block:E324-E328 0.203125 19863 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 902 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 177 177 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden NEB:single_exon:E5 0.022599 216 NEB:exon_block:E165-E169 0.062147 6273 NEB:boundary_CDS_coverage:after_E1 1.000000 25575 large_gene_or_donor_burden_stress_case donor_burden_stress 773 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant mondo_mondo_0013071_medgen_c2751807_omim_612998_orphanet_261 MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261 165 165 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden SYNE1:single_exon:E78 0.054545 2161 SYNE1:exon_block:E77-E81 0.084848 9190 SYNE1:boundary_CDS_coverage:after_E1 0.993939 26391 large_gene_or_donor_burden_stress_case donor_burden_stress 633 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Tibial muscular dystrophy mondo_mondo_0010870_medgen_c1838244_omim_600334_orphanet_609 MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609 163 163 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.233129 17106 TTN:exon_block:E324-E328 0.245399 19863 TTN:boundary_CDS_coverage:after_E1 0.993865 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 771 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Hypertrophic cardiomyopathy 9 mondo_mondo_0013412_medgen_c1861065_omim_613765 MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765 163 163 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.239264 17106 TTN:exon_block:E323-E326 0.263804 18588 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 766 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Myopathy, myofibrillar, 9, with early respiratory failure mondo_mondo_0011362_medgen_c1863599_omim_603689_orphanet_178464_orphanet_34521 MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521 156 156 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.237179 17106 TTN:exon_block:E324-E328 0.256410 19863 TTN:boundary_CDS_coverage:after_E1 0.993590 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 719 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 145 145 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.220690 17106 TTN:exon_block:E322-E326 0.255172 18875 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 701 record-level condition-associated architecture; not patient coverage or disease prevalence TTN TTN-related disorder ttn_related_disorder . 93 93 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.236559 17106 TTN:exon_block:E324-E326 0.247312 18200 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 589 record-level condition-associated architecture; not patient coverage or disease prevalence NEB Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_omim_ps256030_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,OMIM:PS256030,Orphanet:607 78 78 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden NEB:single_exon:E171 0.038462 93 NEB:exon_block:E170-E174 0.153846 4192 NEB:boundary_CDS_coverage:after_E1 1.000000 25575 large_gene_or_donor_burden_stress_case donor_burden_stress 521 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 71 71 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.239437 17106 TTN:exon_block:E326-E329 0.253521 19164 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 470 record-level condition-associated architecture; not patient coverage or disease prevalence TTN Autosomal recessive titinopathy mondo_mondo_0100493_medgen_cn315649 MONDO:MONDO:0100493,MedGen:CN315649 46 46 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden TTN:single_exon:E326 0.130435 17106 TTN:exon_block:E323-E326 0.173913 18588 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_stress 475 record-level condition-associated architecture; not patient coverage or disease prevalence NEB NEB-related disorder neb_related_disorder . 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden NEB:single_exon:E86 0.115385 204 NEB:exon_block:E84-E86 0.153846 3145 NEB:boundary_CDS_coverage:after_E1 1.000000 25575 large_gene_or_donor_burden_stress_case donor_burden_stress 264 record-level condition-associated architecture; not patient coverage or disease prevalence SYNE1 Arthrogryposis multiplex congenita 3, myogenic type mondo_mondo_0032778_medgen_c5193121_omim_618484 MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_with_large_payload_burden high boundary-CDS coverage with large payload burden SYNE1:single_exon:E56 0.090909 357 SYNE1:exon_block:E135-E138 0.181818 8068 SYNE1:boundary_CDS_coverage:after_E1 1.000000 26391 large_gene_or_donor_burden_stress_case donor_burden_stress 230 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Marfan syndrome mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 2904 2904 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E64 0.029270 232 FBN1:exon_block:E62-E66 0.098485 13374 FBN1:boundary_CDS_coverage:after_E1 0.998623 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 321 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 2364 2364 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E64 0.032149 232 FBN1:exon_block:E62-E66 0.102792 13374 FBN1:boundary_CDS_coverage:after_E1 0.999154 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 321 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Polycystic kidney disease, adult type mondo_mondo_0008263_medgen_c3149841_omim_173900 MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 1616 1616 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD1:single_exon:E15 0.225248 3620 PKD1:exon_block:E11-E15 0.311881 6674 PKD1:boundary_CDS_coverage:after_E1 0.974629 12694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 222 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Duchenne muscular dystrophy mondo_mondo_0010679_medgen_c0013264_omim_310200_orphanet_98896 MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896 1600 1600 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E20 0.027500 242 DMD:exon_block:E20-E24 0.098125 26933 DMD:boundary_CDS_coverage:after_E1 0.986250 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 381 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1532 1532 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LDLR:single_exon:E4 0.232376 381 LDLR:exon_block:E4-E8 0.434726 6420 LDLR:boundary_CDS_coverage:after_E1 0.964752 2513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 82 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Cystic fibrosis mondo_mondo_0009061_medgen_c0010674_omim_219700_orphanet_586 MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586 1288 1288 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CFTR:single_exon:E14 0.118012 724 CFTR:exon_block:E10-E14 0.290373 44017 CFTR:boundary_CDS_coverage:after_E1 0.951087 4387 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 127 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 1132 1132 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.186396 6610 SCN1A:exon_block:E25-E29 0.295053 13964 SCN1A:boundary_CDS_coverage:after_E1 0.999117 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Autosomal recessive polycystic kidney disease mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1124 1124 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKHD1:single_exon:E32 0.125445 1608 PKHD1:exon_block:E32-E36 0.189502 66312 PKHD1:boundary_CDS_coverage:after_E1 0.995552 12222 large_gene_or_donor_burden_stress_case donor_burden_stress 326 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteogenesis imperfecta type I mondo_mondo_0008146_medgen_c0023931_omim_166200_orphanet_216796_orphanet_666 MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666 999 999 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E2 0.046046 195 COL1A1:exon_block:E47-E51 0.144144 3022 COL1A1:boundary_CDS_coverage:after_E1 0.975976 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 247 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Familial hypercholesterolemia mondo_mondo_0005439_medgen_c0020445_omim_ps143890 MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 979 979 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LDLR:single_exon:E4 0.220633 381 LDLR:exon_block:E3-E7 0.436159 8108 LDLR:boundary_CDS_coverage:after_E1 0.973442 2513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 81 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Ataxia-telangiectasia syndrome mondo_mondo_0008840_medgen_c0004135_omim_208900_orphanet_100 MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100 966 966 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis C11orf65:boundary_CDS_coverage:after_E1 0.995859 939 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Cohen syndrome mondo_mondo_0008999_medgen_c0265223_omim_216550_orphanet_193 MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193 943 943 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VPS13B:single_exon:E34 0.050901 688 VPS13B:exon_block:E34-E38 0.137858 78742 VPS13B:boundary_CDS_coverage:after_E1 0.995758 11991 large_gene_or_donor_burden_stress_case donor_burden_stress 300 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Usher syndrome type 2A mondo_mondo_0010169_medgen_c1848634_omim_276901_orphanet_231178_orphanet_886 MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886 931 931 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis USH2A:single_exon:E63 0.095596 1517 USH2A:exon_block:E61-E65 0.161117 77793 USH2A:boundary_CDS_coverage:after_E1 1.000000 15606 large_gene_or_donor_burden_stress_case donor_burden_stress 350 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Alstrom syndrome mondo_mondo_0008763_medgen_c0268425_omim_203800_orphanet_64 MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64 921 921 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALMS1:single_exon:E8 0.451683 6108 ALMS1:exon_block:E8-E12 0.611292 86990 ALMS1:boundary_CDS_coverage:after_E1 0.953312 12180 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Phenylketonuria mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 878 878 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PAH:single_exon:E6 0.159453 197 PAH:exon_block:E3-E7 0.518223 42104 PAH:boundary_CDS_coverage:after_E1 0.962415 1296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Retinitis pigmentosa 39 mondo_mondo_0013436_medgen_c3151138_omim_613809_orphanet_791 MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791 848 848 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis USH2A:single_exon:E63 0.096698 1517 USH2A:exon_block:E61-E65 0.167453 77793 USH2A:boundary_CDS_coverage:after_E1 0.998821 15606 large_gene_or_donor_burden_stress_case donor_burden_stress 350 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Wilson disease mondo_mondo_0010200_medgen_c0019202_omim_277900_orphanet_905 MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905 838 838 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ATP7B:single_exon:E2 0.167064 1234 ATP7B:exon_block:E2-E6 0.297136 13332 ATP7B:boundary_CDS_coverage:after_E1 0.983294 4344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 97 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 X-linked Alport syndrome mondo_mondo_0010520_medgen_c4746986_omim_301050_orphanet_63_orphanet_88917 MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917 825 825 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A5:single_exon:E49 0.040000 213 COL4A5:exon_block:E29-E33 0.129697 16084 COL4A5:boundary_CDS_coverage:after_E1 0.987879 4992 large_gene_or_donor_burden_stress_case donor_burden_stress 257 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 823 823 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DNAH5:single_exon:E36 0.027947 179 DNAH5:exon_block:E32-E36 0.099635 14397 DNAH5:boundary_CDS_coverage:after_E1 0.992710 13815 large_gene_or_donor_burden_stress_case donor_burden_stress 387 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Polycystic kidney disease 4 mondo_mondo_0033004_medgen_c4540575_omim_263200 MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200 807 807 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKHD1:single_exon:E32 0.110285 1608 PKHD1:exon_block:E57-E61 0.193309 94402 PKHD1:boundary_CDS_coverage:after_E1 0.997522 12222 large_gene_or_donor_burden_stress_case donor_burden_stress 326 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR CFTR-related disorder mondo_mondo_7770004_medgen_c5924204 MONDO:MONDO:7770004,MedGen:C5924204 806 806 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CFTR:single_exon:E14 0.119107 724 CFTR:exon_block:E10-E14 0.284119 44017 CFTR:boundary_CDS_coverage:after_E1 0.970223 4387 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 127 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Ehlers-Danlos syndrome, type 4 mondo_mondo_0017314_medgen_c0268338_omim_130050_orphanet_286 MONDO:MONDO:0017314,MedGen:C0268338,OMIM:130050,Orphanet:286 790 790 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL3A1:single_exon:E30 0.044304 99 COL3A1:exon_block:E39-E43 0.153165 2471 COL3A1:boundary_CDS_coverage:after_E1 0.983544 4319 large_gene_or_donor_burden_stress_case donor_burden_stress 247 record-level condition-associated architecture; not patient coverage or disease prevalence IDS Mucopolysaccharidosis, MPS-II mondo_mondo_0010674_medgen_c0026705_omim_309900_orphanet_580_orphanet_79388 MONDO:MONDO:0010674,MedGen:C0026705,OMIM:309900,Orphanet:580,Orphanet:79388 782 782 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis IDS:single_exon:E9 0.230179 6231 IDS:exon_block:E5-E9 0.638107 21320 IDS:boundary_CDS_coverage:after_E1 0.960358 1547 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 37 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 764 764 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis C11orf65:boundary_CDS_coverage:after_E1 0.998691 939 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Charlevoix-Saguenay spastic ataxia mondo_mondo_0010041_medgen_c1849140_omim_270550_orphanet_98 MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98 748 748 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SACS:single_exon:E10 0.803476 12861 SACS:exon_block:E6-E10 0.965241 36448 SACS:boundary_CDS_coverage:after_E1 0.998663 13737 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence GAA Glycogen storage disease, type II mondo_mondo_0009290_medgen_c0017921_omim_232300_orphanet_365 MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365 720 720 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GAA:single_exon:E2 0.119444 578 GAA:exon_block:E11-E15 0.334722 2426 GAA:boundary_CDS_coverage:after_E1 0.990278 2856 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 91 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 717 717 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYBPC3:single_exon:E25 0.064156 189 MYBPC3:exon_block:E23-E27 0.216179 3638 MYBPC3:boundary_CDS_coverage:after_E1 0.986053 3797 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 166 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 707 707 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis C11orf65:boundary_CDS_coverage:after_E1 1.000000 939 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA Fanconi anemia complementation group A mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 638 638 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCA:single_exon:E28 0.050157 177 FANCA:exon_block:E1-E5 0.156740 5941 FANCA:boundary_CDS_coverage:after_E1 0.946708 4286 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 207 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 625 625 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E31 0.060800 456 CEP290:exon_block:E28-E32 0.163200 6196 CEP290:boundary_CDS_coverage:after_E1 0.998400 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 261 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Nephronophthisis human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 624 624 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E31 0.060897 456 CEP290:exon_block:E28-E32 0.163462 6196 CEP290:boundary_CDS_coverage:after_E1 0.998397 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 261 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 624 624 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E31 0.060897 456 CEP290:exon_block:E28-E32 0.163462 6196 CEP290:boundary_CDS_coverage:after_E1 0.998397 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 261 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 620 620 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCA:single_exon:E32 0.050000 173 FANCA:exon_block:E1-E5 0.164516 5941 FANCA:boundary_CDS_coverage:after_E1 0.964516 4286 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 207 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Retinitis pigmentosa 25 mondo_mondo_0011272_medgen_c1864446_omim_602772_orphanet_791 MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791 613 613 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EYS:single_exon:E43 0.156607 1818 EYS:exon_block:E26-E30 0.225122 285020 EYS:boundary_CDS_coverage:after_E1 0.996737 9432 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 201 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Niemann-Pick disease, type C1 mondo_mondo_0009757_medgen_c3179455_omim_257220_orphanet_646 MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646 606 606 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NPC1:single_exon:E8 0.089109 371 NPC1:exon_block:E18-E22 0.298680 4533 NPC1:boundary_CDS_coverage:after_E1 0.990099 3777 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 116 record-level condition-associated architecture; not patient coverage or disease prevalence AGL Glycogen storage disease type III mondo_mondo_0009291_medgen_c0017922_omim_232400_orphanet_366 MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366 605 605 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis AGL:single_exon:E5 0.054545 204 AGL:exon_block:E3-E7 0.203306 9367 AGL:boundary_CDS_coverage:after_E1 0.991736 4596 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 161 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Arrhythmogenic cardiomyopathy with wooly hair and keratoderma mondo_mondo_0011581_medgen_c1854063_omim_605676_orphanet_65282 MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282 582 582 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E23 0.280069 2295 DSP:exon_block:E20-E24 0.594502 9756 DSP:boundary_CDS_coverage:after_E1 0.979381 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 112 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Severe myoclonic epilepsy in infancy mondo_mondo_0100135_medgen_c0751122_omim_607208_orphanet_33069 MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069 580 580 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.175862 6610 SCN1A:exon_block:E25-E29 0.281034 13964 SCN1A:boundary_CDS_coverage:after_E1 0.996552 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Arrhythmogenic right ventricular dysplasia 8 mondo_mondo_0011831_medgen_c1843896_omim_607450 MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450 573 573 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E23 0.284468 2295 DSP:exon_block:E20-E24 0.595113 9756 DSP:boundary_CDS_coverage:after_E1 0.980803 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 112 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 CHARGE syndrome mondo_mondo_0008965_medgen_c0265354_orphanet_138 MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 570 570 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHD7:single_exon:E2 0.143860 1839 CHD7:exon_block:E2-E6 0.238596 60335 CHD7:boundary_CDS_coverage:after_E1 0.994737 8991 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 181 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Rett syndrome mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 561 561 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MECP2:single_exon:E3 0.696970 9878 MECP2:exon_block:E1-E3 0.896613 76145 MECP2:boundary_CDS_coverage:after_E1 0.862745 1432 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Kabuki syndrome 1 mondo_mondo_0007843_medgen_cn030661_omim_147920_orphanet_2322 MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322 555 555 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KMT2D:single_exon:E40 0.194595 2790 KMT2D:exon_block:E37-E41 0.237838 3774 KMT2D:boundary_CDS_coverage:after_E1 0.998198 16611 large_gene_or_donor_burden_stress_case donor_burden_stress 262 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Gorlin syndrome mondo_mondo_0007187_medgen_c0004779_omim_ps109400_orphanet_377 MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377 550 550 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PTCH1:single_exon:E15 0.105455 310 PTCH1:exon_block:E14-E18 0.330909 11141 PTCH1:boundary_CDS_coverage:after_E1 0.980000 4140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 LAMA2-related muscular dystrophy mondo_mondo_0100228_medgen_c5679788 MONDO:MONDO:0100228,MedGen:C5679788 548 548 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMA2:single_exon:E64 0.031022 223 LAMA2:exon_block:E23-E27 0.094891 3311 LAMA2:boundary_CDS_coverage:after_E1 0.972628 9254 large_gene_or_donor_burden_stress_case donor_burden_stress 317 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Neuromuscular disease caused by qualitative or quantitative defects of dysferlin mondo_mondo_0016145_medgen_c2931687_orphanet_207073 MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073 525 525 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYSF:single_exon:E29 0.040000 143 DYSF:exon_block:E26-E30 0.133333 6200 DYSF:boundary_CDS_coverage:after_E1 0.988571 6266 large_gene_or_donor_burden_stress_case donor_burden_stress 269 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 RYR1-related disorder ryr1_related_disorder MedGen:CN239331 520 520 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E91 0.076923 813 RYR1:exon_block:E91-E95 0.150000 7312 RYR1:boundary_CDS_coverage:after_E1 0.996154 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 512 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Merosin deficient congenital muscular dystrophy mondo_mondo_0011925_medgen_c1263858_omim_607855_orphanet_258 MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258 515 515 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMA2:single_exon:E19 0.033010 212 LAMA2:exon_block:E17-E21 0.116505 27242 LAMA2:boundary_CDS_coverage:after_E1 0.978641 9254 large_gene_or_donor_burden_stress_case donor_burden_stress 316 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Hereditary factor VIII deficiency disease mondo_mondo_0010602_medgen_c0019069_omim_306700_orphanet_98878 MONDO:MONDO:0010602,MedGen:C0019069,OMIM:306700,Orphanet:98878 505 505 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis F8:single_exon:E14 0.154455 3106 F8:exon_block:E11-E15 0.300990 50752 F8:boundary_CDS_coverage:after_E1 0.970297 6910 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 122 record-level condition-associated architecture; not patient coverage or disease prevalence ACADVL Very long chain acyl-CoA dehydrogenase deficiency mondo_mondo_0008723_medgen_c3887523_omim_201475_orphanet_26793 MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793 504 504 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ACADVL:single_exon:E10 0.099206 199 ACADVL:exon_block:E6-E10 0.414683 1942 ACADVL:boundary_CDS_coverage:after_E1 0.966270 1903 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Hereditary spastic paraplegia 11 mondo_mondo_0011445_medgen_c1858479_omim_604360_orphanet_2822 MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822 502 502 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPG11:single_exon:E30 0.105578 745 SPG11:exon_block:E28-E32 0.241036 15868 SPG11:boundary_CDS_coverage:after_E1 0.962151 7072 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 192 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Familial cancer of breast mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 501 501 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BARD1:single_exon:E4 0.375250 950 BARD1:exon_block:E4-E8 0.616766 35788 BARD1:boundary_CDS_coverage:after_E1 0.922156 2173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 496 496 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LDLR:single_exon:E4 0.233871 381 LDLR:exon_block:E4-E8 0.451613 6420 LDLR:boundary_CDS_coverage:after_E1 0.971774 2513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 81 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Hypertrophic cardiomyopathy 26 mondo_mondo_0014883_medgen_c4310749_omim_617047_orphanet_75249 MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249 490 490 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNC:single_exon:E41 0.051020 270 FLNC:exon_block:E19-E23 0.163265 2668 FLNC:boundary_CDS_coverage:after_E1 0.955102 7823 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 232 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL Cornelia de Lange syndrome 1 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 487 487 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NIPBL:single_exon:E10 0.143737 1626 NIPBL:exon_block:E8-E12 0.268994 28626 NIPBL:boundary_CDS_coverage:after_E1 0.995893 8412 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 227 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 483 483 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DNAH11:single_exon:E82 0.072464 833 DNAH11:exon_block:E78-E82 0.136646 7217 DNAH11:boundary_CDS_coverage:after_E1 0.971014 13197 large_gene_or_donor_burden_stress_case donor_burden_stress 401 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 480 480 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LZTR1:single_exon:E9 0.077083 202 LZTR1:exon_block:E7-E11 0.300000 3280 LZTR1:boundary_CDS_coverage:after_E1 0.927083 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 96 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 480 480 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LZTR1:single_exon:E9 0.077083 202 LZTR1:exon_block:E7-E11 0.300000 3280 LZTR1:boundary_CDS_coverage:after_E1 0.927083 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 96 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Hereditary spastic paraplegia 4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 476 476 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPAST:single_exon:E11 0.100840 92 SPAST:exon_block:E8-E12 0.369748 10241 SPAST:boundary_CDS_coverage:after_E1 0.878151 1433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 461 461 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RAD50:single_exon:E9 0.075922 207 RAD50:exon_block:E9-E13 0.260304 6180 RAD50:boundary_CDS_coverage:after_E1 0.952278 3807 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 117 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Bardet-Biedl syndrome 14 mondo_mondo_0014442_medgen_c2673874_omim_615991_orphanet_110 MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110 461 461 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E31 0.060738 456 CEP290:exon_block:E36-E40 0.138829 6258 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 261 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 456 456 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E13 0.046053 177 ABCA4:exon_block:E10-E14 0.146930 18170 ABCA4:boundary_CDS_coverage:after_E1 0.986842 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 242 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Myofibrillar myopathy 5 mondo_mondo_0012289_medgen_c1836050_omim_609524_orphanet_171445 MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445 455 455 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNC:single_exon:E41 0.052747 270 FLNC:exon_block:E19-E23 0.151648 2668 FLNC:boundary_CDS_coverage:after_E1 0.953846 7823 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 232 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Distal myopathy with posterior leg and anterior hand involvement mondo_mondo_0013550_medgen_c3279722_omim_614065_orphanet_63273 MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273 455 455 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNC:single_exon:E41 0.052747 270 FLNC:exon_block:E19-E23 0.151648 2668 FLNC:boundary_CDS_coverage:after_E1 0.953846 7823 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 232 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Leber congenital amaurosis 8 mondo_mondo_0013453_medgen_c3151202_omim_613835_orphanet_65 MONDO:MONDO:0013453,MedGen:C3151202,OMIM:613835,Orphanet:65 454 454 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CRB1:single_exon:E9 0.213656 907 CRB1:exon_block:E5-E9 0.660793 78782 CRB1:boundary_CDS_coverage:after_E1 0.975771 4148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 52 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Autosomal recessive limb-girdle muscular dystrophy type 2B mondo_mondo_0009676_medgen_c1850889_omim_253601_orphanet_268 MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268 452 452 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYSF:single_exon:E47 0.046460 143 DYSF:exon_block:E25-E29 0.132743 2791 DYSF:boundary_CDS_coverage:after_E1 0.991150 6266 large_gene_or_donor_burden_stress_case donor_burden_stress 268 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC Glycine encephalopathy human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 449 449 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLDC:single_exon:E4 0.077951 165 GLDC:exon_block:E15-E19 0.256125 32615 GLDC:boundary_CDS_coverage:after_E1 0.944321 2805 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 117 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Autosomal recessive nonsyndromic hearing loss 3 mondo_mondo_0010860_medgen_c1838263_omim_600316_orphanet_90636 MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636 440 440 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO15A:single_exon:E2 0.200000 3828 MYO15A:exon_block:E2-E6 0.247727 8284 MYO15A:boundary_CDS_coverage:after_E1 0.997727 10590 large_gene_or_donor_burden_stress_case donor_burden_stress 319 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Autosomal recessive Alport syndrome mondo_mondo_0008762_medgen_c4746745_omim_203780_orphanet_63_orphanet_88919 MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919 439 439 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A4:single_exon:E28 0.052392 219 COL4A4:exon_block:E28-E32 0.173121 7319 COL4A4:boundary_CDS_coverage:after_E1 0.997722 5070 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 231 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 433 433 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNH2:single_exon:E7 0.187067 388 KCNH2:exon_block:E4-E8 0.471132 7582 KCNH2:boundary_CDS_coverage:after_E1 0.969977 3401 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Bronchiectasis with or without elevated sweat chloride 1 mondo_mondo_0008887_medgen_c2749757_omim_211400_orphanet_60033 MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033 430 430 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CFTR:single_exon:E14 0.102326 724 CFTR:exon_block:E10-E14 0.281395 44017 CFTR:boundary_CDS_coverage:after_E1 0.972093 4387 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 127 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Osteogenesis imperfecta type I mondo_mondo_0008146_medgen_c0023931_omim_166200_orphanet_216796_orphanet_666 MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666 429 429 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E17 0.055944 99 COL1A2:exon_block:E16-E20 0.165501 1526 COL1A2:boundary_CDS_coverage:after_E1 0.997669 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 242 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Autosomal recessive limb-girdle muscular dystrophy type 2A mondo_mondo_0009675_medgen_c1869123_omim_253600_orphanet_267 MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600,Orphanet:267 429 429 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CAPN3:single_exon:E1 0.083916 614 CAPN3:exon_block:E1-E5 0.303030 29596 CAPN3:boundary_CDS_coverage:after_E1 0.913753 2154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 112 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 428 428 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ2:single_exon:E4 0.147196 176 KCNQ2:exon_block:E4-E8 0.516355 11026 KCNQ2:boundary_CDS_coverage:after_E1 0.922897 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 KBG syndrome mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 423 423 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ANKRD11:single_exon:E9 0.846336 6578 ANKRD11:exon_block:E8-E12 0.926714 15370 ANKRD11:boundary_CDS_coverage:after_E1 0.992908 7989 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 53 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Nemaline myopathy 2 mondo_mondo_0009725_medgen_c1850569_omim_256030 MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030 418 418 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RIF1:boundary_CDS_coverage:after_E1 0.995215 7416 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence WRN Werner syndrome mondo_mondo_0010196_medgen_c0043119_omim_277700_orphanet_902 MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902 413 413 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis WRN:single_exon:E9 0.106538 430 WRN:exon_block:E5-E9 0.227603 16382 WRN:boundary_CDS_coverage:after_E1 0.987893 4296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 165 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Mucolipidosis type II mondo_mondo_0009650_medgen_c2673377_omim_252500_orphanet_576 MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576 409 409 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GNPTAB:single_exon:E13 0.290954 1103 GNPTAB:exon_block:E11-E15 0.513447 7034 GNPTAB:boundary_CDS_coverage:after_E1 0.946210 3651 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 97 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 Primary ciliary dyskinesia 3 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 407 407 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DNAH5:single_exon:E34 0.031941 225 DNAH5:exon_block:E30-E34 0.100737 18700 DNAH5:boundary_CDS_coverage:after_E1 0.992629 13815 large_gene_or_donor_burden_stress_case donor_burden_stress 387 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Severe early-childhood-onset retinal dystrophy mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 406 406 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E22 0.051724 138 ABCA4:exon_block:E12-E16 0.157635 8207 ABCA4:boundary_CDS_coverage:after_E1 0.982759 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 241 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Hereditary hemorrhagic telangiectasia mondo_mondo_0019180_medgen_c0039445_omim_ps187300_orphanet_774 MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774 405 405 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ENG:single_exon:E12 0.128395 258 ENG:exon_block:E3-E7 0.459259 5028 ENG:boundary_CDS_coverage:after_E1 0.950617 1907 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Miyoshi muscular dystrophy 1 mondo_mondo_0024545_medgen_c4551973_omim_254130_orphanet_45448 MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448 404 404 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYSF:single_exon:E47 0.047030 143 DYSF:exon_block:E26-E30 0.150990 6200 DYSF:boundary_CDS_coverage:after_E1 0.990099 6266 large_gene_or_donor_burden_stress_case donor_burden_stress 267 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Ehlers-Danlos syndrome, classic type, 1 mondo_mondo_0019567_medgen_c0268335_omim_130000 MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000 398 398 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E17 0.057789 99 COL1A2:exon_block:E16-E20 0.168342 1526 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 242 record-level condition-associated architecture; not patient coverage or disease prevalence SACS Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 397 397 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SACS:single_exon:E10 0.816121 12861 SACS:exon_block:E6-E10 0.969773 36448 SACS:boundary_CDS_coverage:after_E1 1.000000 13737 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 39 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Developmental and epileptic encephalopathy, 11 mondo_mondo_0013388_medgen_c3150987_omim_613721_orphanet_1934 MONDO:MONDO:0013388,MedGen:C3150987,OMIM:613721,Orphanet:1934 396 396 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN2A:single_exon:E27 0.169192 3676 SCN2A:exon_block:E23-E27 0.356061 14708 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 126 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Autosomal recessive nonsyndromic hearing loss 4 mondo_mondo_0010933_medgen_c3538946_omim_600791_orphanet_90636 MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636 389 389 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC26A4:single_exon:E10 0.082262 114 SLC26A4:exon_block:E2-E6 0.321337 13471 SLC26A4:boundary_CDS_coverage:after_E1 1.000000 2340 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 96 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Sotos syndrome mondo_mondo_0019349_medgen_c0175695_omim_117550_orphanet_821 MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821 389 389 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NSD1:single_exon:E5 0.285347 2560 NSD1:exon_block:E5-E9 0.380463 34635 NSD1:boundary_CDS_coverage:after_E1 1.000000 8088 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Jeune thoracic dystrophy mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 385 385 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYNC2H1:single_exon:E66 0.033766 164 DYNC2H1:exon_block:E64-E68 0.101299 12548 DYNC2H1:boundary_CDS_coverage:after_E1 0.992208 12726 large_gene_or_donor_burden_stress_case donor_burden_stress 433 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Hypophosphatasia mondo_mondo_0018570_mesh_d007014_medgen_c0020630_orphanet_436 MONDO:MONDO:0018570,MeSH:D007014,MedGen:C0020630,Orphanet:436 381 381 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALPL:single_exon:E5 0.141732 175 ALPL:exon_block:E8-E12 0.503937 8106 ALPL:boundary_CDS_coverage:after_E1 1.000000 1572 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Primary ciliary dyskinesia human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 380 380 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGR:single_exon:E15 0.615789 2838 RPGR:exon_block:E11-E15 0.694737 13045 RPGR:boundary_CDS_coverage:after_E1 0.981579 3428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Developmental and epileptic encephalopathy, 2 mondo_mondo_0010396_medgen_c4750718_omim_300672_orphanet_1934_orphanet_3451_orphanet_505652 MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652 378 378 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDKL5:single_exon:E12 0.187831 967 CDKL5:exon_block:E8-E12 0.465608 20606 CDKL5:boundary_CDS_coverage:after_E1 0.989418 2880 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 81 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Finnish congenital nephrotic syndrome mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 377 377 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NPHS1:single_exon:E2 0.061008 216 NPHS1:exon_block:E15-E19 0.230769 2336 NPHS1:boundary_CDS_coverage:after_E1 0.976127 3665 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 137 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Retinitis pigmentosa 12 mondo_mondo_0010818_medgen_c1838647_omim_600105_orphanet_791 MONDO:MONDO:0010818,MedGen:C1838647,OMIM:600105,Orphanet:791 377 377 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CRB1:single_exon:E9 0.209549 907 CRB1:exon_block:E5-E9 0.660477 78782 CRB1:boundary_CDS_coverage:after_E1 0.973475 4148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 52 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Monogenic diabetes mondo_mondo_0015967_medgen_c3888631_orphanet_183625 MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 374 374 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GCK:single_exon:E9 0.272727 234 GCK:exon_block:E6-E10 0.713904 5585 GCK:boundary_CDS_coverage:after_E1 0.994652 1350 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa dystrophica mondo_mondo_0006543_medgen_c0079294_orphanet_303 MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303 365 365 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.063014 201 COL7A1:exon_block:E73-E77 0.106849 952 COL7A1:boundary_CDS_coverage:after_E1 0.994521 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 575 record-level condition-associated architecture; not patient coverage or disease prevalence PDHA1 Pyruvate dehydrogenase E1-alpha deficiency mondo_mondo_0010717_medgen_c1839413_omim_312170_orphanet_79243 MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243 364 364 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PDHA1:single_exon:E11 0.258242 2230 PDHA1:exon_block:E7-E11 0.697802 6370 PDHA1:boundary_CDS_coverage:after_E1 0.978022 1113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Baller-Gerold syndrome mondo_mondo_0009039_medgen_c0265308_omim_218600_orphanet_1225 MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225 363 363 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RECQL4:single_exon:E5 0.190083 777 RECQL4:exon_block:E3-E7 0.338843 2183 RECQL4:boundary_CDS_coverage:after_E1 0.964187 3540 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 96 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Long QT syndrome mondo_mondo_0002442_mesh_d008133_medgen_c0023976 MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 362 362 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E7 0.157459 111 KCNQ1:exon_block:E3-E7 0.511050 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.908840 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence ACADM Medium-chain acyl-coenzyme A dehydrogenase deficiency mondo_mondo_0008721_medgen_c0220710_omim_201450_orphanet_42 MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42 362 362 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ACADM:single_exon:E11 0.201657 249 ACADM:exon_block:E7-E11 0.522099 21391 ACADM:boundary_CDS_coverage:after_E1 0.955801 1233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 52 record-level condition-associated architecture; not patient coverage or disease prevalence CPS1 Congenital hyperammonemia, type I mondo_mondo_0009376_medgen_c4082171_omim_237300_orphanet_147 MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147 361 361 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPS1:single_exon:E20 0.077562 177 CPS1:exon_block:E16-E20 0.246537 10092 CPS1:boundary_CDS_coverage:after_E1 0.983380 4374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 181 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 356 356 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E3 0.039326 114 MYO7A:exon_block:E3-E7 0.154494 14296 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 236 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Pseudo-Hurler polydystrophy mondo_mondo_0018931_medgen_c0033788_omim_252600_orphanet_423461_orphanet_577 MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577 354 354 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GNPTAB:single_exon:E13 0.285311 1103 GNPTAB:exon_block:E11-E15 0.511299 7034 GNPTAB:boundary_CDS_coverage:after_E1 0.949153 3651 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 97 record-level condition-associated architecture; not patient coverage or disease prevalence MAN2B1 Deficiency of alpha-mannosidase mondo_mondo_0009561_medgen_c0024748_omim_248500_orphanet_61 MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500,Orphanet:61 352 352 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MAN2B1:single_exon:E4 0.082386 194 MAN2B1:exon_block:E1-E5 0.261364 3040 MAN2B1:boundary_CDS_coverage:after_E1 0.946023 2874 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 112 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 349 349 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis USH2A:single_exon:E63 0.106017 1517 USH2A:exon_block:E61-E65 0.200573 77793 USH2A:boundary_CDS_coverage:after_E1 1.000000 15606 large_gene_or_donor_burden_stress_case donor_burden_stress 347 record-level condition-associated architecture; not patient coverage or disease prevalence GALC Galactosylceramide beta-galactosidase deficiency mondo_mondo_0009499_medgen_c0023521_omim_245200_orphanet_487 MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487 348 348 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GALC:single_exon:E1 0.135057 213 GALC:exon_block:E1-E5 0.356322 8789 GALC:boundary_CDS_coverage:after_E1 0.862069 1860 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Aniridia 1 mondo_mondo_0024507_medgen_c0344542_omim_106210_orphanet_250923 MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923 345 345 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PAX6:single_exon:E7 0.211594 216 PAX6:exon_block:E5-E9 0.626087 8205 PAX6:boundary_CDS_coverage:after_E1 0.991304 1308 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 60 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 341 341 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYBPC3:single_exon:E17 0.076246 167 MYBPC3:exon_block:E15-E19 0.234604 2008 MYBPC3:boundary_CDS_coverage:after_E1 0.997067 3797 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 165 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Autosomal dominant Alport syndrome mondo_mondo_0007086_medgen_c5882663_omim_104200_orphanet_63_orphanet_88918 MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918 336 336 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A3:single_exon:E42 0.047619 186 COL4A3:exon_block:E36-E40 0.157738 5064 COL4A3:boundary_CDS_coverage:after_E1 0.994048 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 252 record-level condition-associated architecture; not patient coverage or disease prevalence HEXA Tay-Sachs disease mondo_mondo_0010100_medgen_c0039373_omim_272800_orphanet_845 MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845 328 328 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HEXA:single_exon:E1 0.137195 295 HEXA:exon_block:E5-E9 0.396341 5131 HEXA:boundary_CDS_coverage:after_E1 0.856707 1334 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Recessive dystrophic epidermolysis bullosa mondo_mondo_0009179_medgen_c0079474_omim_226600_orphanet_79408_orphanet_79409 MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600,Orphanet:79408,Orphanet:79409 327 327 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.042813 201 COL7A1:exon_block:E71-E75 0.085627 1090 COL7A1:boundary_CDS_coverage:after_E1 1.000000 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 573 record-level condition-associated architecture; not patient coverage or disease prevalence ELP1 Familial dysautonomia mondo_mondo_0009131_medgen_c0013364_omim_223900_orphanet_1764 MONDO:MONDO:0009131,MedGen:C0013364,OMIM:223900,Orphanet:1764 326 326 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ELP1:single_exon:E11 0.067485 231 ELP1:exon_block:E7-E11 0.184049 7086 ELP1:boundary_CDS_coverage:after_E1 1.000000 3996 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 175 record-level condition-associated architecture; not patient coverage or disease prevalence ANK1 Hereditary spherocytosis type 1 mondo_mondo_0008447_medgen_c2674218_omim_182900_orphanet_822 MONDO:MONDO:0008447,MedGen:C2674218,OMIM:182900,Orphanet:822 325 325 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ANK1:single_exon:E38 0.073846 559 ANK1:exon_block:E35-E39 0.218462 19964 ANK1:boundary_CDS_coverage:after_E1 0.990769 5613 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 204 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Seizures, benign familial infantile, 3 mondo_mondo_0011904_medgen_c1843140_omim_607745_orphanet_140927_orphanet_306 MONDO:MONDO:0011904,MedGen:C1843140,OMIM:607745,Orphanet:140927,Orphanet:306 324 324 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN2A:single_exon:E27 0.191358 3676 SCN2A:exon_block:E23-E27 0.370370 14708 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 125 record-level condition-associated architecture; not patient coverage or disease prevalence EVC2 Ellis-van Creveld syndrome mondo_mondo_0009162_medgen_c0013903_omim_225500_orphanet_289 MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289 324 324 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EVC2:single_exon:E14 0.114198 455 EVC2:exon_block:E10-E14 0.345679 18302 EVC2:boundary_CDS_coverage:after_E1 0.916667 3696 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 102 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A3 Familial hypokalemia-hypomagnesemia mondo_mondo_0009904_medgen_c0268450_omim_263800_orphanet_358 MONDO:MONDO:0009904,MedGen:C0268450,OMIM:263800,Orphanet:358 322 322 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC12A3:single_exon:E1 0.074534 311 SLC12A3:exon_block:E1-E5 0.248447 5029 SLC12A3:boundary_CDS_coverage:after_E1 0.922360 2781 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 122 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Progressive sclerosing poliodystrophy mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 322 322 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLG:single_exon:E2 0.108696 818 POLG:exon_block:E18-E22 0.354037 3637 POLG:boundary_CDS_coverage:after_E1 1.000000 3717 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 105 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Intellectual disability, autosomal dominant 5 mondo_mondo_0012960_medgen_c2675473_omim_612621_orphanet_544254 MONDO:MONDO:0012960,MedGen:C2675473,OMIM:612621,Orphanet:544254 320 320 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SYNGAP1:single_exon:E15 0.250000 1072 SYNGAP1:exon_block:E11-E15 0.428125 3232 SYNGAP1:boundary_CDS_coverage:after_E1 0.990625 3962 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 85 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Episodic ataxia type 2 mondo_mondo_0007163_medgen_c1720416_omim_108500_orphanet_97 MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97 319 319 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CACNA1A:single_exon:E19 0.109718 810 CACNA1A:exon_block:E16-E20 0.210031 17382 CACNA1A:boundary_CDS_coverage:after_E1 0.949843 7225 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 224 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary hypertension, primary, 1 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 319 319 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BMPR2:single_exon:E3 0.150470 171 BMPR2:exon_block:E8-E12 0.479624 25738 BMPR2:boundary_CDS_coverage:after_E1 0.940439 3038 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Pendred syndrome mondo_mondo_0010134_medgen_c0271829_omim_274600_orphanet_705 MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705 318 318 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC26A4:single_exon:E10 0.091195 114 SLC26A4:exon_block:E2-E6 0.330189 13471 SLC26A4:boundary_CDS_coverage:after_E1 1.000000 2340 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 96 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Polycystic kidney disease 2 mondo_mondo_0013131_medgen_c2751306_omim_613095 MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095 316 316 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD2:single_exon:E1 0.183544 694 PKD2:exon_block:E1-E5 0.518987 35823 PKD2:boundary_CDS_coverage:after_E1 0.813291 2309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Alagille syndrome due to a JAG1 point mutation mondo_mondo_0016862_medgen_c1956125_omim_118450_orphanet_261619_orphanet_52 MONDO:MONDO:0016862,MedGen:C1956125,OMIM:118450,Orphanet:261619,Orphanet:52 314 314 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis JAG1:single_exon:E2 0.092357 306 JAG1:exon_block:E2-E6 0.264331 20539 JAG1:boundary_CDS_coverage:after_E1 0.961783 3573 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 122 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 314 314 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BARD1:single_exon:E4 0.398089 950 BARD1:exon_block:E4-E8 0.643312 35788 BARD1:boundary_CDS_coverage:after_E1 0.936306 2173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence EVC Ellis-van Creveld syndrome mondo_mondo_0009162_medgen_c0013903_omim_225500_orphanet_289 MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289 311 311 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EVC:single_exon:E1 0.125402 354 EVC:exon_block:E6-E10 0.305466 12218 EVC:boundary_CDS_coverage:after_E1 0.864952 2802 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 96 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Autosomal recessive nonsyndromic hearing loss 2 mondo_mondo_0010807_medgen_c1838701_omim_600060_orphanet_90636 MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636 309 309 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E5 0.042071 185 MYO7A:exon_block:E3-E7 0.171521 14296 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 234 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Kabuki syndrome mondo_mondo_0016512_medgen_c0796004_omim_ps147920_orphanet_2322 MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322 309 309 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KMT2D:single_exon:E40 0.200647 2790 KMT2D:exon_block:E38-E42 0.242718 3876 KMT2D:boundary_CDS_coverage:after_E1 0.996764 16611 large_gene_or_donor_burden_stress_case donor_burden_stress 260 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Developmental and epileptic encephalopathy, 42 mondo_mondo_0014917_medgen_c4310716_omim_617106 MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106 307 307 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CACNA1A:single_exon:E19 0.114007 810 CACNA1A:exon_block:E16-E20 0.218241 17382 CACNA1A:boundary_CDS_coverage:after_E1 0.960912 7225 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 225 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA2 Muscular dystrophy, limb-girdle, autosomal recessive 23 mondo_mondo_0029136_medgen_c4748327_omim_618138_orphanet_565837 MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837 306 306 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMA2:single_exon:E4 0.032680 243 LAMA2:exon_block:E8-E12 0.104575 38349 LAMA2:boundary_CDS_coverage:after_E1 0.990196 9254 large_gene_or_donor_burden_stress_case donor_burden_stress 315 record-level condition-associated architecture; not patient coverage or disease prevalence MSH3 Familial adenomatous polyposis 4 mondo_mondo_0044300_medgen_c4310719_omim_617100_orphanet_480536 MONDO:MONDO:0044300,MedGen:C4310719,OMIM:617100,Orphanet:480536 302 302 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MSH3:single_exon:E15 0.079470 169 MSH3:exon_block:E1-E5 0.258278 17709 MSH3:boundary_CDS_coverage:after_E1 0.966887 3174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Congenital myotonia, autosomal recessive form mondo_mondo_0009715_medgen_c0751360_omim_255700_orphanet_614 MONDO:MONDO:0009715,MedGen:C0751360,OMIM:255700,Orphanet:614 301 301 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CLCN1:single_exon:E8 0.106312 126 CLCN1:exon_block:E4-E8 0.289037 9533 CLCN1:boundary_CDS_coverage:after_E1 0.940199 2784 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 107 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX Familial X-linked hypophosphatemic vitamin D refractory rickets mondo_mondo_0010619_medgen_c0733682_omim_307800_orphanet_89936 MONDO:MONDO:0010619,MedGen:C0733682,OMIM:307800,Orphanet:89936 299 299 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PHEX:single_exon:E18 0.073579 131 PHEX:exon_block:E17-E21 0.277592 26374 PHEX:boundary_CDS_coverage:after_E1 0.963211 2129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 102 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Alport syndrome mondo_mondo_0018965_medgen_c1567741_omim_ps301050_orphanet_63 MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63 297 297 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A3:single_exon:E42 0.050505 186 COL4A3:exon_block:E26-E30 0.154882 7642 COL4A3:boundary_CDS_coverage:after_E1 0.979798 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 252 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Zellweger spectrum disorders mondo_mondo_0019609_medgen_c0043459_orphanet_912 MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 295 295 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PEX1:single_exon:E5 0.186441 767 PEX1:exon_block:E1-E5 0.308475 11245 PEX1:boundary_CDS_coverage:after_E1 0.952542 3720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence PCCA Propionic acidemia human_phenotype_ontology_hp_0003571_mondo_mondo_0011628_medgen_c0268579_omim_606054_orphanet_35 Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35 292 292 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PCCA:single_exon:E13 0.089041 144 PCCA:exon_block:E9-E13 0.308219 44009 PCCA:boundary_CDS_coverage:after_E1 0.934932 2079 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 112 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Mowat-Wilson syndrome mondo_mondo_0009341_medgen_c1856113_omim_235730_orphanet_2152 MONDO:MONDO:0009341,MedGen:C1856113,OMIM:235730,Orphanet:2152 291 291 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ZEB2:single_exon:E8 0.460481 1970 ZEB2:exon_block:E6-E10 0.838488 20050 ZEB2:boundary_CDS_coverage:after_E1 1.000000 3642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence GALNS Mucopolysaccharidosis, MPS-IV-A mondo_mondo_0009659_medgen_c0086651_omim_253000_orphanet_309297_orphanet_582 MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582 291 291 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GALNS:single_exon:E5 0.116838 144 GALNS:exon_block:E4-E8 0.419244 5882 GALNS:boundary_CDS_coverage:after_E1 0.927835 1446 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 Smith-Lemli-Opitz syndrome mondo_mondo_0010035_medgen_c0175694_omim_270400_orphanet_818 MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818 291 291 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DHCR7:single_exon:E9 0.316151 1429 DHCR7:exon_block:E5-E9 0.835052 7943 DHCR7:boundary_CDS_coverage:after_E1 1.000000 1425 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 34 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 289 289 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGRIP1L:single_exon:E15 0.128028 453 RPGRIP1L:exon_block:E13-E17 0.352941 12008 RPGRIP1L:boundary_CDS_coverage:after_E1 0.993080 3945 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 123 record-level condition-associated architecture; not patient coverage or disease prevalence PYGM Glycogen storage disease, type V mondo_mondo_0009293_medgen_c0017924_omim_232600_orphanet_368 MONDO:MONDO:0009293,MedGen:C0017924,OMIM:232600,Orphanet:368 289 289 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PYGM:single_exon:E1 0.138408 319 PYGM:exon_block:E1-E5 0.339100 2196 PYGM:boundary_CDS_coverage:after_E1 0.861592 2283 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Rubinstein-Taybi syndrome due to CREBBP mutations mondo_mondo_0008393_medgen_c4551859_omim_180849_orphanet_353277_orphanet_783 MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783 289 289 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CREBBP:single_exon:E31 0.190311 4821 CREBBP:exon_block:E27-E31 0.321799 11762 CREBBP:boundary_CDS_coverage:after_E1 0.972318 7241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 147 record-level condition-associated architecture; not patient coverage or disease prevalence CLCN1 Congenital myotonia, autosomal dominant form mondo_mondo_0008055_medgen_c2936781_omim_160800_orphanet_614 MONDO:MONDO:0008055,MedGen:C2936781,OMIM:160800,Orphanet:614 288 288 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CLCN1:single_exon:E8 0.104167 126 CLCN1:exon_block:E4-E8 0.274306 9533 CLCN1:boundary_CDS_coverage:after_E1 0.937500 2784 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 107 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Coffin-Siris syndrome 1 mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 286 286 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ARID1B:single_exon:E20 0.265734 4613 ARID1B:exon_block:E16-E20 0.493007 14615 ARID1B:boundary_CDS_coverage:after_E1 0.891608 5325 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 91 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Hypertrophic cardiomyopathy human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 283 283 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.151943 256 MYH7:exon_block:E19-E23 0.402827 2175 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 176 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Becker muscular dystrophy mondo_mondo_0010311_medgen_c0917713_omim_300376_orphanet_98895 MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895 281 281 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E16 0.028470 180 DMD:exon_block:E32-E36 0.099644 25093 DMD:boundary_CDS_coverage:after_E1 0.985765 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 377 record-level condition-associated architecture; not patient coverage or disease prevalence MSH3 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 280 280 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MSH3:single_exon:E15 0.078571 169 MSH3:exon_block:E1-E5 0.292857 17709 MSH3:boundary_CDS_coverage:after_E1 0.917857 3174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH Multiple acyl-CoA dehydrogenase deficiency mondo_mondo_0009282_medgen_c0268596_omim_231680_orphanet_26791 MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791 278 278 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ETFDH:single_exon:E3 0.133094 230 ETFDH:exon_block:E9-E13 0.489209 10637 ETFDH:boundary_CDS_coverage:after_E1 0.967626 1817 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Hypertrophic cardiomyopathy 4 mondo_mondo_0007268_medgen_c1861862_omim_115197 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 277 277 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYBPC3:single_exon:E33 0.079422 187 MYBPC3:exon_block:E29-E33 0.238267 1681 MYBPC3:boundary_CDS_coverage:after_E1 0.996390 3797 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 165 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Developmental and epileptic encephalopathy 94 mondo_mondo_0014150_medgen_c3809278_omim_615369_orphanet_1942_orphanet_2382 MONDO:MONDO:0014150,MedGen:C3809278,OMIM:615369,Orphanet:1942,Orphanet:2382 275 275 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHD2:single_exon:E16 0.069091 191 CHD2:exon_block:E21-E25 0.200000 6267 CHD2:boundary_CDS_coverage:after_E1 0.996364 5484 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 185 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 274 274 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E31 0.058394 456 CEP290:exon_block:E38-E42 0.167883 8615 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 258 record-level condition-associated architecture; not patient coverage or disease prevalence KRIT1 Cerebral cavernous malformation human_phenotype_ontology_hp_0033522_mondo_mondo_0000820_medgen_c2919945_omim_116860_orphanet_221061 Human_Phenotype_Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860,Orphanet:221061 273 273 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KRIT1:single_exon:E8 0.117216 244 KRIT1:exon_block:E13-E17 0.424908 9784 KRIT1:boundary_CDS_coverage:after_E1 0.996337 2208 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 81 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 Mucopolysaccharidosis, MPS-IV-B mondo_mondo_0009660_medgen_c0086652_omim_253010_orphanet_309310_orphanet_582 MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582 272 272 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLB1:single_exon:E15 0.125000 255 GLB1:exon_block:E2-E6 0.411765 14625 GLB1:boundary_CDS_coverage:after_E1 0.959559 1956 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Ehlers-Danlos syndrome, classic type, 1 mondo_mondo_0019567_medgen_c0268335_omim_130000 MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000 272 272 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL5A1:single_exon:E65 0.058824 234 COL5A1:exon_block:E62-E66 0.154412 20244 COL5A1:boundary_CDS_coverage:after_E1 0.959559 5405 large_gene_or_donor_burden_stress_case donor_burden_stress 318 record-level condition-associated architecture; not patient coverage or disease prevalence HGD Alkaptonuria mondo_mondo_0008753_medgen_c0002066_omim_203500_orphanet_56 MONDO:MONDO:0008753,MedGen:C0002066,OMIM:203500,Orphanet:56 269 269 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HGD:single_exon:E13 0.144981 182 HGD:exon_block:E9-E13 0.472119 13220 HGD:boundary_CDS_coverage:after_E1 0.959108 1320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 Asphyxiating thoracic dystrophy 3 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 264 264 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYNC2H1:single_exon:E49 0.037879 249 DYNC2H1:exon_block:E38-E42 0.113636 8946 DYNC2H1:boundary_CDS_coverage:after_E1 0.988636 12726 large_gene_or_donor_burden_stress_case donor_burden_stress 434 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Congenital bilateral aplasia of vas deferens from CFTR mutation mondo_mondo_0010178_medgen_c0403814_omim_277180_orphanet_48 MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48 263 263 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CFTR:single_exon:E14 0.121673 724 CFTR:exon_block:E10-E14 0.319392 44017 CFTR:boundary_CDS_coverage:after_E1 0.980989 4387 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 127 record-level condition-associated architecture; not patient coverage or disease prevalence EVC2 Curry-Hall syndrome mondo_mondo_0008673_medgen_c0457013_omim_193530_orphanet_952 MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952 261 261 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EVC2:single_exon:E14 0.114943 455 EVC2:exon_block:E13-E17 0.337165 41286 EVC2:boundary_CDS_coverage:after_E1 0.908046 3696 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 102 record-level condition-associated architecture; not patient coverage or disease prevalence PCCB Propionic acidemia human_phenotype_ontology_hp_0003571_mondo_mondo_0011628_medgen_c0268579_omim_606054_orphanet_35 Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35 260 260 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PCCB:single_exon:E1 0.126923 219 PCCB:exon_block:E11-E15 0.380769 3367 PCCB:boundary_CDS_coverage:after_E1 0.869231 1434 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence LYST Chédiak-Higashi syndrome mondo_mondo_0008963_medgen_c0007965_omim_214500_orphanet_167 MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167 260 260 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LYST:single_exon:E5 0.161538 2080 LYST:exon_block:E3-E7 0.300000 25921 LYST:boundary_CDS_coverage:after_E1 1.000000 11403 large_gene_or_donor_burden_stress_case donor_burden_stress 249 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Wiedemann-Steiner syndrome mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 258 258 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KMT2A:single_exon:E27 0.267442 4249 KMT2A:exon_block:E3-E7 0.348837 10431 KMT2A:boundary_CDS_coverage:after_E1 0.972868 11484 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 171 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Leber congenital amaurosis 2 mondo_mondo_0008765_medgen_c1859844_omim_204100_orphanet_65 MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65 257 257 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPE65:single_exon:E9 0.105058 140 RPE65:exon_block:E5-E9 0.428016 5731 RPE65:boundary_CDS_coverage:after_E1 0.976654 1588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Joubert syndrome 5 mondo_mondo_0012432_medgen_c1857780_omim_610188_orphanet_2318 MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318 252 252 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E37 0.051587 200 CEP290:exon_block:E40-E44 0.150794 9397 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 260 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Familial focal epilepsy with variable foci mondo_mondo_0020310_medgen_c1858477_omim_ps604364_orphanet_98820 MONDO:MONDO:0020310,MedGen:C1858477,OMIM:PS604364,Orphanet:98820 249 249 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DEPDC5:single_exon:E6 0.064257 84 DEPDC5:exon_block:E4-E8 0.168675 17513 DEPDC5:boundary_CDS_coverage:after_E1 0.987952 4809 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 206 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2A Landau-Kleffner syndrome mondo_mondo_0009509_medgen_c0282512_omim_245570_orphanet_1945_orphanet_725_orphanet_98818 MONDO:MONDO:0009509,MedGen:C0282512,OMIM:245570,Orphanet:1945,Orphanet:725,Orphanet:98818 248 248 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GRIN2A:single_exon:E9 0.141129 230 GRIN2A:exon_block:E9-E13 0.483871 76245 GRIN2A:boundary_CDS_coverage:after_E1 1.000000 4392 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Alport syndrome mondo_mondo_0018965_medgen_c1567741_omim_ps301050_orphanet_63 MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63 247 247 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A4:single_exon:E33 0.052632 182 COL4A4:exon_block:E30-E34 0.210526 6048 COL4A4:boundary_CDS_coverage:after_E1 0.995951 5070 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 228 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Arrhythmogenic right ventricular dysplasia 9 mondo_mondo_0012180_medgen_c1836906_omim_609040 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 246 246 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKP2:single_exon:E3 0.243902 698 PKP2:exon_block:E2-E6 0.532520 38005 PKP2:boundary_CDS_coverage:after_E1 0.890244 2288 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Renal cysts and diabetes syndrome mondo_mondo_0007669_medgen_c0431693_omim_137920_orphanet_93111 MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111 245 245 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1B:single_exon:E2 0.322449 200 HNF1B:exon_block:E1-E5 0.857143 34557 HNF1B:boundary_CDS_coverage:after_E1 0.820408 1327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 37 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 Bifunctional peroxisomal enzyme deficiency mondo_mondo_0009855_medgen_c0342870_omim_261515_orphanet_300 MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300 244 244 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HSD17B4:single_exon:E13 0.073770 237 HSD17B4:exon_block:E7-E11 0.258197 16530 HSD17B4:boundary_CDS_coverage:after_E1 0.950820 2150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 112 record-level condition-associated architecture; not patient coverage or disease prevalence BTD Biotinidase deficiency mondo_mondo_0009665_medgen_c0220754_omim_253260_orphanet_79241 MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241 244 244 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BTD:single_exon:E4 0.700820 9399 BTD:exon_block:E1-E4 1.000000 51970 BTD:boundary_CDS_coverage:after_E1 0.971311 1569 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 12 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 243 243 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGRIP1L:single_exon:E15 0.123457 453 RPGRIP1L:exon_block:E13-E17 0.353909 12008 RPGRIP1L:boundary_CDS_coverage:after_E1 0.991770 3945 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 123 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Dyskeratosis congenita, autosomal recessive 5 mondo_mondo_0014076_medgen_c3554656_omim_615190 MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190 242 242 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RTEL1:single_exon:E29 0.095041 199 RTEL1:exon_block:E28-E32 0.318182 3233 RTEL1:boundary_CDS_coverage:after_E1 0.991736 3900 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 163 record-level condition-associated architecture; not patient coverage or disease prevalence OTC Ornithine carbamoyltransferase deficiency mondo_mondo_0010703_medgen_c0268542_omim_311250_orphanet_664 MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664 242 242 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OTC:single_exon:E5 0.194215 154 OTC:exon_block:E5-E9 0.644628 10725 OTC:boundary_CDS_coverage:after_E1 0.933884 985 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Pituitary adenoma 5, multiple types mondo_mondo_0054601_medgen_c4539685_omim_617540 MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540 242 242 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDH23:single_exon:E48 0.078512 459 CDH23:exon_block:E46-E50 0.173554 8291 CDH23:boundary_CDS_coverage:after_E1 1.000000 10062 large_gene_or_donor_burden_stress_case donor_burden_stress 335 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13A Chorea-acanthocytosis mondo_mondo_0008695_medgen_c0393576_omim_200150_orphanet_2388 MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388 241 241 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VPS13A:single_exon:E48 0.049793 396 VPS13A:exon_block:E45-E49 0.128631 17216 VPS13A:boundary_CDS_coverage:after_E1 0.979253 9422 large_gene_or_donor_burden_stress_case donor_burden_stress 350 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Hereditary factor IX deficiency disease mondo_mondo_0010604_mesh_d002836_medgen_c0008533_omim_306900_orphanet_98879 MONDO:MONDO:0010604,MeSH:D002836,MedGen:C0008533,OMIM:306900,Orphanet:98879 239 239 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis F9:single_exon:E8 0.439331 1936 F9:exon_block:E4-E8 0.815900 22384 F9:boundary_CDS_coverage:after_E1 0.949791 1295 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B Glanzmann thrombasthenia mondo_mondo_0100326_medgen_c0040015_omim_ps273800_orphanet_849 MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:849 237 237 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ITGA2B:single_exon:E4 0.105485 166 ITGA2B:exon_block:E1-E5 0.236287 4364 ITGA2B:boundary_CDS_coverage:after_E1 0.949367 2929 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 142 record-level condition-associated architecture; not patient coverage or disease prevalence LOXHD1 Autosomal recessive nonsyndromic hearing loss 77 mondo_mondo_0013119_medgen_c2746083_omim_613079_orphanet_90636 MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636 236 236 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LOXHD1:single_exon:E19 0.067797 463 LOXHD1:exon_block:E28-E32 0.182203 11224 LOXHD1:boundary_CDS_coverage:after_E1 0.974576 6689 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 196 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Meckel syndrome, type 4 mondo_mondo_0012626_medgen_c1970161_omim_611134_orphanet_564 MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564 235 235 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E37 0.055319 200 CEP290:exon_block:E37-E41 0.148936 6009 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 260 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Spastic paraplegia human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 234 234 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ZFYVE26:single_exon:E11 0.085470 609 ZFYVE26:exon_block:E11-E15 0.183761 8051 ZFYVE26:boundary_CDS_coverage:after_E1 0.995726 7617 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 199 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 234 234 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CC2D2A:single_exon:E36 0.064103 178 CC2D2A:exon_block:E26-E30 0.213675 12495 CC2D2A:boundary_CDS_coverage:after_E1 0.995726 4860 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 176 record-level condition-associated architecture; not patient coverage or disease prevalence LRPPRC Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type mondo_mondo_0009069_medgen_c1857355_omim_220111_orphanet_70472 MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111,Orphanet:70472 233 233 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LRPPRC:single_exon:E1 0.051502 191 LRPPRC:exon_block:E1-E5 0.201717 18996 LRPPRC:boundary_CDS_coverage:after_E1 0.944206 4033 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 181 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 233 233 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CC2D2A:single_exon:E36 0.064378 178 CC2D2A:exon_block:E26-E30 0.210300 12495 CC2D2A:boundary_CDS_coverage:after_E1 0.995708 4860 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 176 record-level condition-associated architecture; not patient coverage or disease prevalence MTM1 Severe X-linked myotubular myopathy mondo_mondo_0010683_medgen_c0410203_omim_310400_orphanet_596 MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400,Orphanet:596 232 232 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MTM1:single_exon:E11 0.129310 207 MTM1:exon_block:E8-E12 0.530172 18488 MTM1:boundary_CDS_coverage:after_E1 0.995690 1809 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Severe neonatal-onset encephalopathy with microcephaly mondo_mondo_0010397_medgen_c1968556_omim_300673_orphanet_209370 MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:209370 232 232 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MECP2:single_exon:E3 0.745690 9878 MECP2:exon_block:E1-E3 0.892241 76145 MECP2:boundary_CDS_coverage:after_E1 0.857759 1432 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Leber congenital amaurosis 10 mondo_mondo_0012723_medgen_c1857821_omim_611755_orphanet_65 MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65 232 232 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E37 0.056034 200 CEP290:exon_block:E36-E40 0.150862 6258 CEP290:boundary_CDS_coverage:after_E1 0.995690 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 260 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 GM1 gangliosidosis mondo_mondo_0018149_medgen_c0085131_orphanet_354 MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354 230 230 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLB1:single_exon:E15 0.117391 255 GLB1:exon_block:E2-E6 0.391304 14625 GLB1:boundary_CDS_coverage:after_E1 0.969565 1956 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence ASL Argininosuccinate lyase deficiency human_phenotype_ontology_hp_0025630_mondo_mondo_0008815_medgen_c0268547_omim_207900_orphanet_23 Human_Phenotype_Ontology:HP:0025630,MONDO:MONDO:0008815,MedGen:C0268547,OMIM:207900,Orphanet:23 230 230 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ASL:single_exon:E3 0.108696 195 ASL:exon_block:E3-E7 0.395652 4860 ASL:boundary_CDS_coverage:after_E1 1.000000 1392 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence SERPING1 Hereditary angioedema type 1 mondo_mondo_0015053_medgen_c2717906_omim_106100_orphanet_100050_orphanet_100051_orphanet_91378 MONDO:MONDO:0015053,MedGen:C2717906,OMIM:106100,Orphanet:100050,Orphanet:100051,Orphanet:91378 228 228 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SERPING1:single_exon:E8 0.232456 521 SERPING1:exon_block:E4-E8 0.723684 12814 SERPING1:boundary_CDS_coverage:after_E1 0.986842 1500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 31 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency mondo_mondo_0009612_medgen_c1855114_omim_251000_orphanet_27 MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27 228 228 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MMUT:single_exon:E3 0.201754 368 MMUT:exon_block:E2-E6 0.697368 8040 MMUT:boundary_CDS_coverage:after_E1 1.000000 2250 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence PMM2 PMM2-congenital disorder of glycosylation mondo_mondo_0008907_medgen_c0349653_omim_212065_orphanet_79318 MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065,Orphanet:79318 227 227 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PMM2:single_exon:E5 0.162996 100 PMM2:exon_block:E4-E8 0.660793 43010 PMM2:boundary_CDS_coverage:after_E1 0.898678 672 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence HADHA Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency mondo_mondo_0012173_medgen_c3711645_omim_609016_orphanet_5 MONDO:MONDO:0012173,MedGen:C3711645,OMIM:609016,Orphanet:5 227 227 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HADHA:single_exon:E15 0.083700 141 HADHA:exon_block:E15-E19 0.339207 3750 HADHA:boundary_CDS_coverage:after_E1 0.969163 2222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Maturity-onset diabetes of the young type 2 mondo_mondo_0007453_medgen_c0342277_omim_125851_orphanet_552 MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552 224 224 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GCK:single_exon:E9 0.191964 234 GCK:exon_block:E6-E10 0.656250 5585 GCK:boundary_CDS_coverage:after_E1 0.991071 1350 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Hematuria, benign familial, 1 mondo_mondo_0007709_medgen_cn376803_omim_141200 MONDO:MONDO:0007709,MedGen:CN376803,OMIM:141200 224 224 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A4:single_exon:E30 0.058036 171 COL4A4:exon_block:E28-E32 0.187500 7319 COL4A4:boundary_CDS_coverage:after_E1 1.000000 5070 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 230 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 223 223 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYBPC3:single_exon:E30 0.080717 140 MYBPC3:exon_block:E27-E31 0.246637 2396 MYBPC3:boundary_CDS_coverage:after_E1 0.991031 3797 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 164 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7A Menkes kinky-hair syndrome mondo_mondo_0010651_medgen_c0022716_omim_309400_orphanet_565 MONDO:MONDO:0010651,MedGen:C0022716,OMIM:309400,Orphanet:565 223 223 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ATP7A:single_exon:E4 0.116592 726 ATP7A:exon_block:E3-E7 0.327354 21022 ATP7A:boundary_CDS_coverage:after_E1 1.000000 4500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 222 222 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ENG:single_exon:E5 0.126126 166 ENG:exon_block:E4-E8 0.486486 2369 ENG:boundary_CDS_coverage:after_E1 0.959459 1907 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Autosomal recessive Alport syndrome mondo_mondo_0008762_medgen_c4746745_omim_203780_orphanet_63_orphanet_88919 MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919 222 222 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A3:single_exon:E25 0.045045 183 COL4A3:exon_block:E30-E34 0.144144 3906 COL4A3:boundary_CDS_coverage:after_E1 0.981982 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 251 record-level condition-associated architecture; not patient coverage or disease prevalence AIRE Polyglandular autoimmune syndrome, type 1 mondo_mondo_0009411_medgen_c0085859_omim_240300_orphanet_3453 MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453 222 222 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis AIRE:single_exon:E1 0.157658 263 AIRE:exon_block:E1-E5 0.454955 2583 AIRE:boundary_CDS_coverage:after_E1 0.837838 1503 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence UBE3A Angelman syndrome mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 221 221 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis UBE3A:single_exon:E6 0.366516 1247 UBE3A:exon_block:E5-E9 0.647059 19872 UBE3A:boundary_CDS_coverage:after_E1 1.000000 2616 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Alport syndrome 3b, autosomal recessive mondo_mondo_0957811_medgen_c5882699_omim_620536 MONDO:MONDO:0957811,MedGen:C5882699,OMIM:620536 221 221 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A3:single_exon:E26 0.049774 169 COL4A3:exon_block:E38-E42 0.149321 4669 COL4A3:boundary_CDS_coverage:after_E1 0.986425 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 250 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 219 219 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGR:single_exon:E15 0.621005 2838 RPGR:exon_block:E11-E15 0.721461 13045 RPGR:boundary_CDS_coverage:after_E1 0.986301 3428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Hereditary pancreatitis mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 216 216 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CFTR:single_exon:E14 0.115741 724 CFTR:exon_block:E10-E14 0.333333 44017 CFTR:boundary_CDS_coverage:after_E1 0.981481 4387 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 126 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Peroxisome biogenesis disorder 1A (Zellweger) mondo_mondo_0008953_medgen_c4721541_omim_214100 MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100 215 215 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PEX1:single_exon:E5 0.190698 767 PEX1:exon_block:E1-E5 0.320930 11245 PEX1:boundary_CDS_coverage:after_E1 0.953488 3720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Senior-Loken syndrome 6 mondo_mondo_0012433_medgen_c1857779_omim_610189_orphanet_3156 MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156 215 215 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E37 0.055814 200 CEP290:exon_block:E37-E41 0.153488 6009 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 260 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Usher syndrome type 1B mondo_mondo_0700087_medgen_c2931206 MONDO:MONDO:0700087,MedGen:C2931206 214 214 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E7 0.046729 143 MYO7A:exon_block:E3-E7 0.182243 14296 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 234 record-level condition-associated architecture; not patient coverage or disease prevalence BTK X-linked agammaglobulinemia with growth hormone deficiency mondo_mondo_0010615_medgen_c0472813_omim_307200_orphanet_231692_orphanet_631 MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200,Orphanet:231692,Orphanet:631 214 214 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BTK:single_exon:E18 0.130841 158 BTK:exon_block:E14-E18 0.420561 3762 BTK:boundary_CDS_coverage:after_E1 0.990654 1977 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 86 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Retinitis pigmentosa 20 mondo_mondo_0013425_medgen_c3151086_omim_613794_orphanet_791 MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791 213 213 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPE65:single_exon:E9 0.093897 140 RPE65:exon_block:E5-E9 0.413146 5731 RPE65:boundary_CDS_coverage:after_E1 0.967136 1588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Distal myopathy with anterior tibial onset mondo_mondo_0011721_medgen_c1847532_omim_606768_orphanet_178400 MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orphanet:178400 213 213 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYSF:single_exon:E47 0.061033 143 DYSF:exon_block:E44-E48 0.154930 8638 DYSF:boundary_CDS_coverage:after_E1 0.995305 6266 large_gene_or_donor_burden_stress_case donor_burden_stress 263 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Autosomal recessive nonsyndromic hearing loss 23 mondo_mondo_0012293_medgen_c1836027_omim_609533_orphanet_90636 MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636 212 212 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PCDH15:single_exon:E14 0.066038 194 PCDH15:exon_block:E11-E15 0.193396 63015 PCDH15:boundary_CDS_coverage:after_E1 1.000000 5220 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 164 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Autosomal recessive inherited pseudoxanthoma elasticum mondo_mondo_0009925_medgen_cn032334_omim_264800_orphanet_758 MONDO:MONDO:0009925,MedGen:CN032334,OMIM:264800,Orphanet:758 212 212 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC6:single_exon:E28 0.094340 159 ABCC6:exon_block:E24-E28 0.311321 8320 ABCC6:boundary_CDS_coverage:after_E1 0.985849 4473 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 147 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Microcephaly 5, primary, autosomal recessive mondo_mondo_0012106_medgen_c1837501_omim_608716_orphanet_2512 MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512 210 210 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ASPM:single_exon:E18 0.438095 4755 ASPM:exon_block:E14-E18 0.523810 22165 ASPM:boundary_CDS_coverage:after_E1 0.976190 10134 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 128 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Hereditary spastic paraplegia 15 mondo_mondo_0010044_medgen_c1849128_omim_270700_orphanet_100996 MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996 209 209 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ZFYVE26:single_exon:E21 0.114833 746 ZFYVE26:exon_block:E17-E21 0.215311 3454 ZFYVE26:boundary_CDS_coverage:after_E1 1.000000 7617 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 199 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Retinitis pigmentosa 3 mondo_mondo_0010227_medgen_c1845667_omim_300029_orphanet_791 MONDO:MONDO:0010227,MedGen:C1845667,OMIM:300029,Orphanet:791 209 209 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGR:single_exon:E15 0.741627 2838 RPGR:exon_block:E11-E15 0.808612 13045 RPGR:boundary_CDS_coverage:after_E1 0.990431 3428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence TGM1 Autosomal recessive congenital ichthyosis 1 mondo_mondo_0009441_medgen_c4551630_omim_242300 MONDO:MONDO:0009441,MedGen:C4551630,OMIM:242300 208 208 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TGM1:single_exon:E3 0.163462 189 TGM1:exon_block:E2-E6 0.475962 2651 TGM1:boundary_CDS_coverage:after_E1 1.000000 2451 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence GNE GNE myopathy mondo_mondo_0011603_medgen_c1853926_omim_605820_orphanet_602 MONDO:MONDO:0011603,MedGen:C1853926,OMIM:605820,Orphanet:602 208 208 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GNE:single_exon:E3 0.158654 452 GNE:exon_block:E3-E7 0.509615 19235 GNE:boundary_CDS_coverage:after_E1 0.961538 2166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence EVC Curry-Hall syndrome mondo_mondo_0008673_medgen_c0457013_omim_193530_orphanet_952 MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952 208 208 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EVC:single_exon:E1 0.091346 354 EVC:exon_block:E6-E10 0.302885 12218 EVC:boundary_CDS_coverage:after_E1 0.894231 2802 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 96 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Leber congenital amaurosis 1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 207 207 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GUCY2D:single_exon:E2 0.183575 730 GUCY2D:exon_block:E2-E6 0.381643 4490 GUCY2D:boundary_CDS_coverage:after_E1 0.990338 3309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 90 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Heterotopia, periventricular, X-linked dominant mondo_mondo_0010233_medgen_c1848213_omim_300049_orphanet_2149_orphanet_82004 MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004 207 207 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNA:single_exon:E2 0.077295 489 FLNA:exon_block:E2-E6 0.169082 4630 FLNA:boundary_CDS_coverage:after_E1 1.000000 7941 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 229 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Angelman syndrome-like angelman_syndrome_like MedGen:CN128785 207 207 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDKL5:single_exon:E12 0.169082 967 CDKL5:exon_block:E8-E12 0.483092 20606 CDKL5:boundary_CDS_coverage:after_E1 1.000000 2880 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 81 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Autosomal dominant hypocalcemia 1 mondo_mondo_0011013_medgen_c3715128_omim_601198 MONDO:MONDO:0011013,MedGen:C3715128,OMIM:601198 207 207 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CASR:single_exon:E7 0.347826 7943 CASR:exon_block:E3-E7 0.903382 34549 CASR:boundary_CDS_coverage:after_E1 0.995169 3234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 26 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Hyperinsulinemic hypoglycemia, familial, 1 mondo_mondo_0009734_medgen_c2931832_omim_256450_orphanet_276575_orphanet_276598 MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598 206 206 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC8:single_exon:E1 0.058252 217 ABCC8:exon_block:E1-E5 0.194175 15263 ABCC8:boundary_CDS_coverage:after_E1 0.941748 4595 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 187 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Achondrogenesis, type IB mondo_mondo_0010966_medgen_c0265274_omim_600972_orphanet_932_orphanet_93298 MONDO:MONDO:0010966,MedGen:C0265274,OMIM:600972,Orphanet:932,Orphanet:93298 205 205 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC26A2:single_exon:E3 0.663415 7108 SLC26A2:exon_block:E1-E3 0.995122 26643 SLC26A2:boundary_CDS_coverage:after_E1 0.985366 2217 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Familial hypocalciuric hypercalcemia mondo_mondo_0018458_medgen_c1809471_omim_ps145980_orphanet_405 MONDO:MONDO:0018458,MedGen:C1809471,OMIM:PS145980,Orphanet:405 205 205 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CASR:single_exon:E7 0.341463 7943 CASR:exon_block:E3-E7 0.897561 34549 CASR:boundary_CDS_coverage:after_E1 1.000000 3234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 26 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 204 204 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis USH2A:single_exon:E63 0.083333 1517 USH2A:exon_block:E61-E65 0.147059 77793 USH2A:boundary_CDS_coverage:after_E1 0.995098 15606 large_gene_or_donor_burden_stress_case donor_burden_stress 340 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Muscular dystrophy, limb-girdle, autosomal dominant 4 mondo_mondo_0029133_medgen_c4748295_omim_618129_orphanet_565909 MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129,Orphanet:565909 203 203 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CAPN3:single_exon:E10 0.113300 161 CAPN3:exon_block:E9-E13 0.290640 6203 CAPN3:boundary_CDS_coverage:after_E1 0.921182 2154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Generalized dominant dystrophic epidermolysis bullosa mondo_mondo_0007549_medgen_c0432322_omim_131750_orphanet_231568 MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750,Orphanet:231568 202 202 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.108911 201 COL7A1:exon_block:E74-E78 0.178218 863 COL7A1:boundary_CDS_coverage:after_E1 1.000000 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 548 record-level condition-associated architecture; not patient coverage or disease prevalence TCIRG1 Autosomal recessive osteopetrosis 1 mondo_mondo_0009815_medgen_c1850127_omim_259700_orphanet_667 MONDO:MONDO:0009815,MedGen:C1850127,OMIM:259700,Orphanet:667 199 199 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TCIRG1:single_exon:E12 0.110553 158 TCIRG1:exon_block:E8-E12 0.396985 3991 TCIRG1:boundary_CDS_coverage:after_E1 0.989950 2490 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome mondo_mondo_0011071_medgen_cn281654_orphanet_71290 MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:71290 199 199 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RUNX1:single_exon:E4 0.241206 254 RUNX1:exon_block:E4-E8 0.783920 87796 RUNX1:boundary_CDS_coverage:after_E1 1.000000 1440 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 31 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 199 199 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E23 0.291457 2295 DSP:exon_block:E20-E24 0.597990 9756 DSP:boundary_CDS_coverage:after_E1 0.974874 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 110 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Progressive familial intrahepatic cholestasis type 2 mondo_mondo_0011156_medgen_c3489789_omim_601847_orphanet_79304 MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304 198 198 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCB11:single_exon:E14 0.085859 204 ABCB11:exon_block:E12-E16 0.252525 7338 ABCB11:boundary_CDS_coverage:after_E1 1.000000 3963 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Developmental and epileptic encephalopathy, 7 mondo_mondo_0013387_medgen_c3150986_omim_613720_orphanet_439218 MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720,Orphanet:439218 197 197 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ2:single_exon:E4 0.197970 176 KCNQ2:exon_block:E3-E7 0.644670 6740 KCNQ2:boundary_CDS_coverage:after_E1 0.969543 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 75 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Adult hypophosphatasia mondo_mondo_1010154_medgen_c0268413_omim_146300_orphanet_247676_orphanet_436 MONDO:MONDO:1010154,MedGen:C0268413,OMIM:146300,Orphanet:247676,Orphanet:436 197 197 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALPL:single_exon:E6 0.142132 176 ALPL:exon_block:E6-E10 0.563452 11884 ALPL:boundary_CDS_coverage:after_E1 1.000000 1572 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Pitt-Hopkins syndrome mondo_mondo_0012589_medgen_c1970431_omim_610954_orphanet_2896 MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:2896 196 196 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TCF4:single_exon:E18 0.260204 230 TCF4:exon_block:E14-E18 0.540816 28545 TCF4:boundary_CDS_coverage:after_E1 0.989796 2013 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 90 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Rhabdoid tumor predisposition syndrome 2 mondo_mondo_0013224_medgen_c2750074_omim_613325_orphanet_231108_orphanet_69077 MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077 194 194 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SMARCA4:single_exon:E4 0.077320 405 SMARCA4:exon_block:E3-E7 0.226804 4171 SMARCA4:boundary_CDS_coverage:after_E1 0.984536 4941 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 165 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Usher syndrome type 1F mondo_mondo_0011186_medgen_c1865885_omim_602083_orphanet_231169_orphanet_886 MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886 194 194 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PCDH15:single_exon:E27 0.061856 216 PCDH15:exon_block:E29-E33 0.206186 20332 PCDH15:boundary_CDS_coverage:after_E1 0.994845 5220 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 166 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Generalized epilepsy with febrile seizures plus, type 2 mondo_mondo_0011461_medgen_c1858673_omim_604403_orphanet_36387 MONDO:MONDO:0011461,MedGen:C1858673,OMIM:604403,Orphanet:36387 193 193 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.165803 6610 SCN1A:exon_block:E25-E29 0.253886 13964 SCN1A:boundary_CDS_coverage:after_E1 0.994819 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 mondo_mondo_0014613_medgen_c4225346_omim_616373_orphanet_2032 MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032 193 193 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RTEL1:single_exon:E34 0.098446 323 RTEL1:exon_block:E30-E34 0.316062 2508 RTEL1:boundary_CDS_coverage:after_E1 0.989637 3900 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 163 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Long QT syndrome 1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 193 193 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E3 0.170984 127 KCNQ1:exon_block:E3-E7 0.512953 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.932642 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 192 192 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCC:single_exon:E2 0.125000 243 FANCC:exon_block:E2-E6 0.390625 78291 FANCC:boundary_CDS_coverage:after_E1 1.000000 1674 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence ENG Telangiectasia, hereditary hemorrhagic, type 1 mondo_mondo_0008535_medgen_c4551861_omim_187300_orphanet_774 MONDO:MONDO:0008535,MedGen:C4551861,OMIM:187300,Orphanet:774 192 192 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ENG:single_exon:E12 0.135417 258 ENG:exon_block:E3-E7 0.432292 5028 ENG:boundary_CDS_coverage:after_E1 0.906250 1907 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Hematuria, benign familial, 2 mondo_mondo_0958186_medgen_c5830421_omim_620320 MONDO:MONDO:0958186,MedGen:C5830421,OMIM:620320 192 192 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A3:single_exon:E26 0.052083 169 COL4A3:exon_block:E26-E30 0.156250 7642 COL4A3:boundary_CDS_coverage:after_E1 0.989583 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 249 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Heimler syndrome 1 medgen_c4551980_omim_234580_orphanet_3220 MedGen:C4551980,OMIM:234580,Orphanet:3220 191 191 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PEX1:single_exon:E5 0.167539 767 PEX1:exon_block:E1-E5 0.293194 11245 PEX1:boundary_CDS_coverage:after_E1 0.952880 3720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 Deafness-lymphedema-leukemia syndrome mondo_mondo_0013540_medgen_c3279664_omim_614038_orphanet_3226 MONDO:MONDO:0013540,MedGen:C3279664,OMIM:614038,Orphanet:3226 190 190 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GATA2:single_exon:E5 0.394737 126 GATA2:exon_block:E2-E6 0.989474 7650 GATA2:boundary_CDS_coverage:after_E1 0.989474 1440 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 21 record-level condition-associated architecture; not patient coverage or disease prevalence EHMT1 Kleefstra syndrome 1 mondo_mondo_0027407_medgen_c0795833_omim_610253_orphanet_261494 MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494 190 190 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EHMT1:single_exon:E3 0.084211 557 EHMT1:exon_block:E19-E23 0.252632 4602 EHMT1:boundary_CDS_coverage:after_E1 0.989474 3873 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 126 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 CDKL5 disorder mondo_mondo_0100039_medgen_cn296942 MONDO:MONDO:0100039,MedGen:CN296942 190 190 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDKL5:single_exon:E12 0.215789 967 CDKL5:exon_block:E8-E12 0.473684 20606 CDKL5:boundary_CDS_coverage:after_E1 0.994737 2880 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 81 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Bardet-Biedl syndrome 2 mondo_mondo_0014432_medgen_c2936863_omim_615981_orphanet_110 MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110 190 190 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BBS2:single_exon:E2 0.147368 228 BBS2:exon_block:E2-E6 0.384211 8561 BBS2:boundary_CDS_coverage:after_E1 0.968421 2046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Arthrogryposis multiplex congenita 6 mondo_mondo_0030281_medgen_c5543431_omim_619334 MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334 189 189 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RIF1:boundary_CDS_coverage:after_E1 1.000000 7416 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 189 189 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis AHI1:single_exon:E7 0.116402 560 AHI1:exon_block:E6-E10 0.317460 11901 AHI1:boundary_CDS_coverage:after_E1 1.000000 3588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 130 record-level condition-associated architecture; not patient coverage or disease prevalence CBS Classic homocystinuria mondo_mondo_0009352_medgen_c0751202_omim_236200_orphanet_394 MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394 187 187 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CBS:single_exon:E5 0.117647 135 CBS:exon_block:E8-E12 0.390374 4832 CBS:boundary_CDS_coverage:after_E1 0.994652 1653 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 74 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Catecholaminergic polymorphic ventricular tachycardia 1 mondo_mondo_0011484_medgen_c1631597_omim_604772_orphanet_3286 MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286 184 184 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR2:single_exon:E90 0.217391 1298 RYR2:exon_block:E86-E90 0.309783 12961 RYR2:boundary_CDS_coverage:after_E1 0.989130 14853 large_gene_or_donor_burden_stress_case donor_burden_stress 331 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 184 184 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBXL5:boundary_CDS_coverage:after_E1 1.000000 1989 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 183 183 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBXL5:boundary_CDS_coverage:after_E1 1.000000 1989 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence FANCI Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 182 182 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCI:single_exon:E23 0.060440 165 FANCI:exon_block:E23-E27 0.225275 7610 FANCI:boundary_CDS_coverage:after_E1 0.994505 3984 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 180 record-level condition-associated architecture; not patient coverage or disease prevalence CBS HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED medgen_c3150344 MedGen:C3150344 181 181 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CBS:single_exon:E5 0.160221 135 CBS:exon_block:E3-E7 0.458564 6815 CBS:boundary_CDS_coverage:after_E1 0.994475 1653 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 74 record-level condition-associated architecture; not patient coverage or disease prevalence TCOF1 Treacher Collins syndrome 1 mondo_mondo_0007944_medgen_cn315775_omim_154500_orphanet_861 MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861 180 180 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TCOF1:single_exon:E24 0.127778 561 TCOF1:exon_block:E21-E25 0.283333 6495 TCOF1:boundary_CDS_coverage:after_E1 0.977778 4359 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 122 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Saldino-Mainzer syndrome mondo_mondo_0009964_medgen_c1849437_omim_266920_orphanet_140969 MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969 180 180 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis IFT140:single_exon:E4 0.083333 222 IFT140:exon_block:E19-E23 0.233333 33351 IFT140:boundary_CDS_coverage:after_E1 0.988889 4386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 144 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 Fanconi anemia mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 179 179 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCD2:single_exon:E29 0.061453 144 FANCD2:exon_block:E29-E33 0.173184 11393 FANCD2:boundary_CDS_coverage:after_E1 0.994413 4353 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 207 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Cockayne syndrome type 2 mondo_mondo_0019570_medgen_c0751038_omim_133540_orphanet_191_orphanet_90322 MONDO:MONDO:0019570,MedGen:C0751038,OMIM:133540,Orphanet:191,Orphanet:90322 179 179 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC6:single_exon:E18 0.189944 708 ERCC6:exon_block:E2-E6 0.329609 27095 ERCC6:boundary_CDS_coverage:after_E1 0.994413 4479 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 97 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 179 179 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL3A1:single_exon:E39 0.061453 162 COL3A1:exon_block:E16-E20 0.156425 1471 COL3A1:boundary_CDS_coverage:after_E1 1.000000 4319 large_gene_or_donor_burden_stress_case donor_burden_stress 241 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC Fanconi anemia complementation group C mondo_mondo_0009213_medgen_c3468041_omim_227645_orphanet_84 MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84 178 178 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCC:single_exon:E13 0.106742 175 FANCC:exon_block:E2-E6 0.387640 78291 FANCC:boundary_CDS_coverage:after_E1 0.983146 1674 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 178 178 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC8:single_exon:E5 0.073034 243 ABCC8:exon_block:E1-E5 0.207865 15263 ABCC8:boundary_CDS_coverage:after_E1 0.949438 4595 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 186 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Hypercholesterolemia, autosomal dominant, type B mondo_mondo_0007751_medgen_c1704417_omim_144010 MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010 177 177 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis APOB:single_exon:E26 0.632768 7572 APOB:exon_block:E22-E26 0.745763 10466 APOB:boundary_CDS_coverage:after_E1 0.983051 13607 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 134 record-level condition-associated architecture; not patient coverage or disease prevalence PAX6 Irido-corneo-trabecular dysgenesis human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 176 176 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PAX6:single_exon:E5 0.221591 131 PAX6:exon_block:E5-E9 0.670455 8205 PAX6:boundary_CDS_coverage:after_E1 0.988636 1308 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 60 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 176 176 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E3 0.142045 127 KCNQ1:exon_block:E3-E7 0.528409 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.937500 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 176 176 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYSF:single_exon:E29 0.056818 143 DYSF:exon_block:E25-E29 0.153409 2791 DYSF:boundary_CDS_coverage:after_E1 0.971591 6266 large_gene_or_donor_burden_stress_case donor_burden_stress 266 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Autosomal recessive nonsyndromic hearing loss 1A mondo_mondo_0009076_medgen_c2673759_omim_220290_orphanet_90636 MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636 175 175 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.988571 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.988571 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Transient bullous dermolysis of the newborn mondo_mondo_0007548_medgen_c1851573_omim_131705_orphanet_79411 MONDO:MONDO:0007548,MedGen:C1851573,OMIM:131705,Orphanet:79411 175 175 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.040000 201 COL7A1:exon_block:E71-E75 0.085714 1090 COL7A1:boundary_CDS_coverage:after_E1 1.000000 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 540 record-level condition-associated architecture; not patient coverage or disease prevalence KCNH2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 174 174 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNH2:single_exon:E7 0.212644 388 KCNH2:exon_block:E3-E7 0.425287 8289 KCNH2:boundary_CDS_coverage:after_E1 0.977011 3401 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Autosomal recessive nonsyndromic hearing loss 12 mondo_mondo_0011067_medgen_c1832394_omim_601386_orphanet_90636 MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636 174 174 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDH23:single_exon:E48 0.074713 459 CDH23:exon_block:E46-E50 0.189655 8291 CDH23:boundary_CDS_coverage:after_E1 1.000000 10062 large_gene_or_donor_burden_stress_case donor_burden_stress 332 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Multiple epiphyseal dysplasia type 4 mondo_mondo_0009189_medgen_c1847593_omim_226900_orphanet_93307 MONDO:MONDO:0009189,MedGen:C1847593,OMIM:226900,Orphanet:93307 173 173 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC26A2:single_exon:E3 0.693642 7108 SLC26A2:exon_block:E1-E3 0.994220 26643 SLC26A2:boundary_CDS_coverage:after_E1 0.982659 2217 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Capillary malformation-arteriovenous malformation syndrome mondo_mondo_0012016_medgen_c1842180_omim_ps608354_orphanet_137667 MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667 173 173 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RASA1:single_exon:E1 0.127168 1108 RASA1:exon_block:E1-E5 0.265896 70209 RASA1:boundary_CDS_coverage:after_E1 0.867052 2602 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 117 record-level condition-associated architecture; not patient coverage or disease prevalence RARS2 Pontocerebellar hypoplasia type 6 mondo_mondo_0012683_medgen_c1969084_omim_611523_orphanet_166073 MONDO:MONDO:0012683,MedGen:C1969084,OMIM:611523,Orphanet:166073 173 173 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RARS2:single_exon:E1 0.104046 66 RARS2:exon_block:E14-E18 0.312139 2902 RARS2:boundary_CDS_coverage:after_E1 0.890173 1698 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections marfan_syndrome_loeys_dietz_syndrome_familial_thoracic_aortic_aneurysms_and_dissections MedGen:CN229799 173 173 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E25 0.040462 228 FBN1:exon_block:E10-E14 0.132948 10774 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 313 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Bethlem myopathy 1A mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 173 173 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL6A2:single_exon:E28 0.121387 895 COL6A2:exon_block:E5-E9 0.335260 2670 COL6A2:boundary_CDS_coverage:after_E1 0.976879 3057 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 129 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 Citrullinemia type I mondo_mondo_0008988_medgen_c4721769_omim_215700_orphanet_247525 MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525 173 173 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ASS1:single_exon:E12 0.138728 132 ASS1:exon_block:E10-E14 0.473988 19855 ASS1:boundary_CDS_coverage:after_E1 1.000000 1236 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Retinitis pigmentosa 19 mondo_mondo_0011137_medgen_c1866422_omim_601718_orphanet_791 MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791 173 173 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E14 0.063584 223 ABCA4:exon_block:E12-E16 0.208092 8207 ABCA4:boundary_CDS_coverage:after_E1 0.994220 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 232 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Cone-rod dystrophy 3 mondo_mondo_0011395_medgen_c1858806_omim_604116_orphanet_1872 MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872 173 173 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E13 0.057803 177 ABCA4:exon_block:E12-E16 0.184971 8207 ABCA4:boundary_CDS_coverage:after_E1 0.994220 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 230 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Intellectual disability, autosomal dominant 6 mondo_mondo_0013509_medgen_c3151411_omim_613970_orphanet_589547 MONDO:MONDO:0013509,MedGen:C3151411,OMIM:613970,Orphanet:589547 171 171 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GRIN2B:single_exon:E13 0.204678 239 GRIN2B:exon_block:E10-E14 0.631579 71496 GRIN2B:boundary_CDS_coverage:after_E1 1.000000 4452 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 59 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 170 170 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EYS:single_exon:E26 0.141176 1767 EYS:exon_block:E22-E26 0.211765 223355 EYS:boundary_CDS_coverage:after_E1 0.994118 9432 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 200 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Carnitine palmitoyltransferase II deficiency mondo_mondo_0015515_medgen_c0342790_orphanet_157 MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157 170 170 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPT2:single_exon:E4 0.611765 1305 CPT2:exon_block:E1-E5 0.988235 17374 CPT2:boundary_CDS_coverage:after_E1 0.894118 1822 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Infantile hypophosphatasia mondo_mondo_1010169_medgen_c0268412_omim_241500_orphanet_247651_orphanet_436 MONDO:MONDO:1010169,MedGen:C0268412,OMIM:241500,Orphanet:247651,Orphanet:436 170 170 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALPL:single_exon:E10 0.170588 192 ALPL:exon_block:E6-E10 0.564706 11884 ALPL:boundary_CDS_coverage:after_E1 1.000000 1572 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Diastrophic dysplasia mondo_mondo_0009107_medgen_c0220726_omim_222600_orphanet_628 MONDO:MONDO:0009107,MedGen:C0220726,OMIM:222600,Orphanet:628 169 169 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC26A2:single_exon:E3 0.721893 7108 SLC26A2:exon_block:E1-E3 0.994083 26643 SLC26A2:boundary_CDS_coverage:after_E1 0.988166 2217 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Familial hypobetalipoproteinemia 1 mondo_mondo_0014252_medgen_c4551990_omim_615558 MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558 169 169 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis APOB:single_exon:E26 0.615385 7572 APOB:exon_block:E22-E26 0.721893 10466 APOB:boundary_CDS_coverage:after_E1 0.982249 13607 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A DYRK1A-related intellectual disability syndrome mondo_mondo_0013578_medgen_c5568143_omim_614104_orphanet_464306 MONDO:MONDO:0013578,MedGen:C5568143,OMIM:614104,Orphanet:464306 168 168 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYRK1A:single_exon:E7 0.214286 287 DYRK1A:exon_block:E5-E9 0.684524 15621 DYRK1A:boundary_CDS_coverage:after_E1 1.000000 2262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 49 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Epidermolysis bullosa pruriginosa mondo_mondo_0011398_medgen_c1275114_omim_604129_orphanet_89843 MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843 168 168 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.041667 201 COL7A1:exon_block:E108-E112 0.095238 1104 COL7A1:boundary_CDS_coverage:after_E1 1.000000 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 538 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary arterial hypertension human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 168 168 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BMPR2:single_exon:E12 0.172619 1280 BMPR2:exon_block:E8-E12 0.452381 25738 BMPR2:boundary_CDS_coverage:after_E1 0.863095 3038 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence HPS3 Hermansky-Pudlak syndrome 3 mondo_mondo_0013555_medgen_c3888001_omim_614072_orphanet_231512_orphanet_79430 MONDO:MONDO:0013555,MedGen:C3888001,OMIM:614072,Orphanet:231512,Orphanet:79430 167 167 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HPS3:single_exon:E2 0.173653 495 HPS3:exon_block:E1-E5 0.449102 15909 HPS3:boundary_CDS_coverage:after_E1 0.922156 2795 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Pretibial dystrophic epidermolysis bullosa human_phenotype_ontology_hp_0012221_mondo_mondo_0007552_medgen_c0432321_omim_131850_orphanet_79410 Human_Phenotype_Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850,Orphanet:79410 167 167 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.041916 201 COL7A1:exon_block:E70-E74 0.083832 1097 COL7A1:boundary_CDS_coverage:after_E1 1.000000 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 541 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Developmental and epileptic encephalopathy, 4 mondo_mondo_0012812_medgen_c2677326_omim_612164_orphanet_1934_orphanet_33069_orphanet_599373 MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164,Orphanet:1934,Orphanet:33069,Orphanet:599373 165 165 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis STXBP1:single_exon:E18 0.109091 155 STXBP1:exon_block:E6-E10 0.333333 7086 STXBP1:boundary_CDS_coverage:after_E1 0.957576 1745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 86 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Peroxisome biogenesis disorder 1B mondo_mondo_0011101_medgen_c0282527_omim_601539_orphanet_44 MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44 164 164 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PEX1:single_exon:E5 0.195122 767 PEX1:exon_block:E1-E5 0.341463 11245 PEX1:boundary_CDS_coverage:after_E1 0.963415 3720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 Junctional epidermolysis bullosa gravis of Herlitz mondo_mondo_0009182_medgen_c0079683_omim_226700_orphanet_79404 MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404 161 161 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMB3:single_exon:E6 0.118012 192 LAMB3:exon_block:E6-E10 0.304348 4902 LAMB3:boundary_CDS_coverage:after_E1 1.000000 3516 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence ASXL3 Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome mondo_mondo_0014205_medgen_c4750837_omim_615485_orphanet_352577 MONDO:MONDO:0014205,MedGen:C4750837,OMIM:615485,Orphanet:352577 161 161 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ASXL3:single_exon:E11 0.478261 1957 ASXL3:exon_block:E9-E12 0.950311 19228 ASXL3:boundary_CDS_coverage:after_E1 0.981366 6690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 48 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy mondo_mondo_0000902_medgen_c0795950_omim_218000_orphanet_1496 MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000,Orphanet:1496 160 160 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC12A6:single_exon:E6 0.075000 147 SLC12A6:exon_block:E6-E10 0.262500 5619 SLC12A6:boundary_CDS_coverage:after_E1 1.000000 3450 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 121 record-level condition-associated architecture; not patient coverage or disease prevalence IDUA Hurler syndrome mondo_mondo_0011758_medgen_c0086795_omim_607014_orphanet_93473 MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014,Orphanet:93473 160 160 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis IDUA:single_exon:E14 0.137500 305 IDUA:exon_block:E5-E9 0.443750 1477 IDUA:boundary_CDS_coverage:after_E1 0.925000 1801 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence FRAS1 Fraser syndrome 1 mondo_mondo_0054737_medgen_c4551480_omim_219000_orphanet_2052 MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052 160 160 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FRAS1:single_exon:E5 0.056250 160 FRAS1:exon_block:E39-E43 0.118750 8311 FRAS1:boundary_CDS_coverage:after_E1 0.993750 11960 large_gene_or_donor_burden_stress_case donor_burden_stress 350 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia mondo_mondo_0007844_medgen_c1563720_omim_147950_orphanet_478 MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478 160 160 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FGFR1:single_exon:E3 0.125000 267 FGFR1:exon_block:E13-E17 0.381250 2143 FGFR1:boundary_CDS_coverage:after_E1 1.000000 2466 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 81 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Nonsyndromic congenital nail disorder 8 mondo_mondo_0011852_medgen_c1843761_omim_607523 MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523 160 160 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.043750 201 COL7A1:exon_block:E70-E74 0.087500 1097 COL7A1:boundary_CDS_coverage:after_E1 1.000000 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 544 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR RPGR-related retinopathy mondo_mondo_0100437_medgen_cn305589 MONDO:MONDO:0100437,MedGen:CN305589 159 159 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGR:single_exon:E15 0.465409 2838 RPGR:exon_block:E11-E15 0.603774 13045 RPGR:boundary_CDS_coverage:after_E1 0.974843 3428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Autosomal recessive nonsyndromic hearing loss 9 mondo_mondo_0010986_medgen_c1832828_omim_601071_orphanet_90636 MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636 159 159 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OTOF:single_exon:E24 0.062893 125 OTOF:exon_block:E13-E17 0.169811 4176 OTOF:boundary_CDS_coverage:after_E1 0.993711 5912 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 218 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Joubert syndrome 17 mondo_mondo_0013824_medgen_c3553264_omim_614615_orphanet_475 MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475 159 159 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPLANE1:single_exon:E12 0.075472 770 CPLANE1:exon_block:E11-E15 0.188679 6069 CPLANE1:boundary_CDS_coverage:after_E1 1.000000 9753 large_gene_or_donor_burden_stress_case donor_burden_stress 250 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Achromatopsia 3 mondo_mondo_0009875_medgen_c1849792_omim_262300_orphanet_49382 MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300,Orphanet:49382 159 159 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CNGB3:single_exon:E6 0.088050 209 CNGB3:exon_block:E9-E13 0.308176 18704 CNGB3:boundary_CDS_coverage:after_E1 0.905660 2298 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 82 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 Infantile GM1 gangliosidosis mondo_mondo_0009260_medgen_c0268271_omim_230500_orphanet_354_orphanet_79255 MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255 158 158 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLB1:single_exon:E6 0.113924 181 GLB1:exon_block:E2-E6 0.468354 14625 GLB1:boundary_CDS_coverage:after_E1 0.962025 1956 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A2 Atelosteogenesis type II mondo_mondo_0009727_medgen_c1850554_omim_256050_orphanet_56304 MONDO:MONDO:0009727,MedGen:C1850554,OMIM:256050,Orphanet:56304 157 157 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC26A2:single_exon:E3 0.713376 7108 SLC26A2:exon_block:E1-E3 0.993631 26643 SLC26A2:boundary_CDS_coverage:after_E1 0.987261 2217 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence FANCI Fanconi anemia complementation group I mondo_mondo_0012186_medgen_c1836861_omim_609053_orphanet_84 MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84 157 157 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCI:single_exon:E24 0.050955 180 FANCI:exon_block:E23-E27 0.216561 7610 FANCI:boundary_CDS_coverage:after_E1 0.993631 3984 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 179 record-level condition-associated architecture; not patient coverage or disease prevalence FANCD2 Fanconi anemia complementation group D2 mondo_mondo_0009214_medgen_c3160738_omim_227646_orphanet_84 MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84 157 157 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCD2:single_exon:E33 0.063694 111 FANCD2:exon_block:E25-E29 0.165605 8810 FANCD2:boundary_CDS_coverage:after_E1 0.993631 4353 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 209 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 Dominant dystrophic epidermolysis bullosa with absence of skin mondo_mondo_0007557_medgen_c0268371_omim_132000 MONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000 157 157 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.044586 201 COL7A1:exon_block:E70-E74 0.089172 1097 COL7A1:boundary_CDS_coverage:after_E1 1.000000 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 539 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 156 156 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E7 0.166667 111 KCNQ1:exon_block:E3-E7 0.634615 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.955128 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH11 Primary ciliary dyskinesia 7 mondo_mondo_0012748_medgen_c2678473_omim_611884_orphanet_244 MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244 156 156 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DNAH11:single_exon:E15 0.044872 333 DNAH11:exon_block:E14-E18 0.128205 10434 DNAH11:boundary_CDS_coverage:after_E1 0.961538 13197 large_gene_or_donor_burden_stress_case donor_burden_stress 387 record-level condition-associated architecture; not patient coverage or disease prevalence HADHA Mitochondrial trifunctional protein deficiency mondo_mondo_0012172_medgen_c1969443_omim_ps609015_orphanet_746 MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746 155 155 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HADHA:single_exon:E15 0.090323 141 HADHA:exon_block:E15-E19 0.354839 3750 HADHA:boundary_CDS_coverage:after_E1 0.993548 2222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Seizures, benign familial neonatal, 1 mondo_mondo_0007365_medgen_c3149074_omim_121200_orphanet_1949 MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200,Orphanet:1949 154 154 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ2:single_exon:E4 0.194805 176 KCNQ2:exon_block:E4-E8 0.538961 11026 KCNQ2:boundary_CDS_coverage:after_E1 0.954545 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 153 153 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PTCH1:single_exon:E2 0.124183 193 PTCH1:exon_block:E2-E6 0.339869 26210 PTCH1:boundary_CDS_coverage:after_E1 0.980392 4140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence IQSEC2 Intellectual disability, X-linked 1 gene_170530_mondo_mondo_0010656_medgen_c2931498_omim_309530_orphanet_777 Gene:170530,MONDO:MONDO:0010656,MedGen:C2931498,OMIM:309530,Orphanet:777 153 153 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis IQSEC2:single_exon:E5 0.202614 896 IQSEC2:exon_block:E3-E7 0.470588 7948 IQSEC2:boundary_CDS_coverage:after_E1 0.888889 3757 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 Bardet-Biedl syndrome 1 mondo_mondo_0008854_medgen_c2936862_omim_209900 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 153 153 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BBS1:single_exon:E11 0.104575 159 BBS1:exon_block:E9-E13 0.392157 5538 BBS1:boundary_CDS_coverage:after_E1 0.915033 1732 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Oto-palato-digital syndrome, type II mondo_mondo_0010571_medgen_c1844696_omim_304120_orphanet_669_orphanet_90652 MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652 151 151 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNA:single_exon:E22 0.072848 598 FLNA:exon_block:E2-E6 0.165563 4630 FLNA:boundary_CDS_coverage:after_E1 1.000000 7941 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 228 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Age related macular degeneration 2 mondo_mondo_0007932_medgen_c3495438_omim_153800 MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800 151 151 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E14 0.059603 223 ABCA4:exon_block:E12-E16 0.165563 8207 ABCA4:boundary_CDS_coverage:after_E1 0.993377 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 226 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 PKD1-related disorder pkd1_related_disorder . 150 150 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD1:single_exon:E15 0.300000 3620 PKD1:exon_block:E15-E19 0.420000 5781 PKD1:boundary_CDS_coverage:after_E1 0.973333 12694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 208 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Melnick-Needles syndrome mondo_mondo_0010650_medgen_c0025237_omim_309350_orphanet_2484 MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484 150 150 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNA:single_exon:E22 0.073333 598 FLNA:exon_block:E2-E6 0.153333 4630 FLNA:boundary_CDS_coverage:after_E1 1.000000 7941 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 228 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Capillary malformation-arteriovenous malformation syndrome mondo_mondo_0012016_medgen_c1842180_omim_ps608354_orphanet_137667 MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667 150 150 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CCNH:boundary_CDS_coverage:after_E1 1.000000 852 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 150 150 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BBS2:single_exon:E2 0.113333 228 BBS2:exon_block:E2-E6 0.326667 8561 BBS2:boundary_CDS_coverage:after_E1 0.940000 2046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 mondo_mondo_0100083_mesh_c563324_medgen_c1832388_omim_601399_orphanet_71290 MONDO:MONDO:0100083,MeSH:C563324,MedGen:C1832388,OMIM:601399,Orphanet:71290 147 147 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RUNX1:single_exon:E4 0.238095 254 RUNX1:exon_block:E4-E8 0.789116 87796 RUNX1:boundary_CDS_coverage:after_E1 1.000000 1440 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 31 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Primary pulmonary hypertension medgen_c0152171 MedGen:C0152171 147 147 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BMPR2:single_exon:E12 0.163265 1280 BMPR2:exon_block:E8-E12 0.530612 25738 BMPR2:boundary_CDS_coverage:after_E1 0.945578 3038 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Meckel-Gruber syndrome mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 146 146 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E16 0.089041 99 TMEM67:exon_block:E12-E16 0.246575 8075 TMEM67:boundary_CDS_coverage:after_E1 0.945205 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Joubert syndrome mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 146 146 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E16 0.089041 99 TMEM67:exon_block:E12-E16 0.246575 8075 TMEM67:boundary_CDS_coverage:after_E1 0.945205 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 mondo_mondo_0013155_medgen_c3150412_omim_613151 MONDO:MONDO:0013155,MedGen:C3150412,OMIM:613151 146 146 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POMGNT1:single_exon:E21 0.102740 110 POMGNT1:exon_block:E17-E21 0.321918 2766 POMGNT1:boundary_CDS_coverage:after_E1 0.979452 1980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 100 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Autosomal recessive limb-girdle muscular dystrophy type 2O mondo_mondo_0013161_medgen_c3150417_omim_613157_orphanet_206564 MONDO:MONDO:0013161,MedGen:C3150417,OMIM:613157,Orphanet:206564 146 146 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POMGNT1:single_exon:E21 0.102740 110 POMGNT1:exon_block:E17-E21 0.321918 2766 POMGNT1:boundary_CDS_coverage:after_E1 0.979452 1980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 100 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 RPE65-related recessive retinopathy mondo_mondo_0100368_medgen_cn305526 MONDO:MONDO:0100368,MedGen:CN305526 145 145 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPE65:single_exon:E9 0.117241 140 RPE65:exon_block:E2-E6 0.400000 7854 RPE65:boundary_CDS_coverage:after_E1 0.979310 1588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 GATA2 deficiency with susceptibility to MDS/AML mondo_mondo_0042982_medgen_cn300066 MONDO:MONDO:0042982,MedGen:CN300066 145 145 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GATA2:single_exon:E5 0.462069 126 GATA2:exon_block:E2-E6 0.986207 7650 GATA2:boundary_CDS_coverage:after_E1 0.986207 1440 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 21 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 Bardet-Biedl syndrome mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 145 145 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BBS1:single_exon:E4 0.124138 273 BBS1:exon_block:E10-E14 0.406897 6497 BBS1:boundary_CDS_coverage:after_E1 0.937931 1732 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Malignant hyperthermia, susceptibility to, 1 mondo_mondo_0007783_medgen_c2930980_omim_145600_orphanet_423 MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423 144 144 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E44 0.083333 187 RYR1:exon_block:E44-E48 0.208333 3093 RYR1:boundary_CDS_coverage:after_E1 0.993056 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 459 record-level condition-associated architecture; not patient coverage or disease prevalence FLNA Frontometaphyseal dysplasia mondo_mondo_0015942_medgen_c0265293_omim_ps305620_orphanet_1826 MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826 144 144 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNA:single_exon:E22 0.076389 598 FLNA:exon_block:E19-E23 0.159722 2417 FLNA:boundary_CDS_coverage:after_E1 1.000000 7941 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 227 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Hypertrophic cardiomyopathy 1 mondo_mondo_0008647_medgen_c3495498_omim_192600 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 142 142 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.140845 256 MYH7:exon_block:E19-E23 0.415493 2175 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 163 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Central core myopathy mondo_mondo_0007294_medgen_c5830701_omim_117000_orphanet_597 MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597 141 141 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E102 0.120567 157 RYR1:exon_block:E100-E104 0.234043 6210 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 446 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 141 141 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD1:single_exon:E15 0.276596 3620 PKD1:exon_block:E11-E15 0.382979 6674 PKD1:boundary_CDS_coverage:after_E1 0.971631 12694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 206 record-level condition-associated architecture; not patient coverage or disease prevalence ASS1 Citrullinemia mondo_mondo_0015991_medgen_c0175683_omim_ps215700_orphanet_187 MONDO:MONDO:0015991,MedGen:C0175683,OMIM:PS215700,Orphanet:187 141 141 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ASS1:single_exon:E12 0.156028 132 ASS1:exon_block:E10-E14 0.503546 19855 ASS1:boundary_CDS_coverage:after_E1 1.000000 1236 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 mondo_mondo_0009667_medgen_c3151519_omim_253280 MONDO:MONDO:0009667,MedGen:C3151519,OMIM:253280 140 140 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POMGNT1:single_exon:E17 0.100000 126 POMGNT1:exon_block:E17-E21 0.364286 2766 POMGNT1:boundary_CDS_coverage:after_E1 1.000000 1980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 100 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Cardiac anomalies - developmental delay - facial dysmorphism syndrome mondo_mondo_0014773_medgen_c5192431_omim_616789_orphanet_369891 MONDO:MONDO:0014773,MedGen:C5192431,OMIM:616789,Orphanet:369891 140 140 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MED13L:single_exon:E17 0.128571 938 MED13L:exon_block:E17-E21 0.300000 8841 MED13L:boundary_CDS_coverage:after_E1 0.971429 6558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 147 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 LZTR1-related schwannomatosis mondo_mondo_0014299_medgen_c3810283_omim_615670_orphanet_93921 MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921 140 140 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LZTR1:single_exon:E8 0.092857 140 LZTR1:exon_block:E6-E10 0.328571 3581 LZTR1:boundary_CDS_coverage:after_E1 0.928571 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 96 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Cone-rod dystrophy 6 mondo_mondo_0011143_medgen_c1866293_omim_601777_orphanet_1872 MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777,Orphanet:1872 140 140 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GUCY2D:single_exon:E2 0.150000 730 GUCY2D:exon_block:E12-E16 0.385714 1962 GUCY2D:boundary_CDS_coverage:after_E1 0.992857 3309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 90 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency mondo_mondo_0013364_medgen_c3150941_omim_613684_orphanet_353284_orphanet_783 MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783 139 139 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EP300:single_exon:E31 0.223022 3305 EP300:exon_block:E27-E31 0.417266 9672 EP300:boundary_CDS_coverage:after_E1 0.992806 7148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 147 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Stickler syndrome type 1 mondo_mondo_0007160_medgen_c2020284_omim_108300_orphanet_828_orphanet_90653 MONDO:MONDO:0007160,MedGen:C2020284,OMIM:108300,Orphanet:828,Orphanet:90653 139 139 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E42 0.079137 162 COL2A1:exon_block:E42-E46 0.201439 1439 COL2A1:boundary_CDS_coverage:after_E1 0.992806 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 254 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 139 139 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E11 0.057554 54 COL1A1:exon_block:E39-E43 0.158273 1009 COL1A1:boundary_CDS_coverage:after_E1 0.992806 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 244 record-level condition-associated architecture; not patient coverage or disease prevalence VWF von Willebrand disease type 3 mondo_mondo_0010191_medgen_c1264041_omim_277480_orphanet_166096 MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096 137 137 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VWF:single_exon:E28 0.153285 1379 VWF:exon_block:E25-E29 0.204380 7034 VWF:boundary_CDS_coverage:after_E1 0.985401 8439 large_gene_or_donor_burden_stress_case donor_burden_stress 244 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Cerebrooculofacioskeletal syndrome 2 mondo_mondo_0012553_medgen_c1853102_omim_610756 MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756 136 136 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC2:single_exon:E21 0.132353 144 ERCC2:exon_block:E18-E22 0.455882 1126 ERCC2:boundary_CDS_coverage:after_E1 0.992647 2275 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 107 record-level condition-associated architecture; not patient coverage or disease prevalence CPS1 Pulmonary hypertension, neonatal, susceptibility to mondo_mondo_0014151_medgen_c3714958_omim_615371 MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371 136 136 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPS1:single_exon:E20 0.080882 177 CPS1:exon_block:E16-E20 0.235294 10092 CPS1:boundary_CDS_coverage:after_E1 0.977941 4374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 178 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 135 135 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN8A:single_exon:E27 0.237037 6583 SCN8A:exon_block:E23-E27 0.429630 24170 SCN8A:boundary_CDS_coverage:after_E1 1.000000 5940 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 123 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency methylmalonic_aciduria_due_to_complete_methylmalonyl_coa_mutase_deficiency . 135 135 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MMUT:single_exon:E2 0.214815 424 MMUT:exon_block:E2-E6 0.733333 8040 MMUT:boundary_CDS_coverage:after_E1 1.000000 2250 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Brain small vessel disease 1 with or without ocular anomalies mondo_mondo_0008289_medgen_c4755307_omim_175780_orphanet_2940_orphanet_36383_orphanet_99810 MONDO:MONDO:0008289,MedGen:C4755307,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810 135 135 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A1:single_exon:E30 0.081481 151 COL4A1:exon_block:E28-E32 0.296296 5034 COL4A1:boundary_CDS_coverage:after_E1 0.977778 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 238 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Early-infantile DEE mondo_mondo_0800491_medgen_c0393706_orphanet_1934 MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 134 134 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis STXBP1:single_exon:E18 0.141791 155 STXBP1:exon_block:E14-E18 0.335821 6757 STXBP1:boundary_CDS_coverage:after_E1 0.977612 1745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 86 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 Tyrosinase-positive oculocutaneous albinism mondo_mondo_0008746_medgen_c0268495_omim_203200_orphanet_79432 MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432 134 134 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OCA2:single_exon:E19 0.097015 128 OCA2:exon_block:E17-E21 0.298507 84062 OCA2:boundary_CDS_coverage:after_E1 0.992537 2514 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 109 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Autosomal dominant nonsyndromic hearing loss 11 mondo_mondo_0011032_medgen_c1832475_omim_601317_orphanet_90635 MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635 134 134 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E7 0.059701 143 MYO7A:exon_block:E3-E7 0.179104 14296 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 232 record-level condition-associated architecture; not patient coverage or disease prevalence EYS Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 134 134 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EYS:single_exon:E43 0.201493 1818 EYS:exon_block:E39-E43 0.283582 68270 EYS:boundary_CDS_coverage:after_E1 1.000000 9432 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 193 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency mondo_mondo_0014336_medgen_c3810406_omim_615761_orphanet_404440 MONDO:MONDO:0014336,MedGen:C3810406,OMIM:615761,Orphanet:404440 133 133 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SETD5:single_exon:E14 0.142857 258 SETD5:exon_block:E13-E17 0.413534 8212 SETD5:boundary_CDS_coverage:after_E1 1.000000 4326 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 99 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Juvenile retinoschisis mondo_mondo_0010725_medgen_c3714753_omim_312700_orphanet_792 MONDO:MONDO:0010725,MedGen:C3714753,OMIM:312700,Orphanet:792 133 133 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RS1:single_exon:E6 0.285714 2469 RS1:exon_block:E2-E6 0.932331 17978 RS1:boundary_CDS_coverage:after_E1 0.939850 620 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 22 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency becker_muscular_dystrophy_cardiomyopathy_duchenne_muscular_dystrophy_dystrophin_deficiency . 132 132 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E13 0.053030 120 DMD:exon_block:E13-E17 0.151515 50718 DMD:boundary_CDS_coverage:after_E1 0.984848 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 363 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 131 131 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.145038 3497 SCN5A:exon_block:E13-E17 0.229008 18120 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 131 131 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPE65:single_exon:E3 0.129771 151 RPE65:exon_block:E3-E7 0.480916 7300 RPE65:boundary_CDS_coverage:after_E1 0.961832 1588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Maturity-onset diabetes of the young human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 131 131 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1A:single_exon:E2 0.236641 200 HNF1A:exon_block:E1-E5 0.702290 17871 HNF1A:boundary_CDS_coverage:after_E1 0.862595 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence BTK X-linked agammaglobulinemia mondo_mondo_0010421_medgen_c0221026_omim_300755_orphanet_229717_orphanet_47 MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755,Orphanet:229717,Orphanet:47 130 130 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BTK:single_exon:E18 0.115385 158 BTK:exon_block:E14-E18 0.361538 3762 BTK:boundary_CDS_coverage:after_E1 0.984615 1977 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 87 record-level condition-associated architecture; not patient coverage or disease prevalence PCNT Microcephalic osteodysplastic primordial dwarfism type II mondo_mondo_0008872_medgen_c0432246_omim_210720_orphanet_2637 MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637 129 129 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PCNT:single_exon:E15 0.069767 556 PCNT:exon_block:E11-E15 0.162791 13153 PCNT:boundary_CDS_coverage:after_E1 0.984496 9954 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 221 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 129 129 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.162791 256 MYH7:exon_block:E19-E23 0.410853 2175 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 161 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteogenesis imperfecta, perinatal lethal mondo_mondo_0008147_medgen_c0268358_omim_166210_orphanet_216804 MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210,Orphanet:216804 129 129 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E50 0.054264 243 COL1A1:exon_block:E39-E43 0.178295 1009 COL1A1:boundary_CDS_coverage:after_E1 0.984496 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 240 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Usher syndrome type 1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 129 129 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDH23:single_exon:E48 0.116279 459 CDH23:exon_block:E46-E50 0.232558 8291 CDH23:boundary_CDS_coverage:after_E1 1.000000 10062 large_gene_or_donor_burden_stress_case donor_burden_stress 317 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7A X-linked distal spinal muscular atrophy type 3 mondo_mondo_0010338_medgen_c1845359_omim_300489_orphanet_139557 MONDO:MONDO:0010338,MedGen:C1845359,OMIM:300489,Orphanet:139557 129 129 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ATP7A:single_exon:E3 0.178295 490 ATP7A:exon_block:E3-E7 0.449612 21022 ATP7A:boundary_CDS_coverage:after_E1 1.000000 4500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 103 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 GM1 gangliosidosis type 2 mondo_mondo_0009261_medgen_c0268272_omim_230600_orphanet_354_orphanet_79256 MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600,Orphanet:354,Orphanet:79256 128 128 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLB1:single_exon:E2 0.109375 170 GLB1:exon_block:E2-E6 0.445312 14625 GLB1:boundary_CDS_coverage:after_E1 0.968750 1956 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Usher syndrome type 2C mondo_mondo_0011558_medgen_c2931213_omim_605472_orphanet_231178_orphanet_886 MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886 128 128 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ADGRV1:single_exon:E20 0.039062 744 ADGRV1:exon_block:E18-E22 0.109375 21119 ADGRV1:boundary_CDS_coverage:after_E1 0.992188 18896 large_gene_or_donor_burden_stress_case donor_burden_stress 384 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Amyloidosis, hereditary systemic 1 mondo_mondo_0971004_medgen_c2751492_omim_105210_orphanet_85447_orphanet_85451 MONDO:MONDO:0971004,MedGen:C2751492,OMIM:105210,Orphanet:85447,Orphanet:85451 127 127 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TTR:single_exon:E3 0.488189 136 TTR:exon_block:E2-E4 1.000000 5926 TTR:boundary_CDS_coverage:after_E1 1.000000 372 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 11 record-level condition-associated architecture; not patient coverage or disease prevalence GNE Sialuria mondo_mondo_0010028_medgen_c0342853_omim_269921_orphanet_3166 MONDO:MONDO:0010028,MedGen:C0342853,OMIM:269921,Orphanet:3166 127 127 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GNE:single_exon:E3 0.173228 452 GNE:exon_block:E2-E6 0.535433 20377 GNE:boundary_CDS_coverage:after_E1 0.960630 2166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7A Cutis laxa, X-linked mondo_mondo_0010572_medgen_c0268353_omim_304150_orphanet_198 MONDO:MONDO:0010572,MedGen:C0268353,OMIM:304150,Orphanet:198 127 127 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ATP7A:single_exon:E3 0.173228 490 ATP7A:exon_block:E3-E7 0.440945 21022 ATP7A:boundary_CDS_coverage:after_E1 1.000000 4500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 103 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 GM1 gangliosidosis type 3 mondo_mondo_0009262_medgen_c0268273_omim_230650_orphanet_79257 MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650,Orphanet:79257 126 126 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLB1:single_exon:E2 0.111111 170 GLB1:exon_block:E2-E6 0.452381 14625 GLB1:boundary_CDS_coverage:after_E1 0.968254 1956 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 125 125 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CRB1:single_exon:E7 0.216000 548 CRB1:exon_block:E6-E10 0.664000 17676 CRB1:boundary_CDS_coverage:after_E1 0.976000 4148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 52 record-level condition-associated architecture; not patient coverage or disease prevalence GLDC Glycine encephalopathy 1 mondo_mondo_0958179_medgen_cn376801_omim_605899 MONDO:MONDO:0958179,MedGen:CN376801,OMIM:605899 123 123 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLDC:single_exon:E19 0.097561 113 GLDC:exon_block:E15-E19 0.308943 32615 GLDC:boundary_CDS_coverage:after_E1 0.934959 2805 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 117 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Rubinstein-Taybi syndrome mondo_mondo_0019188_medgen_c0035934_omim_ps180849_orphanet_783 MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783 123 123 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CREBBP:single_exon:E31 0.146341 4821 CREBBP:exon_block:E27-E31 0.341463 11762 CREBBP:boundary_CDS_coverage:after_E1 0.959350 7241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 143 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 123 123 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BEST1:single_exon:E8 0.227642 81 BEST1:exon_block:E2-E6 0.634146 5694 BEST1:boundary_CDS_coverage:after_E1 0.991870 1755 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 46 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Stargardt disease mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 122 122 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E44 0.065574 142 ABCA4:exon_block:E35-E39 0.180328 10148 ABCA4:boundary_CDS_coverage:after_E1 0.967213 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 235 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 121 121 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis USH2A:single_exon:E63 0.115702 1517 USH2A:exon_block:E60-E64 0.223140 70566 USH2A:boundary_CDS_coverage:after_E1 0.991736 15606 large_gene_or_donor_burden_stress_case donor_burden_stress 327 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Joubert syndrome 3 mondo_mondo_0012078_medgen_c1837713_omim_608629_orphanet_220493 MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493 121 121 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis AHI1:single_exon:E16 0.115702 230 AHI1:exon_block:E12-E16 0.330579 15449 AHI1:boundary_CDS_coverage:after_E1 1.000000 3588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 125 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Orofaciodigital syndrome type 6 mondo_mondo_0010176_medgen_c2745997_omim_277170_orphanet_2754 MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170,Orphanet:2754 120 120 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPLANE1:single_exon:E12 0.100000 770 CPLANE1:exon_block:E9-E13 0.225000 6518 CPLANE1:boundary_CDS_coverage:after_E1 1.000000 9753 large_gene_or_donor_burden_stress_case donor_burden_stress 246 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL Childhood hypophosphatasia mondo_mondo_1010168_medgen_c0220743_omim_241510_orphanet_247667_orphanet_436 MONDO:MONDO:1010168,MedGen:C0220743,OMIM:241510,Orphanet:247667,Orphanet:436 120 120 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALPL:single_exon:E10 0.191667 192 ALPL:exon_block:E6-E10 0.591667 11884 ALPL:boundary_CDS_coverage:after_E1 1.000000 1572 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 Benign recurrent intrahepatic cholestasis type 2 mondo_mondo_0011559_medgen_c2608083_omim_605479_orphanet_65682_orphanet_99961 MONDO:MONDO:0011559,MedGen:C2608083,OMIM:605479,Orphanet:65682,Orphanet:99961 120 120 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCB11:single_exon:E14 0.075000 204 ABCB11:exon_block:E12-E16 0.250000 7338 ABCB11:boundary_CDS_coverage:after_E1 1.000000 3963 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Wolfram syndrome 1 mondo_mondo_0009101_medgen_c4551693_omim_222300_orphanet_3463 MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463 119 119 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis WFS1:single_exon:E8 0.781513 2609 WFS1:exon_block:E4-E8 0.957983 14279 WFS1:boundary_CDS_coverage:after_E1 1.000000 2670 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 30 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 118 118 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E24 0.389831 4073 DSP:exon_block:E20-E24 0.711864 9756 DSP:boundary_CDS_coverage:after_E1 0.991525 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES medgen_c1856895_omim_227220 MedGen:C1856895,OMIM:227220 117 117 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OCA2:single_exon:E4 0.085470 189 OCA2:exon_block:E19-E23 0.299145 81296 OCA2:boundary_CDS_coverage:after_E1 1.000000 2514 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 110 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 117 117 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNC:single_exon:E22 0.059829 174 FLNC:exon_block:E20-E24 0.222222 2902 FLNC:boundary_CDS_coverage:after_E1 0.974359 7823 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 226 record-level condition-associated architecture; not patient coverage or disease prevalence MSH3 Endometrial carcinoma human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 116 116 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MSH3:single_exon:E1 0.129310 313 MSH3:exon_block:E1-E5 0.362069 17709 MSH3:boundary_CDS_coverage:after_E1 0.870690 3174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 111 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Joubert syndrome 9 mondo_mondo_0012849_medgen_c2676788_omim_612285_orphanet_2318 MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318 115 115 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CC2D2A:single_exon:E36 0.078261 178 CC2D2A:exon_block:E29-E33 0.191304 15530 CC2D2A:boundary_CDS_coverage:after_E1 1.000000 4860 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 173 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 114 114 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGR:single_exon:E15 0.570175 2838 RPGR:exon_block:E11-E15 0.640351 13045 RPGR:boundary_CDS_coverage:after_E1 0.991228 3428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteogenesis imperfecta with normal sclerae, dominant form mondo_mondo_0008148_medgen_c0268363_omim_166220_orphanet_216820_orphanet_666 MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220,Orphanet:216820,Orphanet:666 114 114 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E17 0.070175 99 COL1A1:exon_block:E15-E19 0.157895 968 COL1A1:boundary_CDS_coverage:after_E1 0.982456 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 236 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Autosomal dominant polycystic kidney disease mondo_mondo_0004691_medgen_c0085413_orphanet_730 MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 113 113 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD1:single_exon:E15 0.221239 3620 PKD1:exon_block:E11-E15 0.318584 6674 PKD1:boundary_CDS_coverage:after_E1 0.946903 12694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 213 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Epilepsy, familial focal, with variable foci 1 mondo_mondo_0024556_medgen_c4551983_omim_604364 MONDO:MONDO:0024556,MedGen:C4551983,OMIM:604364 113 113 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DEPDC5:single_exon:E21 0.070796 221 DEPDC5:exon_block:E18-E22 0.203540 13104 DEPDC5:boundary_CDS_coverage:after_E1 1.000000 4809 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 202 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Achromatopsia 2 mondo_mondo_0009003_medgen_c1857618_omim_216900_orphanet_49382 MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382 113 113 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CNGA3:single_exon:E8 0.690265 2758 CNGA3:exon_block:E4-E8 0.946903 18427 CNGA3:boundary_CDS_coverage:after_E1 0.991150 2082 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 31 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Usher syndrome type 1D mondo_mondo_0010984_medgen_c1832845_omim_601067_orphanet_231169_orphanet_886 MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886 113 113 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDH23:single_exon:E48 0.079646 459 CDH23:exon_block:E46-E50 0.176991 8291 CDH23:boundary_CDS_coverage:after_E1 1.000000 10062 large_gene_or_donor_burden_stress_case donor_burden_stress 313 record-level condition-associated architecture; not patient coverage or disease prevalence RAD50 Nijmegen breakage syndrome-like disorder mondo_mondo_0013118_medgen_c2751318_omim_613078_orphanet_240760 MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760 112 112 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RAD50:single_exon:E8 0.089286 194 RAD50:exon_block:E19-E23 0.250000 28941 RAD50:boundary_CDS_coverage:after_E1 0.973214 3807 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 117 record-level condition-associated architecture; not patient coverage or disease prevalence PCDH15 Usher syndrome type 1D mondo_mondo_0010984_medgen_c1832845_omim_601067_orphanet_231169_orphanet_886 MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886 112 112 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PCDH15:single_exon:E18 0.071429 129 PCDH15:exon_block:E29-E33 0.241071 20332 PCDH15:boundary_CDS_coverage:after_E1 1.000000 5220 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 163 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Homozygous familial hypercholesterolemia mondo_mondo_0018328_medgen_c0342881_orphanet_391665 MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:391665 112 112 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LDLR:single_exon:E4 0.205357 381 LDLR:exon_block:E3-E7 0.517857 8108 LDLR:boundary_CDS_coverage:after_E1 0.964286 2513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 81 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Retinitis pigmentosa 80 mondo_mondo_0054708_medgen_c4540439_omim_617781 MONDO:MONDO:0054708,MedGen:C4540439,OMIM:617781 112 112 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis IFT140:single_exon:E4 0.071429 222 IFT140:exon_block:E17-E21 0.241071 38276 IFT140:boundary_CDS_coverage:after_E1 1.000000 4386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 144 record-level condition-associated architecture; not patient coverage or disease prevalence F9 Thrombophilia, X-linked, due to factor 9 defect mondo_mondo_0010432_medgen_c2749016_omim_300807 MONDO:MONDO:0010432,MedGen:C2749016,OMIM:300807 111 111 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis F9:single_exon:E8 0.396396 1936 F9:exon_block:E4-E8 0.783784 22384 F9:boundary_CDS_coverage:after_E1 0.936937 1295 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 110 110 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E3 0.154545 127 KCNQ1:exon_block:E3-E7 0.454545 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.972727 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Meckel syndrome, type 6 mondo_mondo_0012848_medgen_c2676790_omim_612284_orphanet_564 MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564 110 110 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CC2D2A:single_exon:E36 0.090909 178 CC2D2A:exon_block:E12-E16 0.190909 10691 CC2D2A:boundary_CDS_coverage:after_E1 1.000000 4860 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 171 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Hereditary hyperinsulinism hereditary_hyperinsulinism . 110 110 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC8:single_exon:E5 0.081818 243 ABCC8:exon_block:E1-E5 0.200000 15263 ABCC8:boundary_CDS_coverage:after_E1 0.954545 4595 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 181 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Joubert syndrome 7 mondo_mondo_0012694_medgen_c1969053_omim_611560_orphanet_220497 MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497 109 109 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGRIP1L:single_exon:E15 0.155963 453 RPGRIP1L:exon_block:E13-E17 0.431193 12008 RPGRIP1L:boundary_CDS_coverage:after_E1 1.000000 3945 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 122 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 mondo_mondo_0000914_medgen_c4551768_omim_125310_orphanet_136 MONDO:MONDO:0000914,MedGen:C4551768,OMIM:125310,Orphanet:136 109 109 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NOTCH3:single_exon:E4 0.284404 339 NOTCH3:exon_block:E2-E6 0.568807 6155 NOTCH3:boundary_CDS_coverage:after_E1 0.990826 6845 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 118 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Charcot-Marie-Tooth disease axonal type 2X mondo_mondo_0014726_medgen_c5569024_omim_616668_orphanet_466775 MONDO:MONDO:0014726,MedGen:C5569024,OMIM:616668,Orphanet:466775 108 108 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPG11:single_exon:E30 0.120370 745 SPG11:exon_block:E30-E34 0.250000 14034 SPG11:boundary_CDS_coverage:after_E1 0.981481 7072 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 185 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Brugada syndrome mondo_mondo_0015263_medgen_c1142166_omim_ps601144_orphanet_130 MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130 108 108 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.138889 3497 SCN5A:exon_block:E24-E28 0.277778 9223 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 130 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Congenital multicore myopathy with external ophthalmoplegia human_phenotype_ontology_hp_0003789_human_phenotype_ontology_hp_0003804_mondo_mondo_0009712_medgen_c1850674_omim_255320_orphanet_598_orphanet_98905 Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905 108 108 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E91 0.055556 813 RYR1:exon_block:E44-E48 0.120370 3093 RYR1:boundary_CDS_coverage:after_E1 0.990741 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 455 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Developmental and epileptic encephalopathy, 13 mondo_mondo_0013801_medgen_c3281191_omim_614558_orphanet_442835 MONDO:MONDO:0013801,MedGen:C3281191,OMIM:614558,Orphanet:442835 107 107 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN8A:single_exon:E27 0.205607 6583 SCN8A:exon_block:E23-E27 0.383178 24170 SCN8A:boundary_CDS_coverage:after_E1 1.000000 5940 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 109 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Amyotrophic lateral sclerosis type 5 mondo_mondo_0011196_medgen_c1865864_omim_602099_orphanet_300605 MONDO:MONDO:0011196,MedGen:C1865864,OMIM:602099,Orphanet:300605 106 106 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPG11:single_exon:E30 0.103774 745 SPG11:exon_block:E30-E34 0.254717 14034 SPG11:boundary_CDS_coverage:after_E1 0.981132 7072 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 186 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 106 106 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CRB1:single_exon:E9 0.226415 907 CRB1:exon_block:E5-E9 0.707547 78782 CRB1:boundary_CDS_coverage:after_E1 0.990566 4148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 52 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 Perrault syndrome mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 105 105 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HSD17B4:single_exon:E11 0.085714 129 HSD17B4:exon_block:E7-E11 0.295238 16530 HSD17B4:boundary_CDS_coverage:after_E1 0.971429 2150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 110 record-level condition-associated architecture; not patient coverage or disease prevalence DUOX2 Thyroid dyshormonogenesis 6 mondo_mondo_0011792_medgen_c1846632_omim_607200_orphanet_226316_orphanet_95716 MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:226316,Orphanet:95716 105 105 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DUOX2:single_exon:E24 0.085714 179 DUOX2:exon_block:E24-E28 0.228571 2615 DUOX2:boundary_CDS_coverage:after_E1 1.000000 4644 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 159 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Waardenburg syndrome type 4C mondo_mondo_0013202_medgen_c2750452_omim_613266_orphanet_897 MONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266,Orphanet:897 104 104 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SOX10:single_exon:E2 0.461538 512 SOX10:exon_block:E1-E4 0.990385 12244 SOX10:boundary_CDS_coverage:after_E1 0.980769 1398 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 12 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Waardenburg syndrome type 4C mondo_mondo_0013202_medgen_c2750452_omim_613266_orphanet_897 MONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266,Orphanet:897 104 104 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLR2F:boundary_CDS_coverage:after_E1 0.990385 361 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Osteogenesis imperfecta with normal sclerae, dominant form mondo_mondo_0008148_medgen_c0268363_omim_166220_orphanet_216820_orphanet_666 MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220,Orphanet:216820,Orphanet:666 104 104 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E17 0.076923 99 COL1A2:exon_block:E17-E21 0.259615 1206 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 213 record-level condition-associated architecture; not patient coverage or disease prevalence BCKDHB Maple syrup urine disease type 1B mondo_mondo_0023692_medgen_c2930990_omim_620698 MONDO:MONDO:0023692,MedGen:C2930990,OMIM:620698 104 104 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BCKDHB:single_exon:E5 0.298077 156 BCKDHB:exon_block:E1-E5 0.644231 62360 BCKDHB:boundary_CDS_coverage:after_E1 0.826923 980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Ichthyosis vulgaris mondo_mondo_0024304_medgen_c0079584_omim_146700 MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700 103 103 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLG:single_exon:E3 0.980583 12583 FLG:exon_block:E2-E3 1.000000 13313 FLG:boundary_CDS_coverage:after_E1 1.000000 12183 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 7 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Maturity-onset diabetes of the young type 3 mondo_mondo_0010894_medgen_c1838100_omim_600496_orphanet_552 MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552 102 102 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1A:single_exon:E4 0.215686 242 HNF1A:exon_block:E1-E5 0.637255 17871 HNF1A:boundary_CDS_coverage:after_E1 0.862745 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB Hereditary spherocytosis type 2 mondo_mondo_0000913_medgen_c2674219_omim_616649_orphanet_822 MONDO:MONDO:0000913,MedGen:C2674219,OMIM:616649,Orphanet:822 101 101 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPTB:single_exon:E14 0.158416 871 SPTB:exon_block:E12-E16 0.356436 9236 SPTB:boundary_CDS_coverage:after_E1 1.000000 6984 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 157 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 99 99 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SMARCA4:single_exon:E19 0.090909 243 SMARCA4:exon_block:E2-E6 0.202020 3804 SMARCA4:boundary_CDS_coverage:after_E1 1.000000 4941 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 162 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 98 98 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E5 0.061224 185 MYO7A:exon_block:E3-E7 0.244898 14296 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 223 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Severe intellectual disability-progressive spastic diplegia syndrome mondo_mondo_0014035_medgen_c3554449_omim_615075_orphanet_404473 MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473 97 97 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CTNNB1:single_exon:E9 0.154639 339 CTNNB1:exon_block:E6-E10 0.474227 8638 CTNNB1:boundary_CDS_coverage:after_E1 1.000000 2343 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 64 record-level condition-associated architecture; not patient coverage or disease prevalence NPC1 Niemann-Pick disease, type C mondo_mondo_0018982_medgen_c0220756_orphanet_646 MONDO:MONDO:0018982,MedGen:C0220756,Orphanet:646 96 96 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NPC1:single_exon:E24 0.114583 163 NPC1:exon_block:E20-E24 0.385417 5317 NPC1:boundary_CDS_coverage:after_E1 0.989583 3777 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 114 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Developmental and epileptic encephalopathy, 27 mondo_mondo_0014505_medgen_c4015316_omim_616139_orphanet_3451 MONDO:MONDO:0014505,MedGen:C4015316,OMIM:616139,Orphanet:3451 96 96 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GRIN2B:single_exon:E13 0.229167 239 GRIN2B:exon_block:E10-E14 0.687500 71496 GRIN2B:boundary_CDS_coverage:after_E1 1.000000 4452 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 59 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteogenesis imperfecta type III mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 96 96 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E31 0.072917 99 COL1A1:exon_block:E47-E51 0.166667 3022 COL1A1:boundary_CDS_coverage:after_E1 0.968750 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 235 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Juvenile retinoschisis mondo_mondo_0010725_medgen_c3714753_omim_312700_orphanet_792 MONDO:MONDO:0010725,MedGen:C3714753,OMIM:312700,Orphanet:792 96 96 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDKL5:boundary_CDS_coverage:after_E1 1.000000 2880 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Diabetes mellitus, permanent neonatal 3 mondo_mondo_0030088_medgen_c5394303_omim_618857 MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857 96 96 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC8:single_exon:E4 0.062500 167 ABCC8:exon_block:E1-E5 0.239583 15263 ABCC8:boundary_CDS_coverage:after_E1 0.947917 4595 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 184 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L Meckel syndrome, type 5 mondo_mondo_0012695_medgen_c1969052_omim_611561_orphanet_564 MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561,Orphanet:564 95 95 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGRIP1L:single_exon:E15 0.136842 453 RPGRIP1L:exon_block:E13-E17 0.410526 12008 RPGRIP1L:boundary_CDS_coverage:after_E1 1.000000 3945 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 122 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC2 Junctional epidermolysis bullosa gravis of Herlitz mondo_mondo_0009182_medgen_c0079683_omim_226700_orphanet_79404 MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404 95 95 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMC2:single_exon:E2 0.094737 189 LAMC2:exon_block:E16-E20 0.294737 3989 LAMC2:boundary_CDS_coverage:after_E1 0.989474 3500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 Junctional epidermolysis bullosa, non-Herlitz type mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 95 95 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMB3:single_exon:E6 0.105263 192 LAMB3:exon_block:E3-E7 0.326316 17049 LAMB3:boundary_CDS_coverage:after_E1 1.000000 3516 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 94 94 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKP2:single_exon:E3 0.255319 698 PKP2:exon_block:E1-E5 0.574468 46012 PKP2:boundary_CDS_coverage:after_E1 0.904255 2288 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Autosomal dominant nonsyndromic hearing loss 3A mondo_mondo_0011103_medgen_c2675750_omim_601544_orphanet_90635 MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635 94 94 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.978723 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.978723 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence VWF von Willebrand disease type 2 mondo_mondo_0013304_medgen_c1264040_omim_613554_orphanet_166081_orphanet_903 MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903 93 93 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VWF:single_exon:E28 0.623656 1379 VWF:exon_block:E24-E28 0.752688 7329 VWF:boundary_CDS_coverage:after_E1 1.000000 8439 large_gene_or_donor_burden_stress_case donor_burden_stress 168 record-level condition-associated architecture; not patient coverage or disease prevalence VWF von Willebrand disease type 1 mondo_mondo_0008668_medgen_c1264039_omim_193400_orphanet_166078_orphanet_903 MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903 93 93 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VWF:single_exon:E28 0.268817 1379 VWF:exon_block:E24-E28 0.397849 7329 VWF:boundary_CDS_coverage:after_E1 0.989247 8439 large_gene_or_donor_burden_stress_case donor_burden_stress 232 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Joubert syndrome 9 mondo_mondo_0012849_medgen_c2676788_omim_612285_orphanet_2318 MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318 92 92 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBXL5:boundary_CDS_coverage:after_E1 1.000000 1989 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence ETFDH Glutaric acidemia type 2C glutaric_acidemia_type_2c . 92 92 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ETFDH:single_exon:E3 0.119565 230 ETFDH:exon_block:E9-E13 0.456522 10637 ETFDH:boundary_CDS_coverage:after_E1 0.978261 1817 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Diabetes mellitus, transient neonatal, 2 mondo_mondo_0012480_medgen_c1835887_omim_610374_orphanet_99886 MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886 92 92 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC8:single_exon:E4 0.065217 167 ABCC8:exon_block:E1-E5 0.217391 15263 ABCC8:boundary_CDS_coverage:after_E1 0.945652 4595 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 182 record-level condition-associated architecture; not patient coverage or disease prevalence VWF Hereditary von Willebrand disease mondo_mondo_0019565_medgen_c5703318_orphanet_903 MONDO:MONDO:0019565,MedGen:C5703318,Orphanet:903 91 91 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VWF:single_exon:E28 0.362637 1379 VWF:exon_block:E25-E29 0.483516 7034 VWF:boundary_CDS_coverage:after_E1 0.956044 8439 large_gene_or_donor_burden_stress_case donor_burden_stress 221 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 91 91 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis USH2A:single_exon:E63 0.087912 1517 USH2A:exon_block:E61-E65 0.186813 77793 USH2A:boundary_CDS_coverage:after_E1 0.989011 15606 large_gene_or_donor_burden_stress_case donor_burden_stress 315 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Brugada syndrome 1 mondo_mondo_0011001_medgen_c4551804_omim_601144_orphanet_130 MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130 91 91 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.153846 3497 SCN5A:exon_block:E24-E28 0.318681 9223 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 130 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L COACH syndrome 3 mondo_mondo_0030862_medgen_c5436841_omim_619113 MONDO:MONDO:0030862,MedGen:C5436841,OMIM:619113 91 91 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGRIP1L:single_exon:E15 0.153846 453 RPGRIP1L:exon_block:E13-E17 0.428571 12008 RPGRIP1L:boundary_CDS_coverage:after_E1 1.000000 3945 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 122 record-level condition-associated architecture; not patient coverage or disease prevalence FANCC Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 90 90 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCC:single_exon:E2 0.144444 243 FANCC:exon_block:E2-E6 0.444444 78291 FANCC:boundary_CDS_coverage:after_E1 1.000000 1674 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Cerebrooculofacioskeletal syndrome 1 mondo_mondo_0008955_medgen_c0220722_omim_214150 MONDO:MONDO:0008955,MedGen:C0220722,OMIM:214150 90 90 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC6:single_exon:E18 0.144444 708 ERCC6:exon_block:E2-E6 0.366667 27095 ERCC6:boundary_CDS_coverage:after_E1 1.000000 4479 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 95 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form mondo_mondo_0010914_medgen_c1833511_omim_600649_orphanet_228305 MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305 90 90 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPT2:single_exon:E4 0.588889 1305 CPT2:exon_block:E1-E5 1.000000 17374 CPT2:boundary_CDS_coverage:after_E1 0.844444 1822 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 CEP290-related disorder cep290_related_disorder MedGen:CN239314 90 90 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E42 0.066667 146 CEP290:exon_block:E36-E40 0.177778 6258 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 248 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Leucine-induced hypoglycemia mondo_mondo_0009415_medgen_c0271714_omim_240800 MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800 90 90 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC8:single_exon:E4 0.066667 167 ABCC8:exon_block:E1-E5 0.222222 15263 ABCC8:boundary_CDS_coverage:after_E1 0.944444 4595 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 182 record-level condition-associated architecture; not patient coverage or disease prevalence RS1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 87 87 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RS1:single_exon:E6 0.379310 2469 RS1:exon_block:E2-E6 0.977011 17978 RS1:boundary_CDS_coverage:after_E1 0.977011 620 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 22 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 87 87 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKP2:single_exon:E3 0.229885 698 PKP2:exon_block:E1-E5 0.574713 46012 PKP2:boundary_CDS_coverage:after_E1 0.931034 2288 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence CHM Choroideremia human_phenotype_ontology_hp_0001139_mondo_mondo_0010557_medgen_c0008525_omim_303100_orphanet_180 Human_Phenotype_Ontology:HP:0001139,MONDO:MONDO:0010557,MedGen:C0008525,OMIM:303100,Orphanet:180 87 87 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHM:single_exon:E5 0.172414 388 CHM:exon_block:E4-E8 0.528736 22739 CHM:boundary_CDS_coverage:after_E1 0.942529 1910 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence CAPN3 Autosomal recessive limb-girdle muscular dystrophy mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 87 87 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CAPN3:single_exon:E10 0.160920 161 CAPN3:exon_block:E7-E11 0.356322 9172 CAPN3:boundary_CDS_coverage:after_E1 0.919540 2154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 107 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Osteogenesis imperfecta, perinatal lethal mondo_mondo_0008147_medgen_c0268358_omim_166210_orphanet_216804 MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210,Orphanet:216804 86 86 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E28 0.058140 54 COL1A2:exon_block:E24-E28 0.197674 1880 COL1A2:boundary_CDS_coverage:after_E1 0.976744 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 223 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 86 86 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E38 0.069767 148 ABCA4:exon_block:E12-E16 0.162791 8207 ABCA4:boundary_CDS_coverage:after_E1 0.976744 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 229 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 85 85 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALMS1:single_exon:E8 0.400000 6108 ALMS1:exon_block:E7-E11 0.564706 87819 ALMS1:boundary_CDS_coverage:after_E1 0.964706 12180 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 99 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Meckel syndrome, type 3 mondo_mondo_0011821_medgen_c1846357_omim_607361_orphanet_564 MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564 84 84 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E13 0.107143 124 TMEM67:exon_block:E5-E9 0.238095 15577 TMEM67:boundary_CDS_coverage:after_E1 0.964286 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 130 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 84 84 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RP1:single_exon:E4 0.857143 6165 RP1:exon_block:E2-E4 1.000000 9880 RP1:boundary_CDS_coverage:after_E1 1.000000 6468 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 11 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 84 84 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.142857 256 MYH7:exon_block:E19-E23 0.428571 2175 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 165 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 DE SANCTIS-CACCHIONE SYNDROME mondo_mondo_0010217_medgen_c0265201_omim_278800 MONDO:MONDO:0010217,MedGen:C0265201,OMIM:278800 84 84 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC6:single_exon:E18 0.142857 708 ERCC6:exon_block:E2-E6 0.380952 27095 ERCC6:boundary_CDS_coverage:after_E1 1.000000 4479 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 95 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Pigmented paravenous retinochoroidal atrophy mondo_mondo_0008246_medgen_c1868310_omim_172870_orphanet_251295 MONDO:MONDO:0008246,MedGen:C1868310,OMIM:172870,Orphanet:251295 84 84 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CRB1:single_exon:E9 0.261905 907 CRB1:exon_block:E5-E9 0.714286 78782 CRB1:boundary_CDS_coverage:after_E1 0.988095 4148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 Junctional epidermolysis bullosa gravis of Herlitz mondo_mondo_0009182_medgen_c0079683_omim_226700_orphanet_79404 MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404 83 83 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMA3:single_exon:E40 0.060241 110 LAMA3:exon_block:E38-E40 0.180723 10615 LAMA3:boundary_CDS_coverage:after_E1 1.000000 9705 large_gene_or_donor_burden_stress_case donor_burden_stress 218 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Joubert syndrome 6 mondo_mondo_0012539_medgen_c1853153_omim_610688_orphanet_475 MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475 82 82 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E13 0.109756 124 TMEM67:exon_block:E1-E5 0.231707 10582 TMEM67:boundary_CDS_coverage:after_E1 0.963415 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 131 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Meckel syndrome, type 6 mondo_mondo_0012848_medgen_c2676790_omim_612284_orphanet_564 MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564 82 82 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBXL5:boundary_CDS_coverage:after_E1 1.000000 1989 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A Retinitis pigmentosa 93 mondo_mondo_0030797_medgen_c5676970_omim_619845 MONDO:MONDO:0030797,MedGen:C5676970,OMIM:619845 82 82 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CC2D2A:single_exon:E36 0.097561 178 CC2D2A:exon_block:E20-E24 0.195122 8451 CC2D2A:boundary_CDS_coverage:after_E1 1.000000 4860 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 171 record-level condition-associated architecture; not patient coverage or disease prevalence TG Iodotyrosyl coupling defect mondo_mondo_0010135_medgen_c0342194_omim_274700_orphanet_95716 MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716 81 81 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TG:single_exon:E9 0.111111 1101 TG:exon_block:E7-E11 0.283951 11461 TG:boundary_CDS_coverage:after_E1 0.987654 8237 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 216 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 81 81 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN2A:single_exon:E27 0.209877 3676 SCN2A:exon_block:E23-E27 0.432099 14708 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 124 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Optic atrophy human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 81 81 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OPA1:single_exon:E16 0.123457 131 OPA1:exon_block:E12-E16 0.308642 1341 OPA1:boundary_CDS_coverage:after_E1 0.975309 3013 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 135 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Neuromuscular disease caused by qualitative or quantitative defects of dystrophin mondo_mondo_0016147_medgen_c5679787_orphanet_207085 MONDO:MONDO:0016147,MedGen:C5679787,Orphanet:207085 81 81 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E9 0.037037 129 DMD:exon_block:E20-E24 0.148148 26933 DMD:boundary_CDS_coverage:after_E1 0.987654 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 317 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 Hereditary cancer-predisposing syndrome mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 81 81 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CTNNA1:single_exon:E3 0.098765 196 CTNNA1:exon_block:E3-E7 0.407407 44542 CTNNA1:boundary_CDS_coverage:after_E1 1.000000 2718 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 78 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A COACH syndrome 2 mondo_mondo_0030859_medgen_c5436837_omim_619111 MONDO:MONDO:0030859,MedGen:C5436837,OMIM:619111 81 81 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CC2D2A:single_exon:E36 0.098765 178 CC2D2A:exon_block:E20-E24 0.197531 8451 CC2D2A:boundary_CDS_coverage:after_E1 1.000000 4860 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 170 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis mondo_mondo_0011835_medgen_c1843851_omim_607459_orphanet_70595 MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595 80 80 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLG:single_exon:E22 0.112500 161 POLG:exon_block:E18-E22 0.362500 3637 POLG:boundary_CDS_coverage:after_E1 1.000000 3717 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 104 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 80 80 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYBPC3:single_exon:E17 0.162500 167 MYBPC3:exon_block:E14-E18 0.250000 1272 MYBPC3:boundary_CDS_coverage:after_E1 1.000000 3797 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 157 record-level condition-associated architecture; not patient coverage or disease prevalence MMUT Methylmalonic acidemia human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 80 80 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MMUT:single_exon:E3 0.225000 368 MMUT:exon_block:E2-E6 0.650000 8040 MMUT:boundary_CDS_coverage:after_E1 1.000000 2250 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Palmoplantar keratoderma-deafness syndrome mondo_mondo_0007852_medgen_c1835672_omim_148350_orphanet_2202 MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202 80 80 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.975000 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.975000 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Autosomal dominant keratitis-ichthyosis-hearing loss syndrome mondo_mondo_0007850_medgen_c0265336_omim_148210_orphanet_477 MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477 80 80 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.975000 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.975000 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Encephalopathy, acute, infection-induced, susceptibility to, 4 mondo_mondo_0013633_medgen_c3280160_omim_614212_orphanet_263524 MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524 80 80 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPT2:single_exon:E4 0.650000 1305 CPT2:exon_block:E1-E5 1.000000 17374 CPT2:boundary_CDS_coverage:after_E1 0.900000 1822 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 mondo_mondo_0024528_medgen_c1834846_omim_157640 MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640 79 79 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLG:single_exon:E18 0.113924 247 POLG:exon_block:E18-E22 0.354430 3637 POLG:boundary_CDS_coverage:after_E1 1.000000 3717 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 103 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 79 79 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E7 0.075949 143 MYO7A:exon_block:E27-E31 0.253165 7691 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 205 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A USH2A-related disorder ush2a_related_disorder MedGen:CN239332 78 78 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis USH2A:single_exon:E63 0.076923 1517 USH2A:exon_block:E60-E64 0.179487 70566 USH2A:boundary_CDS_coverage:after_E1 1.000000 15606 large_gene_or_donor_burden_stress_case donor_burden_stress 309 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 Retinitis pigmentosa 1 mondo_mondo_0008377_medgen_c0220701_omim_180100_orphanet_791 MONDO:MONDO:0008377,MedGen:C0220701,OMIM:180100,Orphanet:791 78 78 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RP1:single_exon:E4 0.858974 6165 RP1:exon_block:E2-E4 0.974359 9880 RP1:boundary_CDS_coverage:after_E1 1.000000 6468 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 11 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Dilated cardiomyopathy 1A mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 78 78 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LMNA:single_exon:E1 0.166667 564 LMNA:exon_block:E1-E5 0.564103 20602 LMNA:boundary_CDS_coverage:after_E1 0.833333 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence ELP1 Medulloblastoma human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 78 78 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ELP1:single_exon:E8 0.076923 91 ELP1:exon_block:E4-E8 0.243590 8643 ELP1:boundary_CDS_coverage:after_E1 1.000000 3996 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 168 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Vitelliform macular dystrophy 2 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 78 78 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BEST1:single_exon:E2 0.230769 188 BEST1:exon_block:E2-E6 0.653846 5694 BEST1:boundary_CDS_coverage:after_E1 1.000000 1755 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 45 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK3 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 78 78 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALPK3:single_exon:E6 0.333333 2164 ALPK3:exon_block:E3-E7 0.769231 31907 ALPK3:boundary_CDS_coverage:after_E1 0.910256 4972 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence GATA2 Monocytopenia with susceptibility to infections mondo_mondo_0013607_medgen_c3280030_omim_614172_orphanet_228423 MONDO:MONDO:0013607,MedGen:C3280030,OMIM:614172,Orphanet:228423 77 77 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GATA2:single_exon:E3 0.363636 642 GATA2:exon_block:E2-E6 0.987013 7650 GATA2:boundary_CDS_coverage:after_E1 0.987013 1440 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 21 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Achromatopsia human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 77 77 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CNGB3:single_exon:E6 0.129870 209 CNGB3:exon_block:E2-E6 0.324675 72812 CNGB3:boundary_CDS_coverage:after_E1 0.935065 2298 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 82 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 77 77 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDKL5:boundary_CDS_coverage:after_E1 1.000000 2880 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Mutilating keratoderma mondo_mondo_0007422_medgen_c0265964_omim_124500_orphanet_494 MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494 76 76 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.973684 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.973684 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Knuckle pads, deafness AND leukonychia syndrome mondo_mondo_0007866_medgen_c0266004_omim_149200_orphanet_2698 MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698 75 75 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.973333 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.973333 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Ichthyosis, hystrix-like, with hearing loss mondo_mondo_0011245_medgen_c1865234_omim_602540_orphanet_477 MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477 75 75 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.973333 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.973333 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNA1 Hereditary diffuse gastric adenocarcinoma mondo_mondo_0007648_medgen_c1708349_omim_137215_orphanet_26106 MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106 75 75 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CTNNA1:single_exon:E4 0.120000 167 CTNNA1:exon_block:E10-E14 0.413333 25008 CTNNA1:boundary_CDS_coverage:after_E1 1.000000 2718 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 75 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 75 75 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ANKRD11:single_exon:E9 0.853333 6578 ANKRD11:exon_block:E9-E13 0.960000 18020 ANKRD11:boundary_CDS_coverage:after_E1 1.000000 7989 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 ABCA4-related disorder abca4_related_disorder MedGen:CN239167 75 75 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E22 0.053333 138 ABCA4:exon_block:E28-E32 0.173333 7735 ABCA4:boundary_CDS_coverage:after_E1 0.986667 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 222 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF31 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 74 74 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PRPF31:single_exon:E11 0.135135 73 PRPF31:exon_block:E4-E8 0.459459 2797 PRPF31:boundary_CDS_coverage:after_E1 1.000000 1497 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 61 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Mitochondrial DNA depletion syndrome 4b mondo_mondo_0013350_medgen_c3150914_omim_613662_orphanet_298 MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298 74 74 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLG:single_exon:E10 0.081081 237 POLG:exon_block:E18-E22 0.364865 3637 POLG:boundary_CDS_coverage:after_E1 1.000000 3717 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 103 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 74 74 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKP2:single_exon:E3 0.189189 698 PKP2:exon_block:E2-E6 0.527027 38005 PKP2:boundary_CDS_coverage:after_E1 0.918919 2288 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Osteogenesis imperfecta type III mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 74 74 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E19 0.094595 99 COL1A2:exon_block:E19-E23 0.243243 1432 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 215 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Arterial calcification, generalized, of infancy, 2 mondo_mondo_0013768_medgen_c3276161_omim_614473_orphanet_51608 MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608 74 74 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC6:single_exon:E24 0.108108 200 ABCC6:exon_block:E24-E28 0.337838 8320 ABCC6:boundary_CDS_coverage:after_E1 1.000000 4473 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 141 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 mondo_mondo_0009783_medgen_c4225153_omim_258450_orphanet_254886 MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886 73 73 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLG:single_exon:E2 0.082192 818 POLG:exon_block:E18-E22 0.328767 3637 POLG:boundary_CDS_coverage:after_E1 1.000000 3717 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 103 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Autosomal dominant optic atrophy classic form mondo_mondo_0008134_medgen_c0338508_omim_165500_orphanet_98673 MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500,Orphanet:98673 73 73 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OPA1:single_exon:E11 0.109589 114 OPA1:exon_block:E9-E13 0.273973 7632 OPA1:boundary_CDS_coverage:after_E1 0.986301 3013 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 134 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 Pseudoxanthoma elasticum, forme fruste mondo_mondo_0008333_medgen_c1867450_omim_177850_orphanet_758 MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758 73 73 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC6:single_exon:E24 0.109589 200 ABCC6:exon_block:E24-E28 0.356164 8320 ABCC6:boundary_CDS_coverage:after_E1 1.000000 4473 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 138 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 72 72 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.152778 6610 SCN1A:exon_block:E26-E29 0.236111 12363 SCN1A:boundary_CDS_coverage:after_E1 0.958333 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 128 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Muscle eye brain disease mondo_mondo_0018939_medgen_c0457133_orphanet_588_orphanet_899 MONDO:MONDO:0018939,MedGen:C0457133,Orphanet:588,Orphanet:899 72 72 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POMGNT1:single_exon:E21 0.152778 110 POMGNT1:exon_block:E17-E21 0.375000 2766 POMGNT1:boundary_CDS_coverage:after_E1 1.000000 1980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 98 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Dyslipidemia medgen_c0242339 MedGen:C0242339 72 72 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LDLR:single_exon:E4 0.236111 381 LDLR:exon_block:E3-E7 0.541667 8108 LDLR:boundary_CDS_coverage:after_E1 1.000000 2513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 78 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome mondo_mondo_0012726_medgen_c2673195_omim_611773_orphanet_73229 MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229 72 72 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A1:single_exon:E24 0.097222 71 COL4A1:exon_block:E22-E26 0.291667 8734 COL4A1:boundary_CDS_coverage:after_E1 0.986111 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 204 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 ABCA4-related retinopathy mondo_mondo_0800406_medgen_cn322612 MONDO:MONDO:0800406,MedGen:CN322612 72 72 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E35 0.069444 170 ABCA4:exon_block:E19-E23 0.152778 5885 ABCA4:boundary_CDS_coverage:after_E1 0.944444 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 224 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Dilated cardiomyopathy 1S mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 71 71 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.140845 256 MYH7:exon_block:E19-E23 0.394366 2175 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 165 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 COL1A1-related disorder col1a1_related_disorder . 71 71 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E43 0.070423 108 COL1A1:exon_block:E41-E45 0.211268 1135 COL1A1:boundary_CDS_coverage:after_E1 0.971831 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 222 record-level condition-associated architecture; not patient coverage or disease prevalence CHM Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 71 71 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHM:single_exon:E5 0.197183 388 CHM:exon_block:E2-E6 0.492958 68697 CHM:boundary_CDS_coverage:after_E1 0.957746 1910 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence HPS3 Hermansky-Pudlak syndrome mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 70 70 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HPS3:single_exon:E2 0.157143 495 HPS3:exon_block:E1-E5 0.400000 15909 HPS3:boundary_CDS_coverage:after_E1 0.957143 2795 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 70 70 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E21 0.057143 165 CEP290:exon_block:E17-E21 0.171429 6877 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 240 record-level condition-associated architecture; not patient coverage or disease prevalence RASA1 Capillary malformation-arteriovenous malformation 1 mondo_mondo_0020783_medgen_c4747394_omim_608354_orphanet_137667 MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667 69 69 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RASA1:single_exon:E17 0.086957 160 RASA1:exon_block:E16-E20 0.347826 4203 RASA1:boundary_CDS_coverage:after_E1 0.927536 2602 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 117 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Benign familial hematuria mondo_mondo_0957317_medgen_c0241908_omim_ps141200 MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200 69 69 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A4:single_exon:E25 0.115942 184 COL4A4:exon_block:E21-E25 0.246377 12064 COL4A4:boundary_CDS_coverage:after_E1 1.000000 5070 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 212 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Familial hypocalciuric hypercalcemia 1 mondo_mondo_0007791_medgen_c0342637_omim_145980_orphanet_405_orphanet_93372 MONDO:MONDO:0007791,MedGen:C0342637,OMIM:145980,Orphanet:405,Orphanet:93372 69 69 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CASR:single_exon:E7 0.347826 7943 CASR:exon_block:E3-E7 0.869565 34549 CASR:boundary_CDS_coverage:after_E1 1.000000 3234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 26 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Cardiac arrhythmia efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 68 68 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.176471 3497 SCN5A:exon_block:E25-E28 0.279412 8517 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 127 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 68 68 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.102941 6610 SCN1A:exon_block:E25-E29 0.264706 13964 SCN1A:boundary_CDS_coverage:after_E1 1.000000 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 128 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Developmental and epileptic encephalopathy 6B mondo_mondo_0030268_medgen_c5543353_omim_619317 MONDO:MONDO:0030268,MedGen:C5543353,OMIM:619317 68 68 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.205882 6610 SCN1A:exon_block:E25-E29 0.264706 13964 SCN1A:boundary_CDS_coverage:after_E1 1.000000 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 123 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 Left ventricular noncompaction 10 mondo_mondo_0014163_medgen_c3715165_omim_615396_orphanet_154_orphanet_54260 MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260 68 68 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYBPC3:single_exon:E17 0.117647 167 MYBPC3:exon_block:E13-E17 0.235294 1047 MYBPC3:boundary_CDS_coverage:after_E1 1.000000 3797 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 155 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 67 67 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD1:single_exon:E15 0.238806 3620 PKD1:exon_block:E15-E19 0.373134 5781 PKD1:boundary_CDS_coverage:after_E1 0.985075 12694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 198 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 67 67 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E7 0.059701 143 MYO7A:exon_block:E3-E7 0.194030 14296 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 223 record-level condition-associated architecture; not patient coverage or disease prevalence FGFR1 Pfeiffer syndrome mondo_mondo_0007043_medgen_c0220658_omim_101600_orphanet_710 MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710 67 67 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FGFR1:single_exon:E3 0.164179 267 FGFR1:exon_block:E3-E7 0.402985 5440 FGFR1:boundary_CDS_coverage:after_E1 1.000000 2466 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 80 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC2 Xeroderma pigmentosum, group D mondo_mondo_0010212_medgen_c0268138_omim_278730 MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730 66 66 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC2:single_exon:E22 0.166667 144 ERCC2:exon_block:E18-E22 0.454545 1126 ERCC2:boundary_CDS_coverage:after_E1 1.000000 2275 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 99 record-level condition-associated architecture; not patient coverage or disease prevalence HSD17B4 Perrault syndrome 1 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 65 65 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HSD17B4:single_exon:E13 0.107692 237 HSD17B4:exon_block:E15-E19 0.338462 19206 HSD17B4:boundary_CDS_coverage:after_E1 0.969231 2150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 107 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Progeroid and marfanoid aspect-lipodystrophy syndrome mondo_mondo_0014831_medgen_c4310796_omim_616914_orphanet_300382 MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:300382 65 65 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E65 0.076923 175 FBN1:exon_block:E3-E7 0.138462 75482 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 288 record-level condition-associated architecture; not patient coverage or disease prevalence ALPK3 Cardiomyopathy, familial hypertrophic 27 mondo_mondo_0054838_medgen_c4748014_omim_618052 MONDO:MONDO:0054838,MedGen:C4748014,OMIM:618052 65 65 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALPK3:single_exon:E6 0.415385 2164 ALPK3:exon_block:E3-E7 0.738462 31907 ALPK3:boundary_CDS_coverage:after_E1 0.953846 4972 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 58 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Migraine, familial hemiplegic, 3 mondo_mondo_0012320_medgen_c1864987_omim_609634_orphanet_569 MONDO:MONDO:0012320,MedGen:C1864987,OMIM:609634,Orphanet:569 64 64 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.140625 6610 SCN1A:exon_block:E25-E29 0.296875 13964 SCN1A:boundary_CDS_coverage:after_E1 1.000000 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 125 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 PKHD1-related disorder pkhd1_related_disorder . 64 64 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKHD1:single_exon:E58 0.093750 879 PKHD1:exon_block:E57-E61 0.218750 94402 PKHD1:boundary_CDS_coverage:after_E1 1.000000 12222 large_gene_or_donor_burden_stress_case donor_burden_stress 284 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 64 64 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.968750 2134 GJB2:exon_block:E1-E2 0.984375 5469 GJB2:boundary_CDS_coverage:after_E1 0.968750 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence COL7A1 COL7A1-related disorder col7a1_related_disorder . 64 64 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL7A1:single_exon:E74 0.125000 201 COL7A1:exon_block:E71-E75 0.187500 1090 COL7A1:boundary_CDS_coverage:after_E1 1.000000 8832 large_gene_or_donor_burden_stress_case donor_burden_stress 372 record-level condition-associated architecture; not patient coverage or disease prevalence CCNH Capillary malformation-arteriovenous malformation 1 mondo_mondo_0020783_medgen_c4747394_omim_608354_orphanet_137667 MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667 64 64 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CCNH:boundary_CDS_coverage:after_E1 1.000000 852 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 King Denborough syndrome mondo_mondo_0020485_medgen_c1840365_omim_619542 MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542 63 63 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E34 0.047619 613 RYR1:exon_block:E45-E49 0.142857 3063 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 403 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Carnitine palmitoyl transferase II deficiency, neonatal form mondo_mondo_0012136_medgen_c1833518_omim_608836_orphanet_228308 MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308 63 63 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPT2:single_exon:E4 0.603175 1305 CPT2:exon_block:E1-E5 1.000000 17374 CPT2:boundary_CDS_coverage:after_E1 0.841270 1822 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence TTR Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 62 62 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TTR:single_exon:E3 0.516129 136 TTR:exon_block:E2-E4 1.000000 5926 TTR:boundary_CDS_coverage:after_E1 1.000000 372 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 11 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 62 62 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC26A4:single_exon:E10 0.129032 114 SLC26A4:exon_block:E10-E14 0.387097 7988 SLC26A4:boundary_CDS_coverage:after_E1 1.000000 2340 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Infantile liver failure syndrome 2 mondo_mondo_0014659_medgen_c3809651_omim_616483 MONDO:MONDO:0014659,MedGen:C3809651,OMIM:616483 62 62 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NBAS:single_exon:E36 0.080645 168 NBAS:exon_block:E24-E28 0.193548 23486 NBAS:boundary_CDS_coverage:after_E1 0.951613 6996 large_gene_or_donor_burden_stress_case donor_burden_stress 235 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Noonan syndrome 2 mondo_mondo_0011531_medgen_c1854469_omim_605275_orphanet_648 MONDO:MONDO:0011531,MedGen:C1854469,OMIM:605275,Orphanet:648 62 62 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LZTR1:single_exon:E1 0.096774 275 LZTR1:exon_block:E11-E15 0.322581 1934 LZTR1:boundary_CDS_coverage:after_E1 0.903226 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 95 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Spinocerebellar ataxia type 6 mondo_mondo_0008457_medgen_c0752124_omim_183086_orphanet_98758 MONDO:MONDO:0008457,MedGen:C0752124,OMIM:183086,Orphanet:98758 62 62 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CACNA1A:single_exon:E25 0.112903 100 CACNA1A:exon_block:E32-E36 0.241935 5649 CACNA1A:boundary_CDS_coverage:after_E1 1.000000 7225 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 177 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Nephronophthisis 11 mondo_mondo_0013302_medgen_c3150796_omim_613550_orphanet_84081 MONDO:MONDO:0013302,MedGen:C3150796,OMIM:613550,Orphanet:84081 61 61 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E13 0.147541 124 TMEM67:exon_block:E4-E8 0.278689 16906 TMEM67:boundary_CDS_coverage:after_E1 0.967213 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 127 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Acromicric dysplasia mondo_mondo_0007055_medgen_c0265287_omim_102370_orphanet_969 MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:969 61 61 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E42 0.098361 159 FBN1:exon_block:E38-E42 0.196721 5021 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 286 record-level condition-associated architecture; not patient coverage or disease prevalence CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form mondo_mondo_0009704_medgen_c1833508_omim_255110_orphanet_157_orphanet_228302 MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302 61 61 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPT2:single_exon:E4 0.590164 1305 CPT2:exon_block:E1-E5 1.000000 17374 CPT2:boundary_CDS_coverage:after_E1 0.836066 1822 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 17 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Osteogenesis imperfecta mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 61 61 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E17 0.098361 99 COL1A2:exon_block:E17-E21 0.278689 1206 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 197 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 61 61 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ARID1B:single_exon:E20 0.295082 4613 ARID1B:exon_block:E16-E20 0.540984 14615 ARID1B:boundary_CDS_coverage:after_E1 0.868852 5325 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 83 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Febrile seizures, familial, 4 mondo_mondo_0011443_medgen_c1858493_omim_604352 MONDO:MONDO:0011443,MedGen:C1858493,OMIM:604352 61 61 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ADGRV1:single_exon:E22 0.049180 177 ADGRV1:exon_block:E79-E83 0.147541 15221 ADGRV1:boundary_CDS_coverage:after_E1 1.000000 18896 large_gene_or_donor_burden_stress_case donor_burden_stress 350 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Autosomal dominant nonsyndromic hearing loss 6 mondo_mondo_0010963_medgen_c1833021_omim_600965_orphanet_90635 MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635 60 60 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis WFS1:single_exon:E8 0.833333 2609 WFS1:exon_block:E4-E8 0.950000 14279 WFS1:boundary_CDS_coverage:after_E1 1.000000 2670 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 30 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 Retinitis pigmentosa 93 mondo_mondo_0030797_medgen_c5676970_omim_619845 MONDO:MONDO:0030797,MedGen:C5676970,OMIM:619845 60 60 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBXL5:boundary_CDS_coverage:after_E1 1.000000 1989 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 COL2A1-related disorder col2a1_related_disorder . 60 60 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E50 0.100000 108 COL2A1:exon_block:E48-E52 0.233333 2245 COL2A1:boundary_CDS_coverage:after_E1 1.000000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 237 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Achondrogenesis type II mondo_mondo_0008702_medgen_c0220685_omim_200610_orphanet_932_orphanet_93296 MONDO:MONDO:0008702,MedGen:C0220685,OMIM:200610,Orphanet:932,Orphanet:93296 60 60 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E43 0.100000 108 COL2A1:exon_block:E42-E45 0.333333 1159 COL2A1:boundary_CDS_coverage:after_E1 0.983333 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 208 record-level condition-associated architecture; not patient coverage or disease prevalence USH2A Usher syndrome type 2 mondo_mondo_0016484_medgen_c0339534_orphanet_231178 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 59 59 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis USH2A:single_exon:E63 0.084746 1517 USH2A:exon_block:E10-E13 0.186441 45786 USH2A:boundary_CDS_coverage:after_E1 1.000000 15606 large_gene_or_donor_burden_stress_case donor_burden_stress 287 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 COACH syndrome 1 mondo_mondo_0800103_medgen_c5435651_omim_216360_orphanet_1454 MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454 59 59 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E13 0.152542 124 TMEM67:exon_block:E4-E8 0.254237 16906 TMEM67:boundary_CDS_coverage:after_E1 0.966102 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 127 record-level condition-associated architecture; not patient coverage or disease prevalence TG Autoimmune thyroid disease, susceptibility to, 3 mondo_mondo_0011982_medgen_c1842444_omim_608175 MONDO:MONDO:0011982,MedGen:C1842444,OMIM:608175 59 59 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TG:single_exon:E9 0.135593 1101 TG:exon_block:E7-E11 0.355932 11461 TG:boundary_CDS_coverage:after_E1 1.000000 8237 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 196 record-level condition-associated architecture; not patient coverage or disease prevalence PRPF31 Retinitis pigmentosa 11 mondo_mondo_0010828_medgen_c1838601_omim_600138_orphanet_791 MONDO:MONDO:0010828,MedGen:C1838601,OMIM:600138,Orphanet:791 59 59 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PRPF31:single_exon:E2 0.101695 185 PRPF31:exon_block:E7-E11 0.457627 4629 PRPF31:boundary_CDS_coverage:after_E1 0.966102 1497 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 61 record-level condition-associated architecture; not patient coverage or disease prevalence ITGA2B Glanzmann thrombasthenia 1 mondo_mondo_0031332_medgen_cn300358_omim_273800 MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800 59 59 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ITGA2B:single_exon:E4 0.101695 166 ITGA2B:exon_block:E1-E4 0.220339 4099 ITGA2B:boundary_CDS_coverage:after_E1 0.932203 2929 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 136 record-level condition-associated architecture; not patient coverage or disease prevalence GNAS Pseudohypoparathyroidism type I A mondo_mondo_0007078_medgen_c3494506_omim_103580_orphanet_79443 MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443 59 59 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GNAS:single_exon:E6 0.152542 98 GNAS:exon_block:E5-E9 0.440678 5908 GNAS:boundary_CDS_coverage:after_E1 0.847458 1043 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence FBXL5 COACH syndrome 2 mondo_mondo_0030859_medgen_c5436837_omim_619111 MONDO:MONDO:0030859,MedGen:C5436837,OMIM:619111 59 59 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBXL5:boundary_CDS_coverage:after_E1 1.000000 1989 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Migraine, familial hemiplegic, 1 mondo_mondo_0020756_medgen_c1832884_omim_141500_orphanet_569 MONDO:MONDO:0020756,MedGen:C1832884,OMIM:141500,Orphanet:569 59 59 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CACNA1A:single_exon:E25 0.135593 100 CACNA1A:exon_block:E24-E28 0.254237 18607 CACNA1A:boundary_CDS_coverage:after_E1 0.983051 7225 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 179 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 Amelogenesis imperfecta type 1A mondo_mondo_0007094_medgen_c4011403_omim_104530_orphanet_88661 MONDO:MONDO:0007094,MedGen:C4011403,OMIM:104530,Orphanet:88661 58 58 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMB3:single_exon:E12 0.086207 197 LAMB3:exon_block:E10-E14 0.310345 4278 LAMB3:boundary_CDS_coverage:after_E1 1.000000 3516 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 105 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 58 58 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KMT2A:single_exon:E27 0.206897 4249 KMT2A:exon_block:E1-E5 0.396552 41710 KMT2A:boundary_CDS_coverage:after_E1 0.913793 11484 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 144 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Jervell and Lange-Nielsen syndrome 1 mondo_mondo_0024540_medgen_c4551509_omim_220400_orphanet_768_orphanet_90647 MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647 58 58 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E3 0.172414 127 KCNQ1:exon_block:E3-E7 0.500000 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.948276 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 71 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 58 58 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.982759 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.982759 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Stiff skin syndrome mondo_mondo_0008492_medgen_c1861456_omim_184900_orphanet_2833 MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:2833 58 58 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E38 0.103448 165 FBN1:exon_block:E37-E41 0.189655 4636 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 280 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Spondyloepiphyseal dysplasia congenita mondo_mondo_0008471_medgen_c2745959_omim_183900_orphanet_94068 MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900,Orphanet:94068 58 58 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E50 0.103448 108 COL2A1:exon_block:E47-E51 0.241379 1839 COL2A1:boundary_CDS_coverage:after_E1 0.965517 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 212 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Retinitis pigmentosa 74 mondo_mondo_0014692_medgen_c4225281_omim_616562_orphanet_791 MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791 58 58 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BBS2:single_exon:E2 0.241379 228 BBS2:exon_block:E2-E6 0.482759 8561 BBS2:boundary_CDS_coverage:after_E1 0.965517 2046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 77 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Wolfram-like syndrome mondo_mondo_0013673_medgen_c3280358_omim_614296_orphanet_411590 MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590 57 57 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis WFS1:single_exon:E8 0.824561 2609 WFS1:exon_block:E4-E8 0.947368 14279 WFS1:boundary_CDS_coverage:after_E1 1.000000 2670 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 30 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Ectopia lentis 1, isolated, autosomal dominant mondo_mondo_0007514_medgen_c3541518_omim_129600_orphanet_1885 MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orphanet:1885 57 57 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E5 0.070175 96 FBN1:exon_block:E12-E16 0.175439 10503 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 284 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Dilated cardiomyopathy 3B mondo_mondo_0010542_medgen_c3668940_omim_302045_orphanet_154 MONDO:MONDO:0010542,MedGen:C3668940,OMIM:302045,Orphanet:154 57 57 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E70 0.070175 137 DMD:exon_block:E6-E10 0.140351 171677 DMD:boundary_CDS_coverage:after_E1 0.947368 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 294 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 56 56 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MECP2:single_exon:E3 0.821429 9878 MECP2:exon_block:E1-E3 0.928571 76145 MECP2:boundary_CDS_coverage:after_E1 0.892857 1432 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Familial hyperinsulinism mondo_mondo_0017182_medgen_c3888018_orphanet_276525 MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 56 56 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC8:single_exon:E5 0.107143 243 ABCC8:exon_block:E1-E5 0.267857 15263 ABCC8:boundary_CDS_coverage:after_E1 0.928571 4595 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 168 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 RHYNS syndrome mondo_mondo_0011202_medgen_c1865794_omim_602152_orphanet_140976 MONDO:MONDO:0011202,MedGen:C1865794,OMIM:602152,Orphanet:140976 55 55 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E13 0.181818 124 TMEM67:exon_block:E9-E13 0.272727 5473 TMEM67:boundary_CDS_coverage:after_E1 0.963636 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 129 record-level condition-associated architecture; not patient coverage or disease prevalence RTEL1 Dyskeratosis congenita mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 55 55 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RTEL1:single_exon:E29 0.109091 199 RTEL1:exon_block:E28-E32 0.381818 3233 RTEL1:boundary_CDS_coverage:after_E1 1.000000 3900 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 144 record-level condition-associated architecture; not patient coverage or disease prevalence GLA Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 55 55 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLA:single_exon:E2 0.181818 175 GLA:exon_block:E2-E6 0.709091 5616 GLA:boundary_CDS_coverage:after_E1 0.854545 1093 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 27 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Geleophysic dysplasia 2 mondo_mondo_0013612_medgen_c3280054_omim_614185_orphanet_2623 MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185,Orphanet:2623 55 55 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E42 0.072727 159 FBN1:exon_block:E41-E44 0.181818 7385 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 278 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 MASS syndrome mondo_mondo_0011431_medgen_c1858556_omim_604308 MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308 54 54 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E12 0.074074 141 FBN1:exon_block:E12-E16 0.148148 10503 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 280 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Arrhythmogenic right ventricular cardiomyopathy mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 54 54 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E23 0.388889 2295 DSP:exon_block:E20-E24 0.611111 9756 DSP:boundary_CDS_coverage:after_E1 0.981481 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 98 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Cataract 41 mondo_mondo_0007287_medgen_c3805412_omim_116400_orphanet_91492_orphanet_98991_orphanet_98992_orphanet_98995 MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995 53 53 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis WFS1:single_exon:E8 0.811321 2609 WFS1:exon_block:E4-E8 0.943396 14279 WFS1:boundary_CDS_coverage:after_E1 1.000000 2670 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 30 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Long QT syndrome 3 mondo_mondo_0011377_medgen_c1859062_omim_603830_orphanet_101016_orphanet_768 MONDO:MONDO:0011377,MedGen:C1859062,OMIM:603830,Orphanet:101016,Orphanet:768 53 53 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.320755 3497 SCN5A:exon_block:E25-E28 0.433962 8517 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 120 record-level condition-associated architecture; not patient coverage or disease prevalence PTCH1 Basal cell nevus syndrome 1 mondo_mondo_0958174_medgen_cn376810_omim_109400 MONDO:MONDO:0958174,MedGen:CN376810,OMIM:109400 53 53 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PTCH1:single_exon:E14 0.132075 403 PTCH1:exon_block:E14-E18 0.358491 11141 PTCH1:boundary_CDS_coverage:after_E1 0.962264 4140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 107 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 MYH7-related skeletal myopathy mondo_mondo_0008050_medgen_c4552004_omim_160500_orphanet_59135 MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:59135 53 53 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E34 0.113208 309 MYH7:exon_block:E31-E35 0.264151 2058 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 164 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Weill-Marchesani syndrome 2, dominant mondo_mondo_0012013_medgen_c1869115_omim_608328_orphanet_2084 MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:2084 53 53 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E5 0.056604 96 FBN1:exon_block:E38-E42 0.169811 5021 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 282 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Stickler syndrome type 2 mondo_mondo_0011493_medgen_c1858084_omim_604841_orphanet_828_orphanet_90654 MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841,Orphanet:828,Orphanet:90654 53 53 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL11A1:single_exon:E61 0.094340 36 COL11A1:exon_block:E58-E61 0.188679 1782 COL11A1:boundary_CDS_coverage:after_E1 1.000000 5312 large_gene_or_donor_burden_stress_case donor_burden_stress 257 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 52 52 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E15 0.057692 123 FBN1:exon_block:E19-E23 0.173077 3188 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 267 record-level condition-associated architecture; not patient coverage or disease prevalence WFS1 Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 51 51 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis WFS1:single_exon:E8 0.784314 2609 WFS1:exon_block:E4-E8 0.941176 14279 WFS1:boundary_CDS_coverage:after_E1 1.000000 2670 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 30 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Bardet-Biedl syndrome 14 mondo_mondo_0014442_medgen_c2673874_omim_615991_orphanet_110 MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110 51 51 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E13 0.176471 124 TMEM67:exon_block:E9-E13 0.274510 5473 TMEM67:boundary_CDS_coverage:after_E1 0.960784 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 126 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 51 51 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.117647 6610 SCN1A:exon_block:E14-E18 0.254902 6274 SCN1A:boundary_CDS_coverage:after_E1 1.000000 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 115 record-level condition-associated architecture; not patient coverage or disease prevalence PAH PAH-related disorder pah_related_disorder . 51 51 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PAH:single_exon:E6 0.196078 197 PAH:exon_block:E3-E7 0.568627 42104 PAH:boundary_CDS_coverage:after_E1 0.980392 1296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 X-linked intellectual disability-psychosis-macroorchidism syndrome mondo_mondo_0010235_medgen_c0796222_omim_300055_orphanet_3077 MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055,Orphanet:3077 51 51 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MECP2:single_exon:E3 0.823529 9878 MECP2:exon_block:E1-E3 0.960784 76145 MECP2:boundary_CDS_coverage:after_E1 0.941176 1432 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Hereditary factor IX deficiency disease mondo_mondo_0010604_mesh_d002836_medgen_c0008533_omim_306900_orphanet_98879 MONDO:MONDO:0010604,MeSH:D002836,MedGen:C0008533,OMIM:306900,Orphanet:98879 51 51 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis F8:single_exon:E14 0.137255 3106 F8:exon_block:E10-E14 0.372549 32598 F8:boundary_CDS_coverage:after_E1 0.960784 6910 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 110 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 50 50 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPG11:single_exon:E2 0.080000 185 SPG11:exon_block:E28-E32 0.240000 15868 SPG11:boundary_CDS_coverage:after_E1 1.000000 7072 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 173 record-level condition-associated architecture; not patient coverage or disease prevalence RP1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 50 50 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RP1:single_exon:E4 0.880000 6165 RP1:exon_block:E2-E4 1.000000 9880 RP1:boundary_CDS_coverage:after_E1 1.000000 6468 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 11 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 50 50 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RIF1:boundary_CDS_coverage:after_E1 1.000000 7416 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 Polycystic kidney disease human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 49 49 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD2:single_exon:E4 0.204082 251 PKD2:exon_block:E1-E5 0.530612 35823 PKD2:boundary_CDS_coverage:after_E1 0.877551 2309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Myosin storage myopathy mondo_mondo_0008409_medgen_c1842160_omim_608358_orphanet_437572_orphanet_636965 MONDO:MONDO:0008409,MedGen:C1842160,OMIM:608358,Orphanet:437572,Orphanet:636965 49 49 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.081633 256 MYH7:exon_block:E12-E16 0.244898 2329 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 165 record-level condition-associated architecture; not patient coverage or disease prevalence GNPTAB Mucolipidosis mondo_mondo_0019248_medgen_c0026697_orphanet_79212 MONDO:MONDO:0019248,MedGen:C0026697,Orphanet:79212 49 49 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GNPTAB:single_exon:E13 0.285714 1103 GNPTAB:exon_block:E11-E15 0.448980 7034 GNPTAB:boundary_CDS_coverage:after_E1 0.959184 3651 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 91 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Isolated thoracic aortic aneurysm isolated_thoracic_aortic_aneurysm . 49 49 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E19 0.081633 126 FBN1:exon_block:E18-E22 0.163265 3916 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 265 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Leber congenital amaurosis 13 mondo_mondo_0012990_medgen_c2675186_omim_612712 MONDO:MONDO:0012990,MedGen:C2675186,OMIM:612712 48 48 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ZFYVE26:boundary_CDS_coverage:after_E1 1.000000 7617 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 Alport syndrome mondo_mondo_0018965_medgen_c1567741_omim_ps301050_orphanet_63 MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63 48 48 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A5:single_exon:E20 0.062500 174 COL4A5:exon_block:E23-E27 0.208333 4992 COL4A5:boundary_CDS_coverage:after_E1 1.000000 4992 large_gene_or_donor_burden_stress_case donor_burden_stress 208 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant mondo_mondo_0032814_medgen_c5231411_omim_618564_orphanet_477749 MONDO:MONDO:0032814,MedGen:C5231411,OMIM:618564,Orphanet:477749 48 48 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A1:single_exon:E29 0.083333 98 COL4A1:exon_block:E28-E32 0.229167 5034 COL4A1:boundary_CDS_coverage:after_E1 0.979167 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 202 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 ATM-related cancer predisposition mondo_mondo_0700270_medgen_cn377759 MONDO:MONDO:0700270,MedGen:CN377759 48 48 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis C11orf65:boundary_CDS_coverage:after_E1 0.979167 939 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence SPAST Hereditary spastic paraplegia mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 47 47 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPAST:single_exon:E11 0.148936 92 SPAST:exon_block:E7-E11 0.489362 20850 SPAST:boundary_CDS_coverage:after_E1 0.893617 1433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 75 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Short stature-optic atrophy-Pelger-Huët anomaly syndrome mondo_mondo_0013889_medgen_c3541319_omim_614800_orphanet_391677 MONDO:MONDO:0013889,MedGen:C3541319,OMIM:614800,Orphanet:391677 47 47 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NBAS:single_exon:E36 0.085106 168 NBAS:exon_block:E24-E28 0.170213 23486 NBAS:boundary_CDS_coverage:after_E1 0.936170 6996 large_gene_or_donor_burden_stress_case donor_burden_stress 225 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 47 47 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LMNA:single_exon:E4 0.191489 171 LMNA:exon_block:E2-E6 0.659574 5505 LMNA:boundary_CDS_coverage:after_E1 0.914894 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Infantile cortical hyperostosis mondo_mondo_0007244_medgen_c0020497_omim_114000_orphanet_1310 MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,Orphanet:1310 47 47 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E8 0.063830 54 COL1A1:exon_block:E15-E19 0.170213 968 COL1A1:boundary_CDS_coverage:after_E1 1.000000 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 207 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Cognitive impairment with or without cerebellar ataxia mondo_mondo_0013680_medgen_c3280415_omim_614306 MONDO:MONDO:0013680,MedGen:C3280415,OMIM:614306 46 46 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN8A:single_exon:E16 0.173913 357 SCN8A:exon_block:E3-E7 0.304348 15618 SCN8A:boundary_CDS_coverage:after_E1 0.978261 5940 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 117 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 46 46 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN2A:single_exon:E27 0.239130 3676 SCN2A:exon_block:E23-E27 0.369565 14708 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 114 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Noonan syndrome 10 mondo_mondo_0014693_medgen_c4225280_omim_616564_orphanet_648 MONDO:MONDO:0014693,MedGen:C4225280,OMIM:616564,Orphanet:648 46 46 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LZTR1:single_exon:E5 0.152174 109 LZTR1:exon_block:E5-E9 0.413043 3820 LZTR1:boundary_CDS_coverage:after_E1 0.934783 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 93 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 Epidermolysis bullosa, junctional 2B, severe mondo_mondo_0030747_medgen_c5676937_omim_619784 MONDO:MONDO:0030747,MedGen:C5676937,OMIM:619784 46 46 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMA3:single_exon:E40 0.086957 110 LAMA3:exon_block:E62-E66 0.239130 10840 LAMA3:boundary_CDS_coverage:after_E1 1.000000 9705 large_gene_or_donor_burden_stress_case donor_burden_stress 211 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 Autosomal dominant Alport syndrome mondo_mondo_0007086_medgen_c5882663_omim_104200_orphanet_63_orphanet_88918 MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918 46 46 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A4:single_exon:E47 0.086957 287 COL4A4:exon_block:E18-E22 0.217391 11037 COL4A4:boundary_CDS_coverage:after_E1 1.000000 5070 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 193 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 46 46 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHD7:single_exon:E31 0.108696 672 CHD7:exon_block:E11-E15 0.217391 8554 CHD7:boundary_CDS_coverage:after_E1 1.000000 8991 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 161 record-level condition-associated architecture; not patient coverage or disease prevalence ARID1B ARID1B-related BAFopathy arid1b_related_bafopathy . 46 46 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ARID1B:single_exon:E20 0.217391 4613 ARID1B:exon_block:E17-E20 0.413043 11969 ARID1B:boundary_CDS_coverage:after_E1 0.934783 5325 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 87 record-level condition-associated architecture; not patient coverage or disease prevalence VWF von Willebrand disorder mondo_mondo_0024574_mesh_d014842_medgen_c0042974 MONDO:MONDO:0024574,MeSH:D014842,MedGen:C0042974 45 45 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VWF:single_exon:E28 0.244444 1379 VWF:exon_block:E24-E28 0.400000 7329 VWF:boundary_CDS_coverage:after_E1 1.000000 8439 large_gene_or_donor_burden_stress_case donor_burden_stress 194 record-level condition-associated architecture; not patient coverage or disease prevalence SYNGAP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 45 45 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SYNGAP1:single_exon:E15 0.177778 1072 SYNGAP1:exon_block:E7-E11 0.422222 5451 SYNGAP1:boundary_CDS_coverage:after_E1 0.955556 3962 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 80 record-level condition-associated architecture; not patient coverage or disease prevalence PEX1 Peroxisome biogenesis disorder mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 45 45 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PEX1:single_exon:E5 0.155556 767 PEX1:exon_block:E11-E15 0.311111 4838 PEX1:boundary_CDS_coverage:after_E1 0.933333 3720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence MYO15A Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 45 45 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO15A:single_exon:E2 0.266667 3828 MYO15A:exon_block:E2-E5 0.288889 7875 MYO15A:boundary_CDS_coverage:after_E1 0.977778 10590 large_gene_or_donor_burden_stress_case donor_burden_stress 224 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Atrial fibrillation, familial, 3 mondo_mondo_0011857_medgen_c1837014_omim_607554 MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554 45 45 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E3 0.133333 127 KCNQ1:exon_block:E3-E7 0.533333 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.933333 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 71 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 UV-sensitive syndrome 1 mondo_mondo_0010909_medgen_c3551173_omim_600630_orphanet_178338 MONDO:MONDO:0010909,MedGen:C3551173,OMIM:600630,Orphanet:178338 45 45 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC6:single_exon:E5 0.133333 745 ERCC6:exon_block:E2-E6 0.466667 27095 ERCC6:boundary_CDS_coverage:after_E1 1.000000 4479 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Premature ovarian failure 11 mondo_mondo_0014843_medgen_c4310783_omim_616946 MONDO:MONDO:0014843,MedGen:C4310783,OMIM:616946 45 45 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC6:single_exon:E5 0.133333 745 ERCC6:exon_block:E2-E6 0.466667 27095 ERCC6:boundary_CDS_coverage:after_E1 1.000000 4479 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 45 45 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CNGA3:single_exon:E8 0.733333 2758 CNGA3:exon_block:E4-E8 1.000000 18427 CNGA3:boundary_CDS_coverage:after_E1 1.000000 2082 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 25 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Retinitis pigmentosa 87 with choroidal involvement mondo_mondo_0032873_medgen_c5231465_omim_618697 MONDO:MONDO:0032873,MedGen:C5231465,OMIM:618697 44 44 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPE65:single_exon:E12 0.136364 95 RPE65:exon_block:E9-E13 0.431818 8017 RPE65:boundary_CDS_coverage:after_E1 0.954545 1588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Retinitis pigmentosa 76 mondo_mondo_0014929_medgen_c4310704_omim_617123 MONDO:MONDO:0014929,MedGen:C4310704,OMIM:617123 44 44 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POMGNT1:single_exon:E20 0.136364 136 POMGNT1:exon_block:E17-E21 0.409091 2766 POMGNT1:boundary_CDS_coverage:after_E1 1.000000 1980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 97 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Age related macular degeneration 5 mondo_mondo_0013409_medgen_c3151063_omim_613761 MONDO:MONDO:0013409,MedGen:C3151063,OMIM:613761 44 44 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC6:single_exon:E5 0.136364 745 ERCC6:exon_block:E2-E6 0.454545 27095 ERCC6:boundary_CDS_coverage:after_E1 1.000000 4479 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Kniest dysplasia mondo_mondo_0007987_medgen_c0265279_omim_156550_orphanet_485 MONDO:MONDO:0007987,MedGen:C0265279,OMIM:156550,Orphanet:485 44 44 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E20 0.113636 45 COL2A1:exon_block:E16-E20 0.272727 5663 COL2A1:boundary_CDS_coverage:after_E1 0.977273 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 186 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Ehlers-Danlos syndrome, arthrochalasia type mondo_mondo_0007525_medgen_c4551623_omim_130060_orphanet_1899_orphanet_99875_orphanet_99876 MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876 44 44 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E6 0.090909 72 COL1A1:exon_block:E6-E8 0.159091 556 COL1A1:boundary_CDS_coverage:after_E1 1.000000 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 210 record-level condition-associated architecture; not patient coverage or disease prevalence BEST1 Autosomal recessive bestrophinopathy mondo_mondo_0012733_medgen_c3888198_omim_611809_orphanet_139455 MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809,Orphanet:139455 44 44 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BEST1:single_exon:E4 0.227273 234 BEST1:exon_block:E2-E6 0.704545 5694 BEST1:boundary_CDS_coverage:after_E1 0.977273 1755 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 46 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Malignant hyperthermia of anesthesia human_phenotype_ontology_hp_0034733_mondo_mondo_0018493_medgen_c0024591_orphanet_423 Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423 43 43 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E45 0.093023 109 RYR1:exon_block:E42-E46 0.255814 3867 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 278 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 Laryngo-onycho-cutaneous syndrome mondo_mondo_0009513_medgen_c1328355_omim_245660_orphanet_2407 MONDO:MONDO:0009513,MedGen:C1328355,OMIM:245660,Orphanet:2407 43 43 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMA3:single_exon:E44 0.069767 152 LAMA3:exon_block:E38-E40 0.186047 10615 LAMA3:boundary_CDS_coverage:after_E1 1.000000 9705 large_gene_or_donor_burden_stress_case donor_burden_stress 212 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 FBN1-related disorder fbn1_related_disorder . 43 43 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E53 0.069767 117 FBN1:exon_block:E23-E27 0.139535 6142 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 265 record-level condition-associated architecture; not patient coverage or disease prevalence ERCC6 Lung cancer mondo_mondo_0008903_medgen_c0242379_omim_211980 MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 43 43 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ERCC6:single_exon:E5 0.139535 745 ERCC6:exon_block:E2-E6 0.465116 27095 ERCC6:boundary_CDS_coverage:after_E1 1.000000 4479 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Neonatal severe primary hyperparathyroidism mondo_mondo_0009397_medgen_c1832615_omim_239200_orphanet_417 MONDO:MONDO:0009397,MedGen:C1832615,OMIM:239200,Orphanet:417 43 43 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CASR:single_exon:E4 0.302326 885 CASR:exon_block:E3-E7 0.930233 34549 CASR:boundary_CDS_coverage:after_E1 1.000000 3234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 26 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 43 43 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CACNA1A:single_exon:E20 0.093023 464 CACNA1A:exon_block:E16-E20 0.302326 17382 CACNA1A:boundary_CDS_coverage:after_E1 1.000000 7225 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 189 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Idiopathic and/or familial pulmonary arterial hypertension medgen_c5679820_orphanet_422 MedGen:C5679820,Orphanet:422 43 43 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BMPR2:single_exon:E12 0.232558 1280 BMPR2:exon_block:E8-E12 0.511628 25738 BMPR2:boundary_CDS_coverage:after_E1 0.883721 3038 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 54 record-level condition-associated architecture; not patient coverage or disease prevalence PCNT PCNT-related disorder pcnt_related_disorder . 42 42 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PCNT:single_exon:E38 0.119048 687 PCNT:exon_block:E38-E42 0.238095 8674 PCNT:boundary_CDS_coverage:after_E1 1.000000 9954 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 173 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Short QT syndrome type 2 mondo_mondo_0012313_medgen_c1865019_omim_609621_orphanet_51083 MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083 42 42 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E6 0.166667 141 KCNQ1:exon_block:E3-E7 0.547619 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.928571 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 71 record-level condition-associated architecture; not patient coverage or disease prevalence GALNS Morquio syndrome mondo_mondo_0018938_medgen_c0026707_orphanet_582 MONDO:MONDO:0018938,MedGen:C0026707,Orphanet:582 42 42 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GALNS:single_exon:E5 0.166667 144 GALNS:exon_block:E5-E9 0.523810 5768 GALNS:boundary_CDS_coverage:after_E1 1.000000 1446 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 61 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 Benign familial hematuria mondo_mondo_0957317_medgen_c0241908_omim_ps141200 MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200 42 42 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A3:single_exon:E13 0.071429 78 COL4A3:exon_block:E36-E40 0.214286 5064 COL4A3:boundary_CDS_coverage:after_E1 1.000000 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 213 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Primary familial hypertrophic cardiomyopathy mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 41 41 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.170732 256 MYH7:exon_block:E19-E23 0.365854 2175 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 154 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR LDLR-related disorder ldlr_related_disorder . 41 41 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LDLR:single_exon:E4 0.146341 381 LDLR:exon_block:E3-E7 0.463415 8108 LDLR:boundary_CDS_coverage:after_E1 1.000000 2513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 76 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC2 Epidermolysis bullosa, junctional 3B, severe mondo_mondo_0030749_medgen_c5676939_omim_619786 MONDO:MONDO:0030749,MedGen:C5676939,OMIM:619786 41 41 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMC2:single_exon:E14 0.121951 206 LAMC2:exon_block:E10-E14 0.365854 5343 LAMC2:boundary_CDS_coverage:after_E1 1.000000 3500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 103 record-level condition-associated architecture; not patient coverage or disease prevalence FLG Dermatitis, atopic, 2 mondo_mondo_0011596_medgen_c1853965_omim_605803 MONDO:MONDO:0011596,MedGen:C1853965,OMIM:605803 41 41 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLG:single_exon:E3 0.975610 12583 FLG:exon_block:E2-E3 1.000000 13313 FLG:boundary_CDS_coverage:after_E1 1.000000 12183 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 7 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis mondo_mondo_0014355_medgen_c4014393_omim_615821_orphanet_476096_orphanet_65282 MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282 41 41 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E23 0.268293 2295 DSP:exon_block:E20-E24 0.536585 9756 DSP:boundary_CDS_coverage:after_E1 0.951220 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 93 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Stickler syndrome, type I, nonsyndromic ocular mondo_mondo_0012287_medgen_c1836080_omim_609508 MONDO:MONDO:0012287,MedGen:C1836080,OMIM:609508 41 41 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E2 0.146341 207 COL2A1:exon_block:E40-E44 0.195122 2053 COL2A1:boundary_CDS_coverage:after_E1 0.975610 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 214 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 CHD7-related disorder chd7_related_disorder . 41 41 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHD7:single_exon:E2 0.121951 1839 CHD7:exon_block:E11-E15 0.243902 8554 CHD7:boundary_CDS_coverage:after_E1 1.000000 8991 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 153 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Infantile epilepsy syndrome mondo_mondo_0020071_medgen_cn276928 MONDO:MONDO:0020071,MedGen:CN276928 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis STXBP1:single_exon:E9 0.175000 131 STXBP1:exon_block:E6-E10 0.375000 7086 STXBP1:boundary_CDS_coverage:after_E1 0.950000 1745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 84 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 Waardenburg syndrome type 2E mondo_mondo_0012698_medgen_c2700405_omim_611584_orphanet_3440 MONDO:MONDO:0012698,MedGen:C2700405,OMIM:611584,Orphanet:3440 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SOX10:single_exon:E2 0.525000 512 SOX10:exon_block:E2-E4 1.000000 11557 SOX10:boundary_CDS_coverage:after_E1 1.000000 1398 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 11 record-level condition-associated architecture; not patient coverage or disease prevalence RPE65 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPE65:single_exon:E10 0.150000 130 RPE65:exon_block:E1-E5 0.425000 5424 RPE65:boundary_CDS_coverage:after_E1 0.950000 1588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 62 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F Waardenburg syndrome type 2E mondo_mondo_0012698_medgen_c2700405_omim_611584_orphanet_3440 MONDO:MONDO:0012698,MedGen:C2700405,OMIM:611584,Orphanet:3440 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLR2F:boundary_CDS_coverage:after_E1 1.000000 361 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence POLG POLG-related disorder medgen_c4763519 MedGen:C4763519 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLG:single_exon:E22 0.125000 161 POLG:exon_block:E12-E16 0.325000 2166 POLG:boundary_CDS_coverage:after_E1 1.000000 3717 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 101 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A5 COL4A5-related disorder col4a5_related_disorder . 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A5:single_exon:E20 0.100000 174 COL4A5:exon_block:E34-E38 0.275000 41352 COL4A5:boundary_CDS_coverage:after_E1 1.000000 4992 large_gene_or_donor_burden_stress_case donor_burden_stress 211 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Spondyloperipheral dysplasia mondo_mondo_0010078_medgen_c0796173_omim_271700_orphanet_1856 MONDO:MONDO:0010078,MedGen:C0796173,OMIM:271700,Orphanet:1856 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E42 0.100000 162 COL2A1:exon_block:E42-E45 0.225000 1159 COL2A1:boundary_CDS_coverage:after_E1 0.975000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 190 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Ehlers-Danlos syndrome, arthrochalasia type, 2 mondo_mondo_0040501_medgen_cn293783_omim_617821 MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E6 0.125000 54 COL1A2:exon_block:E5-E9 0.200000 4697 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 210 record-level condition-associated architecture; not patient coverage or disease prevalence CDKL5 Atypical Rett syndrome mondo_mondo_0017746_medgen_c2748910_orphanet_3095 MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:3095 40 40 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDKL5:single_exon:E12 0.275000 967 CDKL5:exon_block:E8-E12 0.525000 20606 CDKL5:boundary_CDS_coverage:after_E1 1.000000 2880 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 73 record-level condition-associated architecture; not patient coverage or disease prevalence SLC4A1 Hereditary spherocytosis type 4 mondo_mondo_0012981_medgen_c2675212_omim_612653_orphanet_822 MONDO:MONDO:0012981,MedGen:C2675212,OMIM:612653,Orphanet:822 39 39 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC4A1:single_exon:E17 0.179487 254 SLC4A1:exon_block:E13-E17 0.461538 4427 SLC4A1:boundary_CDS_coverage:after_E1 1.000000 2733 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 83 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 39 39 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ2:single_exon:E4 0.256410 176 KCNQ2:exon_block:E1-E5 0.589744 30250 KCNQ2:boundary_CDS_coverage:after_E1 0.923077 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 73 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 JAG1-related disorder jag1_related_disorder . 39 39 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis JAG1:single_exon:E4 0.128205 255 JAG1:exon_block:E1-E5 0.333333 17602 JAG1:boundary_CDS_coverage:after_E1 0.897436 3573 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 114 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D GUCY2D-related recessive retinopathy mondo_mondo_0100453_medgen_cn305603 MONDO:MONDO:0100453,MedGen:CN305603 39 39 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GUCY2D:single_exon:E2 0.153846 730 GUCY2D:exon_block:E2-E6 0.410256 4490 GUCY2D:boundary_CDS_coverage:after_E1 0.974359 3309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 88 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Hyperinsulinism due to glucokinase deficiency mondo_mondo_0011236_medgen_c1865290_omim_602485_orphanet_79299 MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299 39 39 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GCK:single_exon:E10 0.179487 1006 GCK:exon_block:E6-E10 0.692308 5585 GCK:boundary_CDS_coverage:after_E1 1.000000 1350 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence RYR2 Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR2:single_exon:E90 0.157895 1298 RYR2:exon_block:E86-E90 0.210526 12961 RYR2:boundary_CDS_coverage:after_E1 1.000000 14853 large_gene_or_donor_burden_stress_case donor_burden_stress 197 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 Epidermolysis bullosa, junctional 2A, intermediate mondo_mondo_0030746_medgen_c5676936_omim_619783 MONDO:MONDO:0030746,MedGen:C5676936,OMIM:619783 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMA3:single_exon:E47 0.078947 168 LAMA3:exon_block:E62-E66 0.210526 10840 LAMA3:boundary_CDS_coverage:after_E1 1.000000 9705 large_gene_or_donor_burden_stress_case donor_burden_stress 202 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Retinal arterial tortuosity human_phenotype_ontology_hp_0000631_mondo_mondo_0008373_medgen_c0423401_omim_180000_orphanet_75326 Human_Phenotype_Ontology:HP:0000631,MONDO:MONDO:0008373,MedGen:C0423401,OMIM:180000,Orphanet:75326 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A1:single_exon:E24 0.105263 71 COL4A1:exon_block:E22-E26 0.236842 8734 COL4A1:boundary_CDS_coverage:after_E1 1.000000 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 182 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 Hemorrhage, intracerebral, susceptibility to mondo_mondo_0100533_medgen_c3281105_omim_614519 MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A1:single_exon:E24 0.078947 71 COL4A1:exon_block:E28-E32 0.236842 5034 COL4A1:boundary_CDS_coverage:after_E1 1.000000 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 182 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 mondo_mondo_0030854_medgen_c5436842_omim_619115 MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E7 0.078947 45 COL1A1:exon_block:E7-E11 0.210526 1196 COL1A1:boundary_CDS_coverage:after_E1 1.000000 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 205 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 Hypogonadotropic hypogonadism 5 with or without anosmia mondo_mondo_0012880_medgen_c3552553_omim_612370_orphanet_478 MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHD7:single_exon:E31 0.157895 672 CHD7:exon_block:E30-E34 0.263158 4391 CHD7:boundary_CDS_coverage:after_E1 1.000000 8991 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 150 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDH23:single_exon:E18 0.078947 128 CDH23:exon_block:E47-E51 0.184211 8149 CDH23:boundary_CDS_coverage:after_E1 1.000000 10062 large_gene_or_donor_burden_stress_case donor_burden_stress 253 record-level condition-associated architecture; not patient coverage or disease prevalence ALPL ALPL-related disorder alpl_related_disorder . 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALPL:single_exon:E10 0.210526 192 ALPL:exon_block:E6-E10 0.578947 11884 ALPL:boundary_CDS_coverage:after_E1 1.000000 1572 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Usher syndrome mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 38 38 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ADGRV1:single_exon:E15 0.105263 164 ADGRV1:exon_block:E15-E19 0.157895 7858 ADGRV1:boundary_CDS_coverage:after_E1 1.000000 18896 large_gene_or_donor_burden_stress_case donor_burden_stress 285 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A SCN2A-related disorder scn2a_related_disorder . 37 37 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN2A:single_exon:E27 0.189189 3676 SCN2A:exon_block:E14-E17 0.297297 23342 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 109 record-level condition-associated architecture; not patient coverage or disease prevalence SCN1A SCN1A-related disorder scn1a_related_disorder . 37 37 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN1A:single_exon:E29 0.189189 6610 SCN1A:exon_block:E25-E29 0.270270 13964 SCN1A:boundary_CDS_coverage:after_E1 1.000000 6027 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 120 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 RYR1-related myopathy mondo_mondo_0100150_medgen_cn305348_orphanet_98742 MONDO:MONDO:0100150,MedGen:CN305348,Orphanet:98742 37 37 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E100 0.081081 147 RYR1:exon_block:E100-E104 0.216216 6210 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 309 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Myopathy, myosin storage, autosomal recessive mondo_mondo_0009708_medgen_c1850709_omim_255160_orphanet_636970 MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160,Orphanet:636970 37 37 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.108108 256 MYH7:exon_block:E19-E23 0.324324 2175 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 150 record-level condition-associated architecture; not patient coverage or disease prevalence LAMC2 Epidermolysis bullosa, junctional 3A, intermediate mondo_mondo_0030748_medgen_c5676938_omim_619785 MONDO:MONDO:0030748,MedGen:C5676938,OMIM:619785 37 37 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMC2:single_exon:E12 0.108108 143 LAMC2:exon_block:E11-E15 0.405405 6073 LAMC2:boundary_CDS_coverage:after_E1 1.000000 3500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 101 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 37 37 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KMT2D:single_exon:E40 0.270270 2790 KMT2D:exon_block:E40-E44 0.324324 4564 KMT2D:boundary_CDS_coverage:after_E1 1.000000 16611 large_gene_or_donor_burden_stress_case donor_burden_stress 196 record-level condition-associated architecture; not patient coverage or disease prevalence PKD2 PKD2-related disorder pkd2_related_disorder . 36 36 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD2:single_exon:E4 0.250000 251 PKD2:exon_block:E1-E4 0.416667 30867 PKD2:boundary_CDS_coverage:after_E1 0.916667 2309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 65 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Dextro-looped transposition of the great arteries human_phenotype_ontology_hp_0031348_mondo_mondo_0019443_medgen_c3531771_omim_608808_orphanet_860 Human_Phenotype_Ontology:HP:0031348,MONDO:MONDO:0019443,MedGen:C3531771,OMIM:608808,Orphanet:860 36 36 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MED13L:single_exon:E17 0.083333 938 MED13L:exon_block:E8-E12 0.222222 8969 MED13L:boundary_CDS_coverage:after_E1 1.000000 6558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 139 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D KMT2D-related disorder kmt2d_related_disorder . 36 36 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KMT2D:single_exon:E40 0.222222 2790 KMT2D:exon_block:E39-E40 0.277778 3125 KMT2D:boundary_CDS_coverage:after_E1 1.000000 16611 large_gene_or_donor_burden_stress_case donor_burden_stress 154 record-level condition-associated architecture; not patient coverage or disease prevalence HADHA Mitochondrial trifunctional protein deficiency 1 mondo_mondo_0958181_medgen_cn376812_omim_609015 MONDO:MONDO:0958181,MedGen:CN376812,OMIM:609015 36 36 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HADHA:single_exon:E3 0.138889 71 HADHA:exon_block:E2-E6 0.333333 6984 HADHA:boundary_CDS_coverage:after_E1 0.972222 2222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 87 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Cardiovascular phenotype cardiovascular_phenotype MedGen:CN230736 36 36 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E25 0.083333 156 DMD:exon_block:E24-E27 0.166667 16244 DMD:boundary_CDS_coverage:after_E1 0.888889 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 249 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Spondyloepimetaphyseal dysplasia, Strudwick type mondo_mondo_0008476_medgen_c0700635_omim_184250_orphanet_93346 MONDO:MONDO:0008476,MedGen:C0700635,OMIM:184250,Orphanet:93346 36 36 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E17 0.083333 45 COL2A1:exon_block:E41-E45 0.277778 1965 COL2A1:boundary_CDS_coverage:after_E1 0.972222 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 176 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 36 36 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDH23:single_exon:E56 0.111111 192 CDH23:exon_block:E52-E56 0.222222 6506 CDH23:boundary_CDS_coverage:after_E1 1.000000 10062 large_gene_or_donor_burden_stress_case donor_burden_stress 256 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B VPS13B-related disorder vps13b_related_disorder . 35 35 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VPS13B:single_exon:E61 0.114286 250 VPS13B:exon_block:E31-E35 0.228571 105042 VPS13B:boundary_CDS_coverage:after_E1 1.000000 11991 large_gene_or_donor_burden_stress_case donor_burden_stress 211 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 35 35 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GCK:single_exon:E7 0.200000 184 GCK:exon_block:E6-E10 0.685714 5585 GCK:boundary_CDS_coverage:after_E1 1.000000 1350 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence CRB1 Retinitis pigmentosa human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 35 35 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CRB1:single_exon:E6 0.371429 957 CRB1:exon_block:E5-E9 0.685714 78782 CRB1:boundary_CDS_coverage:after_E1 0.942857 4148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 49 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 COL1A2-related disorder col1a2_related_disorder . 35 35 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E17 0.085714 99 COL1A2:exon_block:E16-E19 0.228571 1052 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 200 record-level condition-associated architecture; not patient coverage or disease prevalence ALMS1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 35 35 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ALMS1:single_exon:E8 0.428571 6108 ALMS1:exon_block:E8-E12 0.600000 86990 ALMS1:boundary_CDS_coverage:after_E1 1.000000 12180 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 80 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 35 35 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ADGRV1:single_exon:E12 0.057143 127 ADGRV1:exon_block:E46-E49 0.142857 4102 ADGRV1:boundary_CDS_coverage:after_E1 1.000000 18896 large_gene_or_donor_burden_stress_case donor_burden_stress 298 record-level condition-associated architecture; not patient coverage or disease prevalence SERPING1 Hereditary angioedema with C1Inh deficiency mondo_mondo_0033946_medgen_c4552294_orphanet_528623 MONDO:MONDO:0033946,MedGen:C4552294,Orphanet:528623 34 34 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SERPING1:single_exon:E3 0.264706 499 SERPING1:exon_block:E3-E7 0.823529 12058 SERPING1:boundary_CDS_coverage:after_E1 1.000000 1500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 29 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 GJB2-related disorder gjb2_related_disorder . 34 34 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.970588 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.970588 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Ehlers-Danlos syndrome, cardiac valvular type mondo_mondo_0009159_medgen_c4303789_omim_225320_orphanet_230851 MONDO:MONDO:0009159,MedGen:C4303789,OMIM:225320,Orphanet:230851 34 34 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E42 0.088235 108 COL1A2:exon_block:E19-E23 0.205882 1432 COL1A2:boundary_CDS_coverage:after_E1 0.970588 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 208 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 34 34 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ATP7B:single_exon:E8 0.176471 234 ATP7B:exon_block:E12-E16 0.411765 8716 ATP7B:boundary_CDS_coverage:after_E1 1.000000 4344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 90 record-level condition-associated architecture; not patient coverage or disease prevalence RPGR X-linked cone-rod dystrophy 1 mondo_mondo_0010566_medgen_c1844776_omim_304020_orphanet_1872 MONDO:MONDO:0010566,MedGen:C1844776,OMIM:304020,Orphanet:1872 33 33 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGR:single_exon:E15 0.696970 2838 RPGR:exon_block:E11-E15 0.848485 13045 RPGR:boundary_CDS_coverage:after_E1 1.000000 3428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence POMGNT1 Muscular dystrophy-dystroglycanopathy mondo_mondo_0018276_medgen_c5679911_orphanet_370953 MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 33 33 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POMGNT1:single_exon:E7 0.151515 118 POMGNT1:exon_block:E17-E21 0.393939 2766 POMGNT1:boundary_CDS_coverage:after_E1 1.000000 1980 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 83 record-level condition-associated architecture; not patient coverage or disease prevalence OPA1 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy mondo_mondo_0007429_medgen_c3276549_omim_125250 MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250 33 33 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OPA1:single_exon:E11 0.151515 114 OPA1:exon_block:E15-E19 0.424242 3653 OPA1:boundary_CDS_coverage:after_E1 0.969697 3013 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 120 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 NOTCH3-related disorder notch3_related_disorder . 33 33 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NOTCH3:single_exon:E4 0.333333 339 NOTCH3:exon_block:E2-E6 0.636364 6155 NOTCH3:boundary_CDS_coverage:after_E1 1.000000 6845 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 95 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 Seizure human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 33 33 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ2:single_exon:E6 0.181818 111 KCNQ2:exon_block:E3-E7 0.606061 6740 KCNQ2:boundary_CDS_coverage:after_E1 0.909091 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 65 record-level condition-associated architecture; not patient coverage or disease prevalence CDH23 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 33 33 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CDH23:single_exon:E48 0.121212 459 CDH23:exon_block:E45-E48 0.272727 4701 CDH23:boundary_CDS_coverage:after_E1 1.000000 10062 large_gene_or_donor_burden_stress_case donor_burden_stress 242 record-level condition-associated architecture; not patient coverage or disease prevalence SMARCA4 Intellectual disability, autosomal dominant 16 mondo_mondo_0013821_medgen_c3553249_omim_614609_orphanet_1465 MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SMARCA4:single_exon:E19 0.250000 243 SMARCA4:exon_block:E17-E21 0.468750 5482 SMARCA4:boundary_CDS_coverage:after_E1 1.000000 4941 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 128 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Congenital long QT syndrome mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.312500 3497 SCN5A:exon_block:E25-E28 0.437500 8517 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 105 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Developmental and epileptic encephalopathy mondo_mondo_0100620_medgen_c5779964 MONDO:MONDO:0100620,MedGen:C5779964 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN2A:single_exon:E27 0.250000 3676 SCN2A:exon_block:E23-E27 0.468750 14708 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 104 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 succinylcholine response - Toxicity succinylcholine_response_toxicity . 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E44 0.125000 187 RYR1:exon_block:E43-E47 0.406250 1883 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 sevoflurane response - Toxicity sevoflurane_response_toxicity . 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E44 0.125000 187 RYR1:exon_block:E43-E47 0.406250 1883 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 methoxyflurane response - Toxicity methoxyflurane_response_toxicity . 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E44 0.125000 187 RYR1:exon_block:E43-E47 0.406250 1883 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 isoflurane response - Toxicity isoflurane_response_toxicity . 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E44 0.125000 187 RYR1:exon_block:E43-E47 0.406250 1883 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 halothane response - Toxicity halothane_response_toxicity . 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E44 0.125000 187 RYR1:exon_block:E43-E47 0.406250 1883 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 enflurane response - Toxicity enflurane_response_toxicity . 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E44 0.125000 187 RYR1:exon_block:E43-E47 0.406250 1883 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 desflurane response - Toxicity desflurane_response_toxicity . 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E44 0.125000 187 RYR1:exon_block:E43-E47 0.406250 1883 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence RYR1 Congenital myopathy with fiber type disproportion mondo_mondo_0009711_medgen_c0546264_orphanet_2020 MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RYR1:single_exon:E34 0.093750 613 RYR1:exon_block:E44-E48 0.218750 3093 RYR1:boundary_CDS_coverage:after_E1 1.000000 15069 large_gene_or_donor_burden_stress_case donor_burden_stress 234 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PAH:single_exon:E7 0.250000 136 PAH:exon_block:E3-E7 0.562500 42104 PAH:boundary_CDS_coverage:after_E1 0.937500 1296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence LMNA Hutchinson-Gilford syndrome mondo_mondo_0008310_medgen_c0033300_omim_176670_orphanet_740 MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670,Orphanet:740 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LMNA:single_exon:E11 0.187500 270 LMNA:exon_block:E1-E5 0.437500 20602 LMNA:boundary_CDS_coverage:after_E1 0.843750 1636 compact_adjacent_exon_block_opportunity local_compact_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ2 KCNQ2-related disorder kcnq2_related_disorder MedGen:CN169299 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ2:single_exon:E6 0.250000 111 KCNQ2:exon_block:E2-E6 0.750000 7240 KCNQ2:boundary_CDS_coverage:after_E1 0.968750 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 51 record-level condition-associated architecture; not patient coverage or disease prevalence GNE Thrombocytopenia 12 with or without myopathy mondo_mondo_0958325_medgen_c5935593_omim_620757 MONDO:MONDO:0958325,MedGen:C5935593,OMIM:620757 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GNE:single_exon:E3 0.250000 452 GNE:exon_block:E3-E7 0.562500 19235 GNE:boundary_CDS_coverage:after_E1 0.968750 2166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A4 COL4A4-related disorder col4a4_related_disorder . 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A4:single_exon:E7 0.093750 117 COL4A4:exon_block:E28-E32 0.281250 7319 COL4A4:boundary_CDS_coverage:after_E1 1.000000 5070 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 180 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Platyspondylic dysplasia, Torrance type mondo_mondo_0007895_medgen_c1835437_omim_151210_orphanet_85166 MONDO:MONDO:0007895,MedGen:C1835437,OMIM:151210,Orphanet:85166 32 32 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E42 0.125000 162 COL2A1:exon_block:E42-E45 0.281250 1159 COL2A1:boundary_CDS_coverage:after_E1 0.968750 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 190 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Hearing loss medgen_c3887873 MedGen:C3887873 31 31 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.967742 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.967742 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence GCK Permanent neonatal diabetes mellitus 1 mondo_mondo_0100165_medgen_c5393570_omim_606176 MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176 31 31 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GCK:single_exon:E7 0.193548 184 GCK:exon_block:E6-E10 0.677419 5585 GCK:boundary_CDS_coverage:after_E1 1.000000 1350 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 41 record-level condition-associated architecture; not patient coverage or disease prevalence CPLANE1 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 31 31 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CPLANE1:single_exon:E12 0.161290 770 CPLANE1:exon_block:E10-E13 0.258065 3286 CPLANE1:boundary_CDS_coverage:after_E1 1.000000 9753 large_gene_or_donor_burden_stress_case donor_burden_stress 194 record-level condition-associated architecture; not patient coverage or disease prevalence COL3A1 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome mondo_mondo_0032688_medgen_c5193040_omim_618343_orphanet_636941 MONDO:MONDO:0032688,MedGen:C5193040,OMIM:618343,Orphanet:636941 31 31 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL3A1:single_exon:E7 0.064516 54 COL3A1:exon_block:E15-E18 0.161290 1446 COL3A1:boundary_CDS_coverage:after_E1 1.000000 4319 large_gene_or_donor_burden_stress_case donor_burden_stress 210 record-level condition-associated architecture; not patient coverage or disease prevalence SPG11 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPG11:single_exon:E30 0.200000 745 SPG11:exon_block:E28-E32 0.333333 15868 SPG11:boundary_CDS_coverage:after_E1 0.966667 7072 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 158 record-level condition-associated architecture; not patient coverage or disease prevalence RPGRIP1L RPGRIP1L-related disorder rpgrip1l_related_disorder MedGen:CN239416 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RPGRIP1L:single_exon:E17 0.200000 379 RPGRIP1L:exon_block:E13-E17 0.433333 12008 RPGRIP1L:boundary_CDS_coverage:after_E1 1.000000 3945 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 112 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A MYO7A-related disorder myo7a_related_disorder . 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E21 0.100000 219 MYO7A:exon_block:E3-E7 0.300000 14296 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 168 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Congenital myopathy with fiber type disproportion mondo_mondo_0009711_medgen_c0546264_orphanet_2020 MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.166667 256 MYH7:exon_block:E19-E23 0.466667 2175 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 150 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 MECP2-related disorder medgen_c5880921 MedGen:C5880921 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MECP2:single_exon:E3 0.866667 9878 MECP2:exon_block:E1-E3 0.966667 76145 MECP2:boundary_CDS_coverage:after_E1 0.933333 1432 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence LAMB3 Junctional epidermolysis bullosa mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMB3:single_exon:E7 0.133333 64 LAMB3:exon_block:E6-E10 0.366667 4902 LAMB3:boundary_CDS_coverage:after_E1 1.000000 3516 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 100 record-level condition-associated architecture; not patient coverage or disease prevalence GRIN2B Complex neurodevelopmental disorder mondo_mondo_0100038_medgen_c5568766_orphanet_528084 MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GRIN2B:single_exon:E13 0.233333 239 GRIN2B:exon_block:E10-E14 0.666667 71496 GRIN2B:boundary_CDS_coverage:after_E1 1.000000 4452 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 55 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A Developmental and epileptic encephalopathy, 52 mondo_mondo_0033361_medgen_c4479236_omim_617350 MONDO:MONDO:0033361,MedGen:C4479236,OMIM:617350 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CACNA1A:single_exon:E25 0.166667 100 CACNA1A:exon_block:E24-E28 0.266667 18607 CACNA1A:boundary_CDS_coverage:after_E1 1.000000 7225 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 140 record-level condition-associated architecture; not patient coverage or disease prevalence BMPR2 Pulmonary venoocclusive disease 1 mondo_mondo_0020713_medgen_c3887658_omim_265450_orphanet_31837 MONDO:MONDO:0020713,MedGen:C3887658,OMIM:265450,Orphanet:31837 30 30 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BMPR2:single_exon:E12 0.166667 1280 BMPR2:exon_block:E8-E12 0.500000 25738 BMPR2:boundary_CDS_coverage:after_E1 0.966667 3038 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 56 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A Episodic ataxia, type 9 mondo_mondo_0030064_medgen_c5394520_omim_618924 MONDO:MONDO:0030064,MedGen:C5394520,OMIM:618924 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN2A:single_exon:E27 0.172414 3676 SCN2A:exon_block:E24-E27 0.344828 11713 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 110 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NSD1:single_exon:E5 0.413793 2560 NSD1:exon_block:E4-E7 0.517241 34388 NSD1:boundary_CDS_coverage:after_E1 1.000000 8088 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 94 record-level condition-associated architecture; not patient coverage or disease prevalence MYBPC3 MYBPC3-related disorder mybpc3_related_disorder . 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYBPC3:single_exon:E17 0.275862 167 MYBPC3:exon_block:E13-E17 0.310345 1047 MYBPC3:boundary_CDS_coverage:after_E1 1.000000 3797 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 127 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Syndromic X-linked intellectual disability Lubs type mondo_mondo_0010283_medgen_c1846058_omim_300260_orphanet_1762 MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orphanet:1762 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MECP2:single_exon:E3 0.862069 9878 MECP2:exon_block:E2-E3 0.965517 10985 MECP2:boundary_CDS_coverage:after_E1 0.965517 1432 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 7 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1B:single_exon:E2 0.448276 200 HNF1B:exon_block:E1-E5 0.965517 34557 HNF1B:boundary_CDS_coverage:after_E1 0.896552 1327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 33 record-level condition-associated architecture; not patient coverage or disease prevalence EP300 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis EP300:single_exon:E31 0.344828 3305 EP300:exon_block:E27-E31 0.482759 9672 EP300:boundary_CDS_coverage:after_E1 1.000000 7148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 120 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Dystrophin deficiency dystrophin_deficiency . 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E40 0.103448 153 DMD:exon_block:E56-E58 0.206897 28471 DMD:boundary_CDS_coverage:after_E1 0.965517 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 242 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Menke-Hennekam syndrome 1 mondo_mondo_0020763_medgen_c5193034_omim_618332 MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CREBBP:single_exon:E31 0.517241 4821 CREBBP:exon_block:E30-E31 0.758621 6420 CREBBP:boundary_CDS_coverage:after_E1 1.000000 7241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 65 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Spondyloepiphyseal dysplasia, Stanescu type mondo_mondo_0014701_medgen_c4225273_omim_616583_orphanet_459051 MONDO:MONDO:0014701,MedGen:C4225273,OMIM:616583,Orphanet:459051 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E14 0.068966 54 COL2A1:exon_block:E42-E46 0.275862 1439 COL2A1:boundary_CDS_coverage:after_E1 0.965517 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 181 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 mondo_mondo_0030855_medgen_c5436847_omim_619120 MONDO:MONDO:0030855,MedGen:C5436847,OMIM:619120 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E9 0.137931 54 COL1A2:exon_block:E7-E10 0.275862 697 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 171 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A1 Osteoporosis human_phenotype_ontology_hp_0000939_human_phenotype_ontology_hp_0002774_mondo_mondo_0005298_medgen_c0029456_omim_166710 Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A1:single_exon:E8 0.068966 54 COL1A1:exon_block:E31-E33 0.172414 1070 COL1A1:boundary_CDS_coverage:after_E1 1.000000 4289 large_gene_or_donor_burden_stress_case donor_burden_stress 193 record-level condition-associated architecture; not patient coverage or disease prevalence CHD7 CHD7-related CHARGE syndrome mondo_mondo_1010178_medgen_cn380413_omim_214800 MONDO:MONDO:1010178,MedGen:CN380413,OMIM:214800 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHD7:single_exon:E12 0.103448 244 CHD7:exon_block:E31-E34 0.206897 4060 CHD7:boundary_CDS_coverage:after_E1 1.000000 8991 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 149 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Nephrolithiasis/nephrocalcinosis nephrolithiasis_nephrocalcinosis MedGen:CN580796 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CASR:single_exon:E3 0.241379 307 CASR:exon_block:E3-E7 0.827586 34549 CASR:boundary_CDS_coverage:after_E1 1.000000 3234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 26 record-level condition-associated architecture; not patient coverage or disease prevalence CACNA1A CACNA1A-related disorder cacna1a_related_disorder . 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CACNA1A:single_exon:E2 0.103448 106 CACNA1A:exon_block:E16-E20 0.275862 17382 CACNA1A:boundary_CDS_coverage:after_E1 1.000000 7225 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 172 record-level condition-associated architecture; not patient coverage or disease prevalence ATP7B ATP7B-related disorder atp7b_related_disorder . 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ATP7B:single_exon:E8 0.172414 234 ATP7B:exon_block:E11-E15 0.413793 7776 ATP7B:boundary_CDS_coverage:after_E1 1.000000 4344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 87 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Stargardt disease mondo_mondo_0019353_medgen_c0271093_orphanet_827 MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E6 0.103448 198 ABCA4:exon_block:E25-E29 0.275862 6923 ABCA4:boundary_CDS_coverage:after_E1 1.000000 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 174 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Retinal disorder human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 29 29 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E44 0.103448 142 ABCA4:exon_block:E8-E12 0.206897 17607 ABCA4:boundary_CDS_coverage:after_E1 1.000000 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 184 record-level condition-associated architecture; not patient coverage or disease prevalence SLC2A1 Dystonia 9 mondo_mondo_0010983_medgen_c1832855_omim_601042_orphanet_53583 MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042,Orphanet:53583 28 28 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC2A1:single_exon:E2 0.178571 96 SLC2A1:exon_block:E1-E5 0.571429 28996 SLC2A1:boundary_CDS_coverage:after_E1 0.964286 1458 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 42 record-level condition-associated architecture; not patient coverage or disease prevalence RIF1 Nemaline myopathy mondo_mondo_0018958_medgen_c0206157_omim_ps161800_omim_ps256030_orphanet_607 MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,OMIM:PS256030,Orphanet:607 28 28 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RIF1:boundary_CDS_coverage:after_E1 1.000000 7416 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 28 28 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OTOF:single_exon:E9 0.071429 132 OTOF:exon_block:E17-E21 0.250000 2482 OTOF:boundary_CDS_coverage:after_E1 1.000000 5912 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 169 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 OCA2-related disorder oca2_related_disorder . 28 28 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OCA2:single_exon:E21 0.178571 105 OCA2:exon_block:E18-E22 0.500000 100511 OCA2:boundary_CDS_coverage:after_E1 1.000000 2514 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 101 record-level condition-associated architecture; not patient coverage or disease prevalence GJB2 Hearing impairment human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 28 28 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GJB2:single_exon:E2 0.964286 2134 GJB2:exon_block:E1-E2 1.000000 5469 GJB2:boundary_CDS_coverage:after_E1 0.964286 678 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 4 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Intellectual disability human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 28 28 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYRK1A:single_exon:E7 0.321429 287 DYRK1A:exon_block:E5-E9 0.785714 15621 DYRK1A:boundary_CDS_coverage:after_E1 1.000000 2262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 45 record-level condition-associated architecture; not patient coverage or disease prevalence CASR Epilepsy, idiopathic generalized, susceptibility to, 8 mondo_mondo_0013032_medgen_c2752062_omim_612899 MONDO:MONDO:0013032,MedGen:C2752062,OMIM:612899 28 28 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CASR:single_exon:E4 0.321429 885 CASR:exon_block:E3-E7 0.892857 34549 CASR:boundary_CDS_coverage:after_E1 1.000000 3234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 25 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia medgen_c1832529 MedGen:C1832529 28 28 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ACVRL1:single_exon:E10 0.321429 2603 ACVRL1:exon_block:E6-E10 0.857143 8923 ACVRL1:boundary_CDS_coverage:after_E1 1.000000 1509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 40 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Seizures, benign familial infantile, 5 mondo_mondo_0014903_medgen_c4310728_omim_617080_orphanet_306 MONDO:MONDO:0014903,MedGen:C4310728,OMIM:617080,Orphanet:306 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN8A:single_exon:E27 0.259259 6583 SCN8A:exon_block:E25-E27 0.444444 22467 SCN8A:boundary_CDS_coverage:after_E1 1.000000 5940 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 85 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Dilated cardiomyopathy 1E mondo_mondo_0011003_medgen_c1832680_omim_601154_orphanet_154 MONDO:MONDO:0011003,MedGen:C1832680,OMIM:601154,Orphanet:154 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.259259 3497 SCN5A:exon_block:E27-E28 0.296296 6488 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 94 record-level condition-associated architecture; not patient coverage or disease prevalence PKP2 Familial isolated arrhythmogenic right ventricular dysplasia mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKP2:single_exon:E3 0.148148 698 PKP2:exon_block:E3-E6 0.444444 37516 PKP2:boundary_CDS_coverage:after_E1 0.888889 2288 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 54 record-level condition-associated architecture; not patient coverage or disease prevalence OCA2 Oculocutaneous albinism mondo_mondo_0018910_medgen_c0078918_omim_ps203100_orphanet_55 MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OCA2:single_exon:E14 0.185185 139 OCA2:exon_block:E19-E23 0.370370 81296 OCA2:boundary_CDS_coverage:after_E1 1.000000 2514 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 95 record-level condition-associated architecture; not patient coverage or disease prevalence NOTCH3 Lateral meningocele syndrome mondo_mondo_0007537_medgen_c1851710_omim_130720_orphanet_2789 MONDO:MONDO:0007537,MedGen:C1851710,OMIM:130720,Orphanet:2789 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NOTCH3:single_exon:E33 0.333333 2677 NOTCH3:exon_block:E2-E4 0.370370 5619 NOTCH3:boundary_CDS_coverage:after_E1 1.000000 6845 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 90 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis IFT140:single_exon:E11 0.074074 204 IFT140:exon_block:E20-E24 0.259259 2245 IFT140:boundary_CDS_coverage:after_E1 1.000000 4386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 134 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1B Nonpapillary renal cell carcinoma mondo_mondo_0007763_medgen_cn074294_omim_144700_orphanet_422526 MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1B:single_exon:E2 0.481481 200 HNF1B:exon_block:E1-E5 0.962963 34557 HNF1B:boundary_CDS_coverage:after_E1 0.925926 1327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 33 record-level condition-associated architecture; not patient coverage or disease prevalence F8 Thrombophilia, X-linked, due to factor 8 defect mondo_mondo_0859082_medgen_c5676879_omim_301071 MONDO:MONDO:0859082,MedGen:C5676879,OMIM:301071 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis F8:single_exon:E14 0.259259 3106 F8:exon_block:E11-E15 0.518519 50752 F8:boundary_CDS_coverage:after_E1 1.000000 6910 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence ENG ENG-related disorder eng_related_disorder . 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ENG:single_exon:E12 0.185185 258 ENG:exon_block:E5-E9 0.518519 5961 ENG:boundary_CDS_coverage:after_E1 1.000000 1907 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 60 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E23 0.481481 2295 DSP:exon_block:E20-E24 0.629630 9756 DSP:boundary_CDS_coverage:after_E1 1.000000 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 75 record-level condition-associated architecture; not patient coverage or disease prevalence DNAH5 DNAH5-related disorder dnah5_related_disorder . 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DNAH5:single_exon:E23 0.111111 202 DNAH5:exon_block:E48-E50 0.148148 2065 DNAH5:boundary_CDS_coverage:after_E1 0.962963 13815 large_gene_or_donor_burden_stress_case donor_burden_stress 248 record-level condition-associated architecture; not patient coverage or disease prevalence CHD2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CHD2:single_exon:E14 0.148148 217 CHD2:exon_block:E35-E38 0.296296 11114 CHD2:boundary_CDS_coverage:after_E1 1.000000 5484 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 143 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Breast and/or ovarian cancer breast_and_or_ovarian_cancer MedGen:CN221562 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis C11orf65:boundary_CDS_coverage:after_E1 1.000000 939 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence AR Partial androgen insensitivity syndrome mondo_mondo_0010720_medgen_c0268301_omim_312300_orphanet_90797 MONDO:MONDO:0010720,MedGen:C0268301,OMIM:312300,Orphanet:90797 27 27 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis AR:single_exon:E5 0.222222 145 AR:exon_block:E3-E7 0.703704 36975 AR:boundary_CDS_coverage:after_E1 0.851852 1144 compact_adjacent_exon_block_opportunity local_compact_architecture 32 record-level condition-associated architecture; not patient coverage or disease prevalence STXBP1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis STXBP1:single_exon:E10 0.115385 108 STXBP1:exon_block:E10-E14 0.423077 7863 STXBP1:boundary_CDS_coverage:after_E1 1.000000 1745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 80 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Rothmund-Thomson syndrome type 2 mondo_mondo_0016369_medgen_c5203410_omim_268400_orphanet_221016 MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RECQL4:single_exon:E5 0.230769 777 RECQL4:exon_block:E13-E15 0.423077 866 RECQL4:boundary_CDS_coverage:after_E1 1.000000 3540 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 74 record-level condition-associated architecture; not patient coverage or disease prevalence KMT2D Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome mondo_mondo_0035651_medgen_c5680310_omim_620186_orphanet_589856 MONDO:MONDO:0035651,MedGen:C5680310,OMIM:620186,Orphanet:589856 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KMT2D:single_exon:E39 0.269231 233 KMT2D:exon_block:E39-E40 0.384615 3125 KMT2D:boundary_CDS_coverage:after_E1 1.000000 16611 large_gene_or_donor_burden_stress_case donor_burden_stress 143 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 Beckwith-Wiedemann syndrome mondo_mondo_0007534_medgen_c0004903_omim_130650_orphanet_116 MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E6 0.230769 141 KCNQ1:exon_block:E3-E7 0.576923 12918 KCNQ1:boundary_CDS_coverage:after_E1 0.961538 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 69 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Type 1 diabetes mellitus 20 mondo_mondo_0012919_medgen_c2675866_omim_612520 MONDO:MONDO:0012919,MedGen:C2675866,OMIM:612520 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1A:single_exon:E4 0.307692 242 HNF1A:exon_block:E1-E4 0.615385 15863 HNF1A:boundary_CDS_coverage:after_E1 0.846154 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 38 record-level condition-associated architecture; not patient coverage or disease prevalence DYRK1A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYRK1A:single_exon:E7 0.307692 287 DYRK1A:exon_block:E4-E8 0.730769 14956 DYRK1A:boundary_CDS_coverage:after_E1 1.000000 2262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 47 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A1 COL4A1-related disorder mondo_mondo_0800461_medgen_cn376119 MONDO:MONDO:0800461,MedGen:CN376119 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A1:single_exon:E29 0.076923 98 COL4A1:exon_block:E29-E33 0.307692 3548 COL4A1:boundary_CDS_coverage:after_E1 1.000000 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 147 record-level condition-associated architecture; not patient coverage or disease prevalence CNGA3 Achromatopsia human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CNGA3:single_exon:E8 0.769231 2758 CNGA3:exon_block:E6-E8 0.923077 8944 CNGA3:boundary_CDS_coverage:after_E1 1.000000 2082 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 28 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Gastric cancer human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis C11orf65:boundary_CDS_coverage:after_E1 1.000000 939 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence ANKRD11 ANKRD11-related disorder ankrd11_related_disorder . 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ANKRD11:single_exon:E9 0.884615 6578 ANKRD11:exon_block:E8-E12 1.000000 15370 ANKRD11:boundary_CDS_coverage:after_E1 1.000000 7989 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 30 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC8 Neonatal diabetes mellitus mondo_mondo_0016391_medgen_c0158981_orphanet_224 MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224 26 26 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC8:single_exon:E5 0.153846 243 ABCC8:exon_block:E1-E5 0.230769 15263 ABCC8:boundary_CDS_coverage:after_E1 0.961538 4595 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 150 record-level condition-associated architecture; not patient coverage or disease prevalence VWF VWF-related disorder vwf_related_disorder . 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VWF:single_exon:E28 0.320000 1379 VWF:exon_block:E27-E31 0.440000 5947 VWF:boundary_CDS_coverage:after_E1 1.000000 8439 large_gene_or_donor_burden_stress_case donor_burden_stress 150 record-level condition-associated architecture; not patient coverage or disease prevalence TCF4 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TCF4:single_exon:E18 0.440000 230 TCF4:exon_block:E14-E18 0.680000 28545 TCF4:boundary_CDS_coverage:after_E1 1.000000 2013 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 68 record-level condition-associated architecture; not patient coverage or disease prevalence SPTB SPTB-related disorder sptb_related_disorder . 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SPTB:single_exon:E14 0.160000 871 SPTB:exon_block:E12-E16 0.400000 9236 SPTB:boundary_CDS_coverage:after_E1 1.000000 6984 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 142 record-level condition-associated architecture; not patient coverage or disease prevalence SLC26A4 SLC26A4-related disorder slc26a4_related_disorder . 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC26A4:single_exon:E2 0.120000 167 SLC26A4:exon_block:E2-E6 0.400000 13471 SLC26A4:boundary_CDS_coverage:after_E1 1.000000 2340 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 89 record-level condition-associated architecture; not patient coverage or disease prevalence SCN8A Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN8A:single_exon:E27 0.200000 6583 SCN8A:exon_block:E10-E14 0.360000 46177 SCN8A:boundary_CDS_coverage:after_E1 1.000000 5940 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 99 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Sick sinus syndrome 1 mondo_mondo_0024562_medgen_c1837845_omim_608567_orphanet_166282 MONDO:MONDO:0024562,MedGen:C1837845,OMIM:608567,Orphanet:166282 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.280000 3497 SCN5A:exon_block:E27-E28 0.320000 6488 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 109 record-level condition-associated architecture; not patient coverage or disease prevalence PAH Hyperphenylalaninemia human_phenotype_ontology_hp_0004923_medgen_c0751435 Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PAH:single_exon:E2 0.120000 108 PAH:exon_block:E6-E10 0.440000 10997 PAH:boundary_CDS_coverage:after_E1 0.920000 1296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 53 record-level condition-associated architecture; not patient coverage or disease prevalence NSD1 Beckwith-Wiedemann syndrome mondo_mondo_0007534_medgen_c0004903_omim_130650_orphanet_116 MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NSD1:single_exon:E5 0.520000 2560 NSD1:exon_block:E2-E5 0.600000 77109 NSD1:boundary_CDS_coverage:after_E1 1.000000 8088 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 84 record-level condition-associated architecture; not patient coverage or disease prevalence MECP2 Autism, susceptibility to, X-linked 3 mondo_mondo_0010342_medgen_c1845336_omim_300496 MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MECP2:single_exon:E3 0.840000 9878 MECP2:exon_block:E1-E3 0.960000 76145 MECP2:boundary_CDS_coverage:after_E1 0.920000 1432 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 8 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 IFT140-related disorder ift140_related_disorder . 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis IFT140:single_exon:E21 0.160000 191 IFT140:exon_block:E10-E14 0.320000 14869 IFT140:boundary_CDS_coverage:after_E1 1.000000 4386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 120 record-level condition-associated architecture; not patient coverage or disease prevalence GUCY2D Night blindness, congenital stationary, type1i mondo_mondo_0032811_medgen_c5231408_omim_618555 MONDO:MONDO:0032811,MedGen:C5231408,OMIM:618555 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GUCY2D:single_exon:E12 0.160000 149 GUCY2D:exon_block:E10-E14 0.480000 2602 GUCY2D:boundary_CDS_coverage:after_E1 1.000000 3309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 83 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Cardiomyopathy human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E40 0.120000 153 DMD:exon_block:E37-E40 0.240000 19825 DMD:boundary_CDS_coverage:after_E1 0.960000 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 238 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Ullrich congenital muscular dystrophy 1B mondo_mondo_0958235_medgen_c5935582_omim_620727 MONDO:MONDO:0958235,MedGen:C5935582,OMIM:620727 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL6A2:single_exon:E26 0.160000 453 COL6A2:exon_block:E24-E28 0.360000 7583 COL6A2:boundary_CDS_coverage:after_E1 0.960000 3057 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 116 record-level condition-associated architecture; not patient coverage or disease prevalence COL5A1 Familial thoracic aortic aneurysm and aortic dissection mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL5A1:single_exon:E5 0.080000 132 COL5A1:exon_block:E48-E51 0.160000 3025 COL5A1:boundary_CDS_coverage:after_E1 0.960000 5405 large_gene_or_donor_burden_stress_case donor_burden_stress 198 record-level condition-associated architecture; not patient coverage or disease prevalence COL4A3 COL4A3-related disorder col4a3_related_disorder . 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL4A3:single_exon:E21 0.080000 165 COL4A3:exon_block:E20-E23 0.200000 6007 COL4A3:boundary_CDS_coverage:after_E1 0.960000 4923 large_gene_or_donor_burden_stress_case donor_burden_stress 177 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Stickler syndrome mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E51 0.120000 289 COL2A1:exon_block:E48-E52 0.240000 2245 COL2A1:boundary_CDS_coverage:after_E1 1.000000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 183 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Spondyloepiphyseal dysplasia with metatarsal shortening mondo_mondo_0012206_medgen_c1836683_omim_609162_orphanet_137678 MONDO:MONDO:0012206,MedGen:C1836683,OMIM:609162,Orphanet:137678 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E42 0.120000 162 COL2A1:exon_block:E42-E45 0.320000 1159 COL2A1:boundary_CDS_coverage:after_E1 0.960000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 177 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Namaqualand hip dysplasia mondo_mondo_0011496_medgen_c0432214_omim_604864_orphanet_93279 MONDO:MONDO:0011496,MedGen:C0432214,OMIM:604864,Orphanet:93279 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E14 0.080000 54 COL2A1:exon_block:E42-E45 0.280000 1159 COL2A1:boundary_CDS_coverage:after_E1 0.960000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 163 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Multiple epiphyseal dysplasia, Beighton type mondo_mondo_0007562_medgen_c1851536_omim_132450_orphanet_166011 MONDO:MONDO:0007562,MedGen:C1851536,OMIM:132450,Orphanet:166011 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E43 0.120000 108 COL2A1:exon_block:E41-E45 0.360000 1965 COL2A1:boundary_CDS_coverage:after_E1 0.960000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 170 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Avascular necrosis of femoral head, primary, 1 mondo_mondo_0054550_medgen_c4551562_omim_608805_orphanet_86820 MONDO:MONDO:0054550,MedGen:C4551562,OMIM:608805,Orphanet:86820 25 25 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E42 0.120000 162 COL2A1:exon_block:E42-E45 0.320000 1159 COL2A1:boundary_CDS_coverage:after_E1 0.960000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence ZEB2 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ZEB2:single_exon:E8 0.458333 1970 ZEB2:exon_block:E6-E10 0.875000 20050 ZEB2:boundary_CDS_coverage:after_E1 1.000000 3642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 38 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Progressive familial heart block, type 1A mondo_mondo_0007240_medgen_c1879286_omim_113900_orphanet_871 MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.291667 3497 SCN5A:exon_block:E27-E28 0.375000 6488 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Atrial fibrillation, familial, 10 mondo_mondo_0013530_medgen_c3151464_omim_614022 MONDO:MONDO:0013530,MedGen:C3151464,OMIM:614022 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.291667 3497 SCN5A:exon_block:E27-E28 0.375000 6488 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence RUNX1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RUNX1:single_exon:E5 0.208333 157 RUNX1:exon_block:E5-E9 0.833333 92913 RUNX1:boundary_CDS_coverage:after_E1 1.000000 1440 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 31 record-level condition-associated architecture; not patient coverage or disease prevalence RECQL4 Rapadilino syndrome mondo_mondo_0009955_medgen_c1849453_omim_266280_orphanet_3021 MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis RECQL4:single_exon:E15 0.208333 292 RECQL4:exon_block:E12-E15 0.416667 1261 RECQL4:boundary_CDS_coverage:after_E1 1.000000 3540 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 79 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Nonsyndromic genetic hearing loss mondo_mondo_0019497_medgen_c5680182_orphanet_87884 MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OTOF:single_exon:E14 0.125000 187 OTOF:exon_block:E14-E18 0.250000 3329 OTOF:boundary_CDS_coverage:after_E1 0.958333 5912 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 141 record-level condition-associated architecture; not patient coverage or disease prevalence MYO7A Hearing loss, autosomal recessive mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYO7A:single_exon:E3 0.083333 114 MYO7A:exon_block:E3-E7 0.250000 14296 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 185 record-level condition-associated architecture; not patient coverage or disease prevalence KCNQ1 KCNQ1-related disorder kcnq1_related_disorder MedGen:CN239322 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis KCNQ1:single_exon:E3 0.166667 127 KCNQ1:exon_block:E1-E5 0.541667 127102 KCNQ1:boundary_CDS_coverage:after_E1 0.916667 1642 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 65 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A HNF1A-related disorder hnf1a_related_disorder . 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1A:single_exon:E3 0.333333 187 HNF1A:exon_block:E2-E6 0.833333 7910 HNF1A:boundary_CDS_coverage:after_E1 1.000000 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 39 record-level condition-associated architecture; not patient coverage or disease prevalence FANCA FANCA-related disorder fanca_related_disorder . 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FANCA:single_exon:E38 0.125000 63 FANCA:exon_block:E30-E33 0.250000 10047 FANCA:boundary_CDS_coverage:after_E1 0.958333 4286 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 143 record-level condition-associated architecture; not patient coverage or disease prevalence F8 F8-related disorder f8_related_disorder . 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis F8:single_exon:E4 0.125000 213 F8:exon_block:E4-E8 0.375000 26723 F8:boundary_CDS_coverage:after_E1 1.000000 6910 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 105 record-level condition-associated architecture; not patient coverage or disease prevalence CEP290 CEP290-related ciliopathy mondo_mondo_0100451_medgen_cn305601 MONDO:MONDO:0100451,MedGen:CN305601 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CEP290:single_exon:E31 0.083333 456 CEP290:exon_block:E35-E39 0.250000 5761 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_stress 152 record-level condition-associated architecture; not patient coverage or disease prevalence CC2D2A CC2D2A-related disorder cc2d2a_related_disorder MedGen:CN239313 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CC2D2A:single_exon:E21 0.166667 204 CC2D2A:exon_block:E21-E24 0.291667 6219 CC2D2A:boundary_CDS_coverage:after_E1 1.000000 4860 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 135 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 Rare genetic deafness medgen_c5680250_orphanet_96210 MedGen:C5680250,Orphanet:96210 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ADGRV1:single_exon:E32 0.083333 182 ADGRV1:exon_block:E31-E33 0.208333 3905 ADGRV1:boundary_CDS_coverage:after_E1 1.000000 18896 large_gene_or_donor_burden_stress_case donor_burden_stress 230 record-level condition-associated architecture; not patient coverage or disease prevalence ABCB11 ABCB11-related disorder abcb11_related_disorder . 24 24 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCB11:single_exon:E14 0.125000 204 ABCB11:exon_block:E6-E10 0.291667 10613 ABCB11:boundary_CDS_coverage:after_E1 1.000000 3963 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 106 record-level condition-associated architecture; not patient coverage or disease prevalence SOX10 PCWH syndrome mondo_mondo_0012198_medgen_c1836727_omim_609136_orphanet_163746 MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136,Orphanet:163746 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SOX10:single_exon:E4 0.608696 1887 SOX10:exon_block:E2-E4 1.000000 11557 SOX10:boundary_CDS_coverage:after_E1 1.000000 1398 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 11 record-level condition-associated architecture; not patient coverage or disease prevalence POLR2F PCWH syndrome mondo_mondo_0012198_medgen_c1836727_omim_609136_orphanet_163746 MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136,Orphanet:163746 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLR2F:boundary_CDS_coverage:after_E1 1.000000 361 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence POLG Mitochondrial DNA depletion syndrome mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis POLG:single_exon:E3 0.173913 196 POLG:exon_block:E18-E21 0.391304 2472 POLG:boundary_CDS_coverage:after_E1 1.000000 3717 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 89 record-level condition-associated architecture; not patient coverage or disease prevalence PHEX Hypophosphatemic rickets human_phenotype_ontology_hp_0004912_mondo_mondo_0024300_mesh_d063730_medgen_c1704375 Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PHEX:single_exon:E20 0.173913 105 PHEX:exon_block:E19-E22 0.347826 24868 PHEX:boundary_CDS_coverage:after_E1 1.000000 2129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 95 record-level condition-associated architecture; not patient coverage or disease prevalence NIPBL NIPBL-related disorder nipbl_related_disorder . 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NIPBL:single_exon:E10 0.173913 1626 NIPBL:exon_block:E39-E42 0.347826 4065 NIPBL:boundary_CDS_coverage:after_E1 1.000000 8412 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 100 record-level condition-associated architecture; not patient coverage or disease prevalence NBAS Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mondo_mondo_0013111_medgen_c3278664_omim_613070_orphanet_217371 MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NBAS:single_exon:E7 0.086957 134 NBAS:exon_block:E14-E18 0.217391 8217 NBAS:boundary_CDS_coverage:after_E1 0.956522 6996 large_gene_or_donor_burden_stress_case donor_burden_stress 172 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 MYH7-related disorder myh7_related_disorder . 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E22 0.173913 256 MYH7:exon_block:E20-E23 0.347826 1912 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 144 record-level condition-associated architecture; not patient coverage or disease prevalence LZTR1 Schwannomatosis mondo_mondo_0008075_mesh_c536641_medgen_c1335929_omim_ps162091_orphanet_93921 MONDO:MONDO:0008075,MeSH:C536641,MedGen:C1335929,OMIM:PS162091,Orphanet:93921 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LZTR1:single_exon:E4 0.130435 80 LZTR1:exon_block:E1-E5 0.391304 5822 LZTR1:boundary_CDS_coverage:after_E1 0.956522 2320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 83 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Hepatic adenomas, familial mondo_mondo_0007718_medgen_c1840646_omim_142330 MONDO:MONDO:0007718,MedGen:C1840646,OMIM:142330 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1A:single_exon:E4 0.304348 242 HNF1A:exon_block:E1-E4 0.608696 15863 HNF1A:boundary_CDS_coverage:after_E1 0.913043 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 38 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Lethal acantholytic epidermolysis bullosa mondo_mondo_0012323_medgen_c1864826_omim_609638_orphanet_158687 MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E24 0.347826 4073 DSP:exon_block:E20-E24 0.695652 9756 DSP:boundary_CDS_coverage:after_E1 0.956522 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 73 record-level condition-associated architecture; not patient coverage or disease prevalence DSP Keratosis palmoplantaris striata 2 mondo_mondo_0013034_medgen_c1852127_omim_612908 MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DSP:single_exon:E23 0.347826 2295 DSP:exon_block:E23-E24 0.565217 7440 DSP:boundary_CDS_coverage:after_E1 0.956522 8443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 78 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DHCR7:single_exon:E9 0.434783 1429 DHCR7:exon_block:E5-E9 0.913043 7943 DHCR7:boundary_CDS_coverage:after_E1 1.000000 1425 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 34 record-level condition-associated architecture; not patient coverage or disease prevalence DHCR7 DHCR7-related disorder dhcr7_related_disorder . 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DHCR7:single_exon:E9 0.434783 1429 DHCR7:exon_block:E5-E9 0.913043 7943 DHCR7:boundary_CDS_coverage:after_E1 1.000000 1425 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 33 record-level condition-associated architecture; not patient coverage or disease prevalence COL6A2 Ullrich congenital muscular dystrophy 1A mondo_mondo_0009681_medgen_c0410179_omim_254090_orphanet_75840 MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL6A2:single_exon:E26 0.173913 453 COL6A2:exon_block:E25-E28 0.347826 7384 COL6A2:boundary_CDS_coverage:after_E1 1.000000 3057 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 108 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Type 2 collagenopathy mondo_mondo_0022800_medgen_c2931073_orphanet_93421 MONDO:MONDO:0022800,MedGen:C2931073,Orphanet:93421 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E42 0.130435 162 COL2A1:exon_block:E42-E45 0.260870 1159 COL2A1:boundary_CDS_coverage:after_E1 1.000000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 165 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 Marshall syndrome mondo_mondo_0007949_medgen_c0265235_omim_154780_orphanet_560 MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780,Orphanet:560 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL11A1:single_exon:E50 0.173913 54 COL11A1:exon_block:E50-E54 0.217391 3526 COL11A1:boundary_CDS_coverage:after_E1 1.000000 5312 large_gene_or_donor_burden_stress_case donor_burden_stress 178 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR Cystic fibrosis diagnostic test cystic_fibrosis_diagnostic_test . 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CFTR:single_exon:E3 0.130435 109 CFTR:exon_block:E11-E14 0.434783 33194 CFTR:boundary_CDS_coverage:after_E1 1.000000 4387 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 95 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 ATM-related disorder atm_related_disorder . 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis C11orf65:boundary_CDS_coverage:after_E1 1.000000 939 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Stargardt disease 3 mondo_mondo_0010819_medgen_c1838644_omim_600110_orphanet_827 MONDO:MONDO:0010819,MedGen:C1838644,OMIM:600110,Orphanet:827 23 23 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E13 0.217391 177 ABCA4:exon_block:E11-E14 0.434783 17351 ABCA4:boundary_CDS_coverage:after_E1 0.913043 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 83 record-level condition-associated architecture; not patient coverage or disease prevalence VPS13B Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis VPS13B:single_exon:E37 0.090909 203 VPS13B:exon_block:E34-E38 0.272727 78742 VPS13B:boundary_CDS_coverage:after_E1 1.000000 11991 large_gene_or_donor_burden_stress_case donor_burden_stress 184 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A SUDDEN INFANT DEATH SYNDROME efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.363636 3497 SCN5A:exon_block:E24-E28 0.454545 9223 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence SCN2A West syndrome mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN2A:single_exon:E27 0.318182 3676 SCN2A:exon_block:E24-E27 0.500000 11713 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 93 record-level condition-associated architecture; not patient coverage or disease prevalence PKHD1 Autosomal dominant polycystic liver disease human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKHD1:single_exon:E61 0.181818 1018 PKHD1:exon_block:E58-E61 0.318182 89714 PKHD1:boundary_CDS_coverage:after_E1 1.000000 12222 large_gene_or_donor_burden_stress_case donor_burden_stress 189 record-level condition-associated architecture; not patient coverage or disease prevalence OTOF Auditory neuropathy mondo_mondo_0021944_medgen_c1852271_omim_ps609129 MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis OTOF:single_exon:E20 0.090909 91 OTOF:exon_block:E42-E45 0.318182 1535 OTOF:boundary_CDS_coverage:after_E1 1.000000 5912 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 143 record-level condition-associated architecture; not patient coverage or disease prevalence LDLR Hypercholesterolemia human_phenotype_ontology_hp_0003124_human_phenotype_ontology_hp_0008154_human_phenotype_ontology_hp_0008173_human_phenotype_ontology_hp_0008359_mesh_d006937_medgen_c0020443 Human_Phenotype_Ontology:HP:0003124,Human_Phenotype_Ontology:HP:0008154,Human_Phenotype_Ontology:HP:0008173,Human_Phenotype_Ontology:HP:0008359,MeSH:D006937,MedGen:C0020443 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LDLR:single_exon:E10 0.272727 228 LDLR:exon_block:E6-E10 0.590909 6371 LDLR:boundary_CDS_coverage:after_E1 0.954545 2513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 66 record-level condition-associated architecture; not patient coverage or disease prevalence IFT140 Renal cyst human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis IFT140:single_exon:E10 0.181818 146 IFT140:exon_block:E10-E14 0.454545 14869 IFT140:boundary_CDS_coverage:after_E1 1.000000 4386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 107 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Diabetes mellitus type 1 human_phenotype_ontology_hp_0100651_mondo_mondo_0005147_medgen_c0011854_omim_222100 Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1A:single_exon:E4 0.272727 242 HNF1A:exon_block:E1-E4 0.590909 15863 HNF1A:boundary_CDS_coverage:after_E1 0.909091 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 38 record-level condition-associated architecture; not patient coverage or disease prevalence GLB1 GLB1-related disorder glb1_related_disorder MedGen:CN377807 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis GLB1:single_exon:E4 0.181818 61 GLB1:exon_block:E4-E8 0.454545 16408 GLB1:boundary_CDS_coverage:after_E1 0.954545 1956 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 67 record-level condition-associated architecture; not patient coverage or disease prevalence FBN1 Thoracic aortic aneurysm or dissection thoracic_aortic_aneurysm_or_dissection . 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FBN1:single_exon:E26 0.090909 126 FBN1:exon_block:E28-E31 0.181818 3620 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_stress 197 record-level condition-associated architecture; not patient coverage or disease prevalence ELP1 ELP1-Associated Medulloblastoma medgen_c5670652 MedGen:C5670652 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ELP1:single_exon:E8 0.136364 91 ELP1:exon_block:E6-E10 0.272727 6724 ELP1:boundary_CDS_coverage:after_E1 1.000000 3996 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 143 record-level condition-associated architecture; not patient coverage or disease prevalence DMD Abnormality of the musculature human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DMD:single_exon:E20 0.090909 242 DMD:exon_block:E19-E22 0.272727 29679 DMD:boundary_CDS_coverage:after_E1 1.000000 11024 large_gene_or_donor_burden_stress_case donor_burden_stress 198 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CREBBP:single_exon:E31 0.272727 4821 CREBBP:exon_block:E27-E31 0.545455 11762 CREBBP:boundary_CDS_coverage:after_E1 0.954545 7241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 90 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Legg-Calve-Perthes disease human_phenotype_ontology_hp_0003280_human_phenotype_ontology_hp_0005743_human_phenotype_ontology_hp_0006448_human_phenotype_ontology_hp_0010887_mondo_mondo_0007885_medgen_c1442965_omim_150600_orphanet_2380 Human_Phenotype_Ontology:HP:0003280,Human_Phenotype_Ontology:HP:0005743,Human_Phenotype_Ontology:HP:0006448,Human_Phenotype_Ontology:HP:0010887,MONDO:MONDO:0007885,MedGen:C1442965,OMIM:150600,Orphanet:2380 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E14 0.090909 54 COL2A1:exon_block:E42-E45 0.318182 1159 COL2A1:boundary_CDS_coverage:after_E1 0.954545 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 158 record-level condition-associated architecture; not patient coverage or disease prevalence COL11A1 COL11A1-related disorder col11a1_related_disorder . 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL11A1:single_exon:E8 0.090909 255 COL11A1:exon_block:E42-E45 0.181818 11897 COL11A1:boundary_CDS_coverage:after_E1 1.000000 5312 large_gene_or_donor_burden_stress_case donor_burden_stress 174 record-level condition-associated architecture; not patient coverage or disease prevalence CNGB3 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CNGB3:single_exon:E10 0.136364 123 CNGB3:exon_block:E9-E13 0.454545 18704 CNGB3:boundary_CDS_coverage:after_E1 1.000000 2298 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence C11ORF65 Malignant tumor of breast mondo_mondo_0007254_medgen_c0006142 MONDO:MONDO:0007254,MedGen:C0006142 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis C11orf65:boundary_CDS_coverage:after_E1 0.954545 939 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence BBS1 BBS1-related disorder bbs1_related_disorder . 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BBS1:single_exon:E9 0.136364 107 BBS1:exon_block:E9-E13 0.500000 5538 BBS1:boundary_CDS_coverage:after_E1 1.000000 1732 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 73 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 Hereditary breast ovarian cancer syndrome mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BARD1:single_exon:E4 0.454545 950 BARD1:exon_block:E4-E8 0.681818 35788 BARD1:boundary_CDS_coverage:after_E1 1.000000 2173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 44 record-level condition-associated architecture; not patient coverage or disease prevalence BARD1 BARD1-related cancer predisposition mondo_mondo_0700267_medgen_cn377756 MONDO:MONDO:0700267,MedGen:CN377756 22 22 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BARD1:single_exon:E4 0.363636 950 BARD1:exon_block:E1-E4 0.545455 29124 BARD1:boundary_CDS_coverage:after_E1 0.909091 2173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 43 record-level condition-associated architecture; not patient coverage or disease prevalence ZFYVE26 Leber congenital amaurosis mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ZFYVE26:boundary_CDS_coverage:after_E1 1.000000 7617 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 2 record-level condition-associated architecture; not patient coverage or disease prevalence TMEM67 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis TMEM67:single_exon:E1 0.142857 244 TMEM67:exon_block:E1-E5 0.285714 10582 TMEM67:boundary_CDS_coverage:after_E1 0.857143 2762 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 117 record-level condition-associated architecture; not patient coverage or disease prevalence SLC12A6 Charcot-Marie-Tooth disease, axonal, IIa 2II mondo_mondo_0031068_medgen_c5774227_omim_620068 MONDO:MONDO:0031068,MedGen:C5774227,OMIM:620068 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SLC12A6:single_exon:E16 0.142857 99 SLC12A6:exon_block:E16-E20 0.333333 5108 SLC12A6:boundary_CDS_coverage:after_E1 1.000000 3450 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 104 record-level condition-associated architecture; not patient coverage or disease prevalence SETD5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SETD5:single_exon:E15 0.238095 321 SETD5:exon_block:E14-E18 0.523810 17623 SETD5:boundary_CDS_coverage:after_E1 1.000000 4326 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 72 record-level condition-associated architecture; not patient coverage or disease prevalence MYH7 Primary dilated cardiomyopathy efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MYH7:single_exon:E23 0.142857 243 MYH7:exon_block:E12-E16 0.333333 2329 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 133 record-level condition-associated architecture; not patient coverage or disease prevalence MED13L Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis MED13L:single_exon:E29 0.190476 162 MED13L:exon_block:E26-E30 0.333333 8830 MED13L:boundary_CDS_coverage:after_E1 1.000000 6558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 109 record-level condition-associated architecture; not patient coverage or disease prevalence FLNC Primary familial dilated cardiomyopathy mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis FLNC:single_exon:E22 0.095238 174 FLNC:exon_block:E44-E46 0.190476 819 FLNC:boundary_CDS_coverage:after_E1 1.000000 7823 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 154 record-level condition-associated architecture; not patient coverage or disease prevalence CTNNB1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CTNNB1:single_exon:E6 0.142857 202 CTNNB1:exon_block:E4-E8 0.523810 8491 CTNNB1:boundary_CDS_coverage:after_E1 1.000000 2343 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 57 record-level condition-associated architecture; not patient coverage or disease prevalence CREBBP CREBBP-related disorder crebbp_related_disorder . 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CREBBP:single_exon:E31 0.238095 4821 CREBBP:exon_block:E29-E31 0.428571 6884 CREBBP:boundary_CDS_coverage:after_E1 1.000000 7241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 104 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Vitreoretinopathy with phalangeal epiphyseal dysplasia mondo_mondo_0031001_medgen_c1852989_omim_619248 MONDO:MONDO:0031001,MedGen:C1852989,OMIM:619248 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E14 0.095238 54 COL2A1:exon_block:E42-E45 0.285714 1159 COL2A1:boundary_CDS_coverage:after_E1 0.952381 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 153 record-level condition-associated architecture; not patient coverage or disease prevalence COL1A2 Osteoporosis human_phenotype_ontology_hp_0000939_human_phenotype_ontology_hp_0002774_mondo_mondo_0005298_medgen_c0029456_omim_166710 Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL1A2:single_exon:E9 0.095238 54 COL1A2:exon_block:E9-E13 0.285714 3053 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_stress 153 record-level condition-associated architecture; not patient coverage or disease prevalence ASPM Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ASPM:single_exon:E18 0.380952 4755 ASPM:exon_block:E18-E22 0.523810 13279 ASPM:boundary_CDS_coverage:after_E1 0.857143 10134 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 83 record-level condition-associated architecture; not patient coverage or disease prevalence APOB Hypercholesterolemia, familial, 1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis APOB:single_exon:E26 0.380952 7572 APOB:exon_block:E26-E29 0.666667 11223 APOB:boundary_CDS_coverage:after_E1 0.857143 13607 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 73 record-level condition-associated architecture; not patient coverage or disease prevalence AHI1 Joubert syndrome and related disorders mondo_mondo_0015369_medgen_c5679612_orphanet_140874 MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis AHI1:single_exon:E7 0.238095 560 AHI1:exon_block:E7-E10 0.428571 10640 AHI1:boundary_CDS_coverage:after_E1 1.000000 3588 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 107 record-level condition-associated architecture; not patient coverage or disease prevalence ACVRL1 Hereditary hemorrhagic telangiectasia mondo_mondo_0019180_medgen_c0039445_omim_ps187300_orphanet_774 MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ACVRL1:single_exon:E7 0.238095 276 ACVRL1:exon_block:E6-E10 0.714286 8923 ACVRL1:boundary_CDS_coverage:after_E1 1.000000 1509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 39 record-level condition-associated architecture; not patient coverage or disease prevalence ABCC6 ABCC6-related disorder abcc6_related_disorder . 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCC6:single_exon:E24 0.238095 200 ABCC6:exon_block:E24-E28 0.428571 8320 ABCC6:boundary_CDS_coverage:after_E1 1.000000 4473 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 110 record-level condition-associated architecture; not patient coverage or disease prevalence ABCA4 Cone-rod dystrophy human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 21 21 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ABCA4:single_exon:E30 0.095238 187 ABCA4:exon_block:E33-E37 0.285714 6213 ABCA4:boundary_CDS_coverage:after_E1 0.952381 6753 large_gene_or_donor_burden_stress_case donor_burden_stress 152 record-level condition-associated architecture; not patient coverage or disease prevalence SCN5A Ventricular fibrillation, paroxysmal familial, type 1 mondo_mondo_0011376_medgen_c2751898_omim_603829_orphanet_228140 MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829,Orphanet:228140 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis SCN5A:single_exon:E28 0.350000 3497 SCN5A:exon_block:E27-E28 0.400000 6488 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence PKD1 PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease pkd1_biallelic_autosomal_recessive_polycystic_kidney_disease . 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis PKD1:single_exon:E15 0.150000 3620 PKD1:exon_block:E5-E7 0.250000 1630 PKD1:boundary_CDS_coverage:after_E1 1.000000 12694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture 145 record-level condition-associated architecture; not patient coverage or disease prevalence NPHS1 Nephrotic syndrome human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis NPHS1:single_exon:E6 0.100000 104 NPHS1:exon_block:E14-E18 0.300000 3162 NPHS1:boundary_CDS_coverage:after_E1 1.000000 3665 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 123 record-level condition-associated architecture; not patient coverage or disease prevalence LAMA3 Junctional epidermolysis bullosa mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis LAMA3:single_exon:E50 0.150000 155 LAMA3:exon_block:E46-E50 0.300000 5134 LAMA3:boundary_CDS_coverage:after_E1 1.000000 9705 large_gene_or_donor_burden_stress_case donor_burden_stress 136 record-level condition-associated architecture; not patient coverage or disease prevalence JAG1 Tetralogy of Fallot human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis JAG1:single_exon:E2 0.150000 306 JAG1:exon_block:E2-E6 0.400000 20539 JAG1:boundary_CDS_coverage:after_E1 1.000000 3573 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 100 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Type 2 diabetes mellitus human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1A:single_exon:E4 0.250000 242 HNF1A:exon_block:E4-E8 0.600000 5226 HNF1A:boundary_CDS_coverage:after_E1 0.900000 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 38 record-level condition-associated architecture; not patient coverage or disease prevalence HNF1A Nonpapillary renal cell carcinoma mondo_mondo_0007763_medgen_cn074294_omim_144700_orphanet_422526 MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis HNF1A:single_exon:E4 0.250000 242 HNF1A:exon_block:E4-E8 0.600000 5226 HNF1A:boundary_CDS_coverage:after_E1 0.900000 1567 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 38 record-level condition-associated architecture; not patient coverage or disease prevalence DYSF DYSF-related disorder dysf_related_disorder . 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYSF:single_exon:E13 0.100000 127 DYSF:exon_block:E50-E53 0.200000 10124 DYSF:boundary_CDS_coverage:after_E1 1.000000 6266 large_gene_or_donor_burden_stress_case donor_burden_stress 167 record-level condition-associated architecture; not patient coverage or disease prevalence DYNC2H1 DYNC2H1-related disorder dync2h1_related_disorder MedGen:CN378770 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DYNC2H1:single_exon:E10 0.100000 125 DYNC2H1:exon_block:E9-E11 0.200000 2076 DYNC2H1:boundary_CDS_coverage:after_E1 1.000000 12726 large_gene_or_donor_burden_stress_case donor_burden_stress 226 record-level condition-associated architecture; not patient coverage or disease prevalence DEPDC5 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis DEPDC5:single_exon:E20 0.100000 121 DEPDC5:exon_block:E18-E21 0.300000 9091 DEPDC5:boundary_CDS_coverage:after_E1 1.000000 4809 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 134 record-level condition-associated architecture; not patient coverage or disease prevalence COL2A1 Inborn genetic diseases mesh_d030342_medgen_c0950123 MeSH:D030342,MedGen:C0950123 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis COL2A1:single_exon:E2 0.100000 207 COL2A1:exon_block:E23-E27 0.250000 1449 COL2A1:boundary_CDS_coverage:after_E1 0.950000 4376 large_gene_or_donor_burden_stress_case donor_burden_stress 142 record-level condition-associated architecture; not patient coverage or disease prevalence CFTR ivacaftor response - Efficacy ivacaftor_response_efficacy MedGen:CN322735 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis CFTR:single_exon:E12 0.250000 95 CFTR:exon_block:E3-E6 0.400000 26378 CFTR:boundary_CDS_coverage:after_E1 1.000000 4387 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 92 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 Retinal dystrophy human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BBS2:single_exon:E9 0.150000 140 BBS2:exon_block:E5-E9 0.500000 7718 BBS2:boundary_CDS_coverage:after_E1 0.950000 2046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 69 record-level condition-associated architecture; not patient coverage or disease prevalence BBS2 BBS2-related disorder bbs2_related_disorder MedGen:CN239228 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis BBS2:single_exon:E8 0.150000 136 BBS2:exon_block:E14-E17 0.350000 13496 BBS2:boundary_CDS_coverage:after_E1 0.950000 2046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture 71 record-level condition-associated architecture; not patient coverage or disease prevalence ADGRV1 ADGRV1-related disorder adgrv1_related_disorder . 20 20 condition_architecture_interpretable condition_boundary_CDS_payload_architecture condition-associated records lie downstream of transcript-boundary CDS payload hypothesis ADGRV1:single_exon:E74 0.100000 1106 ADGRV1:exon_block:E19-E23 0.200000 21889 ADGRV1:boundary_CDS_coverage:after_E1 1.000000 18896 large_gene_or_donor_burden_stress_case donor_burden_stress 217 record-level condition-associated architecture; not patient coverage or disease prevalence